Includes Online Color Image Bank

Includes
online color
Image bank/
Wills Eye Institute
5-Minute
Ophthalmology
Consult
EDITORIAL BOARD Professor
Ophthalmology and Pediatrics
Jacqueline R. Carrasco, MD Thomas Jefferson University Hospital
Assistant Professor, Oculoplastic Surgery Philadelphia, Pennsylvania
Wills Eye Institute Pediatrics
Philadelphia, Pennsylvania
Oculoplastics
Robert B. Penne, MD
Assistant Clinical Professor
Ralph C. Eagle, Jr., MD Ophthalmology
Director, Department of Pathology Jefferson Medical College of Thomas Jefferson University
Wills Eye Hospital Philadelphia, Pennsylvania
The Noel T. and Sara L. Simmonds Professor of Oculoplastics
Ophthalmic Pathology Peter J. Savino, MD
Wills Eye Institute Clinical Professor of Ophthalmology
Professor of Ophthalmology and Pathology Shiley Eye Center
Jefferson Medical College of Thomas Jefferson University University of California, San Diego
Philadelphia, Pennsylvania La Jolla, California
Consultant in Ocular Pathology Neuro-Ophthalmology
Sunir J. Garg, MD, FACS Robert C. SergoH, MD

Associate Professor of Ophthalmology Chief
The Retina Service of Wills Eye Institute Neuro-Ophthalmology Service
Thomas Jefferson University Wills Eye Institute
Philadelphia, Pennsylvania Professor of Ophthalmology
Retina/Vitreous/Uvea Jefferson Medical College
Colleen Halfpenny, MD Neuro-Ophthalmology
Member, Cornea Service
Clinical Instructor, Cornea
Chirag P. Shah, MD, MPH
Vitreoretinal Surgeon
Wills Eye Institute
Ophthalmic Consultants of Boston
Assistant Professor, Ophthalmology
Associate Professor
Jefferson Medical College
Harvard Medical School and Tufts New England
Medical Center
Anterior SegmenVCornea
Boston, Massachusetts
Systemic Ophthalmology
L. Jay Katz, MD
Glaucoma Service Carol L. Shields, MD
Wills Eye Institute Co-Director
Philadelphia, Pennsylvania Oncology Service
Glaucoma Wills Eye Institute
Alex V. Levin, MD, MHSc, FRCSC Oncology
Professor
Ophthalmology and Pediatrics Marc J. Spirn, MD
Jefferson Medical College Retina Service
Chief, Wills Eye Institute
Pediatric Ophthalmology and Ocular Genetics Philadelphia, Pennsylvania
Wills Eye Institute Retina/Vitreous
Wi lis Eye Institute
5-Minute
Ophthalmology
Consult Senior Edltora:
Joseph I. Maguire, MD
Attending Surgeon
Retina Service
The Wills Eye Institute
Associate Professor of Ophthalmology
Thomas Jefferson University
Ann P. Mun:hison, MD, MPH

Attending Surgeon
Oculoplastic and Orbital Surgery Service
Co-Director Wills Eye Emergency Room
Assistant Professor of Ophthalmology
Edward A. Jaeger, MD
Professor of Ophthalmology
Attending Surgeon
The Wills Eye Hospital
.Wolters Kluwer ILippincott Williams & Wilkins

Hnlth
~~~~ loltlmlft Now York London
Bue11111 AI"'" Hare KDns sydney Tokyo
Senior Executive Editor: Jonathan W. Pine, Jr.
Senior Product Manager: Emilie Moyer
Vendor Manager: Alicia Jackson
Senior Manufacturing Manager: Benjamin Rivera
Marketing Manager: Lisa Lawrence
Designer: Theresa Mallon
Production Service: Aptara., Inc.
C 2012 by LIPPINCon WILLIAMS & WILKINS, a WOLTERS KLUWER business

Two Commen:e Square
2001 Malket Street
Philadelphia, PA 11103 USA
LWW.com
All rights reserved. This book is protected by copyright. No part of this book may be reproduced in any form
by any means, including photocopying, or utilized by any information storage and retrieval system without
written permission from the copyright owner, except for brief quotations embodied in critical articles and
reviews. Materials appearing in this book prepared by individuals as part of their official duties as U.S.
government employees are not covered by the above-mentioned copyright
Printed in China
Library of Congress CataloginginPublic:atian Data
Maguire, Joseph I.
Wills Eye Institute 5-minute ophthalmology consult I senior editors,
Joseph I. Maguire, Ann P. Murchison, Edward A Jaeger.
p. ; em. - (5-minute consult series)
Wills Eye Institute five-minute ophthalmology consult
5-minute ophthalmology consult
Includes bibliographical references and index.
ISBN 13: 978-1-60831-665-6 (alk. paper)
ISBN 10: 160831-665-3 (alk. paper)
I. Murchison, Ann P. II. Jaeger, Edward A Ill. Title. IV. Title:
Wills Eye Institute five-minute ophthalmology consult. V. Title:
5-minute ophthalmology consult VI. Series: 5-minute consult.
[DNLM: 1. Eye Diseases-Handbooks. 2. Eye Abnormalities-Handbooks.
WW 39]617.7-dc23 2011036417
Care has been taken to confirm the accuracy of the information presented and to describe generally
accepted practices. However, the authors, editors, and publisher are not responsible for errors or omissions
or for any consequences from application of the information in this book and make no warranty, expressed
or implied, with respect to the currency, completeness, or accuracy of the contents of the publication.
Application of the information in a particular situation remains the professional responsibility of the
practitioner.
The authors, editors, and publisher have exerted every effort to ensure that drug selection and dosage
set forth in this text are in accordance with current recommendations and practice at the time of publication.
However, in view of ongoing research, changes in government regulations, and the constant flow of
information relating to drug therapy and drug reactions, the reader is urged to check the package insert for
each drug for any change in indications and dosage and for added warnings and precautions. This is
particularly important when the recommended agent is a new or infrequently employed drug.
Some drugs and medical devices presented in the publication have Food and Drug Administration (FDA}
clearance for limited use in restricted research settings. It is the responsibility of the health care providers to
ascertain the FDA status of each drug or device planned for use in their clinical practice.
To purchase additional copies of this book, call our customer service department at (800} 638-3030 or fax
orders to (30 1) 223-2320. International customers should call (30 1) 223-2300.
Visit Lippincott Williams & Wilkins on the Internet: at LWW.com. Lippincott Williams & Wilkins customer
service representatives are available from 8:30 am to 6 pm, EST.
10 9 8 7 6 5 4 3 2 1
To the Wills Eye family, whose physicians, graduates, and staff define
excellence in patient care
CONTRIBUTORS
Fatima K. Ahmad, MD David B. Auerbach, DO Brad Ballard, MD

Resident Physician, 2009-201 2 Volunteer Resident in Ophthalmology
Wills Eye Institute Faculty of the University of Central Madigan Army Medical Center
Department of Ophthalmology Florida, College of Medicine Tacoma, Washington
Thomas Jefferson University Hospital Medical Education
Philadelphia, Pennsylvania University of Central Florida College Alok S. Bansal, MD
of Medicine Fellow, Vitreoretinal Surgery, 201 0-2012
Active Staff Retina Service
Anthony J. Aldave, MD Ophthalmology Wills Eye Institute
Resident Physician, 1997-2000 Orlando Regional Medical Center Philadelphia, Pennsylvania
Wills Eye Institute Orlando, Florida
Behln I. Barahlml, MD
Associate Professor of Ophthalmology
Brandon D. Ayres, MD Resident, 2008-2011
Director, Cornea Service, Cornea and Instructor Ophthalmology
Ophthalmology Wills Eye Institute
Refractive Surgery Fellowship
Jefferson Medical College Philadelphia, Pennsylvania
The Jules Stein Eye Institute
Los Angeles, California Assistant Surgeon Oculoplastics Fellow
Cornea Service Ophthalmology
Wills Eye Institute University of Minnesota
AmroAii,MD Associate Minneapolis, Minnesota
Instructor Ophthalmology
Thomas Jefferson University Hospital Michael J. Bartiss, OD, MD, FAAO,
Ophthalmology
Philadelphia, Pennsylvania FAAP,FACS
Casey Eye Institute-Oregon Health &
Fellow
Science University Avnl Badami, BS Pediatric Ophthalmology and Strabismus,
Portland, Oregon Medical Student 1991-1992
Jefferson Medical College Wills Eye Institute
Philadelphia, Pennsylvania Philadelphia, Pennsylvania
David R. P. Almeida
RobertS. Bailey, Jr., MD Medical Director
Department of Ophthalmology
Clinical Associate Professor Pediatric Ophthalmology Services
Queen's University
Ophthalmology Departments of Surgery and Pediatrics
Hotel Dieu Hospital
Jefferson Medical College First Health of the Carolinas
Kingston, Ontario, Canada
Director Pinehurst, North Carolina
Cataract and Primary Eye Care Services
Darrell E. Baskin, MD
Rizwan Alvi, MBBS, MD Wills Eye Institute
Vitreoretinal Fellow
Research Assistant Chief, Division of Ophthalmology
Retina Service
Pediatric Ophthalmology and Ocular Surgery, Division of Ophthalmology
Wills Eye Institute
Genetics Chestnut Hill Hospital
Wills Eye Institute Philadelphia, Pennsylvania
Philadelphia, Pennsylvania Caroline R. Baumal, MD
Steven T. Bailey, MD
Assistant Professor and Attending Former Fellow
Physician Vitreoretinal Dieseases and Surgery and
Nicholas G. Anderson, MD Intraocular Tumors Wills Eye Institute
Fellow, Retina and Vitreous Surgery, Philadelphia, Pennsylvania
Casey Eye Institute-Oregon Health and
2003-2005 Assistant Professor of
Science University
Wills Eye Institute Ophthalmology
Portland, Oregon
Philadelphia, Pennsylvania Tufts University School of Medicine
Associate Clinical Professor PaulS. Baker, MD Boston, Massachusetts
Department of Surgery Retina Service
University of Tennessee Medical Center Wills Eye Institute Gitanjali B. Baveja, MD
Southeastern Retina Associates Jefferson Medical College Comprehensive Ophthalmology
Knoxville, Tennessee Philadelphia, Pennsylvania Ashburn, Virginia
vii
viii Contributors
Stephanie A. Baxter, MD ChrisS. Bergstrom, MD, OD Jeffrey P. Blice, MD

Fellow, 2003-2004 Assistant Professor Retina Fellow, 1995-1997
Cornea/External Disease Ophthalmology Wills Eye Institute
Wills Eye Institute Emory University Philadelphia, Pennsylvania
Philadelphia, Pennsylvania Atlanta, Georgia Assistant Professor
Assistant Clinical Professor Surgery
Queens University Hospital Uniformed Services Health Sciences
Kingston, Ontario, Canada Stephen Best, MD University
Fellow, 1991-1992 Staff Ophthalmologist
Edward H. Bedrossian, Jr., MD, FACS
Neuro-ophthalmology Ophthalmology
Attending Surgeon,
Wills Eye Institute Walter Reed National Military Medical
Ophthalmic Plastic and Reconstructive
Philadelphia, Pennsylvania Center Bethesda
Surgery Department
Clinical Senior Lecturer Bethesda, Maryland
Wills Eye Institute
Eye Department
Assistant Clinical Professor of Benjamin H. Bloom, MD
University of Auckland
Ophthalmology Cataract and Primary Eye Care Service
Ophthalmologist
Jefferson Medical School Wills Eye Institute
Eye Department
Director, Ophthalmic Plastic and Philadelphia, Pennsylvania
Greenlane Clinical Centre
Reconstructive Surgery
Auckland, New Zealand
Associate Clinical Professor of Louis C. Blumenfeld, MD
Ophthalmology Fellow, 1995
Temple University School of Medicine Neuro-ophthalmology
Carlos Bianciotto., MD
Philadelphia, Pennsylvania Wills Eye Institute
Fellow
Chief of Ophthalmology Philadelphia, Pennsylvania
Ophthalmology
Delaware County Memorial Hospital Volunteer Faculty
Drexel Hill, Pennsylvania College of Medicine
Ocular Oncology
Robert D. Behar, MD Wills Eye Institute University of Central Florida
Attending Surgeon Philadelphia, Pennsylvania Department of Ophthalmology
Cataract and Primary Eye Care Service Arnold Palmer Hospital of Children
Wills Eye Institute Orlando, Florida
Jefferson Medical College Jurij R. Bilyk, MD
Philadephia, Pennsylvania Associate Professor
J. Luigi Borrillo, MD
Ophthalmologist
Ophthalmology
Raed Behbehani, MD, FRCSC San Mateo, California
Wills Eye Institute and Jefferson
Consultant Ophthalmologist
University Hospital
Neuro-Ophthalmology/Orbit Service Christopher J. Brady, MD
Attending Surgeon
AI-Bahar Ophthalmology Center Resident
Oculoplastic and Orbital Surgery
Kuwait City, Kuwait Department of Ophthalmology
Service
Wills Eye Institute
Irina Belinsky, MD Wills Eye Institute
Resident in Ophthalmology Philadelphia, Pennsylvania
New York University Gary Brown, MD, MBA
New York, New York Ophthalmologist
Gil Binenbaum, MD Glenside, Pennsylvania
Michael J. Belliveau, MD
Division of Ophthalmology
Resident
Children's Hospital of Philadelphia Vatinee Y. Bunya, MD
Queen's University Department of
Philadelphia, Pennsylvania Assistant Professor, Cornea & External
Ophthalmology
London, Ontario, Canada Disease
Ophthalmology
Robert L Bergren, MD Mark H. Blecher, MD Scheie Eye Institute, University of
Resident, 1988-1991 and Retina Fellow, Assistant Clinical Professor Pennsylvania
1991-1993 Ophthalmology Philadelphia, Pennsylvania
Wills Eye Institute Jefferson Medical College
Philadelphia, Pennsylvania Attending Surgeon William A. Cantore, MD
Clinical Instructor Co-Director, Cataract and Primary Associate Professor
Department of Ophthalmology Eye Care Ophthalmology and Neurology
University of Pittsburgh Medical Center Wills Eye Institute Penn State College of Medicine
Pittsburgh, Pennsylvania Philadelphia, Pennsylvania Hershey, Pennsylvania
Contributors ix
Jacqueline R. Carrasco, MD Christine W. Chung, MD Michael A. DellaVecchia, MD, PhD,

Assistant Professor, Oculoplastic Surgery Resident, 1996-1999 FACS
Wills Eye Institute Fellow, Corneal & External Disease, Cataract and Primary Eye Care Service
Philadelphia, Pennsylvania 1999-2000 Wills Eye Institute
Wills Eye Institute Co-Director, Wills Eye Emergency
Christopher B. Chambers, MD Philadelphia, Pennsylvania Department at Jefferson Hospital
Assistant Professor of Ophthalmology Assistant Professor of Ophthalmology
Northwestern University Jennifer E. Cohn, MD, MPH Jefferson Medical College of Thomas
Northwestern Memorial Hospital/ Assistant Professor Jefferson University
Children's Memorial Hospital Infectious Diseases Philadelphia, Pennsylvania
Chicago, Illinois University of Pennsylvania School of
Medicine Kristin DiDomenico, MD
Eric Chen, MD Philadelphia, Pennsylvania Resident
Retina Consultants of Houston
Wills Eye Institute
The Methodist Hospital Brian P. Connolly, MD
Houston, Texas Retina Service
Wills Eye Institute
Hall F. Chew, MD, FRCSC Philadelphia, Pennsylvania Harminder S. Dua, MD, FRCOphth, PhD
Clinical Fellow, 2007-2008 Henry and Corrine Bower Research
Cornea, External Disease, &Refractive Mary Ellen P. Cullom, MD Scholar, 199D-1991
Surgery Department of Surgery Fellow, Cornea 1992-1993
Wills Eye Institute Riverside Regional Medical Center Wills Eye Institute
Philadelphia, Pennsylvania Newport News, Virginia Philadelphia, Pennsylvania
Assistant Professor Chair and Professor of Ophthalmology
Department of Ophthalmology & Vision Melissa B. Daluvoy, MD Ophthalmology and Visual Sciences
Sciences Cornea External Disease Fellow, University of Nottingham
University of Toronto 2009-2010 Consultant Ophthalmologist
Staff Physician Wills Eye Institute Queens Medical Centre, University
Department of Ophthalmology Philadelphia, Pennsylvania Hospital
Sunnybrook Health Sciences Centre Ophthalmologist Nottingham, England
Toronto, Ontario, Canada Veterans Affairs Hospital
Washington, DC Ryan P. Edmonds, OD
Lan Chen, MD, PhD Low Vision/Contact Lens Service
Clinical Associate Professor Helen V. DaneshMeyer, FRANZCO Wills Eye Institute
Medicine Associate Clinical Professor Philadelphia, Pennsylvania
University of Pennsylvania Sir William and Lady Stevenson Associate
Attending Physician Professor of Ophthalmology Scott A. Edmonds, OD
Medicine Department of Ophthalmology
Adjunct Instructor
Penn Presbyterian Medical Center University of Auckland
Public Health
Philadelphia, Pennsylvania Auckland, New Zealand
Salus University
Elkins Park, Pennsylvania
Allen Chiang, MD John B. Davies, MD
Co-Director
Vitreoretinal Fellow, 2009-2011 Ophthalmologist
Low Vision/Contact Lens Service
Retina Service St Paul, Minnesota
Wills Eye Institute
Wills Eye Institute
Philadelphia, Pennsylvania Matthew R. Debiec, MD Philadelphia, Pennsylvania
Specified Health Professional
Resident in Ophthalmology
Hyung Cho, MD Lankenau Hospital
Madigan Army Medical Center
Retina Fellow Wynnewood, Pennsylvania
Tacoma, Washington
Ophthalmology
Tufts/New England Eye Center Emily A. DeCarlo, MD Susan E. Edmonds, OD
Boston, Massachusetts Tri-County Eye Physicians Low Vision/Contact Lens Service
Southampton, Pennsylvania Wills Eye Institute
Colleen Christian, MD Philadelphia, Pennsylvania
Ocular Oncology Service Char DeCroos Specified Health Professional,
Wills Eye Institute Associate Faculty Member Ophthalmology
Thomas Jefferson University Wills Eye Institute Lankenau Hospital
Philadelphia, Pennsylvania Philadelphia, Pennsylvania Wynnewood, Pennsylvania
x Contributors
Justis P. Ehlers, MD Robert Fintelmann, MD Sunir J. Garg, MD, FACS

Chief Resident, 2007-2008 and Former Resident in Ophthalmology Associate Professor of Ophthalmology
Resident, 2005-2008 Wills Eye Institute The Retina Service of Wills Eye Institute
Wills Eye Institute Philadelphia, Pennsylvania Thomas Jefferson University
Philadelphia, Pennsylvania Cornea Fellow Fellow, 2004
Staff Physician, Vitreoretinal Service Proctor Institute The Retina Service
Cole Eye Institute University of California-San Francisco Wills Eye Institute
Cleveland Clinic Foundation San Francisco, California Philadelphia, Pennsylvania
Cleveland, Ohio
Brian J. R. Forbes, MD, PhD Adam T. Gerstenblith, MD
Assistant Professor of Ophthalmology Resident, 2008-2011
J. Mark Engel, MD Vitreoretinal Surgery Fellow
Assistant Clinical Professor The University of Pennsylvania
Assistant Professor of Ophthalmology Wills Eye Institute
Pediatric Ophthalmology
Pediatric Ophthalmology Thomas Jefferson University Hospital
University of Medicine and Dentistry of Philadelphia, Pennsylvania
New Jersey The Children's Hospital of Philadelphia
Newark, New Jersey Philadelphia, Pennsylvania Neelofar Ghaznawi, MD
Fellow, 2009-2010
Alan R. Forman, MD Comea and External Disease
AnH1ony W. Farah, MD
Wills Eye Institute Wills Eye Institute
Resident
Faculty Member Philadelphia, Pennsylvania
Wills Eye Institute
Assistant Professor of Ophthalmology Clinical Instructor
Jefferson Medical College Department of Ophthalmology
Philadelphia, Pennsylvania New York University
Christopher M. Fecarotta, MD
Attending
Resident Rod Foroozan, MD
Wills Eye Institute Resident, 1998-2001
New York University Medical Center
Philadelphia, Pennsylvania Fellow, 2001-2002
New York, New York
Neuro-Ophthalmology
Brad H. Feldman, MD Wills Eye Institute Ahmara V. Gibbons, BA
Attending Surgeon Philadelphia, Pennsylvania Thomas Jefferson University
Cornea and Cataract & Primary Eye Care Assistant Professor of Ophthalmology Philadelphia, Pennsylvania
Wills Eye Institute Baylor College of Medicine
Katherine G. Gold, MD
Instructor Houston, Texas
Resident Class of 20 10
Ophthalmology
Jefferson Medical College Nicole R. Fram, MD
Wills Eye Institute, Thomas Jefferson
Philadelphia, Pennsylvania Co-Chief Resident, 2007
University
Ophthalmology
Mark M. Fernandez, MD Thomas Jefferson University
Fellow-Ophthalmic Plastic Surgery
Duke Eye Center Philadelphia, Pennsylvania
Ophthalmology
North Carolina Clinical Instructor
New York University School of Medicine
Assistant Clinical Professor
MitchellS. Fineman, MD University of California Los Angeles
Ophthalmology
Retina Service Associate Staff
Ophthalmology
Wills Eye Institute New York, New York
Assistant Professor of Ophthalmology Cedars Sinai Medical Center
Jefferson Medical College Los Angeles, California Scott M. Goldstein, MD
Philadelphia, Pennsylvania Adjunct Clinical Assistant Professor
Kathryn Burleigh Freidl, MD Department of Ophthalmology
Fellow, Glaucoma Service, Jefferson Medical College
Thomas A. Finley, MD Wills Eye Institute, 2010-2011 Oculoplastic Attending
Fellow, Retinal Consultants of Alabama Philadelphia, Pennsylvania Assistant Professor, Oculoplastic Surgery
Retina/Vitreous Surgery Fellowship-trained Glaucoma Specialist Wills Eye Institute
Homewood, Alabama Florida Eye Specialists Philadelphia, Pennsylvania
Jacksonville, Florida
David Fintak., MD Matthew Gorski, MD
Division of Emergency Medicine Scott J. Fudemberg, MD Resident
Washington University in St. Louis Glaucoma Service Ophthalmology
School of Medicine Wills Eye Institute SUNY Downstate Medical Center
St. Louis, Missouri Philadelphia, Pennsylvania Brooklyn, New York
Contributors xi
Robert J. Goulet, Ill, MD Colleen Halfpenny, MD DouglasS. Holsclaw, MD

Glaucoma Fellow, 2010-2011 Resident, 2002-2005 Assistant Clinical Professor
Wills Eye Institute Fellow, Corneal & External Department of Ophthalmology
Philadelphia, Pennsylvania Disease, 2005-2006 Francis I. Proctor Foundation
Member, Cornea Service University of California, San Francisco
Robert J. Granadler, MD Clinical Instructor, Cornea San Francisco, California
Fellow, Neuro-Ophthalmology, Wills Eye Institute
1988-1989 Assistant Professor, Ophthalmology
Eliza Hoskins, MD
Philadelphia, Pennsylvania Philadelphia, Pennsylvania Resident, 2005-2008
William Beaumont Eye Institute Wills Eye Institute
Royal Oak, Michigan Kristin M. Hammersmith, MD Philadelphia, Pennsylvania
Wilmer Eye Institute Cornea Fellow
Florin Grigorian, MD Johns Hopkins Hospital University of California, San Francisco
Pediatric Ophthalmology Baltimore, Maryland San Francisco, California
Children's Mercy Hospital
Kansas City, Missouri Sadeer B. Hannush, MD
Jason Hsu, MD
Assistant Professor
Paula Grigorian, MD Clinical Instructor
Ophthalmology
Pediatric Ophthalmology Ophthalmology
Children's Mercy Hospital Thomas Jefferson University
Attending Surgeon
Kansas City, Missouri Assistant Surgeon
Cornea Service
Retina Service
Deepak P. Grover, DO Wills Eye Institute
Wills Eye Institute
Fellow, 2009-2010 Philadelphia, Pennsylvania
Neuro-Ophthalmology
Dorothy H. Hendricks, MD
Wills Eye Institute
Clinical Instructor Denise Hug, MD
Ophthalmology Assistant Professor
Ophthalmologist on Staff
Jefferson University Hospital Ophthalmology
Lehigh Valley Hospital
Philadelphia, Pennsylvania University of Missouri-Kansas City School
Allentown, Pennsylvania
Clinical Instructor of Medicine
Ophthalmologist on Staff
Pediatric Ophthalmology Pediatric Ophthalmologist
St. Luke's Hospital
AI DuPont Hospital for Children Surgery, Section of Ophthalmology
Bethlehem, Pennsylvania
Wilmington, Delaware Children's Mercy Hospital and Clinic
Lili Grunwald, MD Kansas City, Missouri
Lawrence Y. Ho, MD
Medical Retina
Staff Physician
Private Practice
Ophthalmology Saunders L Hupp, MD
Holy Spirit Hospital/Pinnacle Hospital Fellow, 1984-1985
Kamml Gunton, MD Mechanicsburg/Harrisburg, Pennsylvania Neuro-Ophthalmology
Assistant Professor Wills Eye Institute
Susan Hoch, MD Philadelphia, Pennsylvania
Clinical Associate Professor of Medicine Clinical Professor
Wills Eye Institute
Department of Rheumatology Neurology
University of Pennsylvania University of South Alabama
Shelly R. Gupta, MD Philadelphia, Pennsylvania Attending
Fellow, 2010-2011 Surgery
Glaucoma Elizabeth M. Hofmeister, MD
Providence Hospital
Assistant Professor
Wills Eye Institute Mobile, Alabama
Philadelphia, Pennsylvania Department of Surgery
Assistant Professor Uniformed Services University of the
Health Sciences ParullchhpuJanl, MD
Ophthalmology
The Ohio State University Bethesda, Maryland Former Clinical Research Fellow in
Columbus, Ohio Refractive Surgery Advisor for Navy Glaucoma
Carlos Gustavo, MD Head, Navy Refractive Surgery Center Philadelphia, Pennsylvania
Oncology Service San Diego Assistant Professor
Wills Eye Institute Naval Medical Center San Diego Government Medical College and Hospital
Philadelphia, Pennsylvania San Diego, California Chandigarh, India
xi i Contributors
Edsel lng, MO, FRCS Paul B. Johnson, MD Monica R. Khitri, MD

Associate Professor Attending Ophthalmologist Department of Ophthalmology
Ophthalmology and Vision Sciences Emergency Department Scheie Eye Institute, University of
University of Toronto Wills Eye Institute Pennsylvania
Attending Staff Associate Oculoplastic Surgeon Attending Physician
Ophthalmology Ophthalmology Department of Surgery
Toronto East General Hospital Soli Eye Associates Philadelphia VA Medical Center
Toronto, Ontario, Canada Philadelphia, Pennsylvania Philadelphia, Pennsylvania
Suzanne K Jadico, MD Hyunjin J. Kim, MD

RickS. Kaiser, MD Clinical Fellow, 2010-2011
Chief Resident, 2009-2010 and
Associate Professor Ocular Oncology
Resident, 2007-2010
Ophthalmology
Jefferson Medical College Clinical Instructor
Wills Eye Institute
Associate Surgeon Ophthalmology
Retina Service Thomas Jefferson University Hospital
Associate Ophthalmologist
Department of Surgery
University Medical Center of Princeton
Terry Kim, MD
Princeton, New Jersey
Steven J. Kanoff, MD
Edward A. Jaeger, MD Clinical Instructor
New York, New York
Professor of Ophthalmology Wills Eye Institute
Jefferson Medical College Philadelphia, Pennsylvania Robert A- King, MD
Attending Surgeon Fellow, 1985-1986
Comprehensive Ophthalmology Pediatric Ophthalmology
Tulay Kansu, MD
Service/Medical Education Wills Eye Institute
Professor
Neurology
Active Staff Member Children's Eye Physicians
Hacettepe University School of
Ophthalmology Wheat Ridge, Colorado
Medicine
Thomas Jefferson University Hospital
Professor
Philadelphia, Pennsylvania Harold P. Koller, MD, FAAP, FACS
Neurology, Neuro-ophthalmology Unit
Hacettepe University Hospitals
Annie Jensen Jefferson Medical College
Ankara, Turkey
Department of Environmental Attending Surgeon
Health Institute of Public Health Pediatric Ophthalmology
University of Copenhagen L. Jay Katz, MD Attending Surgeon
Copenhagen, Denmark Glaucoma Service Ophthalmology
Jing Jin, MD, PhD Philadelphia, Pennsylvania Philadelphia, Pennsylvania
Clinical Assistant Professor
Ophthalmology and Pediatrics Susan M. Ksiazek, MD
Matthew D. Kay, MD Neuro-Ophthalmology Fellow,
Fellow, 1991-1992 1987-1988
Neuro-Ophthalmology Department of Ophthalmology, Section of
Wills Eye Hospital
Wills Eye Institute Neuro-Ophthalmology
Philadelphia, Pennsylvania Wills Eye Hospital
Pediatric Ophthalmologist
Assistant Clinical Professor Philadelphia, Pennsylvania
Surgery
Ophthalmology Associate Professor
Nemours/Alfred I. duPont
Florida International University College Department of Surgery, Section of
Hospital for Children
of Medicine Ophthalmology and Visual
Wilmington, Delaware
Miami, Florida Science
Brandon B. Johnson, MD University of Chicago
Resident Bhairavi V. Kharod, MD Residency Program Director
Ophthalmology Clinical Associate Department of Surgery, Section of
Wills Eye Institute Cornea and Refractive Surgery Ophthalmology and Visual
Thomas Jefferson University Service Science
Hospital Duke University Eye Center University of Chicago Hospitals
Philadelphia, Pennsylvania Durham, North Carolina Chicago, Illinois
Contributors xiii
Kenneth C. Kubis, MD Esther Lee, MD Wayne R. Lo, MD

Captain Medical Corps, United States Preliminary Residency in Internal Medicine Staff Physician
Navy Drexei/Hahnemann University Department of Ophthalmology
Fellow, 1998-1999 Philadelphia, Pennsylvania Northwest Permanente
Neuro-Ophthalmology Portland, Oregon
Wills Eye Institute
Sharon S. Lehman, MD Nikolas London, MD
Clinical Professor California Pacific Medical Center
Assistant Professor, Uniformed Services
Ophthalmology and Pediatrics San Francisco, California
University
Department of Ophthalmology Jefferson Medical College
Assistant Surgeon Caesar Luo. MD
Naval Medical Center
Pediatric Ophthalmology Ophthalmologist
Chairman
Jefferson Medical College/Wills Eye Royal Oak, Michigan
Institute
Naval Medical Center San Diego Assumpta Madu, MD
Director, Neuro-Ophthalmology Philadelphia, Pennsylvania
Chief Department of Ophthalmology
San Diego, California Glaucoma Service Montefiore Medical
Peter R. Laibson, MD Nemours Children's Clinic/AI Dupont Center
Director Emeritus Hospital for Children Albert Einstein College of Medicine
Cornea Service Wilmington, Delaware Bronx, New York
Wills Eye Institute
Joseph I. Maguire, MD
Alex V. Levin, MD, MHSc, FRCSC Attending Surgeon
Professor Retina Service
Ophthalmology and Pediatrics The Wills Eye Institute
David R. Lally, MD Jefferson Medical College Associate Professor of Ophthalmology
Resident Physician Chief, 2008-Current Thomas Jefferson University
Ophthalmology Pediatric Ophthalmology and Ocular Philadelphia, Pennsylvania
Wills Eye Institute Genetics
Philadelphia, Pennsylvania Wills Eye Institute Naresh Mandava, MD
Professor Professor and Chair
Sara Lally, MD Ophthalmology and Pediatrics Department of Ophthalmology
Oncology Service University of Colorado-Denver
Wills Eye Institute Anschutz Medical Campus
Philadelphia, Pennsylvania Aurora, Colorado
Andrew Lam, MD Brett Levinson, MD Donelson Manley, MD
Resident, 2003-2006, and Retina Fellow, Pediatric Ophthalmology
Corneal, External Disease, and Refractive
2006-2008 Surgery Fellow, 2006-2007 Wills Eye Institute
Wills Eye Institute
New England Retina Consultants Anand V. Mantravadi, MD
Director of Anterior Segment Surgery and
Attending Surgeon Glaucoma Service
Contact Lenses
Department of Surgery Wills Eye Institute
Select Eye Care
Baystate Medical Center Instructor in Ophthalmology
Active Staff
Springfield, Massachusetts Jefferson Medical College
Sinai Hospital of Baltimore Philadelphia, Pennsylvania
Katherine A. Lane, MD
Resident, 2004-2007 Baltimore, Maryland
Stephanie J. Marloneaux, MD
Wills Eye Institute
Former Wills Eye Resident and Cornea
Philadelphia, Pennsylvania Mimi Liu,MD Fellow
Attending Surgeon
Resident, Graduated 2003 Hospital Authority of Chesapeake Regional
Fletcher Allen Hospital Center
Retina Fellow, Graduated 2005 Medical Center
Burlington, Vermont
Wills Eye Institute Chesapeake Regional Medical Center
Judith B. Lavrich, MD Philadelphia, Pennsylvania Chesapeake, Virginia
Department of Pediatric Ophthalmology Attending Surgeon Assistant Professor
Wills Eye Institute Ophthalmology Department of Ophthalmology
Jefferson Medical College Porter Adventist Hospital Eastern Virginia Medical School
Philadelphia, Pennsylvania Denver, Colorado Norfolk, Virginia
xiv Contributors
Bruce J. Markovitz, MD AmmarMiri Parveen K. Nagra, MD

Clinical Instructor School of Clinical Sciences Assistant Professor
Cataract and Primary Eye Care Service Division of Ophthalmology and Visual Department of Ophthalmology
Wills Eye Institute Sciences Jefferson Medical College
Philadelphia, Pennsylvania University of Nottingham, United Cornea Service
Ophthalmology Program Director Kingdom Wills Eye Institute
Surgery Department of Surgery Philadelphia, Pennsylvania
Cooper University Hospital College of Medicine
Camden, New Jersey The University of Basrah Sarkis M. Nazarian, MD, FAAN,
Basrah, Republic of Iraq FNANOS
Arman Mashayekhi, MD Associate Professor
Assistant Professor Departments of Neurology &
Dan P. Montzka, MD
Ophthalmology Ophthalmology
Retina Fellow, 1994-1995
Thomas Jefferson University University of Arkansas for Medical
Wills Eye Institute
Staff Physician Sciences
Oncology Service Chief
Gulf Coast Retina
Wills Eye Institute Neurology Service
Port Richey, Florida
Philadelphia, Pennsylvania Central Arkansas Veterans Hospital
Little Rock, Arkansas
John 0. Mason Ill, MD Edward Moss, MD
Retina Consultants Resident in Ophthalmology Leonard B. Nelson, MD, MBA
Birmingham, Alabama Queen's University Hospital Pediatric Ophthalmology
Kingston, Ontario, Canada Wills Eye Institute
Amanda Matthews, MD Philadelphia, Pennsylvania
Resident Physician Mark L. Moster, MD
Mark L. Nelson, MD
Ophthalmology Fellow, 1983-1984
Wills Eye Institute Attending Surgeon
Wills Eye Institute
Philadelphia, Pennsylvania Neu ro-Ophthalmology
Wills Eye Institute
Marion Maus, MD, MPH Assistant Professor of Surgery
Professor
Former Residency Director Uniformed Services University of the
Neurology and Ophthalmology
Health Sciences
Oculoplastics Jefferson Medical College
Bethesda, Maryland
Thomas Jefferson University/Wills Eye Philadelphia, Pennsylvania
Attending Surgeon
Institute
Allenmore Hospital
Philadelphia, Pennsylvania Marlene R. Moster, MD Tacoma, Washington
DrPH Candidate Professor of Ophthalmology
School of Public Health Jefferson Medical College Melissa D. NeuweH, MD
University of California, Berkeley Attending Surgeon Resident, 2007-2010
Berkeley, California Ophthalmology Wills Eye Institute
J. Arch McNamara, MD*
Philadelphia, Pennsylvania Retinal Fellow
Assistant Professor
Williams Beaumont Hospital
Ann P. Murchison, MD, MPH Royal Oak, Michigan
Attending Surgeon
Attending Surgeon Erin M. Ney, MD, FACP
Oculoplastic and Orbital Surgery
Retina Service Clinical Assistant Professor
Service
Co-Director Wills Eye Emergency Room
Philadelphia, Pennsylvania Assistant Program Director
Internal Medicine Residency
Eugene Milder Assistant Professor of Ophthalmology
Fellow, Retina Service, 2009-2011 Thomas Jefferson University
Philadelphia, Pennsylvania Joshua J. Ney, MD
Vitreoretinal Surgeon Jonathan S. Myers, MD Resident
Ophthalmology Glaucoma Service Ophthalmology
Dewitt Army Community Hospital Wills Eye Institute Scheie Eye Institute
Fort Belvoir, Virginia Philadelphia, Pennsylvania Philadelphia, Pennsylvania
Deceased
Contributors XV
Rachel M. Niknam, MD Sriranjani P. Padmanabhan, MD Jared D. Peterson, MD

Glaucoma Service Resident in Ophthalmology Resident
Wills Eye Institute Scheie Eye Institute Ophthalmology
Philadelphia, Pennsylvania University of Pennsylvania Wills Eye Institute
Philadelphia, Pennsylvania Thomas Jefferson University Hospital
Thaddeus S. Nowinski, MD Philadelphia, Pennsylvania
Clinical Associate Professor Vasudha A. Panday, MD
Ophthalmology Associate Professor Arun Prasad, MD
Jefferson Medical College Department of Ophthalmology Former Clinical Fellow, 2007-2008
Attending Surgeon San Antonio Uniformed Services Health Glaucoma Department
Oculoplastic Service Education Consortium Wills Eye Institute
Wills Eye Institute San Antonio, Texas Philadelphia, Pennsylvania
Philadelphia, Pennsylvania Former Resident Glaucoma Specialist
Department of Ophthalmology Eye Care Center of Napa Valley
Mary O'Hara, MD Thomas Jefferson Medical College Napa, California
Professor Philadelphia, Pennsylvania
Ophthalmology, Pediatrics Michael J. Pro, MD
Chief, Cornea/External Disease and
University of California, Davis Glaucoma Service
Refractive Surgery
Chief, Pediatric Ophthalmology & Wills Eye Institute
Strabismus Philadelphia, Pennsylvania
Wilford Hall Medical Center
UC Davis Health System Eye Center Lackland Air Force Base, Texas Anam Quershl, MD
Sacramento, California Resident
Kristina Yi-Hwa Pao, MD
Linda H. Ohsie, MD Crozer-Chester Hospital
Resident, July '2009-present
Resident, 2007-2010 Chester, Pennsylvania
Ophthalmology
Fellow (Neuro-ophthalmology), Wills Eye Institute Irving M. Raber, MD
2010-2011 Philadelphia, Pennsylvania Clinical Assistant Professor
Wills Eye Institute Ophthalmology
Philadelphia, Pennsylvania Britt J. Parvus, DO
Wisda Eye Center Clinical Fellow, 2008-2010
Attending Surgeon
Vineland, New Jersey Ocular Oncology
Cornea Service
Comprehensive Ophthalmology Wills Eye Institute
Wills Eye Institute
Staff Physician Philadelphia, Pennsylvania
Associate Staff
Surgery Affiliate Faculty
Ophthalmology
South Jersey Healthcare Elmer Hospital Ophthalmology
Elmer, New Jersey Philadelphia College of Osteopathic
Medicine
Scott E. Olitsky, MD Affiliate Staff Michael P. Rabinowitz, MD
Professor of Ophthalmology Ophthalmology Resident Physician, 2008-20 11
University of Missouri-Kansas City School Riddle Memorial Hospital The Wills Eye Institute
of Medicine Media, Pennsylvania Clinical Instructor
Chief of Ophthalmology Department of Ophthalmology
Children's Mercy Hospitals and Clinics
Apurva K. Patel, MD
Kansas City, Missouri Retina Fellow
New York Eye and Ear Infirmary
Scott C. N. Oliver, MD New York, New York Rajesh K. Rajpal, MD
Assistant Professor Fellow, 1991-1992
Chirag P. Patel, MD, MPH
Ophthalmology Corneal Service
Resident, '2005-'2008
University of Colorado School of Medicine Wills Eye Institute
Retinal Fellow, '2008-'201 0
Faculty Physician Philadelphia, Pennsylvania
Wills Eye Institute
Ophthalmology Associate Clinical Professor
Children's Hospital Colorado Georgetown University Hospital
Partner Jayrag A. Patel, MD Washington, DC
Ophthalmology Wills Eye Institute Cornea/External Disease/Refractive
University of Colorado Hospital Philadelphia, Pennsylvania Surgery
Aurora, Colorado Mclean, Virginia
Robert B. Penna, MD
Jeffrey L Olson, MD Assistant Clinical Professor Kamalesh Janaksinh Ramaiya, MD
Retina/Vitreous Surgery Ophthalmology Vitreoretinal Surgeon
University of Colorado Hospital Jefferson Medical College Eye Associates of New Mexico
Aurora, Colorado Philadelphia, Pennsylvania Albuquerque, New Mexico
:xvi Contributors
Aparna Ramasubramanian, MD Melvin Roat, MD, FACS Jonathan H. Salvin, MD

Former Fellow, Oncology Service, Clinical Associate Professor Clinical Assistant Professor
2008-2009 Ophthalmology Departments of Ophthalmology &
Wills Eye Institute Jefferson Medical College Pediatrics
Philadelphia, Pennsylvania Assistant Surgeon Jefferson Medical College of Thomas
Resident in Ophthalmology Cornea Jefferson University
Indiana University Wills Eye Institute Philadelphia, Pennsylvania
Indianapolis, Indiana Philadelphia, Pennsylvania Division of Ophthalmology
Nemours/AI duPont Hospital for Children
P. Kumar Rao, MD
Wilmington, Delaware
Associate Professor Kathleen Romero, BS, MS, MD
Ophthalmology and Visual Sciences Resident in Ophthalmology Rob Sambursky, MD
Washington University University of California San Diego Former Resident, 2001-2004
St. Louis, Missouri San Diego, California Cornea Fellow, 2004-2005
Christopher J. Rapuano, MD The Wills Eye Institute
Professor Brett J. Rosenblatt, MD Philadelphia, Pennsylvania
Ophthalmology Kellogg Eye Center
Jefferson Medical College Lov Sarin, MD
Department of Ophthalmology and
Director, Cornea Service Wills Eye Institute
Visual Science
Ophthalmology Philadelphia, Pennsylvania
University of Michigan
Wills Eye Institute Ann Arbor, Michigan Andrea K. Sawchyn, MD
Clinical Glaucoma Fellow, 2009-2010
Mahta Rasouli, MD Julie M. Rosenthal, MD Wills Eye Institute
Retinal Fellow Resident, 2007-2010 Philadelphia, Pennsylvania
University of Alberta Ophthalmology Assistant Professor
Edmonton, Alberta, Canada Wills Eye Institute Ophthalmology
Philadelphia, Pennsylvania The Ohio State University
M. Reza Razeghinejad, MD
Fellow, Vitreoretinal Surgery Columbus, Ohio
Research Glaucoma Fellow, 2009-2010
Glaucoma Casey Eye Institute
Oregon Health and Science University Emil Anthony T. Say, MD
Wills Eye Institute
Portland, Oregon Research Fellow, 2009-2010
Ocular Oncology
Associate Professor Wills Eye Institute
Ophthalmology Christine G. Saad, MD Philadelphia, Pennsylvania
Shiraz University of Medical Sciences Cornea Fellow, 2006-2007 Retina Fellow, 2010-2012
Director of Glaucoma Service Cornea and External Disease/Cornea Department of Ophthalmology
Ophthalmology Service University of North Carolina
Khalili Hospital Wills Eye Institute Chapel Hill, North Carolina
Shiraz, Iran Philadelphia, Pennsylvania
Swathi C. Reddy, MD, MPH Ophthalmologist Anita P. Schadlu, MD
Resident Department of Surgery Wills Eye Hospital
Ophthalmology Lehigh Valley Hospital Philadelphia, Pennsylvania
Montefiore Medical Center Allentown, Pennsylvania
Ramin Schadlu, MD
Bronx, New York
Scheie Eye Institute
Carl D. Regillo, MD, FACS Dalia G. Said University of Pennsylvania
Professor of Ophthalmology Division of Ophthalmology and Visual Abington, Pennsylvania
Ophthalmology Sciences
Jefferson Medical College University of Nottingham Joseph W. Schmitz, MD
Attending Surgeon Nottingham, United Kingdom Resident
Retina Service Ophthalmology
Wills Eye Institute Naval Medical Center San Diego
Philadelphia, Pennsylvania Arvind Saini, MD, MBA San Diego, California
Cornea Fellow, 2004-2010
David S. Rhee, MD Wills Eye Hospital Bruce Schnall, MD
Retinal Fellow, 2007-2009 Philadelphia, Pennsylvania Pediatric Ophthalmology
Wills Eye Institute Milwaukee Eye Care Associate Wills Eye Institute
Philadelphia, Pennsylvania Milwaukee, Wisconsin Philadelphia, Pennsylvania
Contributors xvii
Herman D. Schubert, MD Sumit P. Shah, MD Bradley T. Smith, MD

Professor of Clinical Ophthalmology and Tufts Medical Center Ophthalmology Resident, 2003-2006
Pathology Department of Ophthalmology Wills Eye Institute
Columbia University Boston, Massachusetts Philadelphia, Pennsylvania
Attending Clinical Instructor
Ophthalmology Department of Ophthalmology & Visual
New York Presbyterian Hospital Tiffany Shiau, MHS Sciences
New York, New York Medical Student Washington University School of Medicine
Jefferson Medical College Vitreoretinal Specialist
Geoffrey P. Schwartz, MD Philadelphia, Pennsylvania The Retina Institute
Glaucoma Service St Louis, Missouri
Wills Eye Institute
Jefferson Medical College Carol L. Shields, MD Rachel K. Sobel, MD
Philadelphia, Pennsylvania Co-Director Former Resident, 2007-2010
Oncology Service Ophthalmology
Kelly D. Schweitzer, MD Wills Eye Institute Wills Eye Institute
Department of Ophthalmology Philadelphia, Pennsylvania Philadelphia, Pennsylvania
Queen's University Hospital Fellow
Kingston, Ontario, Canada Department of Oculoplastics
Jerry A. Shields, MD University of Iowa
Margaret E. M. Scott, DO Co-Director Iowa City, Iowa
General Medical Officer Oncology Service
Wills Eye Institute RizSomani
Ophthalmology
Professor of Ophthalmology Department of Ophthalmology
Naval Medical Center San Diego
Jefferson Medical College Royal Alexandra Hospital
San Diego, California
Philadelphia, Pennsylvania University of Alberta
Alberta, Edmonton, Canada
Vikram J. Setlur, MD
Resident George L. Spaeth, MD
Ophthalmology Gary Shienbaum, MD Professor
Wills Eye Institute Resident, 2008
Ophthalmology
Philadelphia, Pennsylvania Ophthalmology
Wills Eye Institute
Resident, 1963
Chirag P. Shah, MD, MPH Philadelphia, Pennsylvania
Attending Surgeon
Vitreoretinal Surgery Fellow, 2008-2010, Vitreoretinal Fellow
Glaucoma
Co-Chief Resident, 2007-2008, and Ophthalmology Director, Research Center
Resident, 2005-2008 Bascom Palmer Eye Institute
Glaucoma Service
Wills Eye Institute Miami, Florida
Wills Eye Institute
Vitreoretinal Surgeon
Ophthalmic Consultants of Boston
Olga A. Shif, MD Justin M. Spaulding, OMS Ill
Associate Professor Resident, Internal Medicine Medical Student
Harvard Medical School and Tufts New Pennsylvania Hospital Rocky Vista University College of
England Medical Center Philadelphia, Pennsylvania Osteopathic Medicine
Boston, Massachusetts Parker, Colorado
Magdalena F. Shuler, MD, PhD Benjamin D. Spirn, MD
Gaurav K. Shah, MD Attending
Retinal Consultants of Arizona
Retina Service Ophthalmology
Phoenix, Arizona
Wills Eye Hospital Riverview Medical Center
Philadelphia, Pennsylvania Red Bank, New Jersey
Rajiv Shah, MD
Department of Ophthalmology Vitreoretinal Surgeon Marc J. Splrn, MD
St Vincent's Hospital Department of Surgery
Retina Service
Sydney, Australia Gulf Coast Medical Center Wills Eye Institute
Panama City, Florida Philadelphia, Pennsylvania
Raza M. Shah, MD
Resident Erin D. Stahl, MD
Ophthalmology Arunan Slvallngam, MD Assistant Professor of Ophthalmology
Drexel Eye Physicians Wills Eye Institute University of Missouri School of Medicine
Philadelphia, Pennsylvania Philadelphia, Pennsylvania Kansas City, Missouri
:xviii Contributors
Eliza S. Stroh, MS Elyse Trastman-Caruso, MD Rudolph S. Wagner, MD

Ocular Genetics Counselor Glaucoma Fellow, 2008-2009 Fellow, 1982-1983
Pediatric Ophthalmology and Ocular Glaucoma Service Pediatric Ophthalmology and Adult
Genetics Wills Eye Institute Motility
Wills Eye Institute Attending/Clinical Instructor Wilfs Eye Hospital
Philadelphia, Pennsylvania Glaucoma/Ophthalmology Philadelphia, Pennsylvania
Wills Eye Institute Clinical Professor
Tak Vee Tania Tai, MD Philadelphia, Pennsylvania Department of Ophthalmology
Fellow, 2010-2011 UMDNJ-New Jersey Medical School
Glaucoma Tara A. Uhler, MD Director of Pediatric Ophthalmology
Wills Eye Institute Assistant Professor Institute of Ophthalmology & Visual
Philadelphia, Pennsylvania Director of Resident Education Science
Department of Ophthalmology Ophthalmology University Hospital
New York Eye and Ear Infirmary Jefferson Medical College Newark, New Jersey
New York, New York Medical Staff
Ophthalmology Eileen X. Wang, MD
MatthewS. Tennant, BA, MD, FRCSC Thomas Jefferson University Hospital Resident in Ophthalmology
Retina Fellow, 2003 Philadelphia, Pennsylvania Wills Eye Institute
Wills Eye Hospital Philadelphia, Pennsylvania
Philadelphia, Pennsylvania Scott Uretsky, MD
Associate Clinical Professor Neu ro-Ophthalmology Section Daniel Warder, MD
Ophthalmology Neurological Surgery PC Resident in Ophthalmology
University of Alberta Lake Success, New York Queen's University Hospital
Associate Clinical Professor Kingston, Ontario, Canada
Ophthalmology James F. Vander, MD
Royal Alexandra Hospital Wills Eye Institute Barry Wassennan, MD
Edmonton, Alberta, Canada Philadelphia, Pennsylvania Clinical Instructor
Alex B. Theventhiran, BSE, MS, MD G. Atma Vemulakonda, MD Wills Eye Institute
Resident Assistant Professor Philadelphia, Pennsylvania
Department of Ophthalmology Vitreoretinal Disease and Surgery
Temple University Department of Ophthalmology Daniel T. Weaver, MD
Temple University Hospital University of Washington Fellow, 1991-1992
Philadelphia, Pennsylvania Attending Physician Wilfs Eye Institute
Vitreoretinal Disease and Surgery Philadelphia, Pennsylvania
Michael D. Tibbetts, MD Department of Ophthalmology Pediatric Ophthalmology
Harvard Medical School University of Washington Medical Center Billings, Montana
Boston, Massachusetts and Harborview Medical Center
Seattle, Washington Hong Wei, MD
Patrick Tiedeken, MD
Research Felfow, 2009-2010
Glaucoma Service
Frederick B. Vivino, MD, FACR Glaucoma Research Center
Wills Eye Institute
Associate Professor of Clinical Medicine Wilfs Eye Institute
University of Pennsylvania School of Philadelphia, Pennsylvania
Medicine Lecturer
Richard Tlppennan, MD
Chief of Rheumatology Ophthalmology Department
Attending Surgeon
Penn Presbyterian Medical Center Sichuan University
Cataract and Primary Eye Care
Director, Penn Sjogren's Syndrome Center Physician
Wills Eye Institute
Philadelphia, Pennsylvania Ophthalmology Department
West China Hospital
Ethan H. littler, MD Avni Vyas. MD Chengdu, Sichuan, P.R. China
Intern Resident, 2006-2009
Medicine Co-Chief Resident, 2008-2009 Christian Wertenbaker, MD
University of Utah Wills Eye Institute Associate Clinical Professor
Salt Lake City, Utah Philadelphia, Pennsylvania Ophthalmology and Neurology
Subintern Clinical Instructor Albert Einstein College of Medicine
Glaucoma Ophthalmology Director, Neuro-Ophthalmology Service
Wills Eye Institute University of Pittsburgh Montefiore Medical Center
Philadelphia, Pennsylvania Pittsburgh, Pennsylvania Bronx, New York
Contributors xix
James H. Whelan, MD, FRCSC Jeremy D. Wolfe, MD, MS Jacky Y. T. Yeung

Fellow, 1998-2000 Vitreoretinal Surgery Fellow, Practicing Ophthalmologist Peterborough,
Retina/Vitreous Surgery 2008-2010 Ontario, Canada
William 0. Young, MD
Adjunct Assistant Professor
Comprehensive Ophthalmology Assistant Professor
Family Medicine
St. John's, Newfoundland, Canada Oakland University William Beaumont
University of North Carolina School of
Susan Whlb'ner, MD School of Medicine
Medicine
Resident, Ophthalmology Attending Surgeon
Chapel Hill, North Carolina
Naval Medical Center San Diego Associated Retinal Consultants
Surgery
San Diego, California Royal Oak, Michigan
Greensboro, North Carolina
Douglas M. Wisner, MD Omaya H. Youssef
Co-Chief Resident Vladimir Yakopson, MD, MAJ, Medical Wills Eye Institute
Ophthalmology Corps, US Army Thomas Jefferson University
Wills Eye Institute Fellow, Oculoplastic and Orbital Surgery, Philadelphia, Pennsylvania
Co-Chief Resident 2009-2011
Ophthalmology Oculoplastic and Orbital Surgery
Thomas Jefferson University Hospital Service
Philadelphia, Pennsylvania Wills Eye Institute
AndreJ. Witkin, MD Philadelphia, Pennsylvania
Vitreoretinal Surgery Fellow Chief, Ophthalmology Service
Wills Eye Hospital Department of Surgery
Thomas Jefferson University Carl R. Darnall Army Medical Center
Philadelphia, Pennsylvania Fort Hood, Texas
FOREWORD
ive minutes worth of advice from a colleague who knows as advice. Drs. Maguire, Murchison, and Jaeger have organized this
F much about the topic as anyone in the world? What could be

better?
The Wills Eye Institute 5-Minute Consult in Ophthalmology pro-
superb volume to provide just this type of very practical support: the
maximum help within a minimum of time.
This volume will be a well-thumbed, front-of-the-bookshelf addi-
vides just that type of targeted, focused advice; a quick curbside tion for the busy practitioner who is absorbed with following Osier's
consult with an expert from Wills regarding a patient there in your great dictum for prioritizing the crush of clinical care, "The best
office. preparation for tomorrow is to do today's work superbly well." This
Wills Eye has been in the business of providing exactly this sort superb tome will help in that time-honored and noble taskl
of help to physicians worldwide since we opened the doors of our
first hospital through a gift to the City of Philadelphia from James
Wills, a Quaker merchant and grocer, who died in 1825 leaving his JuUA A. H.w.ER, MD
money to build a hospital to care for the "indigent blind." As a result, Ophthalmologist-in-Chief
in 1839, the first ophthalmology residency was inaugurated at Wills, Wills Eye Institute
the beginning of a long and storied history of training physicians in Professor and Chair at Ophthalmology
our field. Jefferson Medical Collage at
Our Wills history and experience with patient care and education Thomas Jefferson University
translates into "right to the bottom line" eli nical decision-making and Philadelphia, Pennsylvania
xx:i
PREFACE
To see a World in a Grain of Sand In an increasingly real-time world, with its explosion of medical
And a Heaven in a Wild Flower and scientific information related to patient care and research, it is
Hold Infinity in the palm of your hand a constant struggle to keep abreast of new data and innovations in
And Eternity in an hour one's own specialty yet alone compensate for the breakneck pace
William Blake of change in others. One can become easily adrift and lost in this
data equivalent of the metaphorical "forest for the trees."
It is therefore helpful to have a starting point, a chassis to which
We have a privileged position, as ophthalmologists, of specializing additional facts and information can be melded over time and as
in an anatomic structure so constructed that even Darwin consid- needed. We feel that the Wills Eye Institute 5-Minute Ophthalmology
ered it an exemption from evolution. Consult format, with more than 300 topics and 45 algorithms, fills
Its visceral importance is measured by a position in romantic this void admirably. The eye's optical construct is ideally suited for
poetry equal only to the human heart photography and the multitude of accompanying photographs will
As both the portal to our souls and our window onto the world, be an additional rapid and invaluable resource.
it holds a unique spot not only in the practice of medicine but in our We hope that this inaugural edition will serve as a primer and
psyches; there is no greater primal fear than loss of vision. valuable resource that informs, validates, and even comforts the
We tell our residents and fellows that if it happens in the body, ophthalmologist, internist, general practitioner, resident, intern, and
it can happen in the eye and its adnexae. That is a developmental emergency room physician in the hustling pace of daily practice and
fact What other organ has features of neuroectoderm, mesoderm, the isolation of the nights loneliest hours.
and epidermis?
This is vast territory, and to orient ourselves we must necessarily JOSEPH I. MAGUIRE, MD
start with large concepts and move to the small. ANN P. MURCHISON, M01 MPH
EDwARD A. JAEGER, MD
xxiii
ACKNOWLEDGMENTS
We extend our thanks to the associate editors and contributing

authors who made this first edition of the Wills Eye Institute 5-Minute
Ophthalmology Consult possible.
:xx:iv
CONTENTS
Contributors vii Photorefractive Surgery Complications (Late) 31

Foreword xxi Pigmented Conjunctival Lesion(s) 32
Preface xxiii Proptosis 33
Acknowledgments xxiv ptosis 34
Recurrent Corneal Erosion Syndrome 35
I. Algorithms
Retinal Detachment 36
Acute Conjunctivitis
Retinal Hemorrhage 37
Acute Primary Angle Closure Glaucoma 2
Retinal Neovascularization 38
Blepharitis 3 Secondary Angle-Closure Glaucoma 39
Bull's Eye Maculopathy 4
Stromal Corneal Dystrophies 40
Cataract: Age-Related 5
Subluxated or Dislocated Lens 41
Choroidal Folds 6
Tearing 42
Choroidal Tumors 7
Toxic Retinopathies 43
Conjunctival Lesions 8
Transient Visual Loss 44
Conjunctival Tumors 9
Vasculitis 45
Corneal Edema 10
11. Topics
Cotton Wool Spots 11
Crystalline Retinopathy 12 Abducens/Cranial Nerve VI Palsy Sixth (VI)
Nerve Palsy 46
Dry Eye 13
Achromatopsia 48
Enophthalmos 14
Acne Rosacea 50
Esotropia 15
Acute Anterior Uveitis 52
Eyelash Loss 16
Acute Primary Angle-Closure Glaucoma 54
Eyelid Swelling 17
Acute Retinal Necrosis/Necrotizing
High lOP in Children 18
Herpetic Retinitis 56
Idiopathic Orbital Inflammatory Syndrome, Atypical 18A Adie Tonic Pupil 58
Idiopathic Orbital Inflammatory Syndrome, Typical 188 Age-Related Macular Degeneration and Polypoidal
lridocorneal Endothelial Syndrome 19 Choroidal Vasculopathy 60
Iris Tumors 20 Age-Related (Senile) Retinoschisis 62
Keratoconus 21 Aicardi Syndrome 64
LASIK Postoperative Complications-Complaints of Albinism 66
Blurred Vision 22 Allergic Conjunctivitis 68
Lens Related Glaucoma 23 Alpert Syndrome 70
Leukocoria 24 Amaurosis Fugax 72
Low Vision Management 25 Amblyopia 74
Malignant Glaucoma 26 AMD-Dry 76
Neonatal Conjunctivitis 27 AMPPE (Acute Multifocal Placoid Pigment
Night Blindness 28 Epitheliopathy) 78
Ocular Hypertension 29 Angioid Streaks 80
Photorefractive Keratotomy Complications (Early) 30 Anisocoria in Children 82
XXV
:xxvi Contents
Anisometropia 84 Choroideremia 168

Anophthalmia 86 Chronic Iridocyclitis 170
Anterior Basement Membrane Dystrophy 88 Chronic Progressive External Ophthalmoplegia
Arcus Senilis 90 (CPEO) 172
Ataxia-Telangiectasia (Louis-Bar Syndrome, AT Cicatricial Pemphigoid (CP)/Mucous Membrane
Syndrome, Boder-Sedgwick Syndrome) 92 Pemphigoid (MMP) 174
Axenfeld-Rieger Syndrome 94 Clinically Significant Diabetic Macular
Edema (CSME) 176
Band Keratopathy 96
Coloboma 178
Bartonella Neuroretinitis 98
Coloboma: Eyelid, Iris, Optic Nerve, Retina 180
Beh<;efs Disease 100
Commotio Retinae (Berlin's Edema) 182
Benign Conjunctival Lesions 102
Cone Dystrophy 184
Best's Vitelliform Macular Dystrophy 104
Congenital and Infantile Glaucoma 186
Birdshot Chorioretinopathy 106
Congenital and Pediatric Cataracts 188
Birth Trauma to the Eye 108
Congenital Hyperpigmented Abnormalities of the
Blebitis 110 Fundus 190
Blepharitis 112 Congenital Hypertrophy of the Retinal Pigmented
Blepharospasm and Hemifacial Spasm 114 Epithelium (CHRPE) 192
Blind Baby 116 Congenital Hypopigmented Retinal Lesions 194
Branch Retinal Vein Occlusion (BRVO) 118 Congenital Pit of the Optic Disc 196
Brown Syndrome 120 Conjunctival and Corneal Foreign Bodies 198
Bullous Keratopathy 122 Conjunctival and Corneal Lacerations 200
Canaliculitis 124 Conjunctival Lymphoma 202
Carotid Cavernous Fistula 126 Conjunctival Melanoma 204
Cataracts 128 Conjunctival Nevus 206
Cavernous Hemangioma of the Orbit 130 Conjunctival Primary Acquired Melanosis 208
Cavernous Hemangioma of the Retina 132 Conjunctivitis, Acute Bacterial 210
Cavernous Sinus Syndrome/Orbital Apex Syndrome 134 Conjunctivitis, Acute Viral 212
Cavernous Sinus Thrombosis 136 Contact Lens Complications 214
Central and Branch Retinal Artery Occlusion 138 Convergence Insufficiency 216
Central Corneal Ulcers 140 Corneal Abrasion 218
Central Retinal Vein Occlusion (CRVO) 142 Corneal Transplant Complications 220
Central Serous Chorioretinopathy 144 Cotton Wool Spots 222
Chalazion 146 Craniosynostoses 224
Chemical Burns 148 Crohn's Disease & UC 226
Chiasma! Disorders 150 Crouzon Syndrome 228
Child Abuse 152 Crystalline Keratopathy 230
Choroidal Effusion/Detachment 154 Cystoid Macular Edema 232
Choroidal Folds 156 Cytomegalovirus (CMV) Retinitis 234
Choroidal Hemangioma 158 Dacryocele 236
Choroidal Melanoma 160 Dacryocystitis 238
Choroidal Neovascularization 162 Del len 240
Choroidal Nevus 164 Dermatochalasis 242
Choroidal Rupture 166 Devic's Disease/Neuromyelitis Optica 244
Contents .xxvii
Diabetic Papillopathy 246 Gyrate Atrophy 330

Dissociated Strabismus 248 Hallucinations, Visual 332
Dominant Optic Atrophy 250 Hard Exudates 334
Double Elevator Palsy 252 Hemangioma in Children 336
Down Syndrome 254 Herpes Simplex 338
Dry Eye Syndrome 256 Herpes Zoster Ophthalmicus 340
Duane Syndrome 258 HIV/AIDS-Related Retinopathies 342
Dyslexia 260 Hom ocysti nuria 344
Eales Disease 262 Horner Syndrome 346
Ectopia Lentis 264 Hypertensive Retinopathy 348
Ectropion 266 Hyphema 350
Ehlers-Danlos Syndrome 268 Hypotony 352
Endophthalmitis 270 Idiopathic Juxtafoveal Retinal Telangiectasia 354
Enophthalmos 272 Idiopathic Orbital Inflammatory Syndrome (Orbital
Entropion 274 Pseudotumor) 356
Epiphora 276 Intermediate Uveitis and Pars Planitis 358
Epiretinal Membranes 278 Internuclear Ophthalmoplegia 360
Episcleritis 280 Interstitial Keratitis (IK) 362
Esotropia: Com itant 282 Intraoperative Floppy Iris Syndrome (IFIS) 364
Esotropia: lncomitant 284 lridocorneal Endothelial (ICE) Syndrome 366
Esotropia: Infantile 286 Iris Atrophy 368
Exodeviations Comitant 288 Iris Melanoma 370
Exodeviations lncomitant 290 Iris Nevus 372
Exposure Keratopathy 292 Iritis-Uveitis in Children 374
Eyelid Laceration 294 Isolated Oculomotor Nerve (Cranial Nerve Ill) Palsy 376
Eyelid Neoplasms, Benign 296 Isolated Trochlear Nerve (Cranial Nerve IV) Palsy 378
Eyelid Neoplasms, Malignant 298 Juvenile Idiopathic Arthritis-Related Uveitis 380
Fabry's Disease 300 Juvenile Xanthogranuloma
(Nevoxanthoendothelioma) 382
Familial Exudative Vitreoretinopathy 302
Kawasaki Disease 384
Fetal Alcohol Syndrome 304
Keratoconus 386
Floppy Eyelid Syndrome 306
Lacrimal Gland Tumors 388
Foreign Body Intraorbital 308
Lagophthalmos & Lid Retraction 390
Foveal Hypoplasia 310
Lattice Corneal Dystrophy 392
Fractures, Orbital Floor 312
Lattice Degeneration 394
Fractures, Orbital Medial Wall 314
Leber Hereditary Optic Neuropathy 396
Fractures, White-Eyed Blowout 316
Lens-Induced Uveitis 398
Fuchs' Corneal Dystrophy 318
Leprosy 400
Fuch's Heterochromic Iridocyclitis 320
Leukemia/Blood Dyscrasias 402
Giant Cell Arteritis 322
Low Vision 404
Goldenhar Syndrome 324
Lowe Syndrome 406
Granulomatous Uveitis 326
Guillain-Barre Syndrome and Fisher Syndrome
Lyme Disease 408
Variant 328 Macular Corneal Dystrophy 410
:xxviii Contents
Macular Hole 412 Optic Nerve Hypoplasia 492

Malignant Glaucoma 414 Optic Neuritis 494
Marfan's Syndrome 416 Orbital Cellulitis 496
Meesmann's Corneal Dystrophy 418 Orbital Hemorrhage 498
Metastatic Tumors to the Eye and Adnexa 420 Orbital Rhabdomyosarcoma 500
MEWDS (Multiple Evanescent White Dot Syndrome) 422 Orbital Tumors: Congenital 502
Microphthalmia 424 Orbital Tumors: Metastatic 504
Migraine & Cluster Headache 426 Orbital Tumors: Vascular 506
Moebius Syndrome 428 Paget's Disease 508
Morning Glory Syndrome 430 Papilledema 510
Multifocal Choroiditis/Punctate Inner Choroiditis 432 Papilledema in Children 512
Myasthenia Gravis 434 Pattern Dystrophy 514
Myelinated Nerve Fibers 436 Pediatric Optic Nerve Hypoplasia 516
Myopic Degeneration 438 Pediculosis 518
Myotonic Dystrophy 440 Periocular Capillary Hemangioma 520
Nanophthalmos 442 Peripheral Corneal Ulcers 522
Nasolacrimal Developmental Anomalies 443A Persistent Fetal Vasculature (PFV) 524
Nasolacrimal Duct Obstruction 444 Persistent Hyperplastic Vitreous/Persistent Fetal
Nasolacrimal Duct Obstruction in Children 446 Vasculature 526
Neonatal Conjunctivitis 448 Peters Anomaly 528
Neovascular Glaucoma 450 Phacoanaphylactic Glaucoma 530
Neurofibromatosis 452 Phacolytic Glaucoma 532
Neuroprotection in Glaucoma 454 Phacomorphic Glaucoma 534
Neuroretinitis 456 Phlyctenular Keratoconjunctivitis 536
Non-Arteritic Anterior Ischemic Optic Neuropathy Pigmentary Glaucoma 538
(NAION) 458 Plaquenil Toxicity/Drug Toxicities 540
Non-Granulomatous Anterior Uveitis 460 Plateau Iris Glaucoma 542
Non-Physiologic Vision Loss 462 Polymyalgia Rheumatica 544
Normal Tension Glaucoma 464 Posner-Schlossman Syndrome
Norrie Disease 466 (Glaucomatocyclitic Crisis) 546
Nystagmus, Acquired 468 Posterior Embryotoxon 548
Nystagmus, Congenital 470 Posterior Polymorphous Corneal Dystrophy 550
Occipital Lobe Disorders 472 Posterior Staphyloma 552
Ocular Adnexal Lymphoma (OAL) 474 Posterior Vitreous Detachment 554
Ocular Hypertension 476 Pregnancy and Ophthalmic Disease 556
Ocular Ischemic Syndrome 478 Presbyopia 558
Ocular Surface Squamous Neoplasia (OSSN) 480 Preseptal Cellulitis 560
Ocular Syphilis 482 Presumed Ocular Histoplasmosis Syndrome 562
Open-Angle Glaucomas 484 Primary Optic Nerve Sheath Meningioma (ONSM) 564
Ophthalmic Sarcoidosis 486 Proliferative Diabetic Retinopathy 566
Optic Disc Coloboma 488 Pseudoexfoliation Syndrome 568
Optic Nerve Cupping 490 Pseudopapilledema 570
Optic Nerve Glioma (OPG) 491A P1erygium 572
P1osis 574
Contents xxix
Ptos is-Cong en itaI 576 Stevens-Johnson Syndrome 648

Pupillary Block Glaucoma 578 Stickler Syndrome 650
Purtscher's Retinopathy 580 Sturge-Weber Syndrome 652
Radiation Keratopathy 582 Subconjunctival Hemorrhage 654
Radiation Optic Neuropathy 584 Superior Limbic Keratoconjunctivitis (SLK) 656
Radiation Retinopathy 586 Sympathetic Ophthalmia 658
Recurrent Corneal Erosion Syndrome 588 Systemic Lupus Erythematosus (SLE) 660
Red Eye in Children 590 Talc Retinopathy 662
Refractive Error (Myopia, Hyperopia, Astigmatism) 592 Terson's Syndrome 664
Reis-Bucklers Corneal Dystrophy 594 Thygeson's Superficial Punctate Keratopathy 666
Reiter's Syndrome (Reactive Arthritis) 596 Thyroid Eye Disease 668
Relative Afferent Pupillary Defect (RAPD) 598 Thyroid Optic Neuropathy 670
Retina Coats' Disease 600 Tilted Disc Syndrome 672
Retina Retinoblastoma 602 Toxic Anterior Segment Syndrome (TASS) 674
Retinal Break 604 Toxic Keratoconjunctivitis 676
Retinal Hemorrhages 606 Toxic Optic Neuropathy (Including Nutritional) 678
Retinal Macroaneurysm 608 Toxocariasis 680
Retinal Microaneurysms 610 Toxoplasmosis 682
Retinal Vascular Tumors 612 Trachoma 684
Retinal Vasoproliferative Tumor 614 Transient Visual Loss 686
Retinal/Choroidal Coloboma 616 Traumatic Glaucoma 688
Retinitis Pigmentosa 618 Traumatic Optic Neuropathy 690
Retinopathy of Prematurity 620 Trichiasis 692
Rhegmatogenous Retinal Detachment 622 Tuberculosis in the Eye 694
Rubella (German Measles) 624 Tuberous Sclerosis 698
Salzmann's Nodular Degeneration 626 Uveitis-Giaucoma-Hyphema (UGH) Syndrome 700
Sarcoidosis 628 Vitamin A Deficiency/Xerophthalmia 702
Schnyder's Corneal Dystrophy (SCD) 630 Vitreoretinal Lymphoma 704
Scleritis 632 Vogt-Koyanagi-Harada's Syndrome (Uveomeningitis) 706
Serous (Exudative) Retinal Detachment 634 Von Hippei-Lindau Disease 708
Serpiginous 636 Wegener's Granulomatosis 710
Seventh Cranial Nerve Palsy 638 Weill-Marchesani 712
Sjogren's Syndrome 640 Wilson's Disease 714
Solar Retinopathy 642 Wyburn-Mason Syndrome 716
Stargardt Disease 644 X-Linked Retinoschisis 718
Steroid-Induced Glaucoma 646 Index 721
CONTENTS-BY SUBSPECIALTY
Anterior Segment/Cornea Keratoconus (algorithm) 21

Acute Conjunctivitis (algorithm) 1 LAS IK Postoperative Complications-Com plaints of
Blurred Vision (algorithm) 22
Allergic Conjunctivitis 68
Anterior Basement Membrane Dystrophy
Lattice Corneal Dystrophy 392
88
Arcus Senilis
Low Vision 404
90
Band Keratopathy
Low Vision Management (algorithm) 25
96
Benign Conjunctival Lesions 102
Macular Corneal Dystrophy 410
Blepharitis 112
Meesmann's Corneal Dystrophy 418
Night Blindness (algorithm) 28
Blepharitis (algorithm) 3
Bullous Keratopathy 122
Pediculosis 518
Peripheral Corneal Ulcers 522
Cataracts 128
Phlyctenular Keratoconjunctivitis 536
Cataract: Age-Related (algorithm) 5
Photorefractive Keratotomy (Early) (algorithm) 30
Central Corneal Ulcers 140
Photorefractive Keratotomy (Late) (algorithm) 31
Chemical Burns 148
Posterior Polymorphous Corneal Dystrophy 550
Cicatricial Pemphigoid (CP)/Mucous Membrane
Pemphigoid (MMP) 174 Presbyopia 558
Conjunctival and Corneal Foreign Bodies 198 Preseptal Cellulitis 560
Conjunctival and Corneal Lacerations 200 Pterygium 572
Conjunctivitis, Acute Bacterial 210 Radiation Keratopathy 582
Conjunctivitis, Acute Viral 212 Recurrent Corneal Erosion Syndrome 588
Contact Lens Complications 214 Recurrent Corneal Erosion Syndrome (algorithm) 35
Corneal Abrasion 218 Refractive Error (Myopia, Hyperopia, Astigmatism) 592
Corneal Edema (algorithm) 10 Reis-Bucklers Corneal Dystrophy 594
Corneal Transplant Complications 220 Salzmann's Nodular Degeneration 626
Crystalline Keratopathy 230 Schnyder's Corneal Dystrophy (SCD) 630
De lien 240 Stromal Corneal Dystrophies (algorithm) 40
Dry Eye (algorithm) 13 Subconjunctival Hemorrhage 654
Dry Eye Syndrome 256 Subluxated or Dislocated Lens (algorithm) 41
Episcleritis 280 Superior Limbic Keratoconjunctivitis (SLK) 656
Exposure Keratopathy 292 Thygeson's Superficial Punctate Keratopathy 666
Fabry's Disease 300 Toxic Anterior Segment Syndrome (TASS) 674
Fuchs' Corneal Dystrophy 318 Toxic Keratoconjunctivitis 676
Herpes Simplex 338 Trachoma 684
Herpes Zoster Ophthalmicus 340 Vitamin A Deficiency/Xerophthalmia 702
Hyphema 350 Glaucoma
Interstitial Keratitis (IK) 362 Acute Primary Angle-Closure Glaucoma 54
Intraoperative Floppy Iris Syndrome (IFIS) 364 Acute Primary Angle Closure Glaucoma (algorithm) 2
Keratoconus 386 Axenfeld-Rieger Syndrome 94
XXX
Contents-By Subspecialty xxx:i
Blebitis 110 Devic's Disease/Neuromyelitis Optica 244

Congenital and Infantile Glaucoma 186 Diabetic Papillopathy 246
High lOP in Children (algorithm) 18 Dominant Optic Atrophy 250
Hypotony 352 Giant Cell Arteritis 322
lridocorneal Endothelial Syndrome (algorithm) 19 Guillain-Barre Syndrome and Fisher Syndrome
lridocorneal Endothelial (ICE) Syndrome 366 Variant 328
Lens-Related Glaucoma (algorithm) 23 Hallucinations, Visual 332
Lowe Syndrome 406 Horner Syndrome 346
Malignant Glaucoma 414 Internuclear Ophthalmoplegia 360
Malignant Glaucoma (algorithm) 26 Isolated Oculomotor Nerve (Cranial Nerve Ill) Palsy 376
Nanophthalmos 442 Isolated Trochlear Nerve (Cranial Nerve IV) Palsy 378
Neovascular Glaucoma 450 Leber Hereditary Optic Neuropathy 396
Neuroprotection in Glaucoma 454 Migraine & Cluster Headache 426
Normal Tension Glaucoma 464 Myasthenia Gravis 434
Ocular Hypertension 476 Neuroretinitis 456
Open-Angle Glaucomas 484 Non-Arteritic Anterior Ischemic Optic Neuropathy
(NAION) 458
Optic Nerve Cupping 490
Non-Physiologic Vision Loss 462
Peters Anomaly 528
Nystagmus, Acquired 468
Phacoanaphylactic Glaucoma 530
Occipital Lobe Disorders 472
Phacolytic Glaucoma 532
Optic Nerve Glioma (OPG) 491A
Phacomorphic Glaucoma 534
Optic Nerve Hypoplasia 492
Pigmentary Glaucoma 538
Optic Neuritis 494
Plateau Iris Glaucoma 542
Papilledema 510
Posner-Schlossman Syndrome
(Glaucomatocyclitic Crisis) 546 Primary Optic Nerve Sheath Meningioma
(ONSM) 564
Posterior Embryotoxon 548
Pseudopapilledema 570
Pseudoexfoliation Syndrome 568
Radiation Optic Neuropathy 584
Pupillary Block Glaucoma 578
Relative Afferent Pupillary Defect (RAPD) 598
Secondary Angle-Closure Glaucoma (algorithm) 39
Seventh Cranial Nerve Palsy 638
Steroid-Induced Glaucoma 646
Thyroid Optic Neuropathy 670
Traumatic Glaucoma 688
Toxic Optic Neuropathy (Including Nutritional) 678
Uveitis-Giaucoma-Hyphema (UGH) Syndrome 700
Transient Visual Loss 686
Neuro-Ophthalmology
Transient Visual Loss (algorithm) 44
Abducens/Cranial Nerve VI Palsy Sixth (VI) Traumatic Optic Neuropathy 690
Nerve Palsy 46
Oculoplastics
Adie Tonic Pupil 58
Bartonella Neuroretinitis 98 Canaliculitis 124
Blepharospasm and Hemifacial Spasm 114 Carotid Cavernous Fistula 126
Cavernous Sinus Syndrome/Orbital Cavernous Hemangioma of the Orbit 130
Apex Syndrome 134 Cavernous Sinus Thrombosis 136
Chiasma! Disorders 150 Chalazion 146
Chronic Progressive External Ophthalmoplegia Dacryocystitis 238
(CPEO) 172 Dermatochalasis 242
:xxxii Contents-By Subspecialty
Ectropion 266 Conjunctival Lymphoma 202

Enophthalmos 272 Conjunctival Lesion (algorithm) 8
Enopthalmos (algorithm) 14 Conjunctival Melanoma 204
Entropion 274 Conjunctival Nevus 206
Epiphora 276 Conjunctival Primary Acquired Melanosis 208
Eyelash Loss (algorithm) 16 Conjunctival Tumors (algorithm) 9
Eyelid Laceration 294 Iris Melanoma 370
Eyelid Neoplasms, Benign 296 Iris Nevus 372
Eyelid Neoplasms, Malignant 298 Iris Tumors (algorithm) 20
Eyelid Swelling (algorithm) 17 Metastatic Tumors to the Eye and Adnexa 420
Floppy Eyelid Syndrome 306 Ocular Surface Squamous Neoplasia (OSSN) 480
Foreign Body Intraorbital 308 Orbital Rhabdomyosarcoma 500
Fractures, Orbital Floor 312 Pigmented Conjunctival Lesion(s} (algorithm) 32
Fractures, Orbital Medial Wall 314 Retina Coats' Disease 600
Fractures, White-Eyed Blowout 316 Retina Retinoblastoma 602
Idiopathic Orbital Inflammatory Syndrome Retinal Vascular Tumors 612
(Orbital Pseudotumor) 356 Retinal Vasoproliferative Tumor 614
Idiopathic Orbital Inflammatory Syndrome, Atypical Vitreoretinal Lymphoma 704
(algorithm) 18A
Pediatrics
Idiopathic Orbital Inflammatory Syndrome, Typical
(algorithm) 18B Achromatopsia 48
Lacrimal Gland Tumors 388 Aicardi Syndrome 64
Lagophthalmos & Lid Retraction 390 Amblyopia 74
Nasolacrimal Duct Obstruction 444 Anisocoria in Children 82
Ocular Adnexal Lymphoma (OAL) 474 Anisometropia 84
Orbital Cellulitis 496 Anophthalmia 86
Orbital Hemorrhage 498 Blind Baby 116
Orbital Tumors: Congenital 502 Brown Syndrome 120
Orbital Tumors: Metastatic 504 Child Abuse 152
Orbital Tumors: Vascular 506 Coloboma 178
Periocular Capillary Hemangioma 520 Congenital and Pediatric Cataracts 188
Proptosis (algorithm) 33 Congenital Hyperpigmented Abnormalities of the
Ptosis 574 Fundus 190
Ptosis (algorithm) 34 Congenital Hypopigmented Retinal Lesions 194
Retinal Vascular Tumors 612 Convergence Insufficiency 216
Tearing (algorithm) 42 Craniosynostoses 224
Thyroid Eye Disease 668 Dacryocele 236
Trichiasis 692 Dissociated Strabismus 248
Double Elevator Palsy 252
Oncology
Duane Syndrome 258
Choroidal Hemangioma 158 Ectopia Lentis 264
Choroidal Melanoma 160 Esotropia (algorithm) 15
Choroidal Nevus 164 Esotropia: Comitant 282
Choroidal Tumor (algorithm) 7 Esotropia: lncomitant 284
Contents-By Subspecialty .xxxiii
Esotropia: Infantile 286 Central Serous Chorioretinopathy 144

Exodeviations Comitant 288 Choroidal Effusion/Detachment 154
Exodeviations lncomitant 290 Choroidal Folds (algorithm) 6
Fetal Alcohol Syndrome 304 Choroidal Neovascularization 162
Foveal Hypoplasia 310 Chronic Iridocyclitis 170
Goldenhar Syndrome 324 Clinically Significant Diabetic Macular Edema (CSME) 176
Hemangioma in Children 336 Commotio Retinae (Berlin's Edema) 182
Iritis-Uveitis in Children 374 Congenital Hypertrophy of the Retinal Pigmented
Kawasaki Disease Epithelium (CHRPE) 192
384
Leukocoria (algorithm) Congenital Pit of the Optic Disc 196
24
Microphthalmia Cotton Wool Spots 222
424
Moebius Syndrome 428 Cotton Wool Spots (algorithm) 11
Myelinated Nerve Fibers 436 Crystalline Retinopathy (algorithm) 12
Nasolacrimal Developmental Anomalies 443A Cystoid Macular Edema 232
Nasolacrimal Duct Obstruction in Children Cytomegalovirus (CMV} Retinitis 234
446
Neonatal Conjunctivitis Endophthalmitis 270
448
Neonatal Conjunctivitis (algorithm) Episcleritis 280
27
Norrie Disease Familial Exudative Vitreoretinopathy 302
466
Nystagmus, Congenital Granulomatous Uveitis 326
470
Idiopathic Juxtafoveal Retinal Telangiectasia 354
Optic Disc Coloboma 488
Intermediate Uveitis and Pars Planitis 358
Papilledema in Children 512
Pediatric Optic Nerve Hypoplasia Multifocal Choroiditis/Punctate Inner Choroiditis 432
516
Posterior Staphyloma Myopic Degeneration 438
552
Ptos is-Cong en itaI Non-Granulomatous Anterior Uveitis 460
576
Red Eye in Children Ocular Hypertension (algorithm) 29
590
Retinal Hemorrhages Ocular Ischemic Syndrome 478
606
Stickler Syndrome Pattern Dystrophy 514
650
Tilted Disc Syndrome Persistent Fetal Vasculature (PFV} 524
672
Persistent Hyperplastic Vitreous/Persistent Fetal
Retina/Vitreous Vasculature 526
Acute Retinal Necrosis/Necrotizing Herpetic Retinitis Posterior Vitreous Detachment 554
56
Age-Related Macular Degeneration and Polypoidal Proliferative Diabetic Retinopathy 566
Choroidal Vasculopathy 60 Radiation Retinopathy 586
Age-Related (Senile) Retinoschisis 62 Retinal Break 604
Amaurosis Fugax 72 Retinal Detachment (algorithm) 36
AMPPE (Acute Multifocal Placoid Pigment Retinal Hemorrhage (algorithm) 37
Epitheliopathy) 78 Retinal Macroaneurysm 608
Bartonella Neuroretinitis 98 Retinal Microaneurysms 610
Best's Vitelliform Macular Dystrophy 104 Retinal Neovascularization (algorithm) 38
Birdshot Chorioretinopathy 106 Retinopathy of Prematurity 620
Branch Retinal Vein Occlusion (BRVO) 118 Scleritis 632
Bull's Eye Maculopathy (algorithm) 4 Stargardt Disease 644
Central and Branch Retinal Artery Occlusion 138 Terson's Syndrome 664
Central Retinal Vein Occlusion (CRVO) 142 Toxic Retinopathies (algorithm) 43
:xxxiv Contents-By Subspecialty
Toxocariasis 680 Uvea

Toxoplasmosis 682 Acute Anterior Uveitis 52
Vasculitis (algorithm} 45 AMD-Dry 76
Systemic Angioid Streaks 80
Acne Rosacea 50 Behcet's Disease 100
Albinism 66 Cavernous Hemangioma of the Retina 132
Alpert Syndrome 70 Choroidal Folds 156
Ataxia-Telangiectasia (Louis-Bar Syndrome, AT Choroidal Rupture 166
Syndrome, Boder-Sedgwick Syndrome) 92 Choroideremia 168
Birth Trauma to the Eye 108 Cone Dystrophy 184
Coloboma: Eyelid, Iris, Optic Nerve, Retina 180 Eales Disease 262
Crohn's Disease & UC 226 Epiretinal Membranes 278
Crouzon Syndrome 228 Fuch's Heterochromic Iridocyclitis 320
Down Syndrome 254 Gyrate Atrophy 330
Dyslexia 260 Hard Exudates 334
Ehlers-Danlos Syndrome 268 HIVI AIDS-Related Retinopathies 342
Homocystinuria 344 Hypertensive Retinopathy 348
Juvenile Xanthogranuloma Iris Atrophy 368
(Nevoxanthoendothelioma) 382 Juvenile Idiopathic Arthritis-Related Uveitis 380
Leprosy 400 Lattice Degeneration 394
Lyme Disease 408 Lens-Induced Uveitis 398
Marfan's Syndrome 416 Leukemia/Blood Dyscrasias 402
Myotonic Dystrophy 440 Macular Hole 412
Neurofibromatosis 452 MEWDS (Multiple Evanescent White Dot Syndrome) 422
Ocular Syphilis 482 Morning Glory Syndrome 430
Paget's Disease 508 Ophthalmic Sarcoidosis 486
Polymyalgia Rheumatica 544 Plaquenil Toxicity/Drug Toxicities 540
Pregnancy and Ophthalmic Disease 556 Presumed Ocular Histoplasmosis Syndrome 562
Reiter's Syndrome (Reactive Arthritis) 596 Proliferative Diabetic Retinopathy 566
Rubella (German Measles) 624 Purtscher's Retinopathy 580
Sjogren's Syndrome 640 Retinal/Choroidal Coloboma 616
Stevens-Johnson Syndrome 648 Retinitis Pigmentosa 618
Sturge-Weber Syndrome 652 Rhegmatogenous Retinal Detachment 622
Systemic Lupus Erythematosus (SLE) 660 Sarcoidosis 628
Tuberculosis in the Eye 694 Serous (Exudative) Retinal Detachment 634
Tuberous Sclerosis 698 Serpiginous 636
Von Hippei-Lindau Disease 708 Solar Retinopathy 642
Wegener's Granulomatosis 710 Sympathetic Ophthalmia 658
Weill-Marchesani 712 Talc Retinopathy 662
Wilson's Disease 714 Vogt-Koyanagi-Harada's Syndrome (Uveomeningitis) 706
Wyburn-Mason Syndrome 716 X-Linked Retinoschisis 718
Acute ConiuncUviUs
ACUTE CONJUNCTIVITIS
Follicles present
Mucoid/purulent Preauricular lymph

node and/or sick
contacts?
Colleen Halfpenny
1
Acute Primary Angle Closure Glaucoma
ACUTE PRIMARY ANGLE CLOSURE GLAUCOMA
Signs and symptoms may include ocular pain, decreased vision,

nausea, edematous cornea, shallow anterior chamber, and mid-dilated
pupil. Gonioscopy shows angle closure. Intraocular pressure is elevated.
I
I Pupillary block II
Medical management with topical
and oraVIV agents as necessary
to lower intraocular pressure
I
Perform laser peripheral
iridotomy if possible. Consider
topical glycerin if the cornea
is edematous.
If laser peripherallridotomy If peripherallridotomy Is If laser peripheral lrldotomy

is successful and the prassure successful but pressure is unsuccessful or if it is not
is controlled is Lr!controlled possible to be performed
I I I
If the angle remains Consider argon laser
Consider peripheral closed or very narrow, peripheral iridoplasty
iridotomy in the other eye consider other mechanisms if possible
(e.g., aqueous misdirection)
I
Follow patient to: assess If angle appears open If neither laser peripheral
continued patency of but pressure remains iridotomy or lridoplasty are
lrldotomy, gonioscope to uncontrolled, consider able to be performed, or if
ensure angle remains open, filtering procedure neither procedure is successful
evaluate intraocular pressure
and optic nerve for signs I
of glaucoma Peripheral iridectomy.
Consider filtering procedure if
optic nerve appears
significantly damaged.
Tak Yee Tania Tai
2
BlephariUs
BLEPHARITIS
I Blepharitis: Management
I
I I I
I Mild ~ I Moderate I I Severe ~
I I I
Corneal stromal,
Inspissated oil
Crusting, thickened infiltrates,
glands, telar9e<:tatic
eyelid margins vascularization, skin
lid margins
rosacea, rhinophyma
I I I
Eyelid hygiene, warm Warm compresses, Oral antibiotics
compresses, margin topical antibiotics {doxycycline, minocycline,
scrubs, artificial tears, {azlthromycln, bacitracin, azlthromycin), topical
topical antibiotics erythromycin), steroids {short term),
(ointment or drugs) artificial tears topical antibiotics
Colleen Halfpenny
3
Dull's Eye Maculopathy
BULL'S EYE MACULOPATHY

Description: Central foveal hyperpigmentation surrounded by a ring ares of hypopigmentation

Key History:

Key Ophthalmic Exam & Ancillary Tests:
Age VIsual acuity

Symptoms (central visual acuity (VA) loss, color vision, Color vision
photophobia) Fluorescein angiogram
PMH (rheumatologic diseases, neurologic disease) Electroretinogram
Systemic and herbal meds (plaquenil) VIsual field
Family history of vision loss
l l
Ocular Diseases: Systemic Diseases: Medication Toxicity:
1. Cone dystrophy 1. Juvenile neuronal ceroid 1. Hydroxychloroqulne (Piaquenil)

2. Stargardt'a (flndua flavimaculatus) llpofuaclnoela (aka; Splalmeyer- 2. Chloroquine (Aralen)
3. Age-related macular Vogt-Sj6gren dl....a, 3. Clofazi'nine (Lamprene)
degeneration (ARMD) Batten dlaeaae, JNCL) 4. Uva ursi (tea extract)
4. Central areolar choroidal 2. Bardet-Biedl syndrome
dystrophy 3. Hal ervorden-Spa1z syndrome
5. Benign concentric amular 4. Fucosldosis
macular dystrophy 5. Leigh disease
6. Fenestrated sheen
macular dystophy
7. Leber's congenital
amaurosis
I
~
Age< 30
'
Cone Dystrophy
Central VA loss
Age<SO
'
Stargardt's
Central VA loss
Age> 50
ARMD
Dry or Wet
Ages4-8
JNCL
Neurodegeneraliva
Hydroxychloroquine
or Chloroquine
Dose-dependent effect
Abnormal color VA Aut Rae > Aut Dom. DFE: Drusen, retinal lysosomal storage Plaquenl : >6.5rng/kg/day
Photophobia Accum. of liposfucin pigment epithelium disease Chloroquine: >3mg/kg/day
Dilated fundus DFE: yellow flecks or (RPE) changes, Rapidly progressive Basad on ideal body weight
examination (DFE): "Bull's Eye" later in geographic atrophy, VA loss Central VA loss
normal early in disease subretinal fluid, Seizuras, ataxia DFE: Early RPE changes,
disease; later Fluorescein subrelinal DFE: "Bull's Eye" later "Bull's Eye" changes
"Bull's Eye" changes angiogram (FA): hemorrhage ERG: Electronegative Humphrey visual field (HVF):
Electroretinogram "Silent choroid" FA: choiroldal early in the disease 1 0-2 red stimulus; paracentral
(ERG): Subnormal ERG: normal in early neovascuiar scotoma
cone function stages of disease membrane (CNVM) Retinopathy may progress
despite cassation of medication
Alok S. Bansal, Joseph I. Maguire
4
Cataract: Age-Related
CATARACT
I Cataract: Age related ~

I
I I I
Cortical Nuclear Posterior subcapsular
I I I
Yellowing of the lens Plaque-like formation in
Develops as spoke-like nucleus the posterior portion of
opacities in the anterior Increase in refractive the lens, usually in the
peripheral cortex index visual axis
I I I
Initial vision good Decreased distance Affects reading early,
Symptomatic glare vision glare
Often difficult to predict Refractive shift toward Also found with chronic
vision and symptoms myopia steroid use, radiation,
based on lens inflammation
appearance
Edward A. Jaeger
5
Choroidal Folds
CHOROIDAL FOLDS
Key History: Key Ophthalmic Exam: Ancllary Tests to consider.
Visual symptoms (metamorphopsia, VIsual acuity and refraction Fluorescein angiogram

pain, photophobia} Intraocular pressure ~can ultrasonography
Prior ocular surgery, trauma? Fundus exam w/ special attention to: Orbital CT/MRI
History of rheumatologlc disease? Disc edema?
Associated serous retinal detachment?
Mass lesion?
Inflammation?
Orbital exam (proptosis, rnoalty}
Male > Female 1. Postoperative 1. Posterior scleritis 1. Retrobulbar mass 1. Pseudopapilledema

Typically normal VA a. Cataract extraction 2. Vogt-Koyanagi- 2. Choroidal mass a. Optic disc drusen
Usually hyperopic b. Glaucoma filtration surgery Harada disease a. Melanoma b. Alagillea syndrome
Bilateral, asymmebic c. Vitrectomy 3. ldiopalhic orbital b. Metastasis 2. Papilledema
Associated with 2. Trauma inflammation 3. Thyroid eye diseasa
idiopathic weal 3. Cyclodialysis cleft 4. Scleral buckle
effusion 5. Retrobulbar anesthesia
Alok S. Bansal, Joseph I. Maguire
6
Choroidal Tumors
CHOROIDAL TUMORS
Common symptoms: blurred vision,

floaters, flashes, rarely pain
Congenital
hypertrophy
of retinal
pigmented
epithelium
(RPE)
Fine needle
aspiration
biopsy
Carol Shields
7
Conjunctival Lesions
CONJUNCTIVAL LESIONS
Common causes: pterygium, pingueculum,

nevus, melanoma, prmary acquired
melanosis, racial melanosis,
squamous cell carcinoma (SCC),
sebaceous CA, lymphoma/benign
reactive ly!Tllhoid hyperplasia (BRLH)
I
r Pigment ~
Yes No
I
Vascular (intrinsic
Yes
I Corneal
component
I No Yes
or feeders)
No
I I I
I Feeder vessel
nodule
I Bilateral
~ Corneal
component
Salmon color ~
Yes No ~s I No
I
Yes I No Yes
r
No
I Melanoma ~ ~I ~ ~
Pr1mary Cysts SCC/Cervical Papilloma Lymphoma/ White/
acquired
melanosis
I RacWJ
melanosis intraepithelial
neoplasia
ameloblastoma
news CINISCC
BRLH
amyloid
I gelatinous
I
(PAM) (CIN)
sebaceous
CA
pterygium
SebCA
~ Pinguaculum
SebCA
1
~s No
Nevus ~I PAM
~
Sara Lally
8
Conjunctival Tumors
CONJUNCTIVAL TUMORS
Conjunctival Tumors
(associated systemic
conditions)
Bilateral: HBID, CollYllon causes: Presence of

ring dermoid synd, congenital, fair cysts: nevus,
herniated fat complexion, aging, UV lymphangioma
exposure, tobacco use,
immunosuppr9SSion
Pigmented
Lymphangioma Complex
{Turner's synd; choristoma
Nonne Milroy (organoid
Miege) nevussynd)
Metastasis (skin Cavernous

melanoma) hemangioma
{Srurge Weber)
CIN ~
conjunctival intraepithelial neoplasia
HBID hereditary benign intraepithelial dyskeratosis in Haliwa Indians
~
MM ~multiple myeloma
PAM ~ primary acquired melanosis
sec ~ squamos cell carcinoma
Synd ~ syndrome
Hyunjin J. Kim
9
Corneal Edema
CORNEAL EDEMA
No
No
Early Pseudophakic or
postoperative aphakic bullous Inflammatory
edema keratopathy glaucoma (Iritis,
HSV, VZV, toxo,
CMV)
Neovascular
glaucoma
Angle-closure
glaucoma
Michael J. Pro
10
Cotton Wool Spots
COTTON WOOL SPOTS
Sm.~ II, whitish, fluffy, sll1htly ele1111bld lesions that appear to float within the Inner retina (soft Exudates)
Ulcely due to Interruption of axoplasmlc from focal Ischemia associated with occlusion of pre -capillary arterioles
A systemic e1111luatlon Is always warrantl!!d with thl!! finding of an Isolated cotton wool spot
I
I I I
I lachemlc ~ I Embolic ~ I Immunologic I lnt.ctlous I Neoplastic I I Traumatic I Taxlc I

I I I
Dlabl!!tes Mellitus
Hypertension
Carotid Emboli
Cardiac Emboli
Systemic Lupus
Erythematosus
HIV Infection
Rocky Mountain
Leukemia
MI!!tastatlc
SI!!VI!!re
Chest/Head
I
Interferon I
Ocular lschl!!mic (following cardiac Dermatomyositis Spotted FI!!VI!!r Carcinoma Trauma
Syndrome surgery) Polyarteritis en Scratch FI!!W!r Multiple (Purstcher's)
Retina I Vascular Deep Venous Nodosa (Bartol\l!!la Myeloma Ch ildbirth
Occlusion Emboli Scleroderma Henslae} Blood Post-Membra !\I!
Anemia Fore11n Bodies Behcet's Leptospirosis Dyscras1as Peel
Radiation (IVDA) Giant Cell Arteritis Onchocerciases NerVI! Fi bl!!r Lrf!!r
Air Emboli Cryollobulinemia Bacteremia uu:erlltlon
Flit Emboli (lone Hemolytic Fungemia
bone fractures) Uremla/Thombotlc
Pllncreatttis Thrombocytopenic
(White Blood Cell Purpurll Work-up:
Emboli) Chronic Ren..l Blood Pressure (Hypertension, RetJnal vascular Occlusion)
Failure CBC (Neoplasia, Blood Dyscrnlll, Anemlll, Thrombocytopenlll)
Metllbollc P11nel (Ren11l F11ilure, Coll;acen Vucul11r Dlseue)
Amylilse/Lipue (Pll ncrelltltls)
l<8y History: UA (Lupus, Renal Fa llure, Hemolytic Uremia}
Sexulll History HebAlC (Diabetes Mellitus)
Alalhoi/Druc Use SPEP (Multiple Myeloma, Waldenstrom's)
TraVI!!I HI story Blood Cultures (Bacterial Endocardit is, Fungemia}
Precnancy ANA (Lupus, Coll<~gen Vascular Diseue)
Past Med leal HI story ANCA (Polyarteritis Nodosa, Wegener's)
Recent Trauma/Surgery ESR/CRP (Collagen Vasculllr Disease, Endocarditis, Giant Cell
Med !cations Arteritis)
Review of Systems (Rashes, FeVI!!rs, Helldllches, Arth ralgias, Urine HCG (Precnancy)
Fatigue, Shortness of Breath, Chest Pain, Frequent Urination) HIV
Andre Witkin
11
Crystalline Retinopathy
CRYSTALLINE RETINOPATHY
Description: Crystalline deposits within the posterior segment including the retinal vasculature
I
Age
Vision loss (can be asymptomatic}
/
Key History:
\ '
Key Ophthalmic Exam & Ancillary Tests:
Location and color of crystals

Presence of macular edema
PMH (cardiovascular disease, HTN, br&ast cancer} Consider FA if intravascular crystal or retinal infarct
Systemic medication, health foods, oral tanning agents Carotid doppler if vascular risk factors
Intravenous drug use Diabetes testing if JFT
/ I \
Primary Ocular D i -
1. Juxtafovealtelangieclasis (JFT)
2. Bielll's crystalline dystrophy
Embolic Dl&eaaes
1. Calcium emboli
2. Cholesterol emboli
Systemic Diseases
1. Cystinosis Cnlantile fonn}

2. Oxalosis
1. Tamoxlfen
"
Medication Toxicity:
2. Can1h8XIIrlthlne
3. Calcified macular drusen 3. Platelet -ll:lr1n emboli 3. Hyperomilhinaemia 3. Talc (IV drug use)
4. Longstanding retinal detachment 4. S)Ogren-l.ars&on syndrome 4. Nitrofurantoin
5. Methoxyflurane anesthesia
--'
JFT
Telangiectatic
'
Bielti's crystalline dystrophy
Symptoms during 30s

'
Embolic Allllociallons
Calcium =while, distal

'
Cystinosis
Rare AR lysosomal
'
Tamoxifen
For treabnent of
capilar1es leading to Lmbal crystals not retinal infarct storage dison:ler hormone receptor
crystal deposition required for diagnosis Cholesterol =orange, Severe renal disea&e positive breast cancer
Tiny yelow crystals Yellow crystals at all often at vessel bifurcations Crystal deposits in Doae-dependen1 effect
anterior to ILM levels of retina =
Pllllelet- fibrin dull cornea, conjLI"ICIIva, but exact limit unknown
Can diMIIop maaJiar RPE lllrophy and white, often from and retina fl.7 grams or more}
edema and CNV pigment clumping carotid atheromas Crystals at level of RPE Crystals Ill inner retina
Allllociallon with AR and AD inheritance and choroid scattered around macula
diabetes throughout postarior pole May cause macular edema
Vision can improve after
stopping drug but crystals
typically remain
Char DeCroos
12
Dry Eye
DRY EYE
Aqueous deficient
Contact lens
vitamin A
Secondary defteiency
(RA, SLE, medication
Wegener's, (environmental)
scleroderma,
etc.)
Blepharitis (see
algorithm)
Idiopathic SurgicaV
(age-related?) radiation
Induced
Colleen Halfpenny
13
Enophthalmos
ENOPHTHALMOS
Enophthalmos
Orbital floor
fracture
No
Scirrhous breast History of orbital

carcinoma radiation or
metastatic to ortlit surgery
Katharine G. Gold
14
Esotropia
ESOTROPIA
New onset esotropia
I
I Previous
I
Comltant
I
~ lncomitant
I
~ surgery ~
for exotropia
I
Full examination Consider cranial If no other cause,
including vision and nerve palsy, orbital consider strabismus
cycloplegic refraction intracranial pathology surgery
or trauma, ocular
myasthenia,
thyroid eye disease
I I I
I Poor vision ~
one eye
Congenital
esotropia
~ IEqual vision ~
both eyes
I
Sensory esotropia
with possible
amblyopia
H~h ~
I hyperopia High
myopia
~ I refractive
No significant
error
I Nystagmus. Consider
MRI if no other cause
and if normal possible
I surgery for nystagmus
Treat cause of Prescribe ~ses Prescribe glasses blockage syndrome
vision loss and
reevaluate
appropriate for age
and reevaluate
and reevaluate
....,
esotropia
Consider
neuroimaging for
I Possible cyclic ~
esotropia
Nonaccommodative
convergence excess
intracranial esotropia
pathology for acute
onset com itant I
esotropia Consider
strabismus
I Orthophoric
in glasses
I Residual esotropia
at near. Prescribe
bifocal for high AC/A
Residual
esotropia at near
and distance
surgery
ratio and reevaluate
I
Orthophoric in I Residual esotropia
I bifocal Consider
glasses in bifocal glasses strabismus surgery
Consider strabismus
surgery for remai'ling
esotropia
Barry Wasserman, David Lally
15
Eyelash Loss
EYELASH LOSS
Eyelash loss ~
I (madarosis)
I
I
I Noeyelid
associated Associated ~
lesion
I eyelid lesion
1 Blepharitis 1
I
Trauma or
chemical injury
I
Trichotillomania ~ I Alopecia
areata
I Discoid lupus
(may or may not
have associated
Lesion with
benign
features
Lesion
suspicious for
malignancy
Treat chronic
10 the eyelids
I Behavioral ~ lesion) -1
inflammatory
Medication therapy IRheumatology ~
concition
induced (i.e.,
chemotherapy)
cansultation
I Biopsy (inclsional v.
excislonal) and
treatment
I observation
Close If any suspicion for
malignancy then biopsy
should be performed
Amanda Matthews
16
Eyelid Swelling
EYELID SWELLING
Eyelid swellng
Soft Insect Foreign Conjunctiuitis MediCBmentosa fistula Benign Malignant

tissue bite body lid lid
edema under Corrtact lesions lesions
lid dermalltls
Idiopathic Canaliculitis Mucocele Blepharitis Atopy Sarcoidosis Thyroid

orbital eye diseiiSB
inflammatory Mycobecterium
syndrome
Preseptal Hordedum
CEIIIUiitis
Michael Rabinowitz
17
High lOP in Children
HIGH lOP IN CHILDREN
I High lOP in children

< 3-4 years of age
I
I
~
Differentiate congenital/infantile glaucoma from
secondary and acquired forms of glaucoma in childhood
Other ocular/
systemic
I 1-Vo lensectomy7 I 1-Vo ocular
trauma?
~ I Hlo !uveitis? I
abnormalities
present?
Yes
I
I No Yes
I
No Yes
I
No Yes
I
No
Secondary Aphakic or Traumatic Uveltic

glaucoma: i.e.,
persistent ocular
pseudophakic
glaucoma
glaucoma
I glaucoma
fetal vasculature,
Axenfeld-Reiger
spectrum, aniridia,
retinopathy of
prematurity, Lowe
syndrome,
microspherophakia,
and other disorders
I Congenital/infantile glaucoma
~
Andrea Knellinger Sawchyn
18
Idiopathic Orbital Inflammatory Syndrome, Atypical
IDIOPATHIC ORBITAL INFLAMMATORY SYNDROME, ATYPICAL
Rheumatology consultation
for lmmunosuppressantsfmodulators
Katherine A. Lane, Jurij R. Bilyk
18A
Idiopathic Orbital Inflammatory Syndrome, Typical
IDIOPATHIC ORBITAL INFLAMMATORY SYNDROME, TYPICAL
Poor response o r
recurrence deslte adequate
dosage and taper
Specific inflammation
Consider intraorbital (granulomatous,
sterlods, NSAIDs, vasculitic)
XRT (? biopsy)
Rheumatology consultation
for immunosuppressants
Katherine A. Lane, Jurij R. Bilyk
188
lridocorneal Endothelial Syndrome
IRIDOCORNEAL ENDOTHELIAL SYNDROME
I Corneal edema
I Infant ~ Adult I
I
I ~
Congenital glaucoma
Congenital comeal I Bilateral ~ I With abnormal
iris findings
r Unilateral l
dystrophies
Birth tralM11a
Peter's anomaly Glaucoma (uncontrolled
Sclerocomea
Mucopolysaccharldosls
I Bl ateral I Unilateral I after intraocular surgery)
Trauma
Uveitis
Trauma
Neovascular
Fuch's endothelial
dystrophy glaucoma ~ Chandler's syndrome
Toxic reaction from (subet of ICE syndrome)
topical agents or systemic 1--
medications Slowly progressive
Posterior polymorphous Axenfeld-Rieger
"Hammered Silver"
dystrophy (PPMD) syndrome
endothelial appearance
Pigmentary glaucoma
with lriCOntroled
intraocular pressure
Iris news Progressive

syndrome iris atrophy
(subset of ICE (subset ot ICE
syndrome) syndrome)
Distorted pupl
(corectopia)
Iris atrophy
Glaucoma in
approximately 50% of
affected Individuals
Michael J. Pro
19
Iris Tumors
IRIS TUMORS
Common iris
tumors: nevus,
freckles, iris pigment
epithelium cysts
Children with Increased History of cancer

associated &kin intraocular with systemic
lesions and anterior pressure, anterior metastasis
chamber inflammation chamber seeding
~~~----~====I:==~ ~
Juvenle
xanthogranuloma
Iris
melanocytoma
Periodic observation every

6 months with slit lamp Increase intraocular
photographs and pressure and diffuse
ultrasound biomicroscopy anterior chamber
seeding
Plaque
brachylhefapy
Carlos Gustavo
20
Keratoconus
KERATOCONUS
I Diagnosis of keratoconus I
I
Based on history of progressive
astigmatism, clinical signs, and
corneal imaging studies
I
All patients should be counseled
on avoidance of eye Nbblng and
nocturnal eye pressure. Screen
patients for sleep apnea.
I
-
I
I andPre-clinical ~ Intermediate Advanced

I Acute hydrope
...lymga
I
I mge
I
No or limited clinical findings Pronounced corneal ectasia Prominent cone Sudden vision loss
but evidence of ectasia on
imaging studies and variable
with steepened apex and
pos&lble early scarring I and/or scarring
I
wilh pain, redness,
watering, photophobia
astigmatism on exam and haze
Poor contact lens Due to break in
May be difficult to Poor spectacle corrected and spec-corrected Desc. membrane
refract to 20120 visual acuity visual acuity
I
I Cyclopegia, hypertonic
Spectacle and contact Spectacle correction often Try rigid and saline and patching or
less correction typically unsatisfactory so offer speciaHy lens fittings a bandage contact lens
achieve satisfactory vision astigmatism correcting I for comfort until resolution
contact len686 (soft, rigid,
I Unsatisfactory
or hybrid)
Evidence of vision?
progression? I
Unsatisfactory
I vision? Cornea
transplantation
Corneal crosslinki"lg may be (DALK, PK, IEK)
considered (not yet FDA
approved) to slow progression Intrastromal ring segments
and flatten cornea may Improve vision and
contact lens tolerance
Brad Feldman
21
LASIK Postoperative Complications-Complaints of Blurred Vision
LASIK
Pollloperative compliclltiona: ~
I complllinta ol blurred viaion
118 the L.ASIK ftap ~

in position?
\tJB No
I Corneal opacity
on slit lamp exam?
II I Fllfl d..-..ton: requires llfl relloal
OOGwO~~gm~~
I
lolls I No
118 tllere a _red

eye or PM17
II 1~eye
tikHea red
or pain?
II
\tJB I No \tJB I No
I M~nulent I
dlecharge and a
I' a local I I Epilhalial dalact I I Ia the ocular
- -_ ....----.
fooal opacity? thereopacity?
corneal surface amooth
oltlle cornea?
and wr~kl&-lree?
---.,
'Ills I No lolls I No \tJs I No
\tJB No
I
COrnaal cultu..,
and..,..,..Lit
DII!Ho-
-to: .....
lllariY
,._.,,
llpllbol..l
Uouollycanbe ......... ..........

DlfrL1M .....I. . -LAIIIII:
...,_
Punclolll
Is tile blurred
Dry.,. Filii at.: Slit
viai01'1
--
lloptorcuiVoo lnlammolon -I'IIIMI,bo.C lnllornma1lonln tubrloalon.
alimi'lated with ayndrome: Sl lamp exam
--
end lrrlgollon I In the lop _.... ..,rg~coo~ 1hellopl-
~ bast apactacle
lamp...., &hews
irllorlaooLFottlled
lll'llibiolico.~
lnllorlaoe. Mild
...,....... end
--Flop
lnta~onllt
i en:;ra.ching
on the vi.,..
--"'*'"'
-do.
ben~
~IOpicol
lncr8MO
lubriclOiion.
con.-
corractlon? ahowa pooctate
epithelial
!lollf111108in
pooling
nln...,..taptc.l
I
III'Cblgolt end 1n1go11on. uto,couotoga IIDradlo ....-lplugo III'OIIIona. Treat highlighting
..................
-..y
...-. llapmolt,ar
lmpUingvlolon
by lrdlclng
prw.-ll<lllueo
lamelar-.r:llia.
-lldfWiono.
'Ills No
with aggraAive
lubrication and
toplcel ateroid8.
rklgaaln the
llap.ll the
irnog~B'
aatigmlllilm.
I 0vw w
und..-aor1'811tlan
fll""~ 8r'I'DI'
,II Normal
posll'8fnlc:tiw
topography?
I striae are
severe enough
to llltact vision,
aurglcel
tl'llfltnllnt is
\tJs I No ruqulred:
rwmcM~Iol
Hlgherwder filM! LASIK epilhallum,
-.rr.tiana: -ia:Comeal lifting and
Can be thinning and amoothlng ol
diagnosed wtth lnle!lor ftep.
wavefront staepenlng on
Imaging. Visual topography.
symptonns may Ttaatment
Include glare, oplona Include
haloe, and rlgldgu
doul*lg ol permeable
images. lenaea,
intrastromal
corneal ring
aagmenta, and
corneal
transplantation.
Elizabeth Hofmeister
22
Lens Related Glaucoma
LENS RELATED GLAUCOMA
No
History of trauma,
surgery, disruption of
lens capsule?
Yes No
Granulomatous uveitis, Iridescent particles,

keratic precipiates, white material in AC,
hypopyon hypermature cataract,
severe pain
White fluffy cortical

lens particles
intheAC
Rachel M. Niknam
23
Leukocoria
LEUKOCORIA
Persistent Retinal
Family history hyperplastic dysplasia,
of eye disease primary vitreous coloboma
~==:t:::::==..:N~o (PHPV)
Retinoblastoma
(or other Intraocular
malignancy)
Familial exudative
vitreo-retinopathy
Endophthalmitis (FEVR)
Incontlnentia
pigmenti
(females only)
Retinal
astrocytoma
Jonathan Salvin
24
Low Vision Management
LOW VISION MANAGEMENT
I Low vision refraction ~

(trail frame @ 1O')
I
No
r VA>20/40? I ~s
I
~ High plus (> + 600D) wortt-up ~ Able to read 1.0 M
with better eye @ near continuous text and
add<+ 4.00
I
I
Able to read 1.0 M
continuous text
I Yes No
~s No I +Give refraction with ~ Edmonds Rehab System -

3-4.00 diopter add start at level above
r best continuous text
High plus reading glasses for Edmonds Rehab System -
better eye. Occlude fellow eye. start at level above I
best continuous text
Follow-up in 6 weeks
Ret 3 months to consider
handheld magnifiers, telescopes, I Able to read 1.0 m
or electronic aids Follow-up in 6 weeks continuous text? (If no,
return to previous step)
Able to read 1.0 m
continuous text? (If no,
return to previous step)
I
High plus reading glasses for
I better eye. Occlude fellow eye.
High plus reading glasses for Ret 3 months to consider
better eye. Occlude fellow eye. handheld magnifiefs, telescopes,
or electronic aids
Ret 3 months to consider
handheld magnifiers, telescopes,
or electronic aids
Scott Edmonds
25
Malignant Glaucoma
MALIGNANT GLAUCOMA
1 Shallow anterior chamber (peripheral and central)

lOP: normal (if early) or high (more likely)
I
~
No pupillary block No simulating conditions
Patent iridotomy Choroidal hemorrhage/effusion
Other posterior space
occupying mechanism
I I
Mecical treatment
Cycloplegia+ mydriasis (i.e., atropine/phenylephrine)
lOP management (aqueous suppressants, osmotics if needed)
I
Laser treatment
Nd:YAG disruption of
anterior hyaloid face in
pseudophakic/aphakic
cendidates
I
Surgical management
Pars plana vltrectorny with
goal to create a unicameral
eye (ensure free communication
between iridotorny, zonules,
anterior hyaloid)
Anand Mantravadi
26
Neonatal ConiuncUviUs
NEONATAL CONJUNCTIVITIS
I
Chemical
conjunctivitis
(silver nitrate or
I co=tis ~
Congenital
nasolacrimal duct
obstruction
Chlamycla
trachomati9
I Herpes
simplex virus
~
gentamicin)
I ~leu~~ ~ ~
I
Observation,
and gram stain Nasolacrimru
sac massage
I -j Culture I H Virru culture I
lubrication, I
discontr.ue offending
agent or home ~medy I Gram negative I Gram positive ~ Toplcru antibiotic
coverage if
Erythromycin 50 Systemic acyclovir 60
- secondary
mglkg/day for
2-3weeka
mglkgfday divided in
3 doses lor 14-21 days
Appropriate topical infection evident
coverage of choice
balled on cultUres
Topical erythromycin Topical tlifluridine
I - ointment 4xlday for optional if systemic
----i Neisseria
gonorrhea
I I CXher gram
negative&
I 2-3 weeks optional therapy in&titutad
~ Treat mother and ~

Appropriate topical sexuru partners
Frequent saline
H irrigation coverage ol choice
based on cultures
Single dosa
cefltlaxone 25-50
m~ IV or IM (not
to exceed 125mg)
Treat mother and

H sexual partners
Test for other STOs

and start concomitant
treatment for chlamydia
Consider inpatient
admission for possible
systamic infection or
comaal involvement
Jonathan Salvin and Sharon Lehman
27
Night Blindness
NIGHT BLINDNESS (NYCTALOPIA)
Congenital? I
Yes _l No
~
I Progressive?
I
I
No
I History of surgery
ortr111.1ma?
I
_l
Yes I No
Retinitis I Normal fundus? Jl
pigmentosa (RP) Refractive Vitamin A
~ No
surgery deficiency
Progressive cone-rod (i.e., RK, (xerophthalmia)
dystrophy Congenital Oguchi's PRK, l.ask)
stationary night disease Drugs (i.e., alcohol,
Choroideremia bllndn988 (i.e., chloroquine, etc.)
X-linked) Fundus
Sorsby's fundus albipunctatus High myopia
dystrophy
Cataracts
Refsum's disease
Marlon Maus
28
Ocular Hypertension
OCULAR HYPERTENSION
10P>21 mm ~
Normal eye exam
I
Risk factors
Increased age
Family history ot primary
open-angle glaucoma
(POAG)
Pressure level
Central corneal thickness
Disc conftguration
Male gender
High myopia
No I lW
Close observation Discuss with patient the

Monitor similar to POAG risk of POAG development
for several years Decide to treat or observe
I
I
Observe
~ I Treat
~
I I
Close observation Topical medications,
Monitor similar to POAG selective laser
for several years trabeculoplasty (SLT)
Close monitoring similar to
POAG for several years
I
I Nodamage ~
I
Consider stopping treatment
and monitoring closely
Tara A. Uhler
29
Photorefractive Keratotomy Complications (Early)
Photorefractive Keratotomy Complications (Early)
Photorefractive
keratotomy: earty
postoperative
complications (week 1)
Colfl)laints of
blurred vision
Pain/red f1Y8?
Yes I No
I Corneal opacity on Normal post-op course.

sit lamp exam? Visual recovery occurs
gradually after PRK
Yes I No
I
Mucopurulent Bandage contact ~

discharge, surroooding lens in place?
corneal edema,
Yes I No
persistent epithelial
Yes
defect
I No
I
I
Contact lens
moves well?
I I Epithelial defect
of cornea?
~
Yes I No Yes I No
Infectious keratitis: Central toxic
Remove and culture
bandage contact lens
Corneal cultures
keratopathy:
Bland central opacity
without significant
Using post op
eye drops
I
TiltJt bandage
contactlens.Ren10ve
~ Replace bandage ~
contact lens
l Dry ocular surface:
increase lubrication
~
and smears inllamrnation and oral lens and replace
Fortified anti:Jiotlcs Usualy appears after pain mads? with a lens with
Consider antilungals epithelial defect a flatter base curve.
if feathery edge or has healed
satellite lesions
Yes No
Normal postoperative Patient education

course: reassurance regarding proper
and close follow-up post-op rneds
30
Photorefractive Surgery Complications (Late)
Photorefractive Surgery Complications (Late)
Photorefractive
keratotomy: late
complications (second
postoperative week
and beyond)
I Complaints of
blurred vision
I
I Pain/red eye? I
Yes I No
Was the surgical Is there a I

epithelial defect
doc~.mented as healed?
I comeal opacity? II
Yes I No Yes No
I
I
Is there a new
epithelial defect?
1 Delayed epithelialization:
increases risk for scarring
Yes 1 No and haze. Treat
aggressively with
management of ocular
surface disease and dry
eye. Watch for secondary
infectious keratitis.
Recurrent corneal erosion: Dry ocular surface: ~

AHhough PRK and increase lubrication. I
phototherapeutic keratectomy
(PTK) can be curative for patients I
with recurrent corneal erosins,
Reticular or lacy central DenM, dlecltorm central Normal post-op cou ....:
they can oocaslonally occur de
opacitiea: Post PRK Haze opacity: Central Toxic Visual recovery after PRK
novo following PRK. Unlike typical
No associated inflammation Keratopathy requires 3-6 months.
recurrent erosions caused by
Manifest refraction Encourage the use of
shearing trauma, post PRK Bland central opacity
shows myopia and/or topical lubricants and
recurrent erosions respond well without significant
astigmatism treat lid margin disease.
to aggressive topical lubricants inftammation
and bandage contact lens and Risk factors include Associated with comeal
seldom require surgical intervention. deeper ablation depths, flattening or thinning with
noncompliance with associated hyperopia
topical steroid regimen, Does not improve with
and UV exposure topical steroids, but can
Often Improves with gradually improve over time
topical steroids. Patients
on long steroid regimens
must be monitored closely
for steroid-induced
increase lOP.
31
Pigmented Conjunctival Lesion(s)
PIGMENTED CONJUNCTIVAL LESION(S)
No
Observation
versus excisional
biopsy
Britt Parvus
32
Proptosis
PROPTOSIS
Check exophthalmomelry
Check lid position
,...-
Rule out 8110phthalmos,
lid retraction Normal expophthalmometry
Pain ismore commonly - measurements vary by
~
gender and race
associated with
lnllammatory conditions Contralateral Up to 2 mm difference
enoplhalmos or between the two sides may
Neoplastic process often
present WI'th painless proptosis ~ Pain? ed
lid ratraction may
give appearance of
r--- be within nonnallimits
Caution if eyes ara not
Presence of numbness may apparent proptosis aligned: if the aye being
indicate neuropathic spread of measured is not centrally
tumor (e.g ., squamous CA) aligned an inaccurate
-
measurament may result
'-
l l
Adul:
~ I Child
~
I Inflammatory l!--
II.g., Thyroid IIY8 disll888
11 cause of bilateral proptosis
11 cause of unlateral p!OpiO&is
rTiming 'of onset I
I
lcJiopBthlc OI1JitB/ lnllammatlon
I Congenital ~ r Gradual ~ I '
Acute ~
I Infectious
1 e.g., Orl:Jital CBIIulitis
1
Primary vs. rnefastic e.g., Dllrmoid cyst Neoplastic lnffsmmatorylinfectious
I Neoplastic It- bntast, lung, prostate
reprasent common mets
Capillary hemangioma
TIMitoma
e.g., Schawannatr~~~,
mllflingiomB
e.g., cellulill& = i# 1 cause
of proptosis In children
Scirrhous breast CA may Vascular Neoplastic
ll.g., varix e.g., Rhabdomyosancoma
9.(1., Gai/9/TIOUS
Vascular
e.g., lymphangioma
I Vascular
1- h91'Tll111(11oma
Varix
Lymphsngioma
I
I
~
otrtan Imaging ' ~
Obtain imaging:
CTvs. MRI
CT: balhtr at imaging bony anatomy, faster,
cheaper, easier to access; caution when
ordering in children due to radiation exposure
MRI: better soft tissue resoltlon, better BValuatlon
of brain parenchyma, better evaluation of
VBIICI.IIar lesions
Orttal ultrasound: consider In vascular lesions
Vladimir Yakopson
33
Ptosis
PTOSIS
I
I I
l Congenital ~ Acquired
~
I I
I Levator ,
dysgenesis
~ [ T ra~.matic Pseudo-ptosis
(other ophthalmic
No other
ophthalmic
abnormalities) abnormalities
Neurogenic:
congenital Homers,
3rd nerve
Other:
blepharophlmosis,
double elevator
~ Enopththalmus or
microphthalmia
Pupils ~ syndrome
H~ners I
palsy, synkinetic palsy
-----1 + Anisocoria It-
~ Peri-orbital
-
Cranial nerve Ill
palsy (pupil-
edema, cellulitis
involving)
~
Contralateral
eyelid retraction
~
Conjunctival
inflammation
- Anisocoria
~ ~
Intraocular Extraocular Cranial nerve Ill
inflammation motility palsy (pupil-sparing)
I
Eyelid ma&B
Limited
1-
- (chalazion,
tumor etc.)
~
Chronic progreBBive
external
ophthalmoplegia
-1 Brow ptosis, Full

dermatochalasis
II I H Myasthenia
gravis
Full levator
function
Limited levat~
function
~ y Orbital mass
or inflammation
I
I ~
Aponeurotic/
involutional Muscular
dystrophy etc
I
l Tra~.matic
~
Katherine A. Lane
34
Recurrent Corneal Erosion Syndrome
RECURRENT CORNEAL EROSION SYNDROME
No
Matrix metalloproteinase
inibltors {doxycycline,
topical steroids)
Debridement with
diamond burr polshing
Phototherapeutic
keratectomy {PTK)
Colleen Halfpenny
35
w RETINAL DETACHMENT :a
en Ill
c!:
::I
HPI: !!.
0.-7 11:1
Ocular trauma? Penellllling vs. Blunl?
F - ("lightning bolt In plllpll"'Y')
F-
Curtalna
i
:::r
3
-
Previous eye surgery?
Chrunicily Ill
::I
At.g...__..
CIWIIIdtlyful-dillconlinuity
ollie ..Unal Uuua pruvl.-....,... Ill
Elalcldft
c.IINid b y - or
choroidal con~ 111111
~
Causadtlyac:.
HIIUaonraUnaiU'f-
[ ~~
llllfnaach&la I
luld to llbftlnel space a Cl'8llt8 RD d i - RPE or l*lod relirllll NOIHIIOblle
Rheglllllllog'*""'" nllinal...........,_
From fie Greek Rttegma tor 'rent'
boln1er -ng luld Ill buld-
up in the aub-notinai-
Concave
Calleadlo Senile
Hyperapla 70%
...........
X-Iinbd(89%)
Ch-lc-~-"shhlttng rhagmatoganouo
I 31ypeeof
rllllnal-
ftuid" peltllm varying .., position
Smooth.....,.. aurr.. (no-)
.-tachrnant with
contnaction a t -
and cnoa1lon o l -
lnleto18mporlll70%
8uparalaT1poaral 25%
Biamral~%
B-ral
Splltt~dNFL
lnteroleq)orai 110%
lui--
lnfllron-58%
.-u--
Arr1oafrom
T,..:
vi.._._,
rent i n -
Ueeua from v - - . traction
Hor.M . _ (lha lfl!l i8 point of
max
Hole: ruund or oval
...... . , _ _ i t y
......ad by atraphy no
vitreoua nction
d&ln881Gon at the one-
Dialylie: full thiokn...
- - - b l u n t trauma
VI....,.dlattacllad
DOx:
1. T..nora (melanoma, milia)
2. HaiiWlglomo.
3. Centnal aaruus
pa~pheral cysloid
No dam8lalllon line
Doma llhapad
with IVFA n_,...
Stallabl macula: CME
"-!pheral .:hale: no
-naion Ill ora, tra
llllf""""""'lclopathy
Typiedy tight -ions No fnaa flapping ~radge ~teocholoma alongVIIIII{VH)
30-45% ol RD - - 4. HallldiiM<H
.,. pa~vucular often- with holes in lattloll ln-amporalf""""runual 5.CoaladiBBBB8 Oobrwall bl8llk can
vit...,us hornorrhage degoMn.Uon 6. U...l afblon lead Ill rhi!JIII -
::tJ Slow prog..-on
7.Hypel'lllnoliW8IIIIIf!lllllCY
~.
..... 8. Systarnlc lupus """"30 yaara die not
thnaalan macula Hno
"'~ Exam:
VIt...,ua COllis (SdlaBiora &lgn)
Retinal - with PVD
5% will floaiBra
Olhtorbreaka
1.0parQllum
II Rapalr ~ arylhamaloul
9 . - d pregnancy outerrwtlna-
Vllillla prw-nllinlll or vit...,us 13% .,_.and Rlllina torn all 10.0ptic.-pilll
Ill In ollloB: pnaumaUo r d n - DOx:
:::r h....,"'- (with PVD 70%
oltnelc)
pholop&laa 2.Giantratlnlll-
Oaf: >80 .-grass or Localize break? 1. Pru-U.. d i -
12% pholopalaa alana
Mobile 3 dock hot.n dU -lnlllpMor llllfnopathy
Macula on or d.....-tlon llnll'? thicllne88notlnai- 8dockhoo.n 2.PVR
Sctn d~ of bot! eyes R-Iaa Multiple- within 3.1...........
(ldontlly lattloll, 1111-lllc.) t8clll*ally surgical 1.5 dock hour lanllgn body
No pathOlOgy 180
notlnal - wlllch
Is prune Ill poo-..atNe .-u-DIIItf
Noprot ifenltiva Repair:
~nglaalona: llinollllinapathy
1. l..alttoa .-;-ration vtno-palhy VIsion -nl~ (macula
4C).5C)% of CU88
8% of all eyes Can they poaition? involving at f bl8llk -ope)
Close flltlaoHJp? Vlt-.y with or without
30% olal RD Ollcloly !rum
buckle, ...... and poeeible
comllhdlon uaoclallon ~ ellac:fw8 . .coma oil tamponada
with myapla)
-r
Graale.t praportlon .. myapaa
8 Ill -8 claptllr1l In OR:
Modalllla ri1)'0IMIS ha,.. mana 1. Sclaral lluclde-Sagmantal
po&l-cafaract- RD vs.Endrd~
2. Cystic llllfrllll'-'rltd phalcic or young?
5% ol all eulopliad eyes 92% lllfllctMI
With PVD oen oa... 10% 2.Prlmary~
ol p~rnary RD P-phaldc?
88-eo% al'lectiv8
3. llucki&IVhctDmy
110% lllfllctMI
Retinal Hemorrhage
RETINAL HEMORRHAGE
I Retinal Hemorrhages can be sub-classified by their appearance and location

I
Pnt-Ratinal
aoat-Shaped
~ Nerw Fibltr Layer
Flame-Shaped
Dot and Blot
Small, Round,
I White-Centered
Rotn Spots
5u i).RIItinal
Darker red,
5u!).RPE
Very Dark, Wei~
Very Common Amorpnous, Deep Defined, Deep
Neovascular Optic Neuropathy Thromboembolic to Retinal Vessels
*See dlfllrenllll l'ilp ledem~ Blood Dyscrasia Bacterial Traum;tlc
lllpalllgf ISchemic optic Anemia endocarditis Traumatic Choroidal rupture
prollfwlltlw neuropathy Thrombocytopenia Bacteremia Choroidal rupture Penetr.rtin11eye
~ GiaucOillil Anoxia HIV Penetratill8 eye trauma
CNVM (Rare I Optic Nerve Edema Leulernia Collapn vasculilr traum~
Multiple mveloma disease Neovascular
Coasulopathy Vascular CNVM
Traumatic
Shaken Baby Blood Dyscrasia Retinal Polypoidal choroidal
Syndrome Microvascular Anemia macroaneurism vasculopatlrf
Blunt Trauma Hypertension Thrombocytopenia Retinal capilary
Valsalva Retinopathy Retinal venous AIIIlli;! hemangiobi;!stoma
Te rson's Syndrome obstruction Leukemia
Di;!betic retinopathy Multiple rnye lorna Neovascu Ia r
0 (OilfiUiopalhy
Radiiltion CNVM
Vitreoretinal Ocui;!r ischemi;! Polypoidal choroidal
Traction Miaovascular vasculopathy
PVD Traumatic Hypertension
Retinal Tear Shalen baby Retinal venous
Rheamatosenous Blunt trauma obstruction
Rl!tinal Detachment PVD Diabetic retinopatlrf
Chldbirth radi;!tion
Vascular Intracranial Ocular ischemi;!
Hernorrhase Fa lowing heart
Retinal
sursery
Macroaneurism
Capillary Thromboembolic
Hemangioblastoma Bacterial Traumatic
endocarditis lntracrani;!l
hernorrhafll!
Bactere rnia
HIIf
Collapn vascular
disease
*All causes of Dot-Blot hemorrhage can also cause nerve fiber layer hemorrhages
Andre Witkin
37
Retinal Neovascularization
RETINAL NEOVASCULARIZATION
Hlstnry of"''" or facial RT

Dilated and tnrruous Hl!ltDI'yofDM RBre causes Mc1B
retlnalvan(s) MAs I IRH
Vltreouo homorrh011e Venousbeacfrw c:ws
Hypenlf~a>~lty oyndrome
IRH IRMA MAo
CCRst111o
c:ws Rettnal "'udaoes ME
ME Idlopotlic oa:tuol"" ortlrlolltio
IRH l!lrdshotCR Exudates
cb
ME ~tl'nal vua.llrtf1 I
lo.L ~
T~oplnna.l1 Rild latlon retinop;rthy ~
Olorafdal melanoma
OYorlcRD
InconUnontlo pfsm<nU
llettnltto ple:mentDoa
Loubmio
Slclde cell trait or disease p.,.fpherol """ocular retina Premarure Infant No hlstDry of premorurlty M>F lnMior retinal Abnormal CXR/chest CT
Sea fan of NV Mldperlpheral: AV!Isrular periph.,..l PositiVe famdy hlstx>ry 501x>80yo snowbanklrw/onowballs Elevated ACE(~]
Sclerosed vessels Mlaoaneuryams, retina Bilab!ral p..-lpharal capillary Carotl'd dtsea~e Vitreous cells EIOV!Ited lysozyme
Dull gray pertph.,.al fundus DdataUon of capillary dhannels Demoraotion line nonperruslon Deaeased vflfon
Biopsy wllh nonca'""til"'l
Vanous mrt1loslty Tort1Josfty of nelghboriri!YeSsels Plus di...,se Flmbrated border IX> vessels Pertorbltlll or orular pain cranulomas
Bhu:k sunburm: Olorfaatl'nal !ICinl VH~ T~~mporal maa.llar dragtrw; Ddated retinal vans (not Posltl'vesallum SCZiin
Salmon patr:h ~ PerlpheroiiOCUdote
tDrbJous]Art8t'al att:enuatl'on
~
:rr-ctllelntraretinol depooltl : ~ MldperlpheraiiRH
Iris NV
llettnal deb!chm...,t Abnormal ophthalmodyn-
~
mometry
Eale'sdlsease ROP FEVR

~
Nikolas London
38
Secondary Angle-Closure Glaucoma
SECONDARY ANGLE-CLOSURE GLAUCOMA

I
1-ts!ory of rec.nt
ocular surgery
l No hlslory of
ocular surgery
~
I Owar
aonogrsphy
~ Unlateral ~ Blataral ~
I Sift-lamp exam I Topiramata ~

Choroidal No choroidal use
affusion or effusion or
hemonhage hemorrhage
Cydoplagics,
lllllrolds,
Antiglaucoma drU!ageol
~~00 ~
rneds, Retinal effusion
c:ycloplegics, dtllachrnent
8l8roid8 surgery
I
I I
Cyclopleglcs and Cyciopleglcs and
I~~Mid I u~~~ed antlglaucoma

meda axcept
anllglaucoma
rneds, 11188r
xalatan lridoplasty
8 I ~effusion II
or hemorrhage
I Hypermatura Normal or mase I Iris NV I Iris atrophic
I Controlled
lOP
II Uncontrolled
lOP
cat, lens
subiiiXadoo
or abnormal
pigmentation
in anlerior I NVG I
hole, iris nevus,
corneal edama,
bridgi ng broad
I I segment baaed PAS
~
I Cootinua
cyclopleglcs
Nd: Yag laser
anterior
Phacomorphic
glaucoma
Ocular 80110
lntravltn~al
anti-
VEGF, PRP and
antigllu:oma
ICE
andFAJ hyaloldotomy I and ant syndrome
mads
I I PI, antiglaucoma ~ segmentUBM
I vitrec:tomy
Anterior
mads
I Iris and ciliary
Trab + MMC,
shunt, or
ITn~at Ilks a
case with
body tumor POAG
~
cyciodestructive
or cyst, poet
axl::on prooeduras
segment
IUmors,serous
retinal detachment
Manage
appropriately
M. Reza Razeghinejad
39
Stromal Corneal Dystrophies
STROMAL CORNEAL DYSTROPHIES
Stromal corneal dystrophies
Gray/white
opacities with cloudly
intervening spaces
Colleen Halfpenny
40
Subluxated or Dislocated Lens
SUBLUXATED or DISLOCATED Lens
Subluxated or
dislocated lens/
Intraocular lens
I Crystalline lens
(ectopia lentis)
~
I Intraocular lens
(pseudophakia)
~
Ocular diaordera Systemic clsordera Trauma Early L...

1) Retinitis pigmentosa 1) Marfan's syndrome 1) Ocular trauma, 1) latrogerk 1) Cepsule contractiOn
2) Retinopathy of prematurity 2) Homocy&tin~ia usually blunt (inadequate cap&Uiar (phimo&i& with
3) Aniricia 3) Weii-Marchesani 2) Previous ocular support or z.ooolar z.ooolysis secondary to
4) Congenital glaucoma syndrome sugery, usually dehiscence) XFS, previous vltreo-
5) Iris coloboma 4) Ehlel'a-Danlos syndrome vltnlo-retinal 2) Zonulopathy ~alsurgery,trau~
6) PHPV 5) Syphilis (z.ooolar insufficiency uveitis, RP, ROP)
7) Rieger's syndrome 6) Hypertyainemia secondary to pseudo- 2) Scleral sut~n
8) Megalocornea 7) SuHHe OXidase deficiency exfoliatiOn syndrome, hydrolysis (usually
9) Simple ectopia Iantis 8) Sturge-Weber syndrome RP, ROP, uwltis, greater than saven
(usually AD) 9) Refsum's syndrome previou81rauma) years following scleral-
10) Ectopia Iantis e1 pupillae 10) Crouzon's clsease sutured IOL)
11) Scleroderma
Robert Behar
41
Tearing
TEARING
I Dye disappearance
I Normal, check
Schirmer's
Abnormal I
I
I
I
I
I Minimal change on I [Increased tear film I
~
Abnormal DDT, check Schirmer's or overflow
(diY eye)
I DIY eye
treatment
II Probe and irrigate ~
canaliculus
I Abnormal ISchirmer normal ~ I Probe and Irrigate
canaliculus
I
(diY eye) or Increased
Lacrimal drain
open, no treatment
Obstrucrted,
recommend lacrimal
I Treat
dl)' eye
Probe and Irrigate
canaliculus
I I
Obstructed
outflow ~
needed surgery I
Also perform P & I Canalicular, consider Nasolacrimal duct
Examine for to rule out lacrimal canalcular surge!)' obstructed,
P~X~ctoplasty,
hypersecretion, stenosis as secondal)' orCDCR consider OCR
canallculoplasty,
lkl malposHlon, cause of tearing
&tenting, OCR, or
keratitis, etc. CDCR depending on
location and extent of Duct open, Obstructed, needs
obstruction functional lacrimal surQSIY to
obstruction address area of
stenosisfobstructlon
(e.g., punctoplasty,
Examine for OCR, etc.)
lkllaxity, tear
pumpfal ure
Consider horizontal tightening

of ld or temporal)' &tenting of
drain for functional obstructions
Scott Goldstein
42
Toxic Retinopathies
TOXIC RETINOPATHIES
Crystalline Uveitis CME Retina and Vasculilr
I
retinopathy RPE disruption damage
I o
o
Rif.Jbutin
Cidofovir
o
o
Prostasland in analoss
Nicotinic acid
o Epinephrine Aminoglycosides Oral contraceptives
oIntraocular injection o May result in
may result in thromboembolic
I I macular infarct ion vascular occlusion
Tamoxifen Talc others
o Typically >30 ms/day o Small, intravascular o canthaxanthine
o Decreased VA and crystals seen in o Antiretrovirals Interferon
color vision chronic IV d riJ8 o Methoxyflurane
o Vascular closure
o Perifovea~ crystalline abuser associated with
intra retina I de posits o Can lead to retinal immune complex
t-/-CME exchemla, vascular deposition
o ERG: Decreased a- occlusion, NV, o Findings may
and bwaves and/orVH resemble NPDR
I I I
Th loridazine Chlorpromazine Chloroquine or Hydroxychloroquine other causes:

o Typically > 1200 rr181day o Typically 1200 to 2400 o Chloroquine: Typically >3.5 mslkfd"f or 300 g Antiretrovirals
o Decreased VA, nyctalopia, and rr181day for 12 or more cumulative o Carmustine (Cisplatin
dyschromatopsia months o Hyd roxychloroq uine: Typically >6.5 rns/kt/day or and BCNU)
o Pigment de posltio n In the o Pigment deposition in the 700gtotal o Cisplatin
pe rip hera I retina, cornea, lens, retina, cornea, lens, o RPE mottlin& may progress to bulls-eye o Clofazimine
eyelids eyelids and optic. nerve o ERG: enhanced a-wave, decreased b-wave o Corticosteroids
o ERG: decreased a- and b-waves pallor o VF: central scoto rna to red test object o Deferoxamine
o Potasium Iodate
o Quinine sulfate
Nikolas London
43
Transient Visual Loss
TRANSIENT VISUAL LOSS (TVL)
Ocular disease
Comeal Large vessel

abnormalities a1herosderotlc
disease
Angle closure
Glaucoma Cardloembolic
Large vessel
Cardloerrbolic Vertebrobasilar
a1herosderotic
dissection
Hyphema disease
Vasculitis
Hypercoaguable
states
Retinal
vasospasm
Central retinal
vein occlusion
Papilledema optic
nerve drusen
Mary Ellen P. Collum
44
VasculiUs
VASCULITIS
Ramal vascuilis 1
Necrotizing Aneurysmal cws lntraretinal +HIVELISA

re11nls dllltatlon of infiltrates and western blot
Inferior retinal
ONHand Major criteria: Abnormal CXR/chest CT snowbankingl
retinal arterioles Oral apthous ulcers Elev111ed ACE (60-90%) snowballs
Genital ulcera Elevated lysozyme Vrtreous cells
Skin lesions CBCD Oeukopenia, Peripheral ava&eular
Ocular dieeese eosinophilia In 24%) retina
Minor crtterla 24-hour urine Midperipheral:
Arthritis (hypercalcurla In 4%) Microaneurysm&
GIIeaions Biopsy with non- Dilatation of capillary
Occlusive vascular lesions ea&eeting granuldmas channels
Migratory thrombophlebitis Positive gallum scan Tortuosity of neighboring
CNS Involvement
vessels
Pulmonary artery aneurysm
ll..l
Chorloretlnal scars
lnterstitallung changes
I Beh~rs I I ELs ~
Frosted branch angiitis Clinical findings (unexplained Chronic, unexplained M ACA criteria PosHive serum
4/11 ACR criteria: fever, abdominal pain, renal respiratory symptoms and Asthma cryoglobulins
Malar rash failure, hypertension, arthralgia, signs (Including Eosinophilia Abnormal urinalysis
Di&coid ra&h muscle tenderness or weakne&1>, otitis media in adult&) Paranasal sinusili& Elevated BUNter
Photosensitivity subcutaneous nodules, skin ulcers, Elevated ESA and CAP, Pulmonary lnftltrates Elevated tranamlnases
Oral ulcers pain in the abdomen or extremities, decreased serum albumin Histologic evidence of va&eulitis PosHive AF
Arthritis or rapidly developing hypertension) and total protein, anemiua, with extravascular eosinophils (lypee I and II)
Serositis Biopsy (necrotizing arteritis) thrombocytosis, mild eosinophilia, Mononeuritis multiplex or Abnormal CXR
Renal disorder Arteriography (aneurysms in elevated serum creatinine polyneuropathy
Leukopenia/lymphopenia medium-sized arteries) Urinalysis with dysmorphlc
Hemolytic anemia RBCs and ABC cast&, proteinuria Elevated CAP levels and ESA
or thrombocylopen may be dalected Abnormal urinalysis
Neurologic disorder Positive o-ANCA Positive p-ANCA
Positive antiDNA, Positive biopsy
"l
antl-8mllh antibody, or
antiphosholipid antibodies
Elevated ANA
ICh"ll Cryoglobulnemia
Nikolas London
45
ABDUCENS/CRANIAL NERVE VI PALSY SIXTH (VI] NERVE PALSY
William A. Cantore
~ BASICS PATHOPHYSIOLOGY
Nucleus:
-A CN VI palsy does not occur with nuclear lesions.
Pediatric Considerations
Congenital
- Isolated congenital absence of abduction
DESCRIPTION Fascicle in pons: extremely rare
The abducens (VI) nerve (CN VI) innervates the - Demyelinating o Transient CN VI palsy may occur due to birth
ipsilateral lateral rectus (LR) muscle, abducting the - Infarction trauma.
eye. CN VI palsy is the most common isolated cranial -Neoplasm - Miibius syndrome
nerve palsy. Patients present with binocular Nerve root in cerebellopontine angle: o Facial diplegia associated with horizontal gaze
horizontal diplopia and esotropia. Children may not - Neoplasm (acoustic neuroma)
complain of diplopia. abnormalities
Subarachnoid space: o Etiologies include maldevelopment and
In adu Its aged over 50 years. CN VI palsies are most -Aneurysm intrauterine insults.
often due to microvascular ischemic peripheral nerve - Meningitis
injury. In children, CN VI palsies are particularly -Duane's retraction syndrome
- Inflammation o Unilateral or bilateral abduction deficits. variable
alarming because of the frequent association with -Infection
brain tumors. adduction abnormalities, palpebral fissure
-Neoplasm narrowing and globe retraction on attempted
The CN VI nucleus is located in the dorsal lower Petrous ridge:
pons. The nuclear complex contains motor neurons adduction
- Recurrent otitis media
to the ipsilateral lateral rectus (LR) muscle and o Congenital absence of 6N neurons with
- Nasopharyngeal carcinoma
intemeurons that project, by the medial longitudinal aberrant innervation of LR by branches of CN Ill
- Chondrosarcoma
fasciculus (MLF), to the medial rectus (M R) Most common causes of CN VI palsies in children
Cavernous sinus:
subnucleus of the contralateral CN Ill nuclear - Cavernous sinus fistula, thrombosis are tumors (45%), trauma, increased intracranial
complex. Therefore, a nuclear lesion will produce an -Neoplasm pressure (IC P).
ipsilateral gaze palsy and not a CN VI palsy. The - Internal carotid artery aneurysm, dissection -May be post-viral when isolated
fascicles exit at the pontomedullary junction and the
nerve runs along the clivus and travels over the Orbital apex: COMMONLY ASSOCIATED CONDITIONS
- Optic neuropathy Nucleus:
petrous apex of the temporal bone, where it is
tethered at the petroclinoid ligament in Dorelia's Orbit: - Conjugate horizontal gaze palsy
canal. The nerve courses within the cavernous sinus -Neoplasm Fascicle in pons:
lateral to the internal carotid artery and enters the - Inflammation - Ipsilateral CN V palsy
orbit through the superior orbital fissure. -Infection - Ipsilateral CN VII palsy
ETIOLOGY -Ipsilateral Horner's syndrome
EPIDEMIOLOGY -Contralateral hemiparesis (Raymond's syndrome)
CN VI palsy can occur in all ages; etiology varies Ischemic
depending on age group -Diabetes Nerve root in cerebellopontine angle:
- Hypertension - Ipsilateral deafness or tinnitus
No racial or sex predilection
o questionable independent risk factor Petrous ridge:
lnddence Compressive -Severe facial and eye pain (Gradenigo's syndrome)
11 per 100,000 Inflammatory - Occasionally facial paralysis
Peak incidence in seventh decade Traumatic Cavernous sinus:
RISK FACTORS - Unilateral or bilateral - CN Ill, IV, or V palsy
Diabetes Intracranial hypertension - Ipsilateral Horner's syndrome
- Only independent risk factor linked to ischemic - Unilateral or bilateral Orbital apex:
palsies Intracranial hypotension - Optic neuropathy
Hypertension - Post dural puncture, CSF lealc Orbit:
Hyperlipidemia Multiple sclerosis -Proptosis
Obesity -Chemosis
-Lid swelling
Trauma
Alcohol abuse
- Wernicke-Korsakoff syndrome is the best known
neurologic complication ofthiamine (vitamin 81)
deficiency.
46
ABDUCENS/CRANIAL NERVE VI PALSY SIXTll (YI) NERVE PALSY I
~ DIAGNOSIS
Diagnostic Pi'oalduras!Othflr PROGNOSIS
LP Ischemic CN61eslons usually resolve within
- Meningeal signs present 3-4 months.
HISTORY - Elevated ICP signs present - Angle of ocular deviation on presentation may
Abrupt onset vmen microvascular Ischemic predict recovery (2).
Purely horizorrtaI diplopia DIFFERENTIAL DIAGNOSIS -In vasculopathic CNVI palsies, 86% completely
-BinooJiar MG resolve (3)
- Worse at distance Thyroid ophthalmopathy
- Worse in direction of action of the paretic LR Medial orbital wall or floor fracture Children with Isolated CN VI palsies usually rerowr
within 4 months
Inquire about headache, pain, hearing loss, trauma, Duane's retraction syndrome Spontaneous improvement of traumatic CN VI
symptOms of giant cell arteritis (GCA) - Patients not diplopic palsies in 30-SO%
PHYSICAL EXAM Spasm of near reflex - Complete reCOYI!ry < 25%
Patients may present with a head turn.
Ipsilateral abduction defidt . TREATMENT REFERENCES
lncomltant esotropia.. WD13e In dlrectlon of weak LR
ExophthalmometJ'Y and orbit examination Most Importantly, Identify and treat unde~ylng 1. Chi SL. Bhatti MT. The diagnostic dilemma of
Forced duction test condition If present neuro-imaging in acute isolated sixth nerve palsy.
Assess orbicularis oculi strength to look for MEDICATION
Curr Opn Ophtha/mo/2009;20(6):423-429.
myasthenia glliVis (MG) 2. Park. UC, Kim SJ, Hwang JM, et al. Clinical features
FlrstUne and natural history of acquired third, fourth, and
ALERT Aspirin sixth aanial nerve palsy. Eye (Land) 200B;22(S}:
Criticalto evaluate fu ndion of other aanial nerves - No sdentlflc data demonstrates red uctlon In risk 69H96.
of Ischemic CN VI palsy
Look for papilledema 3. Sanders SIC, Kawasaki A. Purvln VA. Long-term
ADDmONAL TliEATMENT prognosis In patients with vasculopathlc sixth nerve
DIAGNOSTIC TESTS & INTERPRETATION Gflftfll'ill MNSUIWS palsy. Am 1 Ophlha/mo/2002;134(1):81~4.
Lab Monocular ocd usion
Initial lab tests - Sector occlusion of eyeglass lens with translucent
HbAtc tape may be preferred ADDITIONAL READING
ESR, CRP (for GCA) - Altemate patch in children, not necessary in adults Brazis PW. Isolated palsies of cranial nerves Ill, IV.
Anti-ACh Rantibodies (for MG) Fresnel prisms and VI. Semin Neuro/. Feb 2009;29(1 ):14-28.
Imaging Issues for Reftmel
lnitialappi'Oitdl Musde surgery considered after 6-12 months of
lnsufflclent CNVI palsy evidence to support MRl of stability . CODES
all patients with 6NP Additional Therapies
Nonisolalt'd Botulin urn toxin ICD9
- Brainstem signs - lnjed ipsilateral MR musde 378.54 Sixth or abducens nerve palsy
oMRI - Transient improvement of diplopia
- MeningeaI signs - No established improvement in recovery rate
o MRI, LP CLINICAL PEARLS
SURGERY/OTHER PROCEDURES
- OrbitaI signs Resection of L.R musde and recession of MR Not all abduction dl!!icits are CN VI palsies.
oCTorMRI muscle Because of its location within the substance of
- Elevated ICPsigns - Transposition of verticalll!ctus muscles may be cavemous sinus (free from the dural lateral waiO,
o MRI, MRV, LP typically first aanial nerve involved by a process
necessary If no LR function at all
Isolated - 6-1 2 months of stable measurements there
-Age <IS years When assodatecl with an Ipsilateral Homer's
o Observation, if occurs after viral illness or syndrome and no other neurological finding, careful
vacdnation $ ONGOING CARE investigation of the cavemous sinus is mandatory.
o Otherwise, MRl
fOLLOW-UP RECOMMENDATIONS Bilateral CN VI palsies is not dUI! ID ischemia.
-Age <50 years
oMRI Patients aged >50 years with microvascular ~sk GCA may present as a CNVI palsy.
o LP factors managed by close observation should have Look for papilledema In eYery CN VI palsy.
- Age >50 years MRI if no improvement in 3 months.
CN VI palsy that worsens after 2 weeks or becomes
MRI if no improvement in 3 months or no identifiable
assodated with a new neurologic finding should
risk factors for microvascular disease (1)
have MRI.
Bilateral
-MRI l'atient Monitoring
-LP In a patient aged >50 years with vasculopathic risk.
factors in Vftlarn microvascular ischemic CN VI palsy is
diagnosed, reeva Iuation in 2 weeks
47
ACHROMATOPSIA
Eliza S. Stroh
Alex V. Levin
~ BASICS ~ DIAGNOSIS
Diagnostic Procedures/Other
Color vision tests show impaired color
discrimination along protan, deutan, and tritan axes.
DESCRIPTION HISTORY Full-field ERG shows absent or severely diminished
Reduced or absent color discrimination with Family history photopic response and typically normal scotopic
photophobia, reduced visual acuity, nystagmus, -Typically presents in infancy as fine nystagmus response.
eccentric fixation, and small central scotoma all due with photophobia
Visual field testing may reveal small central scotoma.
to defective cone development - Stationary low vi sua I acuity with poor color
discrimination If able, OCT usually normal or shows macular
May be divided into partial (incomplete) versus thinning
complete phenotypes -Children often referred to as "night owls" due to
preference for night time activity and dim If able, multifocal ERG usually isoelectric
EPIDEMIOLOGY illumination Intravenous Huorescein angiography and fundus
lnddence autofluorescence normal
1 per 30,000 individuals (1 )[C]
PHYSICAL EXAM
Full ocular examination Pathological Findings
RISK FACTORS - Nystagmus is fine, high frequency, often milder Reduced cone number
Consanguineous parents with age Residual cones often abnormal in structure
Family history -Assess visual function; best-corrected is typically DIFFERENTIAL DIAGNOSIS
20/200 range Incomplete achromatopsia is associated with partial
Geneffa
- Hyperopia may be present cone function, resulting in some color
Autosomal recessive inheritance
- Photophobia on examination discrimination, better visual acuity than in complete
AC HM 1, gene unknown, chromosome, 14 - Minimal if any foveal hypoplasia or subtle
AC HM2, alpha subunit cone cG MPgated cation achromatopsia, and absence of photophobia.
pigmentary changes. most often normal - Blue-cone monochromatism (X-Iinked
channel (CNGA3), 2q11 appearance achromatopsia) has similar findings to
AC HM3 (Pingelap variant), beta subunit cone cG MP - Fail color vision testing achromatopsia and can be differentiated by
gated cation channel (CNGB3). 8q21-22
DIAGNOSTIC TESTS & INTERPRETATION Berson plates or by S-cone function on ERG (4)[C].
AC HM4 cone alpha subunit transducin -Cone monochromatism, in which the L-or
(GNAT2), 1p13 Lab
Molecular genetic testing available M-cones are functional.
GENERAL PREVENTION - Cone dystrophy is typically associated with normal
Genetic counseling Imaging cone function at birth, with gradual deterioration
If nystagmus or presentation atypical, consider and progression.
PATHOPHYSIOLOGY neuroimaging to rule out intracranial process - Cone-rod dystrophy includes progressive rod
Reduced or absent protein expression in cone dysfunction.
photoreceptors leads to inhibition of the normal - Other causes of photophobia and nystagmus
phototransduction cascade and dysfunctional cone - Fovealfmacular hypoplasia (see chapter)
development (2)]8] - Cerebral achromatopsia is associated with febrile
ETIOLOGY illness or trauma.
Mutated gene inherited from each parent
COMMONLY ASSOCIATED CONDITIONS
None
Phenotypic heterogeneity includes cone dystrophy
and cone-rod dystrophy
48
ACIIROMAlDPSIA I
3. Varsanyi 8, Wissinger B, Koh I S, et al. (lin ical and
. TREATMENT ONGOING CARE genetic features of Hunga~an achromatopsia
patients. Mol Vis 2005;11 :996-1 001.
MEDICATION FOLLOW-UP RECOMMENDATIONS 4. Moskowitz A. Hansen RM, Akula JD, et al. Rod and
None Children should have an ophthalmic evaluation every rod-driven function in achromiltopsia and blue
6-12 months to monitor refraction and function cone monochromatism./nvest OphthalmoJ Vis Sd
ADDITIONAL TREATMENT
PATIENT EDUCA110N 2009;50(2):95D-i.
General Measures
Dark or Corning filter sunglasses or red-tinted Gene11c cou nsellng
contact lenses (often nat tolerated for abnormal hnp:l/www.dailystrength.org/c/Achromatopsia/ ADDITIONAL READING
appearance) red uc:e photophobia. supporlijroup
- Low vision aIds o http://www.lowvision.orglachromatopsia.and. http:ff'Mwl.ncbl.nlm.n lh .govfbookshelflbr.fcgl?book
- Children may benefit from an lndMduallzed color.blindnes.htm =gene&part=achm.
Education Plan. http://Www.achromat.orgf
Issues for Referral PROGNOSIS
Genetic counseling o Visual aruity is usually stable over time on later . .CODES
- Low vision evaluation and support as indicated decades when slow degeneration may OUr with
natural age related loss of photareceptors. ICD9
Addition/ Then~pies 368.54 Al:hromatopsia
Correction of refractive error - Nystagmus and photophobia may Improve slightly
with age.
COMPLEMENTARY & ALTERNATIVE
THERAPIES COMPUCATlONS CLINICAL PEARLS
None proven or indicated o Lowvision
- Photophobia Consider ach romatopsla diagnosis In children with
SURGERY/OTHER PROCEDURES photophobia and nystagmus.
None Color vision may appear rernarltably good if patients
REFERENCES learn object assodalions or shades; forma I tesli ng is
indicated.
1. Rojas 0/, Maria L.S, Santos JL., et al. A frameshift
insertion in tl1e cone cyclic nucleatide gated calion Consider genetic testing and counseling.
channel causes carnple1e achromatopsia In a
consanguineous family from a rural isola!!. Eur J
Hum Genet 2002;1 [):638-42.
2. Wissinger B, Gamer D, Jagle H, et al. CNGA3
mutalions in hereditary cone photoreceptor
disorders. Am 1 Hum Genet 2001;69:722-37.
49
ACNE ROSACEA
Swathi Reddy
DIAGNOSTIC TESTS & INTERPRETATION
Lab
No lab testing required
DESCRIPTION HISTORY
Acne rosacea is a chronic acneiform disorder affecting Family history Diagnostic Procedures/Other
the nose, chin, forehead, or eyelids. Symptoms including flushing, persistent erythema, Diagnosis is clinical
papules, pustules, burning or stinging of the skin, Pathological Findings
EPIDEMIOLOGY and dryness Vascular dilatation of small vessels
Prevalence
PHYSICAL EXAM Perivascular infiltration of histiocytes. plasma cells.
Affects approximately 1 in 20 Americans.
Skin involvement (nose. cheeks, chin, central and lymphocytes
RISK FACTORS forehead, neck, and chest) Infiltration of conjunctiva and cornea by
Age (usually occurs between the ages of - Diffuse erythema lymphocytes. epithelioid cells, giant, and plasma
3D-60 years) -Telangiectasias cells
Equal sex distribution -Papules loss of superficial dermal connective tissues
Suggestion that there is increased prevalence in -Pustules -Edema
fair-skinned persons of European or Celtic descent, - Hypertrophy of sebaceous glands - Collagen disruption
although not well-substantiated - Rhinophyma (thickening and purplish -Elastosis
Dark pigmentation in black populations may mask discoloration of nose skin) Rhinophyma shows increase in sebaceous glands
presentation. Ophthalmologic and connective tissue
Geneffa - Blepharoconjunctivitis Skin biopsies show deposition of complement and
o Inspissation of meibomian glands immunoglobulin at dermal-i!pidermal junction
No gene identified as causing rosacea, but tends to
o Telangiectasias of lid margin
run in families. DIFFERENTIAL DIAGNOSIS
o Recurrent hordeolum and chalazion
GENERAL PREVENTION o Conjunctival hyperemia and congestion Acne vulgaris
Rosacea cannot be prevented, although several factors o Follicular reaction lupus erythematosus
may trigger flare-ups including sun, wind, hot, cold, o Papillary hypertrophy Dermatitis
exercise, stress, and certain foods. Corneal (usually involves inferior cornea) Erysipelas
PATHOPHYSIOLOGY - Punctuate epithelial keratitis Seborrheic dermatitis
Anomalous vascular response. - Corneal vascularization Carcinoid syndrome
- Corneal infiltration Tuberculosis
ETIOLOGY - Corneal ulceration Syphilis
Poorly understood, although infectious, climactic, - Corneal perforation
neurologic, and immunologic factors have been Reports of involvement of episclera, sclera. and iritis,
implicated. although not widely reported
Vasodilation may cause extravasation of plasma.
which can induce an inflammatory response.
Demodex folliculorum has also been implicated, but
this is largely circumstantial.
50
ACIE ROSACEA I
COMPLEMENTARY & ALTERNATIVE ADDITIONAL READING
. TREATMENT THERAPIES
Topical niacinamide van Zuuren EJ, Gupta AK. Gover MD, et al.
MEDICATION o Bvitamins Systematic review of rosacea treatments. J Am Acad
FirstUne Elimination and challenge diet Dermato/2007;56:107.
o Oral tetracycline (250 mg every 6 hours for Crawford GH, Pelle MT, James WD. Rosacea: I.
3-4 weeks, with tapering) SURGERY/OTHER PROCEDURES Etiology. pathogenesis. and subtype dassification.
Conjunctival flaps. tectonic lamellar keratoplasty. JAm ACild Dermatol 2004;51 :327.
o Doxycydlne or ml nocycllne (SD-1 00 mg every
pene1rating keratoplasty Webster GF. Rosacea. Med CHn N Am 2009;93:
12 hours)
o Laser, 1mense pulse light, photodynam lc therapy 1183-1194.
S011d Une Electrosurgery, surgical steel resculpturing.
o Ora1erythromycin denmabrasion, or carbon dioxide laser treatment for
Oral isotretinoin rhinophyma . CODES
o Ampicillin
Metronidazole ICD9
Topical metronidazole (0.75% gel twice daily) ONGOING CARE 372.20 Blepharoconjunctivitis. unspecified
o Azelaic Add FOLLOW-UP RECOMMENDATIONS 374.89 Other disorders of eyelid
Sodium sulface1amlde lotion o Ophthalmology 695.3 Rosacea
Intensive lid hygiene Dermatology
o Bacteriostatic ointment at bedtimE!
l'ltient Monitoring CLINICAL PEARLS
Topical corticosteroids (short-term) Close ophthalmologic monltorlng for comeal thlnn lng,
Electrocautery for telangiectasias ulceration, infiltration, or perforation Rosacea may cause chronic ocular symptoms
Pediatric Considerations DIET History of recurrent hordeolum or chalazion may
Tetracycline not for use In children <8 years old Umlt spicy foods, alcohol, and hot beverages. represent ocular rosacea
Pregnancy Conslder.~tlons Malnstay of treatment remains topical and oral
PATIENT EDUCATION
o Tetracycline should not be used during pregnancy antibiotics
The NationaI Rosacea Socie1y (http:llwww.rosacea.
lsotretlnoln Is teratogenic and contraindicated org)
during pregnancy - women of childbearing age
PROGNOSIS
should be placed on oral contraceptives when
Good prognosis for controlling symptoms. although
warranted rosacea Is a chronic condition.
General Measures
Avoidance of sun exposure
Daily sunscreen use
o Use of mild soaps
Avoidance of oil-based cosmetics
Issues for Refem1l
o Severe oallar involvement (corneal
Infiltration/ulceration, recurrent chalazia)
Rhinophyma refractory ID standard treatments
51
ACUTE ANTERIOR UVEITIS
Vikram J. Setlur
Lab
To evaluate patients for an underlying systemic
DESCRIPTION HISTORY disease, lab testing is performed for acute anterior
Acute anterior uveitis (AAU) involves inflammation of Classic symptoms are pain, redness. photophobia.
uveitis that is one of the following: Severe,
the iris alone (iritis) or iris and ciliary body together and blurred vision. recurrent, granulomatous. or bilateral
(iridocyclitis) of abrupt onset (lasting days to weeks) Detailed review of symptoms and past medical - History and examination should guide the
and limited duration ( <3 months). history should be taken with special attention to selection of lab tests, which may initially include
rheumatologic, dermatologic, gastrointestinal, and C8C, ESR, PPD, FTA-A8S and VORL, Lyme
EPIDEMIOLOGY autoimmune diseases. Infectious exposures, sexual
Incidence antibodies, HLA-827, ANA, ACE, and HIV testing.
history, medication usage, and family history (with Numerous other tests can be helpful as the clinical
17 cases per 100,000 people in developed countries attention to rheumatologic and inflammatory picture dictates.
Varying incidence in the general populations diseases) should also be included. Ocular history is
depending on the population and country of critical to assess onset and progression of Imaging
residence symptoms, history of prior episodes. and success of Chest x-ray is done to look for pulmonary signs of
prior treatments. tuberculosis or sarcoidosis.
Prevalence - In cases of suspected sarcoidosis, chest computed
38 cases per 100,000 people in developed countries PHYSICAL EXAM tomography (CT} scan has higher sensitivity and
RISK FACTORS Ciliary flush (perilimbal dilated episcleral vessels are specificity than chest x-ray.
caused by increased blood flow to the ciliary body) is
Genetia DIFFERENTIAL DIAGNOSIS
HLA-827 phenotype is a risk factor, seen in 50% of often present.
Pupillary miosis may be seen. The causes of AAU is broad, but the most common
acute anterior uveitis patients in a Caucasian causes are:
population. Keratic precipitates (KPs) on the corneal
endothelium may be fine (non-granulomatous KP) or Idiopathic (approximately half of all cases of AAU)
PATHOPHYSIOLOGY large and have a mutton fat" appearance HLA-827 associated uveitis (ocular disease alone or
lntraocu lar inflammation of the iris or iris and ciliary (granulomatous KP). associated with a systemic syndrome such as
body usually causes pain, redness, blurred vision, and Anterior chamber exam may show cell, flare, and reactive arthritis. psoriatic arthritis, ankylosing
photophobia. rarely, hypopyon (HLA-827-related and 8eh~t spondylitis, or inflammatory bowel disease)
ETIOLOGY disease in particular). Iris nodules may be present at Infectious causes (viral [HSV, VZV, CMV, HIV],
Numerous etiologies can trigger acute anterior uveitis, the pupillary margin or iris stroma. bacterial [syphilis. T8, Lyme], fungal. and parasitic)
including: Infections. autoimmune diseases. trauma, Iris ischemia can cause iris stromal atrophy and may Sarcoidosis
surgery, medications. and lens-related disorders. indicate previous episodes. Beh~et's disease
Approximately one-third to half of the cases are Posterior synechiae, which are adhesions between Systemic lupus erythematosus
idiopathic. the posterior iris and anterior lens capsule, may be Juvenile idiopathic arthritis-related uveitis
COMMONLY ASSOCIATED CONDITIONS seen. Gonioscopy can reveal peripheral anterior Trauma-related iritis
A number of systemic diseases can be associated with synechiae. lens-induced uveitis
acute anterior uveitis. including HLA-27 associated The intraocular pressure may be high or low. Fuchs heterochromic iridocyclitis
diseases (Ankylosing spondylitis, inflammatory bowel - Dilated fundus examination should be performed Posner-Schlossman syndrome
disease. reactive arthritis. psoriatic arthritis). to look for vitreitis, snowballs. snow banks. optic leukemia, lymphoma (masquerade syndromes)
sarcoidosis. syphilis, Lyme disease, HIV, tuberculosis, disc edema and hyperemia, vessel sheathing,
Idiopathic
collagen vascular diseases, and juvenile idiopathic perivascular exudates, retinitis. and choroidal
artluitis. infiltrates. Though cystoid macular edema and
optic disc edema may be seen in acute anterior
uveitis, other posterior segment involvement
constitutes panuveitis and changes the differential
diagnosis.
52
ACUTE ANTERIOR UVEITIS I
SURGERY/OTHER PROCEDURES ADDITIONAL READING
. TREATMENT o Cataract extraction may be done In an eye that Is
quiet for at least 3 months prior to su rgety. o Agrawal RV, Munhy S, Sangwan V, et al. Indian J
MEDICATION o Glaucoma surgery may be needed for intraocular Ophtha/mo/ 2010;58(1):1 1-19.
FirstUne pressures not responsive to topical therapy. o Weinberg RS. Anterior Uveitis. Ofiltha/o/ Gin N
o Corticosteroids are the drug of choice and are dosed o Pre- and postoperative .systemic and topica I steroids Amer 1993;6(1):23-28.
based on disease severity are given in the perioperative period to prevent o Rothava A. van Veenendaal WG, Linssen A. et al.
o Topical corticosteroids are easily administered with recurrence of inflammation. ClinicaI feature of acute anterior uveitis. Amer J
the least side dfects (e.g., prednisolone 1% or Ophthalmo/ 1987;103:137-145.
INPA11ENT CONSIDERATIONS
Durezol (difluprednate), 1 gtt q1-6 h o Pavesio CE, Nozik RA.. Anterior and intermediate
Admission Crlterla uveitis. tnt Ofilthalmo/ Clin 1990;30(4):244-251.
o Periocular and/or systemic corticos1eroids are
Patients with severe vision or life-threatening disease
indicated lor disease unresponsive to topical may need to be admitted to provide aggressive
medication immunosuppressive therapy.
o Mydriaticslcyclop legics are added to relieve ciliary . CODES
muscle spasm, prevent posterior ~echiae, and help
stabilize the blood-aqueous barrier (e.g. ONGOING CARE ICD9
cyclopentolate 0.5-2% 1 gil t.i.d, or atropine 1% or 364.00 Acute and subacute lrldocydltls, unspecified
homatropine b.l.d.) FOLLOW-UP RECOMMENDAnONS o 364.3 Unspedfied iridocyclitis
Patients require close monitoring until the
SecondUne inflammation is controlled. Then, frequency of
o Immunosuppressive agents (e.g., met11 otrexate,
medication and follow-up visits may slowly be CLINICAL PEARLS
azathioprine, mycophenolate mofetll, cydospo~ne, reduced.
li!crolimus) and biologics Unfliximab, adalimumab)
Pathmt Monitoring o Classic findings are abrupt onset of pain, redness,
are used in mrticosteroid-resistant cases or as
o Patients requl re measurement of visual acuity and
blurred vision, and photophobia accompanied by
steroid-sparing agents. cell and flare in the anterior chamber.
- The fluocinolone implant (Retisert) or intmocular inflammation at each visit.
dexamethasone implant (Ozurdex) may be very Careful grading of cell and flare at initial and o Targeted wor~-up can reveal an underlying systemic
helpful, but may be assodated with an increased follow-up visits can be used to assess response to condition.
rate of cataract or ocular hypertension. treatment o Topical. periocular, and systemic mrticosteroids, as
well as steroid-sparing agerrts, are used as needed
ADDITIONAL TREATMENT COMPLICAnONS to control all intraocular inflammation whenever
Issues for Ret.al Cataract formation may be caused by inflammation possible.
Immunosuppressive agents are started in conjunction and conlcosterolds. Glaucoma may be caused by
with an intemistlmeumatologist, or uveitis specialist. trabeculitis, peripheral anterior synedliae, and iris
neovascularization. Hypotony can result from ciliary
Additional Therapies body shutdown or cyclltlc membranes. Cystoid
Elevated intraocular pressure can be treated with macular edema may also occur.
topical beta blodcers, carbonic anhydrase inhibitors,
alpha agon ists, or hyperosmolar agents.
Prostaglandins should be avoided as they may be
proinflammatory. Topical NSAIDs can be used to treat
cystoids macular edema.
53
ACUTE PRIMARY ANGLE-CLOSURE GlAUCOMA
Shelly R. Gupta
Robert J. Goulet Ill
Kathryn B. Freid/
L. Jay Katz
~ BASICS
- Phacomorphic: Age-associated lens enlargement PHYSICAL EXAM
or lens dislocation can lead to pupillary block or Decreased visual acuity
anterior displacement of the iris. This is Mid-dilated pupil
DESCRIPTION traditionally thought of as a secondary Relative afferent pupillary defed (RAPD)
Angle closure is defined by apposition of the iris angle-closure mechanism but can contribute to Elevated intraocular pressure
against the trabecular meshwork. In acute primary primary angle closure.
Conjunctival injection
angle closure, the intraocular pressure (lOP) rises - Plateau Iris: Anteriorly displaced ciliary processes
rapidly due to a sudden increase in trabecular push the peripheral iris forward resulting in Microcystic corneal edema
meshwork obstruction by the iris. Glaucomatous narrowing of the anterior chamber angle. Shallow anterior chamber with mild cell and flare
optic neuropathy can result from this event (acute Optic nerve swelling and hyperemia
primary angle-closure glaucoma). ETIOLOGY Retinal arterial pulsations
Not all eyes with narrow angles develop angle
The most common cause is pupillary block. Gonioscopy: Closed angle (perform indentation
closure.
gonioscopy to differentiate between appositional
EPIDEMIOLOGY - In normal eyes, there appears to be a decrease in
and synechia! angle closure)
Incidence iris volume with mydriasis; it has been proposed
that eyes prone to acute angle closure may Signs of previous acute attack.:
Primary angle closure incidence ranges from - lower corneal endothelial cell count compared to
4.7-15.5/100,000 people/year. experience an increase in iris volume witll
mydriasis. the unaffected fellow eye
Inuit > Asians > lndiallhaUMalay > Europeans > - Peripheral anterior synechiae (PAS)
African/Hispanic -Additionally, eyes prone to angle closure may
inadequately regulate choroidal thickness. -Anterior subcapsular lens opacities
The fellow eye of a patient suffering an acute attack (glaukomflecken) secondary to ischemia
o Clinically imperceptible changes in choroidal
has a 40--80% chance of developing an acute - Segmental iris atrophy with pigment release from
attack within 5-1 0 years. thickness may increase intraocular pressure,
rotate the ciliary body-iris complex forward, and focal iris stromal necrosis
Prevalence increase resistance at the iris-lens interface. - Dilated, irregular pupil from iris ischemia
Prevalence of angle-closure glaucoma in the US is DIAGNOSTIC TESTS & INTERPRETATION
0.2%. COMMONLY ASSOCIATED CONDITIONS
Small anterior segment (Hyperopia, Nanophthalmos, Imaging
Acute angle closure is rare, relative to chronic angle Initial approadl
closure. Microphtllalmos)
Retinal vascular occlusion (as a result of elevated The diagnosis is made on clinical examination.
RISK FACTORS lOP) Imaging of the anterior segment is useful in the
Older age Ischemic optic neuropathy (as a result of elevated setting of a patent peripheral iridotomy to delineate
Female gender lOP) causes of non-pupillary block angle closure. One
Race (see above) may use:
~ DIAGNOSIS
Hyperopia/shorter axial length/shallow - Ultrasound biomicroscopy
anterior chamber - Optical coherence tomography
Thick crystalline lens Follow-up i spec:ial considerations
HISTORY
Family history It is essential to evaluate tile angle of the fellow eye.
Presenting complaints include ocular pain,
lridotomy should be done in the fellow eye as soon
headache, blurred vision, halos around lights,
GENERAL PREVENTION as possible due to high risk of subsequent angle
nausea, and vomiting.
Screening gonioscopy is necessary to identify closure.
patients at risk of having occludable angles. Prior episodes of headache with blurred vision may
Need to perform repeat gonioscopy following
Provocative tests (stimulation of mydriasis), have not signify previous angle-closure events.
peripheral iridotomy to confirm narrow angle has
been shown to be accurately predictive of eyes at Ophthalmic and medical history should focus on resolved.
risk for acute angle closure. contributory faders: - If narrow angle is not resolved with peripheral
Peripheral iridotomy in eyes determined to have - Recent pharmacologic dilation iridotomy, anterior segment imaging is warranted.
anatomically narrow angles can prevent acute - Use of medicines with anticholinergic effects
o antihistamines, tricyclic antidepressants, MAO Diagnostic Procedures/Other
attacks and resultant vision loss. lhymoxamine test: Thymoxamine is a selective alpha 1
inhibitors
PATHOPHYSIOLOGY - Causes of ciliary body edema adrenergic antagonist that blocks the iris dilator
Physical obstruction of the trabecular meshwork. by o Panretinal photocoagulation muscle, producing miosis. In normal eyes, lOP will not
the iris leads to decreased aqueous drainage and o Scleral buclde decrease with thymoxamine administration. In angle
acute elevation of intraocular pressure. The o Medications such as sulfonamides and closure, thymoxamine causes the lOP to decrease as
following mechanisms can occur independently or in topiramate miosis removes iris from the outflow channel.
various combinations. lhymoxamine is not available in the US.
- Pupillary block: lridolenticular touch causes
resistance of aqueous flow from the posterior
chamber to the anterior chamber. Elevated
posterior chamber pressure causes the iris to bow
forward and occlude the trabecular meshwork.
54
ACUTE PRIMARY ANGIE-CLOSURE GIAUCOIII I
DIFFERENTlAL DIAGNOSIS ADDITIONAL TREATMENT The patient will require life-time monitoring for lt1e
Malignant glaucoma General Measulti development or progression of glaucoma.
Secondary angle dosure Compression gonioscopy may open lt1e angle allowing A full examination, including visual fields and optic
o Gla ucom atotyditic crisis (Posner-Schlassman traberular flow. nerve head/nerve fiber layer imaging, should be
syndrome) completed to assess fur glaucomatous d1anges. A
lssws for Referral
Herpetic uveitis Surgical intervention as listed below dilated examination should be campi eted when
o Pigmentary glaucoma deemed safe for the patient
Additional Therapies
Pseudaexfoliative glaucoma Pilocarpine is not an a~emative to iridotomy. DIET
Neovasa.~lar glaucoma No dietary modifications are lnd lcated.
fl
Intervention is dependent upon the undertying cause PATIENT EDUCATION
TREATMENT of angle dosure. Medical management does not The patient should be educated about the nature of
correct the palt1ology in this condition or decrease the hiS/her disease and concerning symptoms to manltor.
MEDICATION risk of recunrent episodes. Laser or surgical Medications that may result in narrowing of the
FlrstUne intervention is required. anterior chamber angle (see above) should be
Topical oculu hyp01enslves dlscmsed with the patient.
Pupillaty Bloclc:
- Plloca rplne should not be used as a flrst line agent - Peripheral laser iridotomy (with Argon or Yag PROGNOSIS
for angle dosure. Despite its miotic effect, laser) should be done as soon as possible. Prompt treatment with adequate lOP reduction
pilocarpine may worsen angle closure due to o If attack Is broken med lcally, one may consider minimizes resultant optic neuropathy.
anterior displacement of the lens-iris diaphragm. waiting for corneal edema to dear to complete Continued elevation of intraocular pressure
Additionally, the miotic response may be Iimited iridotomy. following laser PI may be due to peripheral anterior
by iris ischemia. - SurglcaI Iridectomy should be considered when syned1ia, incomplete iridotamy, underlying open
- Aqueous suppressants laser treatment cannot be accomplished. angle glaucoma, or secondary angle dosure. Treat
o p-blockers, alpha 2 agonists, carbonic - Argon laser peripheral iridoplasty may be used these appropriately.
anhydrase inhibitors when angle dosu re is unresponsive to medical o Primary angle-closure glaucoma is the leading cause
- Outflow fad litatars therapy, as an alternative to laser iridotomy, or if of glaucomatous bll ndness wortdwlde.
o Prostaglandins laser iridotomy fails.
-Steroids may be helpful in reducing any coincident - Goniosynechialysis COMPUCATIONS
or contributory inflammatory swelling. o Ischemic optic neuropathy
l'latNu lrls
o Prednisolone, Durezol - Argon laser peripheral iridoplasty Rl!linal vascular ocdusion
S,sternic carbonic anhrdrase inhibitors - Peripheral laser iridotomy should be performed in Chronic angle closure (PAS)
- Acetllzolam ide an attempt to eliminate any pupillary block Trabecular meshwoiX injury
o Diamax 125-250 mg PO q.i.d componem. Accelerated cataract prog resslon
o Dlamax Sequels 500 mg PO b.l.d - Pilocarpine can place lt1e iris on stretch and open CorneaI decompensation
o Diamox 500 mg IV b.i.d the angle.
o Do not exceed 1g in a 24-hour period. - Some cases may be responsive to surgical lens
o Contraindicated In severe renal disease, hepatic extraction. ADDITIONAL READING
disease, severe pulmonary obstruction, and P111comorphk
adrenocortical insuffidency. - There is often an element of super-imposed Aptel F. Ph lllppe D. Optical coherence tomography
- Metl1azolamide SQ-1 00 mg PO b.i.d pupillary block, so if possible, peripheral laser qualitative analysis of iris volume changes after
o Contraindicated in renal insufficiency. pharmacologic mydriasis. OphthaJmDiagy.
iridotomy should be preformed.
o s,m.mic hyparosmotic 201 0;117(1):3-10.
- SurgicaI lens extraction
- Mannitol1.s-2 g/kg IV over 30 min period Trabeculectomy or glaucoma drainage device (i.e., Foster P. lowS.. Primary angle closure glaucoma. In:
o 20% solution (7.5-10 mUkg) ShaarawyTM. Shurwaod MB, Hitchings RA,.I!I al.
tube shunt) placemem may be necessary for
o 15% solution (10-13 mUkg) Eds. Glaucoma, Vol I, Philadelphia: ElseYier; 2009:
inadequately controlled lOP after the above
o Do not aceed 500ml in a 24-hour period. 327-337.
measures.
o Contraindicated in anuria, progressive renal Tarongoy P, Ho CL Walton 05. Angle-dosure
failure, CHF. severe dehydration, or Intracranial glaucoma: The role of the lens in the pathogenesis.
bleeding. ONGOING CARE prevention, and treatment. SutY Ophtha/mol
2009;54(2):211-225.
SeeondUne FOLLOW-UP RECOMMENDATIONS
Analgesic and antiemetic medications can be used Quigley HA. Editorial: The iris is a sponge: A cause
Laser peripheral iridotomy in fellow eye should be
to control symptoms of acute lOP rise. of angle dosure. Of/ltha/mology, 2010;116(1): 1-2.
done as soon as possible.
Topical osmotic medications can temporarily Quigley HA. Angle-dosure glaucoma-simpler
l'll&nt Monitoring answers to complex mechanisms: LXVI Edwand
dehydrate a swollen cornea to facilitate laser
The ischemia caused by acute angle closure may Jackson Memorial lecture. Am 1Ophthalmol
treatment. result in decreased aqueous production by the dliary
- Glycerin (apply topical anesthl!lic first) 2009;148(5):657--669. el.
bo~. Rebound hypertension or recurrent angle
Muro-128 dosure may develop if the anatomical problem is
nat resolved. The patient should be monitored very . CODES
dosely to ensure stability of 10Pand unimpeded
fiow of aqueous from lt1e anterior chamber (open
ICD9
angle. filter, tube shunt. etc.).
365.20 Primary angle-dosure glaucoma, unspecified
365.22 Acute angle-dosure glaucoma
365.61 Glaucoma associated with pupillary block
55
ACUTE RETINAL NECROSIS/NECROTIZING HERPETIC RETINITIS
Matthew Debiec
Mark L. Nelson
Lab
Initial lab tests
DESCRIPTION HISTORY
Diagnostic confirmation can be made by polymerase
Infectious retinitis caused by members of the herpes Presenting symptoms may be minimal and include
chain reaction {PCR) analysis of aqueous sample or
virus family, predominantly Varicella Zoster Virus irritation, redness, photophobia, periorbital pain,
vitreous biopsy. PC Rhas the highest specificity and
and Herpes Simplex Vinus and floaters_
sensitivity ofavailable laboratory studies_
Syndrome characterized by anterior uveitis, vitritis, One epidemiologic study noted sudden visual loss as - Other laboratory methods that have been used
peripheral foci of retinal necrosis that extend the main presenting complaint in 85% of cases; and may suggest an etiologic agent or diagnosis
posteriorly and circumferentially, retinal photophobia is reported in over half of patients, include local and/or systemic antibody titers,
vasculopathy, and retinal detachment whereas ocular pain and flu-like symptoms are Goldmann-Witmer coefficient, fluorescent
present in one-quarter of cases; a minority of antibody techniques, or tissue culture_ These tests
EPIDEMIOLOGY patients (1 6%) presented with a red eye_ are indicative but not usually considered
lnddence It is a clinical diagnosis: diagnostic_
Approximately 1case in 1.6/2.0 million, although -The American Uveitis Society criteria include:
there are few significant epidemiologic studies. Follow-up & special considerations
o One or more discrete foci of peripheral retinal
Generally affects healthy, immunocompetent hosts Detailed examination of the both eyes at each visit
necrosis
is critical as the infectious process can spread
Bimodal distribution with peaks at 20 and 50 years o Circumferential spread
bilaterally.
of age o Occlusive arteriolar retinopathy
o Prominent vitreous or anterior chamber Imaging
RISK FACTORS Initial approach
inflammatory reaction
Previous ocular herpetic infections including HSV Color photographs are useful to follow disease
o Rapid disease progression in the absence of
keratitis, Herpes Zoster Ophthalmicus; as well as progression_
therapy
systemic herpetic infections such as cold sores,
chickenpox. encephalitis, and shingles PHYSICAL EXAM Pathological Findings
Immunodeficiency may play a role, although the Inspect for anterior uveitis including episcleritis, Full-thickness retinal necrosis with eosinophilic
majority of cases occur in immunocompetent scleritis, and/or keratic precipitates. At presentation, intranuclear inclusions_ Choroidal inflammation can be
patients. over 80% of patients have anterior chamber activity, granulomatous and usually underlies areas of retinitis.
vitreous activity, or peripheral retinal involvement. The optic nerve, iris, and ciliary body may be also
Genetics infiltrated with plasma cells, eosinophils, or
Vary within different ethnicities: In the US, Posterior segment manifestations typically develop
within 2 days of initial symptoms and appear as macrophages.
Caucasian patients often manifest HLA-DQw7
antigen; Japanese patients tend to manifest well-defined, multifocal patches of yellowistr-white DIFFERENTIAL DIAGNOSIS
HLA-Aw33, 844, and DRw6_ or cream colored retinal infiltrates. Progressive outer retinal necrosis
Cases with more fulminant presentation are Vascular sheathing and perivascular intraretinal Cytomegalovirus retinitis
sometimes associated with HLA-DR9. hemorrhages may develop_ Behcet's disease
Retinal necrosis progresses rapidly and spreads Toxoplasmosis retinochoroiditis
PATHOPHYSIOLOGY circumferentially and posteriorly; the macula is often
Remains to be fully described; latent viral Sarcoidosis
spared.
reactivation and primary infection with Herpes virus large cell lymphoma
6-12 weeks after infection, proliferative
have been reported to migrate by axonal transport Syphillic neuroretinitis
vitreoretinopathy may lead to retinal holes at the
to the retina and surrounding tissues. border of normal and affected retina. Candida alb/cans endophthalmitis
On histopathology, there is intranuclear Rhegmatogenous retinal detachment may occur in
accumulation of viral particles at multiple foci, with over 50% of affected eyes, usually within 1-2
subsequent granulomatous and non-granulomatous months, although it can occur anytime from 1 week
inflammation and necrosis_ to around 6 months_
ETIOLOGY 20% of patients have bilateral infection at
Several members of the Herpes virus family cause the presentation_ Spread to the contralateral eye
inciting infection; vzv accounts for the majority of typically occurs within 3 months of symptom onset.
cases (reported at approximately 50%), but HSV-1, Systemic antiviral therapy reduces the risk of
HSV-2, CMV. and EBV have also been reported_ infection in the second eye from roughly 65-17%.
56
ACUIE REniW. NECIIISISINECIIOTIZII& HERPEIIC REniiTIS I
=~.:~~u~::oJtec~i~~o;~~~~;1~~152.
1
. TREATMENT ONGOING CARE
PROGNOSIS Allman A. Johnson MW, Elner SG. Treatment of
MEDICATION o Risk factors for poor outcomes and worse final acute retinal necrosis syndrome with oral antiviral
RrstLine visual awity include initial visual acuity and medications. Ophthalmology 2007;114(2):
Historically, ARN was first managed with 3
subsequent retinal detachment. 07-312.
Intravenous acyclovir at 500 mg/m2 3 times dally for
7-10 days followed by oral acyclovir at 800 mg Retinal detachment occurs w1til similar frequency In
5 times daily for up to 14 weeks. the newer antiviral era when compared with the . CODES
Newer antivirals have been used in different acydovir-only era.
combinations sud! as: o Final visual aw ity of patients with ARN is ICD9
- Valacydavlr 1-2 g 3 times dally significantly worsened despite the advent of new 053.29 Herpes zoster with other ophthalmic
- Famdclovir 25()....500 mg twice daily antlvlriI medications and surglcaI Interventions with complications
- Valgandclovir 45()....900 mg twice daily some studies shawl ng half of patients having acuity 364.3 Unspedfled lrldocydltls
-IV acyclovir with intravitreal injection of foscarnet worse than 20/200 by 3 months and 75% having 379.29 Other disorders ofvitreous
or gandclovir acuity worse than 201200 by 5 years.
- Oral wlacyclovir or famcidovir followed by IV COMPUCATlONS
acyclovir Retinal detachment, optic nerve involvement, CLINICAL PEARLS
Second Une vitreous hemorrhage, retinal neovascularization, and
blindness. Acute retinal necrosis can present in an insidious
lntravitreal injections of foscamet (1.2-2.4 mg per
0.1 ml) and ganciclovir (200-2000 ~g per 0.1 ml) manner and easily be misdiagnosed as an anterior
uveitis Ha dilated fundus examination Is not
have been used as adjunctive therapy.
Systemic corticosteroids (often prednisone ADDITIONAL READING performed.
The other eye can frequently become involved, so
30-80 mg daily) are used in more than haH of o Tibbetts MD, Shah CP, Young LH, et al. Treatment of systemic antiviral therapy and close monitoring of
patients. acute retinal necrosis. Ophthalmology 2010;1 17{4): the other eye is very important.
Most patients receive topical corticosteroids in the 813--824. Diagnosis Is made by clinical findings alone, but
initial treatmEnt period anywhere from every o Muthiah MN, Michaelides M, Child cs, et al. Acute testing such as PCR can help lfthere Is a diagnostic
1~hours. retinal necrosis: A national popu latlon-based study dilemma.
ADDITIONAL TREATMENT to assess the lnddence, methods of diagnosis,
Issues for Referral treatment strategies and outmmes in the UK. Br1
O{ilthalmo/ 2007;!11 (11}:1452-1455.
Patients with suspected ARN require prom p1 referra I to
a weitislretinal spedalist because of the rapid, severe o Lau CH, Missotten T, Salzmann J, et al. Acute retinal
sequelae of untreated infection and due to the necrosis features, management, and outcomes.
possible need for vltrectomy and/or laser retfnopexy. OtiJ rha/mo/O!JY 2007; 114(4):756--762.
o Hillenk:amp J, Nolle 8, Bruns C, et al. Acute retinal
SURGERYIOTHER PROCEDURES necrosis: dinicaI features, early vitrectomy, and
Prophylactic argon laser retinopexy has been found outcomes. O{ilthalmo/ogy 20[)9;1 16(10):
in some studies to reduce the inddence of .secondary 1!171-1975.
RD by apprOld mately halt whereas others find no
significant dHference.
Vrtrectomy is usually performed for dense vitreous
opacities. vitreous hemorrhage. or after secondary
retinal detachment
IN-PATIENT CONSIDERATIONS
Admission CritBia
No dear admission aiteria have been eluddated. Such
decisions are typically made based on the clinical
situation.
57
ADIE TONIC PUPIL
Kenneth C. Kubis
Joseph W Schmitz
PATHOPHYSIOLOGY
Postganglionic parasympathetic de nervation of iris
sphincter
DESCRIPTION Aberrant reinnervation of the iris sphincter by ciliary HISTORY
Idiopathic, postganglionic parasympathetic gangIion axons originally destined for ciliary body Incidental anisocoria
denervation of the iris sphincter, followed by Blurred near vision
aberrant reinnervation, which results in segmental ETIOLOGY Photophobia
and sluggish pupillary reaction to light, pupillary Idiopathic
light-near dissociation, and slow redilation after
PHYSICAL EXAM
COMMONLY ASSOCIATED CONDITIONS Affected pupil constricts more with accommodation
accommodation effort Holmes Adie syndrome- than with light and redilates slowly
On initial presentation, 80% of cases are unilateral. - Tendon Areflexia
If unilateral, anisocoria that is greater in light than
4% of unilateral cases per year become bilateral. Ross Syndrome- dark
Affected pupil is initially larger but ttlen tends to - Holmes Adie syndrome Segmental contraction of pupil sphincter that is best
undergo a gradual miosis becoming smaller than -Segmental hypohidrosis seen at slit-lamp
unaffected pupil over years.
Approximately 10% of patients may have no light
EPIDEMIOLOGY reaction.
Incidence Deep tendon reflexes to assess for Holmes Adie
Estimated at 4.7 per 100,000 per year syndrome
Prevalence Relative accommodative weakness compared to
Estimated at 2.0 per 1,000 contralateral eye
RISK FACTORS ALERT

Approximately 70% female Full ophthalmic examwith particular attention to
Mean age 32 years eye motility and ptosis to rule out third nerve palsy
and Homer syndrome.
58
ABlE TONIC PUPIL I
DIAGNOSnC TESTS & INTERPRETAnON Kardon RH, Corbett JJ, Thompson HA. Segmental
Lab . TREATMENT denervatlon and reinnervation of ltle I~s sphl ncter as
Usually not Indicated unless atypical hlstcry or physical shown by Infrared vldeographlc transillumination.
examination to rule out other etiology for tonit pupil. MEDICATION Ophthalmology 1998; 1OS:313-321.
Dilute pilocarpine (O .1 %) as needed for photophobia
Diagnostic Ptocedures!Other
Dilute Pilocarpine drops (0.125%) administered to
bolt! eyes wi II show c:onstriction of effected pupil,
due to large pupil.
ADDmONAL TREATMENT
a See Alao (Taplc, Al1altthm, Electronic
~ Media Ele11entJ
and not the normal pupI~ due to denervatlon Issues for Referral
supersensitivity. Anisocoria algorithm
Neurology or neu m-ophthalmology referral if ltle
Positive in 80% of patients diagnosis is in doubt.
,athologkal Findings
CiIiary body has reduted number of ganglion tells.
. CODES
$ ONGOING CARE
DIFFERENnAL DIAGNOSIS lCDI
FOLLOW-UP RECOMMENDATIONS 379.46 Tonic pupillary reaction
ALERT AOJte tonic pupil should be followed periodically for
Tonic pupil (espedally when bilateral) may be deelopment of light near dissociation.
sec:ondary to many etiologies and a thorough Periodic evaluation for idenlification of underfying CLINICAL PEARLS
hiStDry and physicaI should be undertaken to etiology
identify potential UNDERLYING disease Pupil with lightneardissociation
PROGNOSIS Slow redllatlon (ton lc) after acc:om modatlon
Secondary tonic pupil due to: Excellent.
Approximately 90% show sector palsy of Irls
- Inflammation sphincter with remainder showing no light reactivity
-Infection ADDITIONAL READING and mimicldng phannac:ologic dilation.
-lsd1emia
-Trauma Thompson HS. Adie's syndrome: Some new
- Generalized neuropathy observations. Trans Am OJilthalmol Soc 1977;
Physiologic anisocoria 75:587-26.
Third nerve palsy Weller M, Wilhelm H, Sommer N, et al. Tonic Pupil,
Pharmacologic mydriasis areflexia, and segmental an hidrosis: Two addltlonaI
Iris damage (traumatic myd~asls, siderosis) cases of Ross syndrome and a review of the
literature. J Neuro/1992; 239:231-234.
59
AGE-RElATED MACUlAR DEGENERATION AND POLYPOIDAL
CHOROIDAL VASCULOPATHY
G. Atma Vemulakonda
~ BASICS Genetics
Genes associated with increased risk of AMD
- Complement Factor H (CFH) on 1q32
~ DIAGNOSIS
DESCRIPTION o Homozygosity for risk allele increases risk by HISTORY
Age-related macular degeneration (AMD) is a factor of 7.4 (4) AMD
leading cause of irreversible blindness among older - LOC 387715 on 1Oq26 - Central blurring, distortion, blind spot, or no
patients in the developed world (1) - HTRA1 on 1Oq26 symptoms (non-exudative)
- AMD is the leading cause of legal blindness in Genes associated with increased risk of PCV PCV: Central blurring, distortion, blind spot, or no
patients ;::65 years in the US - LOC 387715 on 1Oq26 symptoms
- 90% of AM D patients have the non-exudative or - HTRA1 on 1Oq26 PHYSICAL EXAM
"dry" form AMD
- 10% have the exudative or "wet" form GENERAL PREVENTION
AMD - Findings in non-exudative AMD include drusen,
Polypoidal choroidal vasculopathy (PCV) is a retinal pigment epithelial changes, and retinal
separate disease from AM D, characterized by - Smoking cessation
-Age-related eye disease study (AREDS) vitamins thinning/atrophy
abnormalities in the inner choroid, external to the - Findings in exudative AMD include vitreous
choriocapillaris, including a branching network of for appropriate patients
o 25% decrease in progression to advanced AMD hemorrhage, pigment epithelial detachment
dilated vessels that leads to serous leakage and (PED), retinal and subretinal hemorrhage, lipid,
hemorrhage. in high risk individuals (patients with
intermediate or advanced AM D) fluid, and RPE tear
- PCV predominately affects patients of African and Suspect PCV in an elderly patient with an exudative
o Vitamins include: Vitamins C&E. zinc. beta
African American descent and Asian patients. wittl maculopathy and:
a lower incidence in Caucasians carotene, and copper
- Nonwhite patient
EPIDEMIOLOGY PATHOPHYSIOLOGY/ETIOLOGY - Peripapillary CNV
AM D most likely a combination of: - Few or no drusen in the fellow eye of a patient
Incidence - Senescent retinal pigment epithelium (RPE)
Overall 5-year incidence of late AMD was 0.9% (2) with unilateral involvement
accumulates remnants of rod and cone
Incidence of Early AMD increased from 3.9% in membranes ttlat leads to diminished RPE function DIAGNOSTIC TESTS & INTERPRETATION
patients aged between 43-54 years to 22.8% in and drusen formation Imaging
patients > 75 years (2) -Vascular theory proposes that choroidal circulation Initial approadl
No clear incidence data available for PCV is diminished leading to retinal ischemia AMD: Fluorescein angiography (FA) and optical
Prevalence - Genetic theory based on findings of AM Dspecific coherence tomography (OCT)
Total prevalence of any AMD in the 1991 civilian gene mutations PCV: lndocyanine green angiography (ICG), FA, and
population ~ 40 years was 9.2% (2) PCV results from (5) OCT
In the US, neovascular AMD and/or geographic - Inner choroidal vasculature abnormalities (most Follow-up i spec:ial considerations
atrophy in Americans 40 years and older is common type) AMD
estimated to be 1.47% (2004 data) (1) - Polypoidal CNV. expanding rapidly under the RPE, - OCT to follow disease course and response to
PCV: Prevalence varies from 4-14% ultimately with polypoidal lesions developing at treatment
- In Asians, men are more affected, usually vessel termini. - FA as needed to help determine end points for
unilaterally in the macula (3). - Radiation associated choroidal neovasculopathy treatment
- Rates may be as high as 23-54% in Japanese COMMONLY ASSOCIATED CONDITIONS PCV
patients diagnosed with AMD (3) AMD - OCT to follow disease course and response to
- In Caucasians, women are more affected -HTN treatment
bilaterally in the peripapillary region (3) - Elevated cholesterol - ICG and FA as needed to help determine end
RISK FACTORS points for treatment
AMD Diagnostic Procedures/Other
-Age AMD
- Family history -ICG
- Race (Caucasians 5-ii times more frequently
affected than African Americans)
- Cardiovascular risk factors including elevated
cholesterol and hypertension
- Cigarette smoking
- Gender (women slightly more than men)
-Obesity
PCV: Ethnicity and age
60
AGE-RELATED MACUlAR DEGENERATION AND POLYPOIDAL CHOROIDAL VASCULDPATHY I
Pathological Findings Smnd Um~ PAnENT EDUCATION
AMD AMD AMD: http://lw.lw.aao.org/eyesmartldisease5/amd.cfm
- Non-extJdatlve: Accum ulatlon of rod and cone -lntravltreal anti-VEGF Injections: Ma01gen
membranes leading to drusen, RPE pigment -PDT based on the greatest linear dimension a1 the PROGNOSIS
changes, and eventual retinal atrophy choroidal lesion seen on FA Normal Iifespan, development, intelligence. and
- Exudative: Subrelinal and Sub RPE choroidal -Conventional tl1ermallaserfor non-subfoveal fertility
neDWJscular membranes lesions l'lwgrumcy Conslde1'8tlons
PCV pathology reveals (6): - lntravltreal steroid Injection PC't. Concern for toxldty of PDT and anti-VEGF
- Large choroidal arterioles with an inner elastic -Combination treatment treatments In pregnancy
layer Combination al anti-VEGF+I- PDT +I- AM D: Not applitable
- Disruption of the inner elastic layer and lntravitreal steroid
arteriosderotic changes of the vessels were o May be more useful in patients witl1 poor COMPLICAnONS
identified by light microscopy. response to treatment AMD and PCV: VISion loss
-Transmission electron microscopy demonstrated ADDmONAL TllEATMENT
increased deposition of basement membrane-like REFERENCES
materiaI, toget11er with collagen fibers, in the Gene111l MNSUIB
arteriolar wa lis AMD 1. Friedman DS, O'Colmain BJ, Munoz B, et al.
ARE D5 vitam ins Prevalence of agHelated maOJlar degeneration In
DIFFERENTlAL DIAGNOSIS Modifiable risk. reduction: Control of HTN, high
AMD and PCV: tl1e United States. ArdJ Ophrha/mo/ 2004;122(4):
d1olesterol, obesity (high Body mass Index), and 564-72.
- Degenerative myopia, angioid streaks, pattern smolclng cessation
dystrophies, presumed ocular histoplasmosis 2. Klein R, Klein BEK, Jensen SC, et aI. The five year
syndrome, multilocal dloroiditis. serpiginous Issues for Refeal incidence and progression of age-related
choroiditis, Best's disease, 5targardt's disease. Refer to retina spedalist for evaluation and treatment maOJlopathy. Ophthalmology 1997;104:7-21.
gyrate atrophy, retinitis pigmentosa, d1oroidal of both AMD and PCV 3. Klel n RJ, Zeiss C, Chew EY, et al. Complement
rupture/trauma, Idiopathic SURGERY/OTHER PROCEDURES factor Hpolymorphism in agerelated Macular
AMD Degeneration. Sdence 2005;308(5720}:385-389.
- Submacular surgery found to be less helpful in 4. Gomi F, Tano Y. Polypoidal choroidal vasculopathy
. TREATMENT treating exudative AM D and ln!atments. CUlT Opin Ophtha/mo/ 2008;19{3):
20&-12.
MEDICATION 5. Yuzawa M, Marl R, Kawamura A. The o~glns of
Fli'St Line ONGOING CARE polypoidal dloroidal vasOJiopathy. Br I Ophrha/mol
AMD 2005;89(5):602~7.
-lntravttreal anti-VEGF Injections FOLLOW-UP RECOMMENDATIONS
6. Kuroiwa S, Tateiwa H, Hisatomi T, et al.
o Bevadzumab Retinal specialist
Pathologital features of surgitally excised
o Ran ibizumab Low vision evaluation for patients with vision loss polypoidal d1oroldal vasOJiopathy membranes. cnn
PCV: Patient NIDI'Iltorlng Expelfmenr Ophrhalmo/ 2004;32(3):297-302.
- Conventional thermal laser for non subfovea I See follow-up
lesions Home Amsler Grid
- Photodynamit therapy (PDT) for subfoveallesions, . CODES
based on the greatest linear dimension of the DIET
choroidal lesion seen on ICG AMD
o Reduted fluence PDT may be useful in certain - AREDS nutrient supplementation for patients with ICD9
cases intermediate or advanced AMD 362.50 MaOJiar degeneration (senile) of retina,
-lntravitreal anti-VEGF injections. appear to be less - Balanced diet unspecified
effective than with AM D based on studies to date - Omega-3 fatty adds, lutein, and zeaxanthin 362.51 Nonexudlative senile macular degeneration
-Combination therapy al anti-VEGF and PDT OJrrently under Investigation In AREDS II trial of retina
appears prom ising 362.52 Exudative senile macular degeneration of
retina
61
AGE-RElATED (SENILE] RETINOSCHISIS
Adam T. Gerstenblith
Sunir Garg
~ BASICS
ETIOLOGY DIAGNOSTIC TESTS & INTERPRETATION
Generally develops as a consolidation of intraretinal Imaging
cysts in an area of peripheral cystoid degeneration Initial approach
DESCRIPTION - Begins anterior at the ora serrata and extends Photographs to document posterior extent of the area
Age-related (senile) retinoschisis (SR) is an acquired posteriorly of retinoschisis may be useful for comparison on
condition characterized by splitting of the retina into 2 -The splitting most often occurs in the outer follow up.
separate layers. plexiform layer Follow-up i spec:ial considerations
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS Asymptomatic and peripheral age-related retinoschisis
Incidence Hyperopia can be followed every 2-3 years.
Not clearly defined. An RRD may develop secondarily. Diagnostic Procedures/Other
Prevalence Visual field testing reveals an absolute scotoma in the
Ranges from 1.65-7% among persons older than
40 years (l)[C]
~ DIAGNOSIS areas of schisis.
Pathological Findings
Generally equal in male and females HISTORY There are 2 main types of acquired retinoschisis:
Age-related retinoschisis is usually asymptomatic -Typical degenerative retinoschisis
RISK FACTORS
and is detected on routine examination. o The more common subtype in which the
Preexisting peripheral retinal cystoid degeneration
Some patients may have peripheral visual field loss, splitting occurs in the outer plexiform layer
Hyperopia
flashes and floaters, and central vision loss. - Reticular degenerative retinoschisis is
Genetics characterized by cystoid spaces and splitting
Unknown. PHYSICAL EXAM within the nerve fiber layer
Dilated funduscopic examination shows: o Breaks in the outer retina occur in 11-24% of
GENERAL PREVENTION -A smooth dome-like elevation of the retina that
None. cases, and may lead to rhegmatogenous retinal
remains fiXed in position and does not undulate.
detachment.
PATHOPHYSIOLOGY -Often bilateral (one-fifth to half of the cases) but
Vision is not significantly affected when the schisis can be asymmetric.
cavity remains in the periphery - Most commonly located inferotemporally
- Peripheral cystoid degeneration is seen anterior to
Visual loss occurs predominantly in 2 circumstances:
the schisis cavity.
-The area of retinoschisis extends posteriorly
- Inner and/or outer retinal holes may be present.
toward, or into, the macula (occurs in 3% of
- Fine, irregular white dots may be seen on the
cases).
retinal surface.
-An associated rhegmatogenous retinal
- Sclerotic retinal vessels in the area of schisis
detachment (RRD) develops.
-The inner layer does not collapse on scleral
depression.
62
AGE-RElATED (SENILE) RETINDSCHISIS I
DIFFERENTlAL DIAGNOSIS REFERENCES
Rhegmatogenous retinal detachment. This Is the ONGOING CARE 1. Bud1 H, Vinding T, Nielsen NV. Prevalence and
most important condition to differentiate from
age-related retinoschisis. Chronic rhegmatogenous FOLLOW-UP RECOMMENDATIONS long-term natural course of retinoschisis among
retina I detachments aIso may appear smooth and Dilate<! fundus examination every 1-3 years for elderly individuals: The Copenhagen City Eye Study.
dome<l. The presence af plgmem In the vitreous, or uncomplicated SR without holes Ophrha/mo/ogy 2007;114{4):751-5.
a pigmented demarcation line suggests Patients with multiple retinal breaks or significant 2. Byer NE. Perspectives on the management of the
megmatogenous dellld1men!. posterior extension should be followed more complications of senile retinosd1isis. Eye(London)
- In some cases, dlfferenUatlng these 2 conditions dosely. 2002;16(4):359--64.
can be difficult. Two other ways to diagnose them - Should a retinal detachment develop or should
are: 1) Laser retinopexy to the cavity will cause a there be a question of an assodated retinal
bum in retinosd1isis. but not in a retinal detachment, prompt referral to a retinal spedallst . CODES
detachment. and 2) Optical coherence is advised.
tomography (OCD at the edge of the sd1 isis cavity Patlfmt Monitoring ICD9
wi II show a complete neurosensory retinal Patients should be counseled to return to the 361.13 Primary retinal cysts
detachment in a rhegmatogenous detad1ment, ophthalmologist if any changes in vision own. 361 .19 Olhl!l' retinosch isis and retinal cysts
and a splitting of the neurosensory retina with
apposition of the pholllreceptors and retinal PROGNOSIS
pigment epithelium in cases of retinosth isis. Vision is typically unaffected or only minimal~
affected If the area of retlnoschlsls remains CLINICAL PEARLS
fl TREATMENT peripheral.
The prognosis is significantly worse should a retinal
detadlment develop.
This is an idiopathic acquired condition in older
patients dlaracterize<l by bullous retinal elevation,
most often located lnferotemporally.
COMPLICATIONS Usually bilateral but may be asymmetric
The majority af cases only nEEd observation as they
progress slowly, if at all (1). RRD Visual prognosis is often excellent and most cases
For SR that extends into the posterior pole, Posterior extension of the retlnoschlsls can be observe<!.
demarcation with cryotherapy or laser reti nopexy The most imporlllnt consideration is differentiating
can be considered (2). However, most of these may age-related retinoschisis from an RRD and
be observed as rare~ does age-related retinoschisis monitoring for its development.
read1the macula, and cryotherapy may increase
form atlon of retinal detachmem.
If a frank RRD develops, surgical repair with sderal
buckle or pars plana vib'ectomy is usually necessary
(1,2).
63
AICARDI SYNDROME
Scott E. Olitsky
A Paula Grigorian
~ BASICS
COMMONLY ASSOCIATED CONDITIONS Major features
Ocular associations - Cortical malformations (mostly polymicrogyria)
- Cardinal feature: Chorioretinallacunae (see - Periventricular and subcortical heterotopias
DESCRIPTION below) - Cysts around third cerebral ventricle and/or
Genetic neurodevelopmental disorder characterized - Congenital optic disc anomalies: Coloboma, choroid plexus
by the triad of: hypoplasia, congenital pigmentation - Optic disc/nerve coloboma or hypoplasia
- Infantile spasm type seizure disorder - Microphltlalmia, retinal detachment, nystagmus Supporting features
-Agenesis of corpus callosum Systemic associations -Vertebral and rib abnormalities
- Chorioretinallacunae -Vertebral malformations: Fused vertebrae, -Microphthalmia
EPIDEMIOLOGY scoliosis. spina bifida, costal malformations -"Split-brain" EEG, infantile spasm hypsarrhythmia
(absent ribs, fused or bifurcated ribs) - Cerebral hemispheric asymmetry
lnddence
-Muscular hypotonia, microcephaly, dysmorphic -Vascular malformations or vascular malignancy
Unknown but very rare
facies, auricular anomalies
Prevalence - Brain anomalies: Dysgenesis of tile corpus ALERT
Kroner (1) estimated there to be greater ttl an 853 callosum (complete or partial), cerebral asymmetry All 3 classic features present are diagnostic for
cases in the US and several thousand cases with polymicrogyria or pachygyria, periventricular Aicardi syndrome.
worldwide. and intracortical gray matter heterotopias. midline 2 classic features plus 2 other major or supporting
RISK FACTORS arachnoid cysts, choroid plexus papillomas, and features are suggestive
None known, genetic disorder ventriculomegaly and intracerebral cysts, often at
the third ventricle and in the choroid plexus. DIAGNOSTIC TESTS & INTERPRETATION
Genetics Severe mental retardation
Presumed X-linked dominant disorder Lab
- Gastrointestinal: Constipation, diarrhea,
Lethal in males, affected surviving males rare and Routine lab tests-normal
gastroesophageal reflux, difficulty feeding
usually have chromosomal aberration of sex - Integument: Vascular and pigmented lesions Karyotype and if normal, microarray, recommended
chromosomes (e.g., translocation, XXV) Imaging
~ DIAGNOSIS
No gene definitively identified Initial approach
Phenocopy dell p36 MRl with and without contrast to look for brain
(NOTE: Not to be confused with AicardiGoutieres malformations
HISTORY
syndrome) Infants 3-5 months of age may present with: Follow-up & special considerations
Decreased visual acuity, amblyopia, or strabismus, but Neurology managements of seizures
GENERAL PREVENTION Support for multiple care needs: Usually severe
Unknown, prenatal genetic testing not available more often present with neurological manifestations
of developmental delay, hypotony, and intractable developmental delay and totally care-dependent
Prenatal ultrasound can detect corpus callosum
seizures If requires vigabatrin for seizure control, follow
abnormalities
protocols for monitoring retinal and optic nerve
PATHOPHYSIOLOGY PHYSICAL EXAM effects with periodic eye examination,
Developmental defect presumably of neuroectoderm Classic triad electroretinography, and possibly optical coherence
- infantile spasms
tomography
EnOLOGY - agenesis of corpus callosum
Presumed gene mutation - chorioretinallacunae
64
AIC- SYNIIIOME I
Diagnostic ProCIIrJu/WSIOthaT REFERENCE
EEG . TREATMENT 1. Kroner BL Preiss LR. Ardini MA. et al. New
Pathological Findings Incidence, prevalence, and survival of Alcardl
Chorioretinallacunae represent foc:althi nning and MEDICATION
o Symp!Dmalic syndrome from 408 cases. J Child Neuro/
atrophy of retinal pigment epitheli urn and choroid. The
- Seizure control: Antl-i!plleptlc drugs (vlgabat~n) 2008;23(5):531-5.
overlying retinal architecture is .severely disrupted and
there may also be hyperplastic and ettopic retinal and vagus nerve slim ulators. Physical therapy,
pigment epithelium occupational therapy, and speech therapy.
ADDITlONAL READING
DIFFERENTlAL DIAGNOSIS ADDmONAL TREATMENT
Genei'81111HSUlfiS Akardi J, Lefebvre J, Lerique-Koechl in A. A new
Agenesis of the corpus callosum - isolated or in
Developmental delay usually too severe to justify syndrome: Spasm in flexion, callosaI agenesis,
conjunction with other brain malformations and
low vision Intervention ocular abnormalities. Eled!oenaphaiogr Clin
syndromes
Neurophysiol 1965;19:609-10.
Neuronal migration disorders: Polymlaogy~a. LOW vision community support
Galdos M, Martinez R, Prats JM. Clinical outcome of
parhygyria, heterotopias - isolated or as part of the Issues for Referral distinct aic:ardy syndrome phenotypes. Arch Soc Esp
phenotype assodated with other syndromes or Neurology, gastroenterology, and dermatology, as Ofta/mol 2008;83:29-36.
chromosome abnormalities needed o McMahon RG, Bell RA, Moore GR. et al. Aicardi's
Oc:ulocerebrOOJtaneous syndrome: Orbital cysts and
syndrome. A dinicopathologic study. Ardl
anophthalmia or microphthalmia, focal skin defects, Ophlha/mo/1984;102(2):25~3.
brain malformations that Include polymlcrogyrta, $ ONGOING CARE
periventrkular nodular heterotopias, enlarged FOLLOW-UP RECOMMENDATIONS
lateral ventrides. and agenesis of the corpus o According to the eye findings
callosum - predominant in males with . CODES
If patient on vigabatrin foll~p (see above)
pathognomonic mid-hindbrain malformation
Long-term management by a pediatric neurologist ICD9
lnfantile spasms - isolated or as part of other with expertise in management of infantile spasms
syndromes, inborn errors of metabolism, or 742.2 Congenital reduction deformities of brain
and medically refractory epilepsy 743.10 Microphthalmos, unspedfled
chromosome disorders
Chorioretinallacunae are virtually pathognomonic PATIENT EDUCATION 743.57 Specified congenital anomalies of optic disc
for Aic:ardi syndrome. but they have also been Genetic cou nsellng - usually siblings not affected,
reported in orofaciodigital syndrome type IX recurrence risk low 1f chromosomes normal and
Mlaophthalmla and other developmental eje mother unaffected CLINICAL PEARLS
defects in X-li nked dominant disorders, such as o Support groups: WYtW.a icardisyndrome.org,
www.afb..org/CVI Chorioreti nal lacunae
Goltz syndrome and microphthaImia with linear skin
o Infantile spasms
(M l.S) defects www.rarediseases.org/searctvrdbdetaiL
abstract.html?dlsname = Alcardi+Syndrome o Agenesis of corpus callosum
Chorioretinallaamae: Congenital toxoplasmosis,
coloboma, "macular coloboma of Leber congenital PROGNOSIS
amaurosis, congenitaltxll'pedo maa.dopathy, o Ocular lesions usually have little effect on vision
prenatal varicella retinitis, prenatal c:ytomegalovirus. unless macula is involved
laser scars, trauma (including dJorioretinal scars
Usually severe cortical visual impairment
reported with abusive head injury)
Survlvalls highIV wrlable, with the mean age of
death about 8.3 years and the median age of death
about 18.5 years
COMPUCATlONS
Cause of death Is usually Intractable seizures.
aspiration or morbidity related to seYEil! neurologlc
delay
65
AlBINISM
Chirag P. Shah
Alex V. Levin
~ BASICS
RISKFAOORS COMMONLY ASSOCIATED CONDITIONS
Genetics Hermansky-Pudlak syndrome
Oculocutaneous albinism is usually autosomal - Platelet aggregation deficiency. More prevalent in
DESCRIPTION recessive. Autosomal dominant is rare. Puerto Ricans and Swiss. May have accumulation
Oculocutaneous albinism (OCA) is a group of Patients typically harbor 2 different mutations in 1 of ceroid throughout the body, leading to
hereditary diseases marked by absent or decreased gene for oculocutaneous albinism (i.e., compound pulmonary fibrosis, granulomatous enteropathic
melanin biosynthesis within melanocytes, or heterozygotes). disease, and renal failure
abnormalities of melanosome formation or -Tyrosinase (TYR) - OCA 1 Chediak-Higashi syndrome
function. - P-gene - OCA2 - Impaired bactericidal activity and thus an
- Hypopigmentation of the hair, sk.in, and eyes -Tyrosinase-related protein 1 {TRP 1) - OCA3 increased susceptibility to infection
- Four types of OCA - Membrane-associated transporter protein (MATP. Griscelli syndrome
o OCA1: Usually white hair, pale skin, and light - Large clumps of pigment in hair shafts.
also called SLC45A2)- OCA4
irides Immunodeficiency in one variant; neurologic
Ocular albinism is usually X-linked recessive. female
o OCA2: Usually less severe than type 1, more deficits in another
carriers may manifest signs by lyonization
frequent in African Americans, Africans and Prader-Willi
- G protein-coupled receptor 143 (GPR 143,
some Native Americans - Neonatal hypotonia, hyperphagia, and obesity,
albinism type 1). The gene protein controls the
o OCA3: Brown (BOCA) or rufous (ROCA), more
growth and maturation of melanosomes. small hands and fee~ hypogonadism, mental
frequent in Africa retardation
-Autosomal recessive ocular albinism has also been
o OCA4: Similar to type 2, more frequent in Japan
described. Angelman syndrome
and Turkey
- Digenic inheritance has also been reported. -Neonatal hypotonia, developmental delay,
- Because of phenotypic overlap, the types of OCA
microcephaly, severe mental retardation, ataxic
are most accurately distinguished by their genetic GENERAL PREVENTION
movements, inappropriate laughter
defects Genetic counseling
Ocular albinism (OA) is a disorder marked by Prenatal molecular diagnosis available when cultural
abnormal melanosomes (macromelanosomes),
though each is fully pigmented.
attitudes may result in psychosocial disability ~ DIAGNOSIS
PATHOPHYSIOLOGY
- Signs and symptoms are mostly limited to the eye. Ophthalmic features of oculocutaneous and ocular
Hypopigmentation in RPE during early gestation leads
EPIDEMIOLOGY to macular hypoplasia, which in turn leads to delayed albinism include various degrees of:
ganglion cell differentiation and abnormal chiasma! - Congenital nystagmus
Incidence - Strabismus
Varies by region, about 1 in 20,000 births worldwide decussation.
- Iris transillumination
The highest incidence in the world is found in the ETIOLOGY - Photophobia
Kuna Indians of the San Bias Islands of Panama The different types of oculocutaneous albinism are due - Hypopigmentation of the fundus
OCA 1and OA 1are the most common forms to genes involved in the biosynthesis of melanin and - Macular hypoplasia
Prevalence melanosomes in melanocytes (see Genetics"). - Reduced visual acuity (20/4D-20/400)
1in 17,000 people have one of the forms of albinism - Refractive errors
1 in 70 people are carriers for one of the implicated -Amblyopia due to strabismus or anisometropia
genes -Grey optic nerves with or without optic nerve
1in 60,000 males is affected by ocular albinism type hypoplasia
1, also k.nown as the Nettleship-Falls type, the most Cutaneous features of oculocutaneous albinism
common type of ocular albinism include various degrees of:
- Skin hypopigmentation
- Hair hypopigmentation
- May have nevi (ephelides)
66
ALBINISM I
HISTORY ADDITIONAL READING
Family history . TREATMENT
Decreased vision Grenskov K. Ek J, Brondum-Nielsen K.
o Photosensitivity ADDITIONAL TREATMENT Oculoculilneous albinism. Orphanf't Journal af Rare
Diseases 2007; 2:43.
Review of systems should assess easy bruising and Genw11f Musul'fiS
bleeding (Hermansk-PudlaI;) and propensity for Address refractive error with glasses or contact lens Okulk:z JF, Shah RS, Schwartz RA. et aI.
infection (Chedia~-Higashi) Tinted or palychramic lens far photophobia Oculaculilneous albinism. J EurAcad Dermatol
VenerPOI. 2003;17(3):251-256.
PHYSICAL EXAM Treat amblyopia, which can result from strabismus
o External examination lndudlng hair and skin
or anisometropia
o Complete ophthalmic examination indudi ng
High contrast reading matl!rial and large type fonts
Distance law vision aids (usually after first grade)
@; coDES
rmaction, motility, slit lamp examination (iris
transillumination defects), and dilated fundus Suntan lotion (minimum 15 SPF) and other ICD9
examination (hypoplastic fovea, hypopigmented prntl!ctive measures against UV sunIight exposure
270.2 Other disturbances of aromatic amino-acid
retina with highly visible choroidal vasculature) SURGERY/OTHER PROCEDURES metabolism
DIAGNOSTIC TErn a INTERPRETATION Eye musde surgery far strabismus or nystagmus
Diagnostic l'racedures/Other CLINICAL PEARLS
o Prenatal diagnosis possible if gene mutation known
Albinism Is a dlnlcal diagnosis which can be
ONGOING CARE
Oculacutaneous albinism (OCA) is a group of
confirmed in some cases with DNA testing FOLLOW-UP RECOMMENDATIONS heredlta ry diseases marked by absent or decreased
o Optical coherence !!!sting (ocn demonstratl!s Ophthalmologist melanin or melanosome synthesis with in
macular hypoplasia LowYision melanocytes.
Multichannel visual evaked potentials demonstrate P~ mary care doctor or dermatologist for pe~odlc OCA is usually autosomal recessive and affects the
excessive decussation of retinal ganglion cell axons skin exami nations eyes, skin, and hair.
at the chiasm in mast cases Hematology evaluation if Hermansky-Pudla~ or Ocular albinism is an X-linked recessive disorder
Molecular genetic testing may determine the specific Chedia k-H igashi syndrome a concern generally limited to the 1!1f, due to a genetic defect
mutations and thus helps identify the subtype of leading to macromelanosomes.
acu locutaneous albin ism PATIENT EDUCAllON
Visual acuity is usually reduced.
The National Organization for Albinism and
Tests far OCA1, OCA2, and OA1 are available Hypopigmentation (http:llwww.albinism.org)
clinically
o Tests far ather genes only far research purposes PROGNOSIS
Normallilespan, development. intelligence, fertility
PathologiaJI Findings
Macromelanosomes may be seen on skin biopsy in lnaeased risk of skin cancer
OA1, Hermanslcy-PudIak syndrome. and COMPLICATIONS
Chediak-Higashi syndrome. Visual loss
ActinIt keratosis, squamous cell carcinoma, and
basal cell carcinoma in sun-exposed areas
67
AWRGIC CONJUNCTIVITIS
Christine G. Saad
~ BASICS GENERAL PREVENTION

Avoidance of known allergens
PHYSICAL EXAM
SAC/PAC: Mild conjunctival injection and edema.
Papillary reaction, but no giant papillae.
DESCRIPTION PATHOPHYSIOLOGY
Activation of mast cells by antigens results in release VKC: Conjunctival injection, giant papillae,
Allergic conjunctivitis is an allergic inflammation of involvement of upper palpebral conjunctiva. Limbal
the ocular suriace that can be divided into the of chemical mediators (i.e., histamine).
- SAC/PAC: Type I hypersensitivity reaction thickening, limbal nodules, Trantas' dots. Corneal
following categories: seasonal and perennial allergic involvement: punctuate keratopathy, erosions, shield
conjunctivitis (SAC and PAC), vernal - AKCNKC: Type I and IV hypersensitivity reaction
- GPC: Trauma to upper lid ulcer, plaque, pannus.
keratoconjunctivitis (VKC), atopic AKC: Conjunctival injection, atopic dermatitis of lids,
keratoconjunctivitis (AKC), and giant papillary ETIOLOGY papillary hypertrophy. Corneal involvement: pannus.
conjunctivitis (GPC). SAC: Grass and pollen allergens ulcer, scarring. Cataract.
-SAC: Conjunctival inflammation occurring at a PAC: Indoor allergens such as dust mites and animal GPC: Giant papillae, upper palpebral conjunctiva.
specific time of year dander
- PAC: A variant of SAC that occurs throughout the VKC/AKC: Multiple environmental allergens DIAGNOSTIC TESTS It INTERPRETATION
year GPC: Foreign body causing irritation to upper lid Lab
- VKC: Bilateral, chronic inflammatory condition of Not typically necessary
the conjunctiva with possible corneal involvement COMMONLY ASSOCIATED CONDITIONS - Conjunctival scraping
- AKC: Bilateral, chronic inflammatory condition Atopic disease
associated with atopic denmatitis
Conjunctival provocation test
- GPC: Inflammatory condition affecting superior
tarsal conjunctiva ~ DIAGNOSIS Pathological Findings
Eosinophils on conjunctival scraping
EPIDEMIOLOGY HISTORY
Allergic conjunctivitis affects up to 40% of the Itching, burning, irritation, photophobia, tearing, DIFFERENTIAL DIAGNOSIS
population. watery discharge: Viral conjunctivitis. dry eye, blepharitis. contact
Atopic dermatitis affects up to 3% of the population - SAC: Occurs at a specific time to known allergens. dermatitis, toxidchemical conjunctivitis. floppy eyelid
and ocular involvement occurs in 25-40% of these - PAC: Occurs throughout the year but may be syndrome/eyelid imbrication
individuals. worse at specific times.
- VKC: Severe itching. Bilateral. Predi lectian for
RISK FACTORS young males from hot, dry climates
Personal or family history of atopic conditions (Mediterranean, Africa). Seasonal exacerbation.
including eczema, asthma, hay fever, and allergic Affects mast prior to puberty and resolves by late
rhinitis: teens/ear~ twenties.
- Exposure to aeroallergens to which an individual - AKC: Older population. Symptoms may occur year
has a known allergy round and is not associated with hot weather.
- GPC: Use of soft or rigid gas permeable lenses, - GPC: Contact lens use, suture, foreign body.
ocular prosthesis or foreign body
Genetics
Hereditary background of atopic conditions is
common.
68
AliBIGIC COIJUNCIIIITIS I
ADDmONAL TREATMENT PAnENT EDUCATION
. TREATMENT Generalllleesui9S Risks of topical steroid use include glaucoma, cataract
Avoid allergens. Seek cool climate, air-conditioned formation, and pred lsposltlon to Infection.
MEDICATION environment. PROGNOSIS
RrstLine Issues foT Refemll SACJPACJGPC: good prognosis
SAC/PAC: Topical antihistamine-vasoconstrictor eye Corneal involvement Vision threatening disease. VKCJAKC: prognosis can be guarded with corneal
drops (amazollne/naphazollne 0.510.05%: 1 drop involvement.
q.i.d. PRN) Additional Therapies
SACJPAC: Topical antihistamine Oewcabastine Artlfldal tears to soothe the ocular surface. In VKC COMPLICA110N5
O.OS%. emedastine 0.05% q.i.d. OU), mast cell or AKC. artifiCial tears may prevent epithelial Corneal complications (scarring, pannus). Loss of
stabilizer (lodoxamide 0.1% or pemirolast 0.1% breakdown. vision.
q.l.d.), or antihistamine with mast cell stabilizing - Preservative-free artificial tears may be used - Most likely to DCaJr with VKC or AKC
properties (olopatadi ne 0.1 % b.i.d. or 0. 2% per day, frequently (i.e. every 1-2 h).
azelastineepinastine 0.05%, ketotifen 0.025%, or SURGERY/OTHER PROCEDURES
bepotastine 1.5% b.i.d.) VWAKC: Superficial keratectomy may be indicated if
REFERENCES
VKCJAKC: Topical steroid (prednisololll! acetate up corneal plaque develops. Occlusive therapy (i.e., 1. Allansmith M, Ross R. Ocular allergy and mast cell
to 8 times per day) in addition to mast cell stabilizer ta rsormaphy) may be helpful in persistent epithelial stabilizers. Surv O{ilthaJmaJ 1986;30(4):229-244.
or antlhlstamlne with mast cell stabilizing defecVulcer refractory to other measures. 2. Blelory L. FriedIaender M. Allergic con] unct!Yitls.
properties. Topical steroids should be tapered to lmmunol Al/ergyC/in N Am 2008;28(1):43-58
least possible dosing. 3. Bleik J, Tabbara r... Topical cyclosporine in vernal
GPC: in mild cases, modification of lens hygiene and ONGOING CARE keratoconjunctivitis. O{ilthaJmology 1991 ;!NI(t 1):
use may be sufficient Contact lens holiday or FOLLOW-UP RECOMMENDATIONS 1679-1684.
limitation of use. Antihistamine or mast cell vr..c and AKC should be followed dosely for corneal 4. Foster C, Calonge M. Atopic keratocon)unctlvltls.
stabilizer may help with symptoms. Use of enzymatic involvement and risil to vision. Ophrhalmology 1990;97(8):992-1 000.
lens deaners to remove surface debris from contact
lenses Patient Monitoring
Monitor vision. With topical steroid use, monitor
Second Une intraocular pressure and lens changes. . CODES
SAC/PAC: Topical steroid may be used In severe
cases. Oral antihistamines used In systemic disease ICD9
may help with ocular symptoms. 372.05 Acute atopic conjunctivitis
VKCJAKC: Oral steroid or antihistamine in addition 372. 13 Vernal con]unctMtls
to the above measures. Topical cyclosporine A O.e.,
372.14 Other chronic allergic conjunctivitis
restasis or up to 2% compound)
69
Al.PORT SYNDROME
Christopher M. Fecarotta
Type IV collagen is the major structural component of
basement membranes found in the glomerulus.
~ DIAGNOSIS
DESCRIPTION each lea, cornea, and retina. HISTORY
Alport syndrome is a genetic disease characterized Hematuria is the most common presenting
by glomerulonephritis, sensorineural hearing loss, ETIOLOGY symptom.
and ocular changes. Many different mutations involving disruption of - Childhood microscopic hematuria
tertiary and quaternary structure of type IV collagen - Episodes of gross hematuria associated with
Patients often progress to end-stage renal failure
cause Alport syndrome. The most common mutation upper respiratory infections
and high-tone deafness by age 40.
involves a substitution for glycine in the a5(1V) chain of Hearing loss
Common ocular associations include a dot-and-fleck. type IV collagen that results in a misshapen protein.
retinopathy, anterior lenticonus, and posterior Poor vision
polymorphous corneal dystrophy. COMMONLY ASSOCIATED CONDITIONS Family history of juvenile renal failure, hearing loss,
Less common ocular associations include other Hematuria: or vision loss
corneal dystrophies, ulceration, microcornea. arcus. - Most common presenting symptom
PHYSICAL EXAM
iris atrophy, cataracts, spontaneous lens rupture, Proteinuria
Hypertension
spherophakia, a poor macular reflex. fluorescein Nephrotic syndrome
Edema from nephrotic syndrome
angiogram hyperfluorescence, electrooculogram and End-stage renal failure: Evidence of known ophthalmic manifestations
electroretinogram abnormalities. and retinal - Due to chronic glomerulonephritis
pigmentation. -Associated anemia and osteodystrophy DIAGNOSTIC TESTS & INTERPRETATION
EPIDEMIOLOGY Hypertension: Diagnostic Procedures/Other
- Due to chronic renal failure Urine analysis:
Prevalence
High-frequency sensorineural hearing loss: - Microscopic or gross hematuria
1 in 5000 people has one of the forms of AIport
- Begins by late childhood or early adolescence - Dysmorphic RBCs with casts
syndrome.
- Extends to low frequency as the disease - Proteinuria
Alport syndrome accounts for approximately 2.1%
progresses Electrolytes. BUN, creatinine:
of pediatric patients with end-stage renal failure.
Myopia - Reflect level of renal insufficiency
Over 85% of AIport syndrome patients are male.
Posterior polymorphous corneal dystrophy Renal ultrasound:
RISK FACTORS Dot-and-fleck retinal dystrophy: - Rule out other conditions
Genetics - Usually asymptomatic - Normal early in disease course. may show
Alport syndrome is usually X-linked recessive. Anterior lenticonus: progressive atrophy
Less common autosomal recessive and autosomal - Highly suggestive of Alport syndrome once trauma High-frequency audiometry
dominant forms exist. has been excluded Ophthalmologic examination
Patients typically harbor a mutation in one of the Other ocular conditions as mentioned above Renal biopsy
genes for type IV collagen. Diffuse leiomyomatosis of the esophagus and Genetic analysis:
- COL4A5 (most common) trachea - Can diagnose the carrier state as well
-COL4A4 Vulvar and clitoralleiomyomatosis in females
-COL4A3
GENERAL PREVENTION
Genetic counseling
70
ALPIJRI' SYNIIIOME I
Nonspedfic renal histology. Electron miaoKopy, ONGOING CARE . CODES
however, revea Is a charade~stlc thicken lng of the
glomerular basement membrane that Is dlrectly FOLLOW-UP RECOMMENDATIONS ICD9
proportional tD the patient's age and severity of Ophthalmologist 362. 10 Background retinopathy, unspecified
proteinuria. Nephrologist 743.36 Congen ItaI anomalies of lens shape
DIFFERENTlAL DIAGNOSIS Audiologist 759.89 Other specified congenital anomalies
Dot-and-fleck retinopathy must be dlfferentlated Screen family members for mlaoscoplc hematu~a
from other inherited retinopathies, hypertensive PATIENT EDUCATION
changes, d1oroidal infarcts, and vascuIitic changes. The Alport Syndrome Foundation (http://Www. CLINICAL PEARLS
Anterior lenticonus must be differentiated from aIportsyndrome.org)
age-related nuclear sderosis. Anterior lenticonus and posterior polymorphic
PROGNOSIS corneal dystrophy are highly suggestive of AIport
Differential diagnosis of posterior polymorphous 90% of male patients with X-linKed Alpon syndrome syndrome.
corneaI dystrophy Includes Fuchs corneal dystrophy, dew!lop renal failure and are deaf by age 40.
congenital hereditary corneal dystrophy, Patients with an established diagnosis of Alport
Axenfeld-Rieger syndrome, and congen itaI Progression to renal failure and deafness in females syndrome should have regular ophthalmologic
glaumrna. is less Iikely. exams.
Visual impairment is variable. Renal failure and sensorineural hearing loss are the
most common associations.
COMPUCATIONS
. TREATMENT Visual loss Hematu~a Is the most common presenting symptom.
ADDITIONAL TREATMENT Renal failure

Sensorineural hearing loss
General Measures
Address refractive emor with glasses or mrrtact
lenses ADDITIONAL READING
Cataract surgery for visually sign meant lenticular
changes Govan JA. Ocular manifestations of Alport
Complications from poste~or polymorphous corneal syndrome: A heredlt<uy disorder of basement
dystrophy should be managed on an individual membranes. Br J Ophthalmo/ 1983;67:493-503.
basis. Some patients are asymptomatic vmile others Colville DJ, Savige J. Alport syndrome: A review of
require corneal transplantation for severe visual the ocular manifestations. Ophthalmic Ge~
impairment. 1997;18(4):161-173.
Dot-and-fleck retinal changes are asymptomatic and Flinter F. Alport syndrome. JMed Genet 1997;34(4):
do not require treatment. 326-330.
Kidney transplant or dialysis for renal failure Kashtan CE. AIport syndrome and thin glomerular
Hearing aids for sensorineural hearing loss basement membrane disease. 1 Am Soc Nephro/
1998;9(9): 1736-1750.
71
AMAUROSIS FUGAl
Brandon B. Johnson
LovSarin
~ BASICS
Ocular vascular disease: DIAGNOSTIC TESTS & INTERPRETATION
-Anterior ischemic optic neuropathy due to giant Lab
cell arteritis, atherosclerosis, or thrombosis Initial lab tests
DESCRIPTION secondary to acute occlusion or severe narrowing Workup for amaurosis should commence without
Amaurosis fugax is defined as transient monocular of the posterior ciliary arteries leading to acute delay and rule out giant cell arteritis and to evaluate
visual loss secondary to ischemia or vascular optic nerve head ischemia for occult cardiac disease
insufficiency. - Central retinal vein occlusion can begin with - Complete blood count
amaurotic episodes due to slowing of retinal - Erythrocyte sedimentation rate
EPIDEMIOLOGY
arterial circulation as the central retinal vein is -(-reactive protein
Incidence occluded.
50,000 new cases a year in the United States (2)[C] -lipid panel
- Malignant arterial hypertension can cause optic - Diabetes workup
RISK FACTORS nerve head ischemia. - Consider workup for hypercoagulable state: Factor
Hypertension COMMONLY ASSOCIATED CONDITIONS V leiden, lupus anticoagulant, deficiency of
Hypercholesterolemia Carotid occlusive disease protein C/protein Sfantithrombin Ill.
Smoking Valvular heart disease Imaging
Diabetes Initial approach
GENERAL PREVENTION
Lifestyle choices such as diet exercise, and smoking
~ DIAGNOSIS Duplex ultrasound of carotid arteries:
- Identify occlusion, stenosis, and ulceration at
cessation can help mitigate risk. factors. HISTORY carotid bifurcation.
Determine if the visual symptoms are consistent - Consider cerebral CT or MR angiography to
PATHOPHYSIOLOGY evaluate for embolic disease.
with amaurosis.
Transient ischemia to the retina or optic nerve - Fluorescein angiography can document retinal
results in visual field loss for seconds to minutes. Patients describe decreased vision progressing over
seconds and lasting for seconds to minutes. ischemia if results of initial imaging are negative.
- Field loss generally begins in upper field and
- Monocular vision loss generally occurs for seconds - Carotid angiography is indicated when duplex
sometimes in the lower field and periphery.
to minutes and recovers completely. reveals stenosis but not when the study is normal
- Patchy or sectorial field loss may occur. (4)[A].
- Recurrent events tend to follow the same pattern. -Visual loss may occur like a curtain.
- Full visual recovery often occurs. -Upper field affected> lower field>periphery. - Echocardiogram is indicated to identify cardiac
Ask for symptoms concerning giant cell arteritis embolic sources.
ETIOLOGY (in patients over 55). Follow-up a spec:ial considerations
Thromboembolic: - Scalp tenderness
-Transient disruption in the ophthalmic circulation Patient should follow up with their primary care
-Fever physician for a thorough systemic evaluation.
due to atherosclerotic emboli from ipsilateral -Weight loss
common carotid artery and its branches. -Jaw claudication Diagnostic Procedures/Other
- Cardiac embolism may result from valvular disease - Proximal muscle weak.ness Further cardiac work.up should include EKG and
secondary to rheumatic heart disease, mitral valve possible Holter monitor.
prolapse, marantic or infectious endocarditis, and PHYSICAL EXAM
Measure blood pressure, heart rate, and rhythm Pathological Findings
calcific valve disease. Atheromatous carotid plaques are generally composed
Hemodynamic: Auscultation of heart and carotid arteries
of platelet-fibrin thrombi, cholesterol crystals,
- Change in posture, exercise, exposure to bright Palpation of temporal arteries calcification, and lipid deposition.
light in the setting of extensive atherosclerotic Complete ophthalmic exam with dilated fundus
arterial occlusive disease especially involving exam by an ophthalmologist or
aortic arch branches neuro-ophthalmologist
- Hypoperfusion secondary to low cardiac output or -Assess pupillary reactions, and look. for afferent
acute hypovolemia pupillary defect
-Alteration of blood flow from systemic disturbance - Ocular signs of ischemia:
of blood viscosity, cellularity, or coagulability o Retinal pallor
-Vasospasm or retinal arterial system leading to o Hemorrhages
retinal migraine o Distended veins
o Microaneurysms
o Cotton wool spots
o Hollenhorst plaques
72
IIIAUROSIS FUGIX I
DIFFERENTlAL DIAGNOSIS
Embolic: . TREATMENT ONGOING CARE
- carotid bifurcation thromboembolism
- Great vessel or distaI internal carotid artery MEDICATION PROGNOSIS
atheroembolism Annual inddence of stroke in patients with
-cardiac emboli (valve, mural thrombl,lmracardlac Aspirin 300-325 mg/day reduces stroke prevalence amaurosis Is 2% (3).
rumor) and further trc~nsient ischemic attack {TIA) in 95% of endarterectomy patients are free of
- Drug abuse-related intravascular emboli patients with TlA (4)IA]. ipsilateral stroke for 8 years (1 ).
Hemodynamic: - Address modifiable risk. factors such as
COMPUCATIONS
- Extensive atlleromatous occlusive disease hypertension, hypercholesterolemia, and smoking
The rate of stroke and death assodated witll carotid
-Inflammatory arteritis (Takayasu's disease) - Carotid stenosis <50% endarterectomy is 6.5% (4).
- Hypoperfusion (cardiac failure, acute hypovolemia, - Aspirin and risk factor treatment (4)[A]
disturbance of blood viscosity, coagulability, or
-Cardia embolism requires appropriate REFERENCES
content)
management such as antlcoag ulatlon for mural
o Ocular:
tllrombus, aspirin for mitral valve prolapse, etc. 1. Bersteln EF, Dilley RB. Late results following carotid
- Ame~or Ischemic opdc neuropathy - Patients with clinicaI and labo!Citory evidence of endarterectomy for amaurosis fugax. 1 VaseSurg
- Central or btandl retinal artery occlusion giant cell arteritis (elevated ESR/CRP/platelets) 1987;6:333-340.
- Central retinal vein occlusion should be placed on high-dose corticosteroids and
- Nonvasrular (vitreous floaters, hemorrhage, angle 2. Brown RD, Petty GW, O'Fallon WM, et al. lnddence
referred to vasrula r surgery or ocu loplastics for of trc~nsient ischemic attack in Rodlester.
closure glaucoma, tumor, congenital anomalies of temporal artery biopsy. Minn~. 1985-1989.Srrcke
optic disc sud1 as drusen and staphyloma)
ADDITIONAL TREATMENT 1998;29:2109-2113.
Neurologic:
- Bralnstem, vestlbulat oculomotor lesions GeneraiAieasures 3. Ferguson GG. The North American SymptOmatic
- Optic neulitis, optic ni!M!, or chiasm compression o It is of upmost importanee to recogniZI! ocular Carotid Endarterectomy Trial: Surgical results in
- Papilledema vasrular diseases that can present wltll 141 5 patients. Stroke 1999;3 0: t 751-1 758.
- Muldple sclerosis amaurosis. 4. Poole CJM, Ross Russell RW. Mortality and stoke
-Migrc~ine - Arteritic anterior ischemic optic neuropatlly (giant after amaurosis fugax. 1 Neural Neurasurg
- Psythogenic cell arteritis) Psychiatry 1985;48:902-905.
Idiopathic - Glaucoma (espedally angle closure)
Carotid stenosis SQ-70%:
Benavente 0, Eliasziw M, Streifler JY, et al.
-Treatment is controversial. Aspirin and risk factor
Prognosis after transient monocular blindness
treatment Carotid endarterectomy is indicated in
assodated wltll carotid-artery stenosis. NEnfl 1
patients witll associated TIA or minor stroke. Med 2001;345: 1084-1 090.
cerebral Infarction on MR or CT. retinal emboli,
carotid bulb ulceiCI!ion, and failure of aspirin The Amaurosis Fugax Study Group. Current
tllerapy (4)IA]. management of amaurosis fugax. Stroke 1990;
23(2):201-208.
Carotid stenosis > 70%:
- Carotid endarterectomy is indicated (3)[A].
. CODES
ICD9
362.34 Transient retinal artl!ria I occlusion
73
AMBLYOPIA
Kammi B. Gunton
~ BASICS ETIOLOGY
Strabismus, 38% (2)
Contrast sensitivity testing may be useful.
Anisometropia, 37% (2) Electrodiagnostic testing, especially multifocal
DESCRIPTION Combined strabismus and anisometropia, 24% (2) electroretinography, may be useful to detect
Decreased best-corrected visual acuity not solely Organic pathology uncorrected in critical window of underlying organic retinal disease.
attributable to organic pathology affecting one or visual development Visual evoked potentials may be useful in detecting
both eyes: asymmetry or organic deficits.
- Reduction in vision occurs during the first decade Congenital media opacities create most dense form
of amblyopia. In severe amblyopia, asymmetry in the 30-lead visual
of life and is reversible with treatment during this evoked potential may be seen (test rarely needed).
critical window of visual development. COMMONLY ASSOCIATED CONDITIONS
Anisometropia Pathological Findings
EPIDEMIOLOGY Decrease in the cell size of the parvocellular layer
Strabismus
Incidence of lateral geniculate nucleus laminae from amblyopic
It is the leading cause of monocular visual loss in High refractive error
eye
young and middle-aged Americans. Asymmetric or unilateral media opacities or other
forms of visual pathway interruption DIFFERENTIAL DIAGNOSIS
Prevalence Incorrect refractive correction
~ DIAGNOSIS
Affects 2-4% of North American population Organic pathology responsible for visual loss
Projected lifetime risk of visual loss in patients with Failure to comply with patching/penalization results
amblyopia is 1.2% in uncorrected visual deficit.
HISTORY
RISK FACTORS
Anisometropia, odds ratio of 29 (1) -if
- > 1.50 diopter (D) hyperopic spherical equivalent
- >+ 1.00 D cylinder
Presence of anisometropia, strabismus. combined
anisometropia and strabismus, or organic pathology
that reduces vision in one eye:
-Above condition must be present during window
rJ TREATMENT
MEDICATION
- >-f:i.OO Dmyopia of visual development. First Line
Strabismus - Subnormal vision unexplained on the basis of None indicated
High refractive error in both eyes: physical abnormalities in the eye and in the setting
- >+5.00 of the condition known to result in amblyopia. Second Line
- >-10.00 D l-Dopa supplementation during amblyopia treatment
PHYSICAL EXAM under investigation. Improvement of additional 2 lines
- >3.5 D cylinder
At least 2 line difference in visual acuity between with l-Dopa supplementation following standard
Organic pathology uncorrected in critical window in eyes treatment (6). Improvement in the spatial extent of
the first decade
Crowding phenomenon results in reduction in vision visual cortex activation with stimulation of amblyopic
Geneffa when tested by multiple optotypes or crowding bars eye with l-Dopa demonstrated on MRI (7). Proper
Follows the pattern of inheritance for the risk factors around isolated line of optotypes. dosage is critical due to frequent side effects of
May be familial predisposition for amblyopia but no -Grating acuity better than expected in strabismic nausea and emesis.
specific inheritance pattern amblyopia
- low contrast visual acuity better than expected in ADDITIONAL TREATMENT
GENERAL PREVENTION strabismic amblyopia General Measures
Visual screening of all children during the vulnerable Treatment of etiology of amblyopia
age period allows for detection and treatment. Testing with single optotypes may show better
vision than testing with lines of ootypes. Refractive correction
- Pediatrician or family physician well child visits Correction of strabismus
- School nurses Strong fixation preference in preverbal children
Evaluation for strabismus Correction of organic pathology if possible, e.g.
PATHOPHYSIOLOGY Cycloplegic refraction cataract extraction, ptosis repair, corneal transplant
Unequal visual competition between eyes leads to Amblyopia treatment may still be needed after
Complete dilated ocular exam to rule out the
the following: organic deficit corrected.
presence of organic causes of visual loss
-Within the lateral geniculate nucleus, cells from Occlusion of nonamblyopic eye
the amblyopic eye atrophy DIAGNOSTIC TESTS & INTERPRETATION Comparing all-day patching to fewer hours of
-Within the primary visual cortex, cells lose ability Lab patching revealed faster improvement in visual
to respond to stimuli of one or both eyes. None acuity with greater number of hours of daily
Imaging patching, but by 6 months, the differences in
Usually none indicated unless ruling out the improvement were not statistically significant (5).
presence of organic central nervous system cause for Atropine penalization to nonamblyopic eye with
subnormal vision. spectacle correction as applicable: Requires ability
OCT may be useful in detecting subtle organic to blur better eye to a visual acuity less than the
retinal or optic nerve causes of subnormal vision. amblyopic eye. Works best for hyperopic eye.
Improvement in visual acuity 3.6 lines with atropine
compared to 3.7 lines with patching at 6 months in
children younger than 7 with moderate amblyopia
(8)
74
AMBLYOPIA I
Issues for RefetTal PROGNOSIS 5. Pediatric Eye Disease Investigator Group. A
Refer for surgical correction of organic causes (e.g., 82% of padents maintain lnaeased acuity of within compa~son of il'lroplne and patching treatments
cataract) 10 letters after cessation of treatment (1 0). for moderate amblyopia by patient age. cause of
May require collaboration with primary care Patching 2 h daily with spectacle correction amblyopia, depth of amblyopia and other faclllrs.
physician regarding behavioral issues secondary to improves visual acuity 2.2 lines compared to Ophthalmology 2003; 11 0:163 2-163 7.
pillch!ng and patching compUance Issues 1.3 lines with spectade correction alone In children 6. Dadeya S, Vats P, Malik KPS. Levodopa/camidopa
Additional Thel'aple.s 3-7 years of age (4). in the treatment of amblyopia. 1 Pediatr
There is no additional benefit of adding near Improvement in vision of >2 lines is shown with Ophthalmo/ Strabismus 2009;46:87--90.
activities du~ng amblyopia treatment (9). spectade correction alone with follow-up In 77% 7. Yang C, Yang M, Huang J, et al. Functional MRI of
Altl!rnatives to adhesive patch indude patients (3). amblyopia before and after levodopa. Neurosd
spectade-mounted occluder, opaque contact lens. or Improvement in vision continues on average Lett 2003;339:4~2.
Bangerter foils. 30 weeks before stablllzadon (3). 8. Pedlill~c Eye Disease lnvesdgil'lor Group.
Compliance with pillching may require adhesion Improvement correlates with less anisometropia and TwD-year follow-up of a 6-month randomized trial
supplements (e.g., benzoin, Tegademn, tape) or amn better baseline visual acuity (3). of atropine vs patching for treatment of moderate
immobiliza1ion. 46% of patients achieve 20125 or better with amblyopia In children. Arch Ophthalmo/2005;
patChing or atropine (11). 123:149-157.
COMPLEMENTARY ALTERNATIVE Either 20130 in amblyopic eye or 3 log-Mar lines of 9. Pediatric Eye Disease Investigator Group. A
THERAPIES improvement in visual acuity is shown by 6 months randomized trial of near versus distance activities
None with patching or atropl ne In > 74%. while patching for amblyopia in children aged 3 to
No studies prove efficacy of vision therapy. Moderall! amblyopia (vision better than 2011 DO) has 7 years. Ophthalmology 2008; 11 5:2071-2078.
SURGERY/OTHER PROCEDURES better prognosis. 10. Pediatric Eye Disease Investigator Group. Slllbility
Laser refractive correction under lnvest!gadon In Treatment p~or to 7 years of age has better of visual acuity Improvement following
severe anisometropia in noncompliant children. prognosis. discontinuation of amblyopia treatment in
children 7 to 12 years old. Arch Ophtha/mo/
IN-PATIENT CONSIDERATIONS COMPLICATIONS 2007;12S:65HS9.
Admission Criteria Oc.clusion or penalization therapy can uncommonly 11. Pediil'lric Eye Disease Investigator Group. A
In-patient admission has rarely been used to facilitate cause visual loss (usually reversible) in the iniiially randomized trial of atropine versus patching for
occlusion therapy in recaldtrant children. normal eye. Treat by decreasing or discontinuing treatment of moderate amblyopia: Follow-up at
treatment May require switching treatment to other 10 years of age.Ard! Ophthalmo/ 2008;126:
eye. 1039--1044.
$ ONGOING CARE Patches can cause periocular allergic skin rashes.
Consider switching brands.
FOLLOW-UP RECOMMENDATIONS
Patient Monitoring
Patches can cause periocular skin abrasions. Treat . CODES
with micropore tape under patch or ll!mporary
FoUow up to ensure compUance and prevent discontinuation.
occlusion amblyopia. ICD9
Atropine may cause systemit side effects. 36a.00 Amblyopia, unspecified
Chec~ vision of both eyes during each visit
-With full-lime patching. follow-up inll!rval is PsychosodaI repercussions of patthing or 36a.01 Strabismic amblyopia
anisometropia from atropine 36a.03 Refractive amblyopia
I week for every year of age to a maximum of
4weel:s.
-With part-time patching, wider inll!rvals are REFERENCES
acceptable but not > 2-3 months. Younger CLINICAL PEARLS
children require shorter intervals. I. Huynh SC, Wang x:-1, lp J, et al. Prevalence and Screening to dell!ct amblyopia early is of paramount
- Consider treatment end point of fuU correction associations of anisometropic and aniso-
importance.
achieved with the normalization of vision or lack asligmatism in a population based sample of
of Improvement following 3 successive Intervals of 6 year old children. Br1 Of/lthalmo/ 2006;90: Compliance with occlusive treatment is more
compliant treatment. 597~01.
important than the type of occlusion utilized.
Recommend taper of ocdusion fo!!owing maximal 2. Pediatric Eye Disease Investigator Group. The Appropriate refractive correction is vital to all
Improvement In visual acuity (treatment end point). clinical proflle of moderate amblyopia In children treil'lments.
younger than 7 years. Arch Ophtha/mo/ 2002; Treatment of underlying organit etiologies is
PATIENT EDUCATION essential.
Importance of compliance with treatment 120:281-287.
Anticipatory guidanee regarding antidpated 3. Pediatric Eye Disease Investigator Group.
Treatment of anisometropic amblyopia In children
behavioral resistance to patching and strall!gies for
successful patching (e.g., positive reinforcement, with refractive correction. Ophthalmology 2006;
behavioral modtftcadon) 1t 3:895-903.
www.pgda.org
4. Pediatric Eye Disease Investigator Group. A
rcmdom ized trial to evaIuate two hours of daily
patching for amblyopia in children.
Ophthalmology 2006;113:904-912.
75
AMD-DRY
Brad Ballard
Mark L. Nelson
RISKFAOORS
Age is the most important risk factor
Family history
DESCRIPTION HISTORY
Caucasian ancestry
Dry age-related macular degeneration (AM D) is a Many times patients are asymptomatic and are
Smoking is an important modifiable risk factor diagnosed on a routine eye examination.
leading cause of severe vision loss in elderly
Studies have been inconsistent about the role of Symptoms suggest more advanced disease and
populations of European descent. Dry AMD causes
body-mass-index. cardiovascular disease, include metamorphopsia and gradual impairment of
approximately half of permanent vision loss in older
hypertension, HDL, and total cholesterol. vision over months to years.
Caucasian patients in the US.
Very light pigmentation and blue irides may increase AM Dis bilateral but may be asymmetric.
Retinal findings include drusen, pigmentary
risk.
changes, and geographic atrophy. Sudden visual changes or metamorphopsia in
AMD is a degenerative condition which affects the Genetics patients with dry AMD may signify progression to
outer retina. as well as the retinal pigment Population studies with twins and family members exudative AMD.
epithelium (RPE). Bruch's membrane, and the have shown a familial component
Complement Factor H(CFH), complement factor B,
PHYSICAL EXAM
choriocapillaris. Signs of AMD include drusen, RPE changes, incipient
HTRA1 on chr. 1Oq26 all predispose to AMD with
Geriatric Considerations and geographic atrophy, and, in cases of exudative
CFH being most important.
This is a disease that predominantly affects patients AM D, fluid, hard exudates, hemorrhage, and
over the age of 65 years. While non-neovascular AMD GENERAL PREVENTION choroidal neovascular membrane (CNV).
is less likely to cause severe vision loss than AREDS (Age-Related Eye Disease Study) showed Drusen are classified as small (<64 ,.,.m), medium
neovascular macular degeneration, it is still a antioxidant vitamin supplementation can decrease (64-124 ,.,.m), and large (> 124 ,.,.m) or as hard
significant cause of legal blindness in patients over progression of moderate to severe AMD. (discrete well demarcated), soft (poorly demarcated),
65 years old. -Patients with a higher intake of dark. green leafy and confluent (contiguous boundaries).
vegetables and omega3 fatty acids have a lower The RPE shows geographic or non-geographic
EPIDEMIOLOGY risk of developing AM D. atrophy and focal hyperpigmentation.
Incidence - Smoking cessation is critical. Geographic atrophy is described as well demarcated
The 5-year incidence of large drusen or pigmentary areas of RPE loss. Non-geographic atrophy is less
PATHOPHYSIOLOGY
changes average 8.7% (ranging from 3.2% in well defined and has a more mottled appearance.
Degenerative changes involving outer portions of
people less than 60 years. and 18.3% in people in Focal hyperpigmentation occurs at the outer retina.
the retina, RPE, and Bruch's membrane, and less
their 70s).
severely, the choriocapillaris Early AMD is defined as multiple small or
Population studies showed the 5year incidence of intermediate drusen with no evidence of advanced
The earliest signs may be basal deposits in the RPE
advanced AMD to be 1.1% with 0% in ages less AMD.
and between the RPE and Bruch's membrane.
than 60 years, and 5.4% in those older than 80
Drusen develop because of these deposits and Intermediate AMD is defined as extensive
years.
changes in the RPE. intermediate drusen or 1 large drusen.
Progression of disease from drusen and pigmentary
Hard drusen are PAS-positive nodules between the Advanced AM Dis defined as presence of geographic
changes to advanced AM Dincluding neovascular
RPE and Bruch's membrane. atrophy or signs of wet AMD.
AMD increases with age.
Soft drusen are eosinophilic deposits adjacent to DIAGNOSTIC TESTS & INTERPRETATION
Prevalence Bruch's membrane.
Over 8 million people in the US have early AMD of Imaging
Whether photoreceptor atrophy occurs primarily or Initial approach
whom 1 million will develop advanced AMD in the
secondarily to changes in Bruch's membrane and Optical coherence tomography (OCD. color
next 5 years. the RPE, is not known. photographs, and fluorescein angiography (FA) can
Recent evidence cites A2E, a component of be used to document and follow progression of
lipofuscin, as a possible pathologic linlc leading to AMD.
RPE apoptosis FA can show both hyper- and hypofluorescent areas.
ETIOLOGY Hyperfluorescent lesions include RPE atrophy, RPE
The nexus of a high photic and oxygen environment in tears. CNV. pigment epithelial detachments (PED).
highly metabolic tissue, creates a milieu rife for free and subretinal fibrosis. Hypofluorescent lesions are
radical formation and oxidative damage. Pathologic seen with hemorrhage, lipid deposits, and focal
changes and deposits in Bruch's membrane and the hyperpigmentation. Hemorrhage, fluid, and CNV are
RPE lead to structural changes that lead to AM D. hallmarks of exudative (wet) AM D.
Despite the prevalence of AMD, the etiology is not
well understood.
76
AMD-DRY I
FA can be! used when aaJII! visual changes DCCllr to ADDmONAL TREATMENT ADDI110NAL READING
assess for possible progression to exudative AMD. Generalllleesui9S
OCT can show CNV. edema, subretlnal fluid, PED, Laser photocoagu latlon Coleman HR. Chan CC, Fenis FL3rd, e1 a!.
and drusen as well as delineate areas of RPE - Laser photocoagulation has no role in Age-related macular degeneration. Lancet
atrophy. nor.exudative AMD. A controlled trial showed that 2008;372 (9652):1835-1845.
Fundus auiDfluorescence phoiDgraphy shows areas it reduces drusen, but there was no reduction in Mitchell P, Wang JJ, Foran S, Smith W. Five-year
of RPE loss and surrounding damaged RPE. It is an risk for di!VI!Ioprnl!f1t of advanCI!d AMD. Laser inddence of age-related maculopathy lesions: The
evoMng me1hod of Imaging patients whh dry AMD. photocoagulation appears ID inaease risk of CNV. Blue Mountains Eye Study. Ophthalmology
Amsler grid 2002;109:1 092-1097.
Folluw-up I; spetial consideration5
- Patients should be given a copy of an Amsler grid Donaldson MJ, et. al. Treatment of nonexudative
Risk of progression to wet AM Dcan be calculated
and should dJeck the vision in one eye at a time (dry) age-related macular degeneration. Curr O(in
using the AREDS simplified severity score. The score
is calOJ lated for each eye on a regular basis ID detect any subtle disiDrticns OphthaJmoJ 2006;17(3): 267-274.
- Large Drusen - 1 point or blurriness. They should seek ophthalmologic Age-Related Eye Disease Study Research Group.
- Pigment abnormalities - 1 point care If changes develop. AREDS report 8. Ardl 0/ilthalmol
- Bilall!ral intermediate drusen- 1 paint 2001;119:1417-1436.
Issues for Refwnll
- Adva need AMD in one e>fe - 2 points Patierrts with drusen, RPE changes. and/or geographic Ferris FL. Davis MD, Clemons TE, et al. Age-Related
0 factors - 1.5%, 1 factor - 3%, 2 factors - 12%, atrophy should have routine dilated examinations. Eye Disease Study (ARE OS) Research Group. A
3 factors- 25%, 4 factors- SO% simplified si!VI!rity scale for age-tl!lated marular
degeneration: AREDS Report No. 18. ArdJ
DIFFERENnAL DIAGNOSIS $ ONGOING CARE OphthaJmoJ 2005;123(11):1570-1574.
Central serous dJorioretinopathy, pattern dystrophy of
the RPE, Best's disease, idiopathic juxtafaveal FOLLOW-UP RECOMMENDATIONS
telangiectasia, and central areolar dystrophy Pat!errts should use their Amsler grid frequently and . CODES
return for routine care based on AREDS risk.
Development of distortion or central blur should lead ICD9
TREATMENT ID prompt evaluation.
362.51 Nonexudative senile marular degeneration
MEDICATION DIET of retina
RmLine Patients are encouraged to eat a healthy diet low In 362.57 Drusen (degenerative) of retina
The AREDS study showed vitamins can slow saturated fats. as reducing cardiovascular risk 362.89 Other retinal disorders
progression of disease. The AREDS formulation Is dally factors may help reduce progression of AMD.
administration of 500 mg Vitamin C, 400 IU VItamin - Foods high in omega 3 fatty acids. as well as da~
E.. 15 mg beta carotene, 80 mg zinc oxide, and 2 mg green leafy vegetables may reduce the ris~ of CLINICAL PEARLS
cupric oxide (to pll!lll!nt zinc induced anemia). AMD.
AMD is the most common cause of legal blindness
ALERT PROGNOSIS in elderly Caucasian indMduals. It affects nearly
Many patients with early AMD will maintain visual 8 million people In the US.
Use of beta carotene is not recommended in
acuity for many years.
smokers or Iung cancer survivors as it may ltls a degenerative condition lnvoMng the RPE.
Some patil!rrts will progress as they get older ID Bruch's membrane. and the outer retina.
increase risk. of lung cancer.
more advanced forms of AM Das part of the natural
AREDS showed that patients w1th Intermediate or history of the disease. It is diagnosed by dinicaI examination showing
advanced AMD benefited from vitamin drusen, pigmentary changes. and exudative markers
The AREDS sl mpllfled severity smre can be used ID in the retinaBruch's membrane-dloriocapillaris
supplementation. There is no data ID support a calculate risk of progression to advanced AM D.
benefidal effect of vitamins in those with no or complex.
earlyAMD. Amsler grid testing, vitamin supplementation,
Reductions In modtflable risk factors are modification of diet, and reduction in smoking are
encouraged, espedally smoking cessation. the only therapies ID date ID show consistent
benefrt.
Reducing BMI and controlling cholesterol and
cardiovascular ris~ factars may help reduce the There is much research in the area of laser,
mlcronutrlents. neuromphlc factors. stem cells,
progression of AM D.
modHiable environmental factors, genetics. and
other modalities to help pll!lll!nt progression of
Second Une AMD.
Lutein, zeaxanthin, and long dJain unsaturated fatty
acids are rurrently being investigated in the AREDS 2
study.
77
AMPPE [ACUTE MULTIFOCAL PlACOID PIGMENT EPITHELIOPATHY]
Marc J. Spirn
~ BASICS COMMONLY ASSOCIATED CONDITIONS

Uveitis
Imaging
Retinal vasculitis Fluorescein angiogram shows early hypofluorescence
DESCRIPTION Episcleritis with late hyperfluorescence.
Acquired multifocal inflammatory disorder affecting Erythema nodosum
the retinal pigment epithelium (RPE) and choroid DIFFERENTIAL DIAGNOSIS
Cerebral vasculitis Serpiginous choroiditis
Frequently bilateral yellowish-white plaques, often
Relentless/Ampiginous chorioretinitis
~ DIAGNOSIS
in various stages of resolution
Ocular toxoplasmosis
EPIDEMIOLOGY Sarcoidosis
Incidence HISTORY Ocular lymphoma
Unknown but rare Painless vision loss
Harada disease
RISK FACTORS Viral prodrome occurs in one-third of patients
Genetics PHYSICAL EXAM
HLA-87 and HLA-DR2 have been reported with Funduscopic examination reveals yellowish-white . TREATMENT
increased frequency placoid lesions in the macula MEDICATION
- lesions are typically multiple, bilateral, and in lesions typically resolve without medical treatment
PATHOPHYSIOLOGY
various stages of resolution (resolution is denoted If lesions affect the fovea and vision is poor, it is
Believed to result from choroidal vascular obstruction
by RPE hyperplasia) reasonable (but unproven) to consider a short
ETIOLOGY - lesions reside at the level of the RPE and choroid course of oral steroids
Etiology is un k.nown but a viral prodrome occurs in
one-third of patients ADDITIONAL TREATMENT
Issues for Refe"al
Suspected AMPPE should be referred to a retinal
specialist to aid in diagnosis and care
Mental status changes should prompt an immediate
referral to a neurologist to rule out cerebral vasculitis
78
AIIPPE (IEUTE MII.TIFDCAI. PIACOII PIGMENT EI'ITIIELIOPATHY) I
ADDITIONAL READING ~ CODES
ONGOING CARE Gass JDM. Acute posterior multifocal placoid ~
FOU.OW-UP RECOMMENDA110NS pigment epitheliopathy. Aich Ophthalmo/ ICD9
Sporrtaneous resolution is the rule. 1966;80:177-185. 363.15 Disseminated retinitis and retinochoroiditis,
Recurrence is possible but is mre. When multiple Heath JD. Acute poste~or multlfooll placold pigment eplthellopathy
reanrences occur, a different diagnosis should be pigment eplthellopathy. lnr Ophrhalmol Clln
considered. 1995;35(2):93-1 OS.
Patient Monitoring O'Halloran HS. Berger JR. Lee WB. et al. Acute CLINICAL PEARLS
Cerebral YaSOJiitis is a rare associated finding. Merrtal multifucal placoid pigment epithel iopathy and
central nervous system involvement: Nine new cases AMPPE is a self-limited inflammatory disease of the
status changes should prompt an immediate refl!rral RPE and choroid
to a neurologist and a review of the literature. Ophrhalmology
2001 ;1 08(5):861~. Rarely AM PP Emay be associated with
PROGNOSIS life-threatening complications such as cerebral
Spontaneous recovery within 3-4 weeks is the norm. vasculitis
In rare instances. RPE changes in the macula can Patients often recover sign lftca nt visual acuity unless
cause chronic vision lass. there are signif~eant RPE changes in the fovea
79
ANGIOID STREAKS
Mark L. Nelson
Matthew R. Debiec
~ BASICS
GENERAL PREVENTION A choroidal neovascular membrane may develop at
There are no treatments known to prevent angioid sites of angioid streaks and full thickness breaks in
streaks in patients who may be at risk; some reports Bruch's membrane.
DESCRIPTION indicated increased complications following Over two-thirds of patients with angioid streaks
Irregular crack-like dehiscences in Bruch's membrane prophylactic laser therapy. develop CNV at some point; however, this rate
that can be associated with multiple systemic Patients are susceptible to choroidal rupture varies greatly depending on the clinical condition.
conditions. Significant sequelae include subretinal following mild trauma and should be educated to While patients with PXE have the relative highest
hemormage, choroidal rupture, and possible choroidal wear protective eyewear. probability of macular CNV, patients with sickle-cell
neovascularization (CNV). anemia tend to have a substantially lower rate of
PATHOPHYSIOLOGY
EPIDEMIOLOGY CNV.
The crack-like dehiscences are produced by
lnddence alterations in Bruch's membrane, making it more DIAGNOSTIC TESTS & INTERPRETATION
Incidence of angioid streaks is based on the prone to cracks. Full thickness breaks may allow Lab
underlying condition. Pseudoxanthoma elasticum CNV membranes to form. laboratory work-up tends to center around
(PXE), the most common underlying condition, has Subretinal hemorrhages can develop regardless of evaluating for systemic conditions in those patients
an incidence of 1 in 160,000. the presence of a CNV. Subretinal hemorrhage can that do not have a predisposing diagnosis.
-Typically develops between the second and fifth follow traumatic breaks in Bruch's membrane and A focused medical work up may include: Skin
decade of life. can disseminate toward the macula. biopsy, x-ray imaging, hemoglobin electrophoresis,
Prevalence ETIOLOGY genetic testing, or blood work.
Variable based on the underlying condition. Underlying genetic predisposition of the Imaging
Approximately one-third to half of cases have been aforementioned conditions combined with possible Initial approach
reported to occur in patients with PXE. Of patients unknown environmental or acquired risk factors lead Fluorescein angiography (FA) is not necessary for
with PXE, more than 80% tend to have angioid to angioid streaks. diagnosis. but is extremely helpful in establishing
streaks. Approximately 15% of patients with Paget's the diagnosis in early streaks adjacent to the optic
disease of bone and anywhere from 1-20% of COMMONLY ASSOCIATED CONDITIONS
disc and in evaluating the development of CNV.
patients with sickle-cell disease develop angioid See risk factors above.
-Angioid streaks will appear hyperfluorescent
streaks.
~ DIAGNOSIS
(window defect) in the early phase of FA.
RISK FACTORS - CNV shows early hyperfluorescenc.e and late
The most common diseases related to angioid staining.
streaks are pseudoxanthoma elasticum, Paget's HISTORY lndocyanine Green (ICG) angiography may be
disease of bone, sickle-cell anemia, and Angioid streaks are typically asymptomatic although employed when both funduscopy and FA are
Ehlers-Danlos. they can present with metamorphopsia and decreased equivocal, for example, in cases of extensive
vision. hemorrhages or severe RPE lesions. ICG
Other diseases include:
-Acquired hemochromatosis PHYSICAL EXAM angiography may show hypeliluorescent lines with
-Acromegaly Diagnosis is typically based on the characteristic pinpoints over their length.
- Diabetes mellitus funduscopic appearance, although imaging such as Follow-up a special considerations
-Acquired hemolytic anemia FA or ICG aid in diagnosis. Patients with angioid streaks may require on-going
- Hereditary spherocytosis Angioid streaks appear on exam as narrow jagged follow up with FA to assess for development of CNV.
-Myopia lines, deep to the retina, that radiate out from areas Pathological Findings
- Neurofibromatosis of peripapillary pigment alterations. Characteristic findings include irregular crack-like
- Sturge-Weber syndrome The streaks are almost always bilateral and usually dehisc.ences in Bruch's membrane with atrophic
- Hyperphosphatemia occur in the posterior pole. Width ranges from degeneration of the overlying RPE.
- Senile elastosis so-soo ttm. The color of the streaks varies and may
-Tuberous sclerosis range from dark red to brown.
- Some patients have no identifiable systemic Eyes of patients with PXE may demonstrate peau
disease that can be attributed to angioid streaks d'orange, which is diffused mottling of the retinal
and are considered to develop them idiopathically. pigmented epithelium (RPE) typically found temporal
Geneffa to the macula. These patients may also develop
Varies based on the underlying condition causing yellowish spots described as salmon spots at the
angioid streaks. level of the RPE.
- Pseudoxanthoma elasticum, the most common
associated condition, is due to an autosomal
recessive or dominant mutation in the ABCC6
transporter gene.
80
AIGIIIID SIIIEAKS I
Ey!!.s with angioid streaks haW! shown I!XIensivl! Pho!Dclynamic therapy (PDT} with verteporfin may be ADDI110NAL READING
caldflcatlon and ttllckenlng of Bruch's membrane considered for eyes with subfoveal CNV. 1hIs therapy
Ylittl PXE and Paget's disease of bone, although ttlls has been attempted In some small retrospective and Clarkson J, Altman R. Angioid sb'ea ks. Surv
is not always found in other associated conditions. prospective studies atthough benefit is limited to a Ophtha/moJ 1982; 26(5): 235-246.
Bruch's membrane in Sickle hemoglobinopathies short period and it is often associated with Sawa M, Gomi F, Tsujikawa M, et al. Long-term
has demonstlllted iron deposition in addition to recurrence or subsequent chorioretinal atrophy. results of intravitreal bevadzumab injection for
caldfication. SeveraI studies show contradictory results and many choroidaI neovascularization secondary to angioid
The elastic IamIna In the mlddle of Bruch's consider It as a method to slow, but not prevent ltle streaks. Am J Ophtha/moi200g; 148{4): 584-590.
membrane is often affected with disintegration and natural course of CNV in angioid streaks. Lim J, Bressler N, MaBh M, et al. Laser treatment of
fraying of the elastic fibers. SURGERY/OTHER PROCEDURES choroidaI neovascularization in patients with angioid
Macular translocation and submacular surgery has streaks. Am J Ophthalmo/1993; 116: 4t 4-423.
Age-related macular degeneration been previously attempted in rare cases of angioid Georgalas I, Papaconstantinou D, Koutsandrea C,
streaks with variable success. et al. Angioid streaks, clinical course. complications.
Patholog lc myopia
and current ttlerapeutlc management. Ther C/ln Risk
Hlstoplasmosls Manag 2009; 5(1): 81-39.
Toxoplasmosis $ ONGOING CARE Gurwocd A. Mastrangelo D. Understanding angioid
Retinal vaswlitis strea Its. JAm OptometricAssoc 1997; 68(5):
ChoroidaI rupture FOLLOW-UP RECOMMENDATIONS
309-324.
Patients with angioid streaks should have
exam lnatlons at least every 6 months ID assess for
. TREATMENT the development of CNV given its relatively high
inddfnce. This follow-up may includf FA to assess t f ; coDES
MEDICATION for CNV.
FltstLine Development ofsym ptoms should prompt ICD9
More recently, off-label use of anti-vasrular increased frequency of evaluation to at least every 363.43 Angioid streaks of choroid
endothelial growth factor therapy such as 3 months.
pegaptan lb, ranlblzumab, and bevaclzu mab has - Patients that have recently been treated with laser CLINICAL PEARLS
been used to treat CNV. andlor anti-VEGFtherapy should be evaluated
-Short-term studies have shown favorable results. regularly. Angioid streaks may be a sign of an unde~ylng
- One study examining results of bevacizumab up ID Patients can be instructed in the use of Amsler grid disease such as pseudoxanthoma elasticum,
24 months after initiation of therapy found testing for home men ltorlng. Ehlers-Danlos syndrome, sickle-cell
recurrence of CNV In up to one-ttllrd of patients hemoglobinopathy, or Paget's disease of bone. It
PATIENT EDUCAnON
and new CNV lesions In 20% of patients. may also be idiopathic.
Patierrts should be educated about the importance of
Risk of intravitreal injections in these eyes is not fully protective eyewear as the chance of choroidal rupture Angioid streaks rna Ice the eye susceptible to severe
known. or subretinal hemormage is high with even minor subretinal hemorrhages from even minor blunt
ADDITlONAL TREATMENT trauma. trauma, so patients should wear eye protection at
all time.
General Measures PROGNOSIS Choroidal neovascularization may develop in the
Laser photocoagulation to CNV lesions In patients Visual prognosis of eyes with angioid streaks is poo~ areas of angioid streaks; patients need to
Ylith anglold streaks has modest results. Argon or although this varies based on the underlying self-fllonltor their vision and have regular fundus
Krypton laser phatotoi!guIation is typically diagnosis. time of onset of symptoms, and response ID exams.
considered in eyes with extrafDVI!aI or juxll!loveal various types of therapy. It appears that in the nalllral
CNV. Findings typically show modenatevisualloss in history of untreated eyes, most end up wlltl visual
eyes treated with laser photocoagulation and acu fly of 20/200 or worse. At present, therapy ~
greater ltlan SO% rate of persistence and/or directed toward slowing the rate of visual loss and
recurrence. However, eyes with angioid streaks that CNV progression.
are untreated and allowed to naturally progress
haW! a very high rate of poor visual outmm e, often COMPUCA110NS
with visual acuities of 20/200 or WO!lie. Patlerrts with angioid streaks and Pseudoxanthoma
- Proph)iactlc therapy of angioid streaks may Elastlcum are at lnaeased ~sk. for cardiovascular
actually Induce more rapid progression to disease and spontaneous gastrointestinal bleeding.
development of CNV.
81
ANISOCORIA IN CHILDREN
William 0. Young
~ BASICS ETIOLOGY
Physiologididiopathic (most common) ~ DIAGNOSIS
Congenital Horner syndrome:
DESCRIPTION - Birth trauma including brachial plexus injury HISTORY
Round pupi Is that differ in size by 0.5 mm or more - Neoplasm rare Trauma:
- Nonocular:
EPIDEMIOLOGY Acquired Horner syndrome
o Birth trauma
Prevalence ALERT o Surgical (neck or chest) or other postnatal
15--30% (physiologic) trauma
Can represent metastatic neuroblastoma:
Other causes rare - Ocular blunt trauma
Congenital third cranial nerve palsy
RISK FACTORS - Intraocular surgery
Acquired third cranial nerve palsy:
Physiologic: None Age of onset:
-Trauma (most common) -surgical or nonsurgical
- Review old photos
Trauma Oncluding intraocular or brain surgery) - Meningitis
Duration
Iritis -Tumor
Meningitis -Aneurysm: Ptosis:
-Homer syndrome (1-2 mm or less)
Topical contact with mydriatic or miotic (drop, o Unlikely under age 14
-Third cranial nerve palsy
ointment or plant) Traumatic mydriasis (sphincter tears)
Anhidrosis/hypohidrosis:
Paraspinal neuroblastoma Posterior synechiae due to iritis - Seen in some but not all cases of Homer syndrome
Birth trauma Adie's tonic pupil: Contralateral facial flushing and ipsilateral
Family history of anterior segment dysgenesis - Much less common in children than in young hypohidrosis (Harlequin sign):
Genetics women - Seen in some but not all cases of Homer syndrome
Physiologic not genetic: - Usually idiopathic in infants
-Anterior segment dysgenesis may be due to a Pharmacologic mydriasis: longstanding iris heterochromia in congenital
genetic disorder. - Usually cycloplegic (pharmaceutical or Homer and some anterior segment dysgenesis
GENERAL PREVENTION environmental) PHYSICAL EXAM
Physiologic: None Congenital miosis Acuity
Genetic counseling for anterior segment dysgeneses Aniridia and other anterior segment dysgenesis Normal in physiologic anisocoria
Avoidance of contact with mydriatics and miotics May be decreased due to amblyopia in third nerve
Careful follow-up screening for patients at risk for COMMONLY ASSOCIATED CONDITIONS palsy and Adie's
iritis (e.g., juvenile idiopathic arthritis) to detect None in physiologic anisocoria Accommodative amplitudesldynamic retinoscopy:
inflammation early Neoplasm in 23% of pediatric Horner syndrome (1) - May be decreased in third cranial nerve palsy and
Adie's tonic pupil)
PATHOPHYSIOLOGY ALERT
Maldevelopment or dysfunction of the pupillary Pupils:
Note especially neuroblastoma metastatic to -Anisocoria greater in darkness (smaller pupil is
dilator or sphincter muscle or cervical sympathetic chain, which can be life abnormal):
Mechanical impairment of the pupil (e.g., posterior threatening and requires urgent workup. o Physiologic anisocoria
synechia) or
o Horner syndrome
Idiopathic (physiologic) Other neoplasms causing Horner syndrome in o Mechanical restriction
children include benign paraspinal neuroblastoma, -Anisocoria greater in light (larger pupil is
rhabdomyosarcoma (2), Ewing sarcoma, and abnormal):
juvenile xanthogranuloma (1). o Third cranial nerve palsy
Abnormalities of extraocular muscle function and o Adie's pupil
strabismus in third cranial palsy o Traumatic mydriasis
o Pharmacologic mydriasis
-Dilation lag of smaller pupil:
o Horner syndrome
-light-near dissociation:
o Adie's tonic pupil
- Segmental constriction:
o Adie's tonic pupil
- Relative difference in pupil size preserved in dim
and bright illumination: Physiologic anisocoria
- Iris heterochromia (lighter iris ipsilateral to smaller
pupil):
o Congenital Horner syndrome
82
ANISOCORIA IN CHILDREN I
Eyelids: REFERENCES
- 1-2 mm (but not more) of upper eyelid ptosis In . TREATMENT
Horner syndrome, ipsilateral to the smaller pupil 1. Mahoney NR, Liu GT, Menacker SJ, et al. ~'~!!~iatric
-More profound ptosis in third nerve palsy, MEDICAnON Horner syndrome: Etiologies and roles of imaging
ipsilateral to the Iarger pupil For Adle's tonic pupil: Pilocarpine 0.125% and urine studies to detect neuroblastoma and
- "Inverse ptDSis (slight elevadon of the lower lid b.i.d.-ij.i.d. can be used for cosmesis and to aid other responsible mass lesions. Am J Ophrha/mo/
of the eye with the small pupil) with Homer accommodation. 2006;142(4}:651 ~59.
syndrome) For posterior synechiae due to I~tis: Pharmacologic 2. Jeffery AR, Ellis FJ, Repka MX, et al. Pediatric
Motility: mydriasis (such as atropine 1% drops) to break the Horner syndrome. JAAPOS 1998; 2(3):159-167.
- Normal with all causes of anisocoria except third synedliae, in addition to topical steroid treatment 3. Smith SJ, Diehl N,l.eavitt JA, et al. Incidence of
nerve palsy (with systemic medication as indicated) for the iritis. pediatric Horner syndrome and neuroblastoma
-Limitation of elevation, depression, and adduction Anisoco(lil due to other causes is not treated; threat. Ard! Ophlha/mo/ 201 0;128(3):324-329.
In third nerve palsy: instead, an underlying cal!Se is identified and 4. Chen PL. Hsiao CH. Chen JT. et al. Efficacy of
o The palsied eye is typically down and out" treatable. apraclonidine 0. 5% in the diagnosis of Horner
(exotropic and hypotropic) syndrome in pediatric patients under low or high
Palpate abdomen and supraclavicular region looking ADDITIONAL TREATMENT Illumlnatlon. Am 1 Ophrha/mo/2006;142(3):
for neuroblastoma or other neoplasm GeneraiAieasures 469-474.
Amblyopia (most llla!ly with third neNe palsy and
DIAGNOSnC TESTS & INTERPRETATION Adie's) is treated with refractive correction if
U.b needed, and patching or atropine penalization. ADDITIONAL READING
If suspect Hornet with no dear evidence of birth Cosmetic contact lens is used if con cems about
injury: Spot urine for wn illylmandelic add (VMA) appearance In older children. Kardon RH, Thompson HS. Congenital and acquired
and homDYanllllc acid (HVA) anisocoria in children. In: Cibis GW, Tongue AC,
Issues for Refem~l Stass-lsern MI., eds. De<:ision Making in Pediatric
Note: Urine testing may not be as sensitive as Patients discovered to have evidence of a neoplasm
imaging (1)[C) in diagnosing neuroblastoma Ophthalmology. St. Louis, MO: Mosby-Year Book,
should be referred without delay to approp~ate 1993:26-27.
lmagirlfl spedalists (oncology, neurosurgery). Wright TM, Freedman SF. Exposure to topical
MRI (with and without gadolinium) of the brain, Patients below 12 months of age with Adie's tonic apradonldlne In children with glaucoma.
neck, chest. and upper abdomen if suspect Homer pupil should be referred to pediatric neurology to 1 GlauCDITia 2009;18(5):395-398.
syndrome unless clear evidence of birth trauma rule out familial dysautonomia.
(1)[C]:
-Some recent evidence (3)[C) questions the need
for extensive evaluation of patients with Homer ONGOING CARE . CODES
syndrome.
FOLLOW-UP RECOMMENDAnONS ICD9
MRl of brain with MRA if suspect third craniaI palsy
and no clear etiology Physiologic: None needed 364.71 Posterior synechiae of iris
Third nerve palsy and Adie's: Follow-up to rule out 379.4 t Anisocoria
Diagnostic l'raCIIilduru!Other amblyopia 743.46 Other specified congenital anomalies of l~s
Review old photographs to help determine whether Possible Horner syndrome with equivocal clinical and dliary body
anisocoria is cnngenital or acquired and/or pharmacologic findings: Re-examine in 3-6
Pharmacologic testing for Homer syndrome: months, consider repeat urine testing
- Cocaine 5% drops dilate the normal pupil but not Follow~p for glaucoma in anterior segment CLINICAL PEARLS
the Horner pupiI. dysgeneses
- Apraclonidine 0.5% produces reversal of Determining whether the anisocoria Is greater In
anisocoria in 30-60 min in Homer syndrome. Follow~p for other causes of anisocoria is darlcness or in light is the key first step in
determIned by the unde~ylng cause. determining the cause of anisocoria.
o Effect easier to see in bright than in dim light
(4)[C) PAnENT EDUCAllON "Inverse ptosis (slight elevation of the lower eyelid)
- Hydroxyamphetamlne 1% dilates preganglionic Reassure parent that an isocoria itself does not affe<:t and dilation lag are subtle but spedflc clinicaI signs
but not postganglionic Horner pupil. acuity or visual development (except ~ of Horner syndrome.
Pharmacologic testing for Adie's tonic pupil: accommodation impaired in Aides or third cranial Ilis heterochromia suggests that Homer syndrome is
Pilocarpine D. 125% constricts Adie's pupil but not a palsy). longstanding and usually congen itaI.
normal pupiI or a pharmacologically dilated pupil. ~ Homer syndrome Is suspected but not proven, Old photos can help establish that an isocnria is
instruct the parent to watch for development of congenital, and thus less worrisome.
ptosis and anhidrosis.
ALERT
PROGNOSIS Acquired Horner syndrome is the cause of
Physiologic anisocoria: EKCellent. No defidt is anisocoria that must not be missed, because of its
expected. assodation with metastatic neuroblaslllma.
Other causes: Prognosis depends on underlying Workup for neuroblaslllma should be considered
cause. for all cases of acquired Horner syndrome, as well
as for congenital cases without a clear underlying
cal!Se such as birth trauma.
83
ANISOMETROPIA
Kammi B. Gunton

Detection at earlier age and treatment of
anisometropia can prevent amblyopia.
Lab
None
DESCRIPTION Screening
Difference in refractive correction between the two Imaging
Photoscreening: Usually none required unless ruling out other organic
eyes. More amblyogenic if difference is - Noncycloplegic autorefraction
- > 1.50 diopters (D) hyperopic spherical equivalent causes of subnormal vision. May be indicated if depth
-Visual acuity testing by primary care physicians of amblyopia is not proportionate to degree of
- +1.00 Dcylinder and school nurses
- >-ii.OO Dmyopia anisometropia.
- 14% one year olds with anisometropia had
Most common cause of amblyopia amblyopia, 40% at 2 years old, 65% at 3 years Diagnostic Procedures/Other
Two types: Spherical equivalent anisometropia and old, 76% at 5 years old (1). Function MRI demonstrates suppressed calcarine
astigmatic anisometropia cortex activation at high spatial frequency and
PATHOPHYSIOLOGY decreased activation of lateral geniculate nucleus,
EPIDEMIOLOGY Amblyopia results from unequal competitive input to visual cortex from anisometropic amblyopic eye (2).
lnddence visual cortex resulting in a failure of development of
the neuronal connections and occipital receptor cells Pathological Findings
25-iiO% of patients with anisometropia develop
for vision in the non-preferred eye. Ocular dominance width size in visual cortex is normal
amblyopia (1).
in anisometropia, but binocular driven cells may be
Change in anisometropia with age occurs in > 15% ETIOLOGY reduced (1).
children, yet >3D anisometropia more likely to Unknown
persist (1 ). DIFFERENTIAL DIAGNOSIS
COMMONLY ASSOCIATED CONDITIONS Ocular or cortical pathology is responsible for
Prevalence Prematurity:
1-11% of population (1) reduced vision.
- retinopathy of prematurity Anisometropia may be caused by asymmetric axial
RISK FACTORS Congenital ptosis length, lenticular refractive power, corneal refractive
Prematurity: Coloboma power, and retinal elevation.
- retinopathy of prematurity
Congenital ptosis
Coloboma
Lenticular opacities
Cataract
Strabismus
Microphthalmia
Glaucoma
rJ TREATMENT
MEDICATION
Congenital glaucoma No pharmacologic treatment indicated
Asymmetric axial growth or corneal endothelial
damage ~ DIAGNOSIS ADDITIONAL TREATMENT
Family history HISTORY General Measures
Any organic cause of monocular poor vision in Refractive correction with spectacles of
Unequal glasses or contact lens prescription
infancy anisometropia
between eyes
In the presence of amblyopia, monitor vision with
Genetics Unilateral vision deficit or ocular disorder
spectacle correction:
No dear inheritance pattern but risk increases by Unequal eye size
- Follow-up until resolution of amblyopia, or if no
proximity of other affected family members in further improvement, begin amblyopia treatment
PHYSICAL EXAM
pedigree. (3).
Visual acuity
Inheritance pattern of underlying disorder prevails. Full dilated eye examination to rule out other - Improvement in vision continues on average
organic causes of unequal or subnormal vision 30 weeks before stabilization (3).
Cycloplegic refraction of each eye to detect For unresolved amblyopia, occlusion of
interocular difference: nonamblyopic eye:
- Decreased contrast sensitivity in anisometropic - Patching from 2 to 6 h daily or atropine
amblyopia penalization of nonamblyopic eye (4)
- Faster improvement with greater number of hours
of patching, but at 6 months equal efficacy (4)
84
AIISOMEIIIIPIA I
Issues for R.rdarra/ PATIENT EDUCATION 4. Pediatric E}'l! Disease Investigator Group. A
If underlying organic cause (e.g., cataract, corneal Foals on prevention of amblyopia comparison of atropine and patchl ng treatments
disease, ptosis) consider referral for surgical for moderate am blyopla by patient age, cause of
PROGNOSIS
Intervention. amblyopia, depth of amblyopia and other factors.
2 line or greater improvement in visual acuity by
Addltlanal Therapies Ophthalmol2003;t 10:1632-1637.
spectacles alone in 77"/o (3)
For high degrees of an isometropia, contact lens 5. Pediatric Eye Disease Investigator Group. A
Resolution to 20120 with spectades alone in 27%
correction may be preferred both to reduce aniseikonia randomized trial to evaluate two hoors of daily
(3)
and for cosmesis. patch lng for ambt,oopla In children. Ophtha/mo/
Improvement of 1.1 lines with spectacles and 2006;113:904-914.
COMPLEMENTARY a ALTERNAnYE patd'ilng compared to 0.5 lines with spectacles
6. Pediatric Eye Disease Investigator Group. A
TliERAPIES alone at .5 weeks (5)
randomized trial of atropine ver:5US patching lor
None Visual awily improvement to 20130 in amblyopic treatment of moderate amblyopia: Follow-tip at 10
No proven efficacy of vision therapy for eye DCWrred with treatment in > 74% (6) years of age.Atdl OphtfuJimd 2008;126:
anisometropia COMPUCATlONS 1039-1044.
0rthokeratology not recommended Occlusion amblyopia can occur in the treated eye.
SURGERY/OTHER PROCEDURES High degrees of refractive errot espedally if
Laser refractive surgery in children who fail other anisometropic; if corrected by spectacles may have . CODES
means of refractive tDI'rection is currently under adverse psychosodal consequences that male!!
Investigation. wearing glasses a challenge. ICD9
367. 1 Myopia
IN-PATIENT CONSIDERATIONS 367.31 An isometropia
AdmlssiGn Crlterla REFERENCES 368.00 Amblyopia, unspecified
For children extremely recalcitrarrt to amblyopia
therapy, in-patient admission has been rarely used in 1. Donahue S. The relationship between
some centers to facilitate Inltlatlon of treatment anisometropia, patient age, and the development
of amblyopia. Trans Am Ophtha/mol Soc 200 5; CLINICAL PEARLS
103:313-336. Detection of significant anisometropia at earlier age
ONGOING CARE 2. Choi MY, Lfe KM, Hwang JM, et al. Comparison can prevent amblyopia.
between anisometropic and strabismic amblyopia Spectacle correction alone has signilicarrt impact on
FOLlOW-UP RECOMMENDA110N5 using fu nctlonal magnetic resonance Imaglng. Br J
Plltient Monitoring visuaI recovery.
Ophtha/mol 2001 ;85:1052-10 56.
Follow-up at Intervals with refractive tDI'rectlon to Amblyopia treatment is effective.
3. Pediatric Eye Disease Investigator Group. Treatment
monitor improvemerrt of vision in suspected Ongoing follow-up to measure vision and changes
of anisometropic amblyopia in children with
amblyopia urrtil no further improvement Intervals refractive mrrection. O{ilthalmol 2006; 113: in refractive erTor is essential.
for follow-up shortEr for younger children: 89s-903.
- When treating amblyopia, treat with patching or
atropine for intervaIs of 1 week for Mry week of
age, and then chec:X vision of each eye Oncludlng
normal eye for iatrogenic amblyopia).
85
ANOPHTHALMIA
Jing Jin

No consistent systemic associations
Lab
Midline craniofacial anomalies Initial lab tests
DESCRIPTION Developmental delay (often severe) with None if no extraocular findings
Absence of globe. Must be distinguished from chromosomal aberration or other systemic Karyotype/microarray if other congenital anomalies
severe microphthalmia in which globe remnants may syndrom ic findings are present
only be detectable by ultrasound, neuroimaging, or Craniofacial disproportion with enophthalmic Molecular genetic testing for mutations in
tissue biopsy (e.g., exenteration or autopsy). appearance and small palpebral fiSsures and lids syndromes reportedly associated with anophthalmia
With or without systemic disease
Follow-up ll special considerations
EPIDEMIOLOGY
10--19 per 100,000 newborns (1) (2)[C] ~ DIAGNOSIS Must follow orbital and periorbital growth
Follow for developmental delay
RISK FACTORS HISTORY Imaging
Chromosomal aberrations, syndromes, and Family history of congenital ocular disease Initial approach
congenital disorders Known exposure to infection or teratogen in utero MRl and CT show the absence of ocular tissue, optic
Intrauterine factors: Other known associated anomalies or nerve, and extraocular muscles.
- Prenatal exposure to teratogenic factors including developmental delay Follow-up ll special considerations
radiation, alcohol, thalidomide, retinoic acid PHYSICAL EXAM Serial CT scan may assist in evaluating bony growth.
(l)[C], hydantoin, and lysergic add diethylamide
The condition may affect one or both eyes. Pathological Findings
(LSD) -Reduced orbital volume with enophthalmic Absence of ocular tissue in orbit
Genetics appearance
There is no !mown gene defect specific for true - Eyelids may appear normal, small, or partially DIFFERENTIAL DIAGNOSIS
anophthalmia. fused. Lashes, tarsal glands and lacrimal gland Severe microphthalmia
and drainage system are usually present. Cystic eye
GENERAL PREVENTION
Systemic examination for other anomalies, especially Acquired anophthalmia following trauma or surgery
Prenatal ultrasound (4)[C]
brain anomalies Phthisis (e.g., following infection or trauma)
Avoidance of in utero exposures to infection or
teratogen Complete eye examination of both parents looking Cydopia/synophthalmia
for coloboma- if present suggests that the child has
PATHOPHYSIOLOGY severe microphthalmia rather than true
Complete failure in the development of the primary anophthalmia
optic vesicle during embryogenesis
ETIOLOGY
Genetic
Prenatal exposure to infection or teratogen
Idiopathic
86
AIIDPHniAI.MIA I
PATIENT EDUCATION ADDITIONAL READING
. TREATMENT Genetic cou nsellng
Blindness lntervendons http://www.ncbi.nlm.nih.gov.proxy1.1ib.tju.edu:
MEDICATION International Children's AnophthaImia and 2048/bookshelflbr.fcgi?book=gene&part=
None Microphti1almia Network (http:J.WWW. anophti1almiaov
anophthalmia.org) Stoll C, Alembik Y, Dott B, Roti1 MP. Congenital eye
ADDITIONAL TREATMENT malformations in 212,479 conserutive births. Ann
General Measures PROGNOSIS Genet 1997;.W(2):122-128.
Safety glasses to protect the good eye in unilatelill Depends on associated systemic anomalies fl)'l1s JP, Legius E, Moerman P, et al. Apparently
cases new anophthalmiaplus syndrome in sibs. Am J
Sclelill shell to enmurage periorbital tissue growth REFERENCES Med Genet 1995:58:113-114.
Issues for Rmtral West B, Hove KE, Slavotinek AM. Two novel STRA6
Genetic mnsultation 1. Dolk H, Busby A. Armstrong BG, et al. mutadons In a patient w1th anophthalmia and
SpedaI education and referral to services for ti1e Geographical variation in anophti1almia and dlaphragmadc eventradon. Am 1 Med Genet A
blind microphthalmia in England, 1988-1994. BrMed1 2009;149A(3):539-542.
1998;317:905--909.
SURGERY/OTHER PROCEDURES 2. Yoan PW. Rasmussen SA, Lynberg MC, et al. The
Placement of serial en larglng orbital expanders, National Birth Defects Prevention Study. Public
dermal fat glilfdng, or Intraorbital balloons In severe . CODES
Health Rep 2001 ;116(Suppl1):32-40.
cases(5)[C] 3. Lamer EJ, Chen DT, Hoar RM, et al. Retinoic add ICD9
ern bryopathy. N Efl!i 1 Med 198S; 313:837-841 . 743.00 Clinical anophthalmos. unspedfll!d
$ ONGOING CARE 4. Wang HS, Parker S, Tait J, Pringle KC. Antenatal
diagnosis of anophthaImia by three-dimensional
FOLLOW-UP RECOM MENDA'nONS ultrasound: Anovel appllcadon of the reverse face CLINICAL PEARLS
Regular evaluation by an orularist Follow orbital and view. Ultrasound Obsret Gynetol 2008;32:
periorular tissue growth especially in first 5 years of 103-105. Check the patient for possible associated system lc
life, S. Schittkowski MP, Guti1off RF. Injectable self flndlngs.
PaRent Monitoring inflating hydrogel pellet expanders for ti1e Examine parents for coloboma.
School performance and development treatment of orbital volume defidency in cangen itaI Consider genetic mnsuIt
Patient concerns about appealilnce mlcrophthalmas: Preliminary results w1ti1 a new Prosti1esis fitting to ensure orbital and periocular
therapeutic approach. Br1 Ophtha/mo/ 2006; tissue gt"'W1h
90(9):1173-1177.
87
ANTERIOR BASEMENT MEMBRANE DYSTROPHY
Sadeer B. Hannush
The contribution of the corneal surface to the patient's
visual compromise may be further confirmed with a
DESCRIPTION HISTORY rigid gas-permeable (RGP) contact lens diagnostic
Corneal anterior basement membrane dystrophy ABMD is associated with two common presentations: evaluation. If the patient's vision improves significantly
(ABMD) is the most common corneal dystrophy. It is Awakening with pain, foreign body sensation, with an RGP lens, then ABMD may be a significant
also known as map-dot-fingerprint, mare's tail, and photophobia, and tearing (scenario 1) contributor to the patient's visual compromise.
Cogan's microcystic dystrophy Gradual visual compromise sometimes associated Pathological Findings
with foreign body sensation (scenario 2) A keratectomy specimen submitted for pathologic
ALERT
Corneal ABM Dis most commonly associated with PHYSICAL EXAM examination will usually show thickened epithelium
two clinie<~l presentations: Painful corneal erosions Scenario 1: If the patient is symptomatic on with a redundant basement membrane (it is not
and visual compromise. The treatment of one may presentation, they will likely have a welldemare<~ted uncommon to see basement membrane structures
differ from that of the other. area of loose epithelium in one part of the cornea undulating obliquely through multilayered epithelium)
with the rest of the cornea showing the classie<~l with cystic collections of epithelial debris.
EPIDEMIOLOGY manifestations of ABMD described above. DIFFERENTIAL DIAGNOSIS
Prevalence Scenario 2: Thickened epithelium and redundant Scenario 1(painful presentation): The differential
10% of the adult population in the United States has basement membrane over the pupillary aperture in diagnosis includes keratoconjunctivitis sice<~,
some manifestation of ABM Dwith a strong the form of map-dot-fingerprint, mare's tail, blepharokeratitis, rosacea keratitis. infectious
predilection for women. microcystic changes, or a combination of the above. keratitis. chemical keratitis (and other external
This results in an irregular corneal surface over the factors), trauma, embedded foreign body in the
RISK FACTORS visual axis. cornea or under the lid, and corneal epithelial
Genetics DIAGNOSTIC TESTS & INTERPRETATION edema.
The inheritance pattern is autosomal dominant. Scenario 2 (visual compromise): The differential
Visual acuity and slit-lamp biomicroscopy as noted in
PATHOPHYSIOLOGY physical exam diagnosis includes any condition e<~using a surface
Histopathologie<~lly, a thickened layer of corneal keratopathy including chemical and infectious
Imaging keratitis. keratoconjunctivitis sicca, other causes of
epithelium is recognized together with reduplie<~tion of Computerized corneal topography may be an
the epithelial basement membrane and entrapment of epitheliopathy (edema, Meesmann's dystrophy, and
invaluable tool in evaluating the contribution of stem cell deficiency), as well as other causes of
debris in cyst-like structures. corneal ABM D to the patient's blurred vision.
visual compromise, including other corneal
ETIOLOGY Irregular mires and an increased surface regularity clouding/opacification, e<~taract, vitreous opacity,
M with all corneal dystrophies AB MD is genetie<~lly index (SRI) usually imply that the surface is a
maculopathy, and optic neuropathy.
coded for, usually appears in the fourth or fifth signifie<~nt contributor to the visual compromise.
decades of life and may worsen over time. More recently, anterior segment ocular coherence
tomography (OCT) has been employed to further
delineate the epithelial and basement membrane
ABMD may be present with other corneal dystrophies
changes.
such as Fuchs' endothelial dystrophy and may be
exacerbated by chronic blepharitis.
88
IITERIOR BASEMENT MEMBRANE DYSTROPHY I
Scenario 2 (visual compromise): When ABMD is ~
. TREATMENT visually significant treatment usually consists of a ':r;7 ONGOING CARE
superficial keratectomy. we favor a dull rounded or FOLLOW-UP RECOMMENDATIONS
MEDICATION crescEnt len ife to remove the central H mmof
FirstUne corneal epithelium overlying the pupillary aperture. The treatment may be repeated as need.
Scenario 1 (Pain) The epitheliaI layer usually deaves easily off the PROGNOSIS
Lubrication, lubricatioo, lubrication! This may basement membrane. It is very important to then Excellent in both scenarios
indude drops. gel, or ointment deliberately remove the irregular, and frequently
- Encourage patient to open lids slowly upon redundant. basement membrane until Bowman's COMPUCATIONS
awakening followed by Instillation of lub~cant In layer is recognized with its characte~stic sheen: SealndaiY infection and subepithelial fibrosis/scar
the eye Important~, a diamond-dusted burr 1s not req ~Ired. formation
in this setting. Since eliminating recurrent eros1ons 1s
Second Une not the focus of treatment. roughening up
Hypertonic saline espedally In ointment form at Bowman's layer to improve adherence is not ADDITIONAL READING
bedtime: required (unnecessary diamond-dusted burr
- Pu nctal occlusion to create a wetter surfac:e Buxton JN, Fox ML. Superficial epithelial
polishing of Bowman's layer may result In some keratectomy in the treatment of epithelial basement
- Therapeutic bandage contact lens to protect the fibrosis and visually significant haze). In the same
corneaI surface, especially the areas(s) of loose membrane dystrophy. A prelimi nafY report. Aich
vein antifibrosis treatment with mitomycin is not Ophthalmo/1983;1 01(3):392-395.
epithelium, from the miM!ment of the Iid..A . ~afY. Moreove~ there is no real role for exdmer Buxton JN, Constad WH. SuperfiCial epithelial
prop~actic antibiotic may be considered 1n th1s 1~ phototherapeutlc keratectomy In the treatment
scenario. keratectomy in the treatment of epithelial basement
of ABM D in the absence of recurrent erosions. membrane dystrophy. Cornea 1987;6(4):292-297.
COMPLEMENTARY & ALTERNATIVE In both scenarios a therapeutic bandage contact lens Sridhar MS, Rapuano CJ, Cosar CB, et al.
THERAPIES Is placed (e.g. Ac\Mle Oasys). The patient Is staned
Photothelllpeutic keratectomy versus diamond burr
Topical nonsteroidal anil-Inflammatory medication to on a topical steroid, nonsteroidal anti-inflammatory polishing of Bowman's membrane in the treatment
control pain and cyclosporine both as an . agent, and fluoroquinolone antibiotic, as is the
of recurrent corneal erosions associated with
anti-inflammatory and to increase tear production may custom with most surface procedures. anterior basement membrane dystrophy.
be added to the first or second line treatments. Re-epithelialization usually takes place over the next Ophthalmology 2003;11 0(9):1855; author reply
3-7 days. The bandage coota~ lens is ~hen 1855.
SURGERY/OTHER PROCEDURES removed, the topical nonsteroidal anti-Inflammatory
o Scenario t (pain): Consideration may be given to Wong VW, Chi SC, Lam OS. Diamond burr polishing
agent and antibiotic discontinued, and the ste~ld
medlanleal keratectomy with a diamond-dusted tapered rapidly. A couple of weeks later the pat1ent for recurrent corneal erosions: resu Its from a
burr or phototherapeutic keratectomy with the is reevaluated, her visual acuity remeasured, and prospective randomized controlled trial. Cornea
excimer Iaser. Both techniques have been shown to 2009;18(2):152-156.
computel1zed corneal topography repeated.
be equally effective in decreasing the incidence of
recurrent erosions.
o Ethanol epitheliectomy has been shown to be . CODES
equally effective.
ICD9
371.52 Other anterior corneal dystrophies
CLINICAL PEARLS
corneal ABMD may present as painful corneal
erosions or visual compromise.
The treatment of painfuI erosions may involve a
stepwise approach from Iub~catlon to keratectomy,
while visually significant AB MD can usual~ only be
addressed by removaI of the abnormal epitheli urn
and basement membrane.
89
ARCUS SENILIS
Kristin DiDomenico
Alan R. Forman
~ BASICS
COMMONLY ASSOCIATED CONDITIONS On slit lamp examination. the distribution of lipid
Most closely associated with aging deposit is better appreciated.
Associated with hyperlipidemia and cardiovascular - Deposits are most concentrated in the area of
DESCRIPTION disease: Descemet's membrane (a deep corneal layer) and
Arcus senilis is a yellowish-white ring of extracellular -Early onset arcus (childhood and early adulthood) Bowman's membrane (a superficial corneal layer).
lipid deposition in the peripheral cornea separated is seen with familial hypercholesterolemia, and -Appears as two wedge-shaped opacities:
from the limbus by a narrow (< 1 mm) dear zone. It with type Ill, IV. and V hyperlipoproteinemia. o One wedge with the base on the superficial
is seen most frequently in the elderly, but can o Corneal arcus before the age of 45 is included membrane and the apex pointing posteriorly
present in children and rarely at birth. In younger in the criteria for diagnosing familial into the corneal stroma
patients, there is an association with hyperlipidemia hypercholesterolemia (5). o The other wedge with the base on the deep
and cardiovascular disease risk factors. It does not - Reported as a prognostic factor for cardiovascular membrane and the apex pointing anteriorly into
interfere with vision and requires no treatment. disease mortality in hyperlipidemic men aged the corneal stroma
Synonyms: Corneal arcus, gerontoxon 30-49 years (1) Peripheral margin of the arcus forms a sharply
- In children: Arcus juvenilis, anterior embryotoxon -Also reported as a prognostic factor for coronary defined edge, whereas the central margin is less
artery disease in men aged 30-49 years distinct.
EPIDEMIOLOGY
independent of its association with hyperlipidemia
Prevalence (1) DIAGNOSTIC TESTS & INTERPRETATION
Increases with age (1-3) Lab
When present in children it is called arcus
Higher in black. population {1 ,3) Patients younger than 50 years require serum lipid
juvenilis:
Higher in men (3) -Associated with certain congenital ocular measurements (1)[A].
Estimates of prevalence vary anomalies, such as blue sclera, megalocornea, Imaging
Approximately 65% of those 50 years or older (4) and aniridia In patients less than 50 years of age, consider
-Also associated with familial echocardiogram/stress echocardiogram in the context
RISK FACTORS
Older age hyperlipoproteinemias, as stated above of other findings.
Hypercholesterolemia Diagnostic Procedures/Other
Geneffa ~ DIAGNOSIS Any patient younger than 50 years requires detailed
Early onset arcus (by age 45) is common in familial worlc.-up for cardiovascular rislc factors {1 )[A].
hyperlipoproteinemias. HISTORY
- Familial hypercholesterolemia is an autosomal Gradual formation of a bilateral white corneal ring. -Assess for history of hypertension, diabetes, family
dominant inherited defect in lipoprotein Some patients complain of changing eye color: history, symptoms of angina. exercise. and
metabolism. - For example, a patient with a dark brown iris may smoking
o Homozygotes often present with arcus earlier
state that his or her peripheral iris is becoming - EKG, stress test
than heterozygotes (5). lighter. Children must be investigated for dysfunction of
Arcus does not cause any visual disturbances. lipoprotein metabolism.
PATHOPHYSIOLOGY
Cholesterol. cholesterol esters. triglycerides. and PHYSICAL EXAM Pathological Findings
phospholipids deposit within the cornea causing no A yellowish-white ring is visible in the peripheral Grossly, a white ring of lipid deposit limited to the
functional limitations cornea with a narrow dear zone separating it from peripheral cornea with a 0.3-1 mm dear zone
the limbus. separating it from the limbus:
EnOLOGY -While examination is aided by the use of a slit - Ring begins as two arcs, one near the superior
Product of aging and unlikely to represent disturbed lamp, arcus can be detected by examination with co meal margin and one near the inferior margin.
metabolism in elderly patients the naked eye and the use of a light source. Arcs grow until they meet circumferentially
In familial hyperlipoproteinemias, development of completing a 360 ring.
premature arcus relates to age of patient.
- In these cases, it is the duration of the
dyslipidemic disease, not its severity, that is
associated with formation of arcus {6).
90
His!Diagically, two concentric rings form within the
comea and extend toward one another In the
sc;~;' ,,;~Bf~=;~~ENIUS I
management of heterozygous fam lilaI hypercholes-
anterior-posterior plane.
. TREATMENT terolemia. Atherosclerosis 2004;173:55-68.
- ExtraC!!IIular lipid deposits initially appear in ADDITIONAL TREATMENT 6. Winder AF. Relationship bi!!Ween corneal araJS and
Descemet's membrane forming a triangular shape Genw11f Musul'fiS hyperlipidaemia is clarified by studies in familial
with the base along Descemet's membrane and No 11eatment required hypercholesterolaemia. Br1 Ophthalmo/1983;
the apex extending into the corneal strDma. 67:789-794.
- Lipid deposits aIso form an anll!rior triangular
shape with the base along Bowman's membrane ONGOING CARE
and the apex extending into the stroma. ADDITIONAL READING
-As more lipid is deposill!d, ltle apices of the FOLLOW-UP RECOMMENDATIONS
triangles extend toward one another and No follow-up is required for patients older than Peny H, Cameron J. Arcus senllls. In: Tasman W,
eventually fuse forming one ring. 50 years. Jaeger EA. eds. Duane's ophthalmology. Lippincott
Patients younger than 50 years must follow up with Williams & Wilkins, 2009:3:9.
Deposits consist of cholesll!rol, c:holesterol esll!rs,
phospholipids, and triglycerides (2,3). a cardiovascular risk factor evaluation with a Ehlers JP, Shah CP. The WT/Is e.)e manual: Office and
Similar lipid deposits also form wtthln the sdera.. but primary care provider. emergency room diagnosis and ueatment of e.)e
cannot be seen dinically because of ltle normal
disease. Lippincott Williams & Wilkins, 2008.
PATIENT EDUCATION
white scleral color. Older patients should be reassured that corneal
DIFFERENTlAL DIAGNOSIS aiCJs is a common finding wilt! aging. There are no
complications, no treatment is required and it will . CODES
Kayser-fleischer ring: Red, brown, or green ring of
abnormal corneal copper deposition forming on not Interfere with vtslon.
Younger patients wilt! arrus should be educated ICD9
Descemet's membrane (deep corneal layer) In 371.41 Senile corneaI changes
Wilson's disease that it may indicall! hyperlipidemia and an
evaluatlon Is recommended. 743.43 Other congenital corneal opacities
Chalcosis: Copper deposition in the cornea from an
intra-ocular foreign body
Band keratopathy: Calcium deposition In the REFERENCES CLINICAL PEARLS
superfidal corneal layer; may cause decreased vision
and foreign body sensation 1. Chambless LE, Fuchs FD, Linn S, et al. The Yellowish-v.tlite ring in the peripheral comea
Llmbal glrdle of Vogt White semicircular arc causing association of corneal arcus with coronary heart separall!d from the limbus by a narTow clear zone
peripheral opacity in the nasal region of the cornea disease and cardiovascular disease monallty In the Common finding in the elderly
bilaterally Lipid Research Clinics Mortality Follow-up Study. Does not Interfere with vtslon, has no complications,
Terrien's marginal degeneration: Bilateral thinning Am J Public Health 1!19();80: 120D-1204. and requires no treatment
of the peripheral corneal stroma forming a 1-2 mm 2. Cogan D, Kuwabawa T. Arcus senllls: It's pathology In patients younger than 50 years may indicall!
gutter and histochemistry. Ardl OJiJ th 1959;61 :353. hyperlipidemia and may predict cardiovascular
Idiopathic furrow degeneration: Thinning of the 3. Bardliesi B, Eckel R, Ellis P. The cornea and disease:
peripheral comea; usually requires no treatment disorders of lipid metabolism. Surv OfiJthal - Check serum lipids
Staphylococcal marginal keratitis: Infectious corneal 1991 ;36(1 ):1-22. -Evaluate for cardiovascular risk factors
infiltrate, often with overlying epithelial defect 4. Chua BE, Mitchell P, wang JJ, et al. Corneal arcus
Leclthln<holesterol acetyltransferase (LCAT) and hyperlipidemia: Findings from an older
deficiency: CorneaI opadty resembling artUs seni lis population. Am J Ophrhalmot 2004;137:363-3 65.
in patients with LCAT gene mutation, associated
with anemia, protelnurta, and premature
atherosclerosis
91
ATAXIA-TElANGIECTASIA [LOUI5-BAR SYNDROME, AT SYNDROME
BUDER-SEDGWICK SYNDROME] '
David Rhee
~ BASICS ETIOLOGY
Over 400 mutations have been identified in the ATM
gene in patients with AT.
Stooped position
Intention tremors that increase with age
Romberg sign is classically negative because truncal
DESCRIPTION - ATM encodes a protein kinase involved in the movement is equally pronounced with eyes open or
Ataxia-telangiectasia (AD is a multisystem biochemical cascade that responds to DNA closed.
neurodegenerative and immunodeficiency disorder damage and is required for immune maturation Sensation is intact. This finding coupled with the
characterized by cerebellar dysfunction, and telomere maintenance. negative Romberg differentiates it from Friedrich's
telangiectasias, immune dysfunction of both B and ataxia, which usually presents later in childhood.
T-lymphocytes, radiosensitivity, and COMMONLY ASSOCIATED CONDITIONS
Recurrent sinopulmonary infections Other signs include premature gray hairs. mask-like
lymphoproliferative cancer.
Lymphomas, leukemias faces, inelastic ears, a single cafe-au-lait spot, large
- Neurodegeneration/cerebellar atrophy results in
Thymic dysplasia frecldes, vitiligo, seborrheic dermatitis, and common
profound loss of cerebellar function, oculomotor
warts.
apraxia, progressive dysarthria, and
choreoathetoid movements.
- Immune dysfunction results in recurrent ~ DIAGNOSIS DIAGNOSTIC TESTS & INTERPRETATION
Lab
sinopulmonary infections. HISTORY More than 95% of AT children have an elevated
EPIDEMIOLOGY Abnormal eye movements (nearly 100%) blood alpha-fetoprotein (AFP) level. Although false
Any episodes of recurrent sinopulmonary infections positives are rare, in patients <2 years. AFP may be
lnddence
(48-81%) elevated because of the neonatal period (AFP is
Varies by region, in the United States, the highest
Growth retardation normally elevated in the pregnant mother) (1 )IC].
annual incidence was found to be 11.3 per million in
Michigan. In England, the birth frequency has been Difficulty walking, problems with balance (ataxia) t::.aryotyping - translocations of chromosomes 7 and
estimated to be 1 in 300,000 live births. (nearly 100%) 14 are common (4)IC].
Abnormal speech Serum immunoglobulin testing reveals deficiencies
Prevalence of lgG 2, lgE, and/or lgA.
Varies by region, in the United States, the estimated Choreoathetoid movements (30-90%)
Abnormal blood vessels on the eyes or skin noticed less common - increased sensitivity of colony
prevalence of AT is from 1 in 40,000 to 100,000. In
by the parents survival assays to ionizing radiation (5)1Cl. Western
France, the prevalence of AT has been estimated to
blots to confirm the presence of intracellular ATM
be 1 in 450,000. PHYSICAL EXAM protein, protein truncation testing of DNA
AT is the most common autosomal recessive ataxic Clinical diagnosis becomes most apparent after the complementary to the ATM gene is gaining
disorder in children <5 years (1)ICJ. age of 10 years when most children require a popularity as a fast screening tool (1 )ICI.
RISK FACTORS wheelchair, but can be detected in patients Imaging
Genetics <5 years and as early as 3 months. MRl often shows cerebellar atrophy and
Autosomal recessive Telangiectasias- the interpalpebral bulbar enlargement of the fourth ventricle, which typically
The ATM (ataxia-telangiectasia, mutated) gene is conjunctiva away from the limbus is the most increases with age (3,4)IC].
localized to 11q22--{j23. common initial location of telangiectases, appearing Chest radiographs will demonstrate minimal or
at the age of 3-7. Eventually, the telangiectases can absent thymic shadow, and changes that may be
Males and females are equally affected.
involve the entire conjunctiva, resembling consistent with cystic fibrosis (1 ).
GENERAL PREVENTION conjunctivitis, and can spread to involve malar and
Genetic counseling In addition, absent or reduced adenoidal tissue in
orbital, auricular, antecubital and popliteal skin.
Classically, these do not hemorrhage (2)IC]. any area is so common on radiography that the
Early diagnosis and referral to appropriate
presence of clinical lymphadenopathy is considered
specialists, including neurologists, ophthalmologists, Positive oculomotor apraxia -slow. hypometric
suggestive of lymphoma.
infectious disease specialists, and physical therapists saccades with head-thrusting (1)1Cl
Often abnormalities exist with the optokinetic Pathological Findings
PATHOPHYSIOLOGY AT primarily involves severe degeneration of Purkinje
AT primarily involves severe degeneration of Purkinje nystagmus drum.
Visual acuity (unless there is severe nystagmus), fibers in the cerebellar and extrapyramidal areas of the
fibers in the cerebellar and extrapyramidal areas of the central nervous system; however, the basket and
central nervous system; however, the basket and pupillary reflexes, and fundus appearance are
usually normal. granular cells of the cerebellar cortex may also be
granular cells of the cerebellar cortex may also be involved. Other pathophysiologic changes include
involved. Other pathophysiologic changes include Ataxia can be observed in infancy, as soon as the
diffuse fibrillary gliosis and the degeneration of the
diffuse fibrillary gliosis and the degeneration of the child is able to walk.
anterior horns of the spinal cord.
anterior horns of the spinal cord.
92
ATAXIA-lWIGIECfASIA (LOUIS-BAR SYIDROME, AT SYIIIIOME, BODER-Q:OGWICK SYNDROME) I
~~~:~~~-~=~ DIAGNOSIS f.t\ ONGOING CARE l. ~:~~-~~~~:s~;: ~ ~ier~T;,t~a~bellar
Cerebral palsy (cerebellar type) ~ atrophy on MRI. Neuroradiology 2003;45(5):
o familial spinocerebellar atrophies FOLLOW-UP RECOMMENDATIONS 315-319.
o GM 1 and GM2 ganglio5idoses Neurologist to assess progression of ataxia, 4. Lavin MF, Gueven N, Bottle S, et al. Current ana
Metaci1romatit leukodystrophy ctjsanhrla, choreoathetoid movements potential tl1erapeutit strategies for tl1e treatment of
0
Krabbe disease Immunologist to monitor immune dysfunction ataxia-telangiectasia. Br Med Bull 2007;81-82:
Pulmonologistto monitor for infection 129-147.
Maple ~up urine disease Ophthalmologist to assess nystagmus and 5. Beamish H, Lavin MF. RadlosensltMty In ataxia-
Progressive rubella panentephalitis oculomotor apraxia, as well as to follow the telangiectasia: Anomalies in radiation-induced cell
o Subacute sclerosing panencepha litis conjunctival and palpebral telangiectasias cycle delay. tnt 1 Radiat Bia/ 1994;65(2): 175-184.
Postinfectious encephalomyelitis Hematologist/ontologist for malignancy
Encephalitis DIET A
0
Other polyneuropathies
o Cerebellar tumor
No nutritional supplement has been shown to have a
benefit.
V CODES
fl TREATMENT
MEDICATION
PATIENT EDUCATION
See General Measures and Follow-up
Recommendations
ICD9
334.8 Other spinocerebellar diseases
379.51 Congenital nystagmus
o Appropriate antibiotic treatment for recurrent

http://www.nlm.nih.gov/medlinepluslency/
sinopulmonary infections; this treatment should be article/001394.htm CLINICAL PEARLS
directed by the Infectious disease spedallst. http:llwWN.nlm.nih.govlrnedlineplus/
o Periodic administiBtion of immunoglobulin
ataxlatelanglectasla.html AT Is a multisystem neurodegeneratlve and
immunodefidency disorder.
replacement has been reported beneficial for PROGNOSIS
patients with dlffltulty with vaccine responses. Refer Death is most commonly caused by a recurrent It com prise.s otuIomotor apraxia, progressive
to immunologist. infectious disease. sinopu lm onary infection, and most rommon ly occurs dysarthrla and choreoathetoid movements.
in adolescents. although the life expectancy is quite telangiectases. lymphoproliferative cancer, and
o No adequate treatment for the neurologic or
immune dysfunction resulting in retu rrent
ophthalmlc manifestations has been found. variable and some have survived to middle age.
slnopul monary Infections.
Regular surveillance for leukemic or lymphoid Other rommon causes of death lndude malignancy,
malignances must be observed. or a combination of malignancy and infection. InitiaI diagnostics features indude characteristic
iindings and elevated blood AFP.
ADDITIONAL TREATMENT Treatment involves a multidisciplinary team with
General Measures REFERENCES neurology, hematology/onrology, pul monology,
o Children wi II eventually need full-time classroom immunology, infectious diseases, and
aides for help with reading. 1. Perlman S, Beeker-Catania S, Gatti R. ophthalmology.
Physical therapists and aides are also important for Ataxia-telangiectasia: Diagnosis and treatment
preventing muscle stiffness and position-related Semin Pediatr Neural 2003;10:173-182.
issues. 2. Morrell D, Cromartie E, Swift M. Mortality and
Parents and guardians should be roaci1ed to cancer incidence in 263 patients with ataxia-
re<ogn ize early signs of pulmonary or respiratory telangiectasia. J Nat/ Cancer lnst
infection. 1986; 77(1 ):89-92.
SURGERY/OTliER PROCEDURES
Musde surgery if there is a strabismus or nystagmus
causing problems with primary gaze or head tilt in
prlmarygaze
93
AXENFELD-RIEGER SYNDROME
L Jay Katz
~ BASICS
COMMONLY ASSOCIATED CONDITIONS - Peripheral iris changes usually do not progress
The most common systemic anomalies associated after birth, but central iris anomalies have
with Axenfeld-Rieger syndrome are dental and progressed during childhood in a small number of
DESCRIPTION facial bone abnormalities: individuals.
A spectrum of developmental disorders resulting in - Microdontia - Elevated intraocular pressure may be present.
bilateral iris and angle abnormalities frequently - Hypodontia - Optic nerve cupping may develop. When the onset
associated with secondary glaucoma and systemic - Oligodontia is in childhood, cupping is usually concentric with
anomalies including dental and facial bone -Anodontia healthy surrounding disk tissue until late stages.
abnormalities - Maxillary hypoplasia Pediatric Considerations
Nomenclature has changed through the years. - Hypertelorism
In children, exams under anesthesia are often
Axenfeld anomaly, Rieger anomaly, and - Telecanthus
required. However, all children should also be
Axenfeld-Rieger syndrome have previously been - Broad, flat nose
examined without sedation to screen for amblyopia
classified separately but now are all considered to Other less common systemic associations include:
and monitor ocular motility.
be a single entity representing a spectrum of related - Pituitary anomalies including empty sella
anterior segment developmental disorders syndrome and growth hormone deficiency In children <3 years of age, monitor for the
collectively referred to as Axenfeld-Rieger syndrome. -Redundant periumbilical skin following signs as they may be indicative of the
- Hypospadias onset of glaucoma:
EPIDEMIOLOGY - Progressive corneal enlargement
- Heart defects
lnddence - Middle ear deafness - Increasing axial length
Rare - Mental retardation - Progressive myopia or rapid loss of hyperopia
Prevalence Ocular abnormalities that are not identified as part
Unknown of the Axenfeld-Rieger spectrum but have been
infrequently associated with Axenfeld-Rieger Imaging
RISK FACTORS Optic disc photos
Family history syndrome include:
- Strabismus Consider optic nerve head imaging (optical
Genetia - Limbal dermoids coherence tomography, confocal scanning laser
Autosomal dominant with high penetrance -Cataracts ophthalmoscopy, scanning laser polarimetry);
Mutations at the following loci have been Iinked to - Iris transillumination defects hand-held optical coherence tomography (if
Axenfeld-Rieger syndrome (1)[8]. - Retinal detachment available) may be used during exams under
- Macular degeneration anesthesia.
- Paired-like homeodomain transcription factor 2
- Chorioretinal colobomas Diagnostic Procedures/Other
(PITX2, 4p2 5): A transcription factor that
- Choroidal hypoplasia Visual field (once the child is old enough to complete
regulates the expression of other genes in anterior
- Optic nerve hypoplasia this test reliably, the age will vary depending on the
segment structures, dental lamina, and the
umbilical cord during embryonic development child)
- Forkhead box C1 (FOXC 1)- formerly called
Forkhead Drosophila homologue-like transcription
~ DIAGNOSIS Pathological Findings
Peripheral iris strands attached to (or sometimes
factor gene- (FKHL7, 6p25): Another HISTORY anterior or posterior to) an anteriorly displaced,
transcription factor Most cases are identified in infancy or childhood prominent Schwalbe's line.
- Gap junction protein, alpha 1 (GJA 1, 6q21 q23.2): during a routine exam, often prompted by a positive A monolayer of spindle-shaped cells extends from
Encodes connexin 43 protein which forms gap family history. the cornea to cover the angle and anterior surface of
junctions Often asymptomatic, but may present with the the iris_
- Paired box gene 6 (PAX6, 11 p13) symptoms of infantile glaucoma such as This layer of spindle-shaped cells is frequently seen
- V-MAF avian musculoaponeurotic fibrosarcoma blepharospasm, epiphora, and/or photophobia covering the iris in areas toward which the pupil is
oncogene (MAF, 16q24) Glaucoma develops in 50%. displaced.
- 13q 14 (gene unknown)
PHYSICAL EXAM The iris stroma may be thin or absent in areas away
GENERAL PREVENTION Typically bilateral from the corectopia.
No known modes of prevention, other than genetic Ocular findings include a range of the following Iris not adherent to the cornea typically inserts into
counseling. corneal, angle, and iris anomalies (3)[C]: the posterior aspect of the meshwork.
PATHOPHYSIOLOGY -A prominent, anteriorly displaced Schwalbe's line The trabecular meshwork is composed of a reduced
A neural crestopathy resulting from a genetically (posterior embryotoxon) noted 360 or limited to number of attenuated lamellae.
triggered arrest in anterior segment development the temporal quadrant with adherent peripheral Schlemm's canal may be rudimentary or absent.
during late gestation (2)[C] iris strands.
DIFFERENTIAL DIAGNOSIS
Consequently, the aqueous outflow structures are -The cornea is usually otherwise normal, although
lridocorneal endothelial syndrome
incomplete and retained primordial endothelium megalocornea, microcornea, and central opacities
have rarely been described. Posterior polymorphous dystrophy (PPM D)
covers the angle and iris (2)[C]. Posterior embryotoxon
-On gonioscopy, the iris inserts into the posterior
EnOLOGY meshwork. obscuring the scleral spur. Peters anomaly
A genetic developmental disorder -The iris may be normal or stromal thinning,
See Pathophysiology pseudopolycoria, corectopia, and/or ectropion
uvea may be present.
94
AXENFELD-RIEGER SYNDROME I
SURGERY/OTHER PROCEDURES REFERENCES
. TREATMENT When glaucoma progresses Inspire of medical
management, surgery Is lndlcated. 1. Cella W, Cabllll de Vasconcellos JP, de Melo MB, et
MEDICATION With infantile-onset glaucoma, goniotomy or al. S1ructurnl assessment of PITX2, FOXC1,
RrstLine trabeculotomy may be atl!!mpted, but results may CYP1B1, and GJA1 genes In patients with
Observation may be appropriate if no signs of owlar be suboptimal due to underlying abnormalities of Axenfeld-Rieger syndrome with developmentaI
hypenenslon or glaumma are present. Sthlemm's canal (3)[C]. glaucoma. Invest OfiJtha/mol Vis Sd 2006;47:
0nee elevated intraocular pressure develop5, For all other cases. trabeoulectomy (3)[C] or a 1803-1809.
medical therapy should be initiated: glaucoma drain age device are the surgical 2. Shields MB. Axenfeld-Rieger and iridocomeal
-Topical beta-blockers On children, timolol 0.25%, procedures of choice. endothelial syndromes: Two spectra of disease with
II!VDbunolol 0.25%, or bl!taxolol are reasonable o Diode cydophotocoagulation can be utilized when striking similarities and differences. J Glaucoma
options) aII other medicaI and surgical therapies fail. 2001 ;10(Suppi1):S36-S38.
-Topical aibonic anhydiGSe inhibitors {e.g., 3. Shields MB, Buddey E, Klirrtworth GK, Thresher R.
dorzolamide, brinzolamide) Axenfeld-Rieger syndrome. A spectrum of develop-
- Prostaglandin analogs {e.g., latanoprast. ONGOING CARE mental disorders. surv O/iJtha/mo/1985;29:
travoprost. bimatoprosl) 387-409.
-Topical alpha2-agonists (e.g., brimonidine)
All patients require life-long fol iow-{jp as glaucoma
ALERT suspects. ADDITIONAL READING
Use of alpha2agonists (e.g., iopidine, Once glaucoma develops, patients should be seen
f!11erY 3-6 momhs depending on disease severity Alward WL. Axenfeld-Rieger syndrome in the age of
brlmonldlne) In dllldren < 1 year of age Is not molecular genetics. Am J OfiJtha/mol 2000; 130:
recommended due to potemlal central nervous and age at diagnosis.
In young children, remember to repeat axial length 107-115.
system depression. Shields MB. .Axenfeld-Rieger syndrome: A theory of
and corneal diameter measurements as well as
streak. retinoscopy lrequemly to monitor for medlanism and distinctions from the iridocomeal
SecondUne glaucoma progression. endothelial syndrome. Trans Am Ophthalmol Soc
Oral caibonic anhydrase inhibitors (in children, 1983;81:736-784.
o Optic nerve photos or imaging should be repeated
acemzolamide 15-30 mg/kg per day, divided into 3 to
4 doses) periodically as well.
Visual fields shcNid be repeated annually in aII
ADDITIONAL TREATMENT patients and at least annually in patients with . CODES
General Measures glaucoma (once reliable tests are obtainable).
Treat coexisting amblyopia if present. ICD9
DIET 365.41 Glaucoma assodated with chamber angle
Issues for Referral No speciaI diets are required. anomalies
All d1 ildren with Axenfeld-Rieger syndrome should
PATIENT EDUCATION 743.44 Specified congenital anomalies of anterior
be referred to a pediatridan for a complete physical chamber, chamber angle. and related structures
exam. Subsequent referrals to endocrlnology or The Pediatric Glaucoma and Cataract Family
dentistry are sometimes needed. Assodation 'IIWIW.pgcfa.org
o American Assodation for Pediatric Ophlt1almology
Genetics consultation for counseling and molecular CLINICAL PEARLS
testing and Strabismus W\WJ.aapos.org
Referral to a glaucoma specialist or pediatric PROGNOSIS A bilateral, genetic, developmental disorder of the
ophlhaImologlst experienced with glaucoma may be Development of glaucoma often resu Its in a poor anterior segment resulting in dlaracteristic corneal,
necessary if/when elevated intraocular pressure prognosis as this form of secondary glaucoma is angle. and iris abnormalities
develops. typically diffiwlt to control and frequendy requires It may be associated with nonocular anomalies,
Additional Therapies surgical intervention. most commonly dental and fadal abnormalities.
Laser trabew loplasty is usually ineffective and is not COMPUCATlONS Detection and control of secondary glaucoma, which
recommended. Glaucomatous visuaI field loss decreased visual occurs in SO% of patients. is key to management.
acuity Glaucoma management can be challenging and
o An isometropia often requl res surgery.
Myopia
Amblyopia
95
BAND KERATOPATHY
Christine W. Chung
~ BASICS ETIOLOGY
Chronic eye disease: Chronic uveitis, end-stage
glaucoma, phthisis bulbi. Severe dry eye disease
Lab
Initial lab tests
DESCRIPTION may increase risk of band keratopathy because of Complete slit lamp examination (see the Physical
A degenerative corneal disorder characterized by a tear hypertonicity. Exam section for typical features). Look for evidence
gray or white band of opacity in the interpalpebral Abnonmal calcium and phosphate metabolism or of underlying ocular disease, including corneal
fissure, most commonly caused by tile gradual levels: Hyperparatllyroidism, malignancy, edema, cell and flare in anterior chamber, synechiae,
precipitation of calcium in the anterior layers of the sarcoidosis. Paget's disease, vitamin D overdose, elevated intraocular pressure or hypotony,
cornea (Bowman's membrane, epithelial basement renal failure, milk-alkali syndrome glaucomatous optic neuropatlly, silicone oil, phthisis.
membrane, and anterior stroma). Chemical or drug exposure: Mercury vapor, topical In tile absence of ocular conditions accounting for
EPIDEMIOLOGY medications containing phosphates or mercurial the band keratopathy, check for elevated serum
Incidence preservatives, silicone oil calcium, phosphate, BUN, creatinine.
Unknown Gout (causes deposition of urate crystals in the Check for elevated serum uric acid, if gout is
anterior cornea) suspected.
Prevalence
Unknown COMMONLY ASSOCIATED CONDITIONS Follow-up a special considerations
See the Etiology section. If systemic abnormalities detected, further lab tests
RISK FACTORS may be indicated (e.g., paratllyroid hormone level to
Chronic eye disease
~ DIAGNOSIS
investigate hypercalcemia).
Abnormal calcium and phosphate metabolism Pathological Findings
Mercury exposure Basophilic stippling of Bowman's layer, progressing
Ocular surgery using silicone oil HISTORY
Decreased vision Of opacity is in visual axis) to linear deposits of calcium in the superficial
Gout (causes a pigmented noncalcific band cornea. Calcium deposits are intracellular in
Foreign body sensation (if epithelium is
keratopathy) hypercalcemia and extracellular in ocular disease.
compromised)
Genetics Ocular and systemic risk factors (see the Risk Factors In gout, urate crystals are seen in epithelial cell
Rare cases of a familial calcific band-shaped section) nuclei.
keratopathy, probably autosomal recessive, have been Toxic exposures DIFFERENTIAL DIAGNOSIS
reported (1 ). Corneal scar
PHYSICAL EXAM
GENERAL PREVENTION Grayish plaque in superficial cornea in tile Interstitial keratitis
Management of chronic eye inflammation or other interpalpebral zone, often witll clear lacunae, Calcareous corneal degeneration (posterior stromal
disease; management of systemic calcium and creating a Swiss-cheese appearance. Opacity or full thickness calcium deposition which may occur
phosphate abnormalities starts at 3 and 9 o'clock positions, separated from in eyes with chronic ocular disease or inflammation)
PATHOPHYSIOLOGY the limbus by clear cornea, and slowly progresses
Precipitation of calcium below the corneal epithelium, centrally. If calcium deposits break through
thought to be caused by tear film hypertonicity, pH epithelium, fluorescein staining will detect an
elevation, or changes in calcium or phosphate epithelial defect.
concentration. In mercury exposure and silicone In gout, tile deposits are yellow and crystalline.
keratopathy, calcium deposition occurs because of
degenerative corneal changes.
96
BUD KERATOPATHY
. TREATMENT
MEDICATION
ONGOING CARE
3. O'Brart DPS, Gartry 05, Lohmann CP, et al.
Treatment of band keratopathy by exclmer laser
phototherapeutic keratectomy: Surgical techniques
and long tenn follow up. Br1 Ophthalmo/1 993;
I
',
For mlid foreign body sensation, tDplcallu brlcatlon Patient Monitoring 77:702-708.
with artifidal tears or ophtllalmic ointrnerrts may be As needed for symptOms (decreased vision, foreign 4. lm SIC, Lee KH, Yoon KC. Combined
helpful. (For decreased vision or more severe foreign body sensation) etllylenediaminetetraacetic acid chelation,
body sensation or pain, surg leal debridement Is As. needed for management of underlying ocular or phototherapeutic keratectomy, and amniotic
indicated. See the SurgeryiOther Procedures sedion systemic causes membrane transplantation for treatment of band
below.) After EDTA chelation, close follow-up until keratopathy. KCNI!an J Ophfha/mo/ 2010;24(2):
MedicaI tllerapy for underlying ocular or systemic epithelium is healed, and tilen as needed. 73-77.
causes as indicated. 5. Wood TO, Walker GG. Treatment of band
DIET
ADDITIONAL TREATMENT As. indicated by any systemic etiologies (renal failure.
keratopathy. Am J Ophthalmo/1975;80:550.
luws far Refflfral villlmin D DVI!rdose, milk-allcali syndrome)
Follow-up as needed based on symptoms and PROGNOSIS ADDITIONAL READING
underl~ng orular or systemic disease
Ukelyto recur or progress, but because progression is
usually very gradual. symptOms of decreased vision Keratopatlly, Band: eMedlclne Ophthalmology.
SURGERY/OntER PROCEDURES http://emedicine.medscape.comlartide/11 94813-
SurgicaI debridement is indicated if pain or and foreign body sensation may not reappear for
overview
decreased vision becomes significant. months to years.
- Ethylenediamine tetraacetic add (EDTA) chelation
Stewart OG, Morrell AJ. Management of band
COMPLICATIONS keratopatlly with exclmer phototherapeutlc
of calcium deposits: Debridement or removaI of Corneal Infection due to epithelial breakdown keratedomy: visual. refractive, and symptomatic
corneal epithelium, followed by application m
Following EDTA chelation, PTK.. or o1her surgical outcome. Eye (Land) 2003; t 7(2):233-237.
EDTA to 'the exposed mmeal surface in orner to
debridement, corneal haze or scarring may develop.
remove the calcium deposits by dlelatlon (2)[C]
- Exdmer laser phototherapeutic keratectomy (PTK). PTK may cause myopic shift.
May be used primarily (3)[C] or in combination . CODES
w1tll EDTA chelation (4)[C] REFERENCES
- MechanicaI debridement of deposits, e.g., by ICD9
scraping with a surgical blade (S)[C] 1. Arora R. Shroff D, Kapoor S, et al. Familial calcific 371 A3 Band-shaped keratopatlly
band-shaped keratopathy: Report of two new cases
w1tll early recurrence. Indian J Ophthalmol 2007;
55(1 ):55-57. CLINICAL PEARLS
2. Najar DM, Cohen EJ, Rapuano 0, et al. EDTA Band k.eratopathy Is usually seen In eyes w1th
chelation for caldfic band keratopathy: Resu Its and d!ronic ocular disease or inHammation.
long-tenn follow-up. Am J Ophfha/mo/ 2004; When no underlying ocular mnditian is obvious,
137(6~1056-1064. dleck for hypercalcemia or renal abnormalities.
97
BARTONELlA NEURORETINIDS
Andrew Lam
Lab
Serologic testing for Bartonella henselae and other
DESCRIPTION HISTORY infectious etiologies
Neuroretinitis is a condition characterized by optic Eye complaints: Eye ache, worse with eye
movement, blurry vision ELISA for Bartonella henselae is available
disk swelling and hard exudates distributed in a star
pattern centered around the fovea: Systemic complaints: Symptoms of cat-scratch Imaging
-Bartonella henselae, a gram negative bacillus disease may include malaise, fever, muscle aches, Fluorescein angiogram: Disk. swelling/leakage,
associated with cat-scratch disease, is the most headache peripapillary vessel staining may be seen
common infectious etiology of neuroretinitis. Travel history Diagnostic Procedures/Other
EPIDEMIOLOGY Animal contacts Visual field test- cecocentral scotoma most common
All ages can be affected Sexual history defect
Most common in tllird or fourtf1 decade Note any ingestion of uncooked food DIFFERENTIAL DIAGNOSIS
No gender predilection PHYSICAL EXAM Optic neuritis
Visual acuity varies from normal to light perception Optic neuropathy
RISK FACTORS
History of contact with cat or kitten Abnonnal color vision
Afferent papillary defect
ETIOLOGY . TREATMENT
Optic nerve edema
Infectious causes: Bartonella henselae, syphilis, viral,
toxoplasmosis, toxocariasis, histoplasmosis, Lyme Macular hard exudates in star configuration MEDICATION
disease Splinter hemorrhages, retinal vessel occlusion may First Line
Systemic inflammatory conditions such as be seen For cat-scratch disease:
sarcoidosis Discrete, small yellow-white retinal or choroidal Ciprofloxacin 750 mg PO b.i.d. for 3 weeks
infiltrates Consider erytllromycin, azithromycin, doxycycline.
COMMONLY ASSOCIATED CONDITIONS Vitreous cells/posterior inflammation rifampin
Cat-scratch disease Patients with cat-scratch disease may exhibit
Syphilis lymphadenopathy, arthritis, meningitis, encephalitis,
Sarcoidosis or may be asymptomatic
98
BARTDNEUA NEURORETlNITIS
ADDITIONAL READING
I
ONGOING CARE . CODES
Reed JB, Scales DK. Wong MT, et al. Bartonella
FOU.OW-UP RECOMMENDA110NS h~ae neuroretinitis in cat scratch disease. ICD9
Primary care doctor or infectious disease spedaliS'I Diagnosis. management. and sequelae. 363.05 Rlcal retinitis and retinochoroiditis,
OphthaImologist O{iltha/molagy 1998; 105(3):459--466. Juxtapaplllary
01merod LD. Skolnick KA. Menosky MM. et al.
PROGNOSIS
Usually a self-limited course with good vtsual Retinal and choroidal manifestations of cat-saatch
prognosis. disease. O(ilrhalmology 1998;105(6):1024-1031. CLINICAL PEARLS
Optic nerve swelling usually improves DVer SolleyWA. Martin OF, Newman NJ, etal. Cat
Neur~reti nitis is characte(lled by optic nerve
6-8 weeks. Residual disk paiiDr mil)' remain. scratch disease: Postl!rior segment manifestations.
O{il tha/molagy 1999; 106(8):1546-1553. swelh ng and exudative macular star.
Macular exudates resolve over 6-12 months. Bartonella henselae is the most common infectious
Ray S. Gragoudas E. NeurDretinitis. lnt Ofi!rhalmol
Symptoms of metamorphopsia or blurred vision may C/ln 2001;41 (1):83-102. cause af neuroretinitis.
persist. VIsual prog nosls Is often good and disease Is
Most patients do not experience reanrence in the self-limited.
same or feiiDW eye.
COMPLICATIONS
VIsua Iloss
Systemic sequelae of a causadve Infectious or
inflammatory agent
99
BEHI;ET'S DISEASE
Alex B. Theventhiran
Sunir J. Garg
~ BASICS
Genetics Skin lesions are predominately erythema nodosum,
HLAB51 phenotype and its subtypes HLABw51 superficial thrombophlebitis, and eruptions
and 8*501 have been identified as risk factors. resembling acne vulgaris or folliculitis.
DESCRIPTION HLADR1 and HLADQw1 have been identified as Genital ulcers are recurrent and occur in the vagina
Systemic vasculitis characterized by triad of recurrent significantly decreased in Beh~t's patients - or vulva in females, the penis or scrotum in males,
oral aphthous ulcers, genital ulcers, and uveitis. Skin possibly providing resistance to disease and in the perianal area in both sexes. They can be
lesions are common. development. painful or painless.
Uveitis ranges from nongranulomatous anterior Uveitis is present in -79% of patients and
uveitis (classically with hypopyon) to chronic retinal PATHOPHYSIOLOGY
A nonspecific obliterative vasculitis of small blood manifests as nongranulomatous inflammation with
vasculitis. necrotizing obliterative vasculitis.
vessels due to abnormal cellular immune responses
Pediatric Considerations including lymphocyte dysfunction Patients often complain of pain, redness,
In Japan, 1.5% of cases of Beh~t's disease occur in photophobia, and blurred vision.
children. Various forms, including a transient neonatal ETIOLOGY The anterior segment often has iridocyclitis without
case, have been documented. In children, there is a Unknown. It is postulated that a genetic hypopyon. Hypopyon occurs in the classical
predisposition combined with an environmental presentation"; however, it occurs in less than a third
greater frequency of uveitis and arthritis, but genital
trigger produces the disease. of ocular cases, likely due to more aggressive early
and oral ulcers are less common.
Streptococcus and viruses (HSV1, Hepatitis C) have treatment.
Pregnancy Considerations been studied as possible triggers. Posterior segment involvement leads to greater
Most studies show a good outcome in pregnancy, with morbidity. Retinal vasculitis affects both arteries and
~ DIAGNOSIS
the majority of patients showing no change during veins. Vitreitis can occur.
labor and after delivery, and no worsening of disease CNS symptoms (due to vasculitis) may be motor,
symptoms and no significant difference in frequency of sensory, or psychiatric. Meningoencephalitis may be
HISTORY
congenital malformations, spontaneous abortions, and Beh~et's disease is a clinical diagnosis. the most common manifestation (uncommon
perinatal death. There is no specific laboratory test to confirm the overall).
EPIDEMIOLOGY diagnosis. Neuro-ophthalmic findings include 6th and 7th
lnddence There are various systems for diagnosis. nerve palsies, central scotomas. and optic disc
Greatest incidence is in Turkey and Japan, and along The International Be~cet Study Group criteria are: edema.
the ancient silk route connecting the two. - Recurrent oral aphthous ulcers occurring 3 times PHYSICAL EXAM
More common in young patients (25-35 years), but in 12 months. Inspect for oral and genital ulceration, skin lesions,
occurs in all ages. - In addition to oral ulcers, 2 of the following must and other criteria listed above.
Prior studies suggested a higher incidence in men; be present: Recurrent genital ulcers, uveitis, skin Anterior uveitis and presence of a hypopyon. The
however, recent reports suggest a more even lesions, and/or positive pathergy test. hypopyon may change position with head
distribution between men and women. The Beh~et's Disease Research Committee Criteria movement.
are: Posterior segment ocular involvement includes
Prevalence
Prevalence in Japan is 8-1 0/100,000 and it 1. Major criteria: Recurrent oral aphthous ulcers, retinal vasculitis affecting both arteries and veins,
recurrent genital ulcers, skin lesions, and uveitis profound nonperfusion, venous and capillary
comprises 20% of all uveitis cases in Japan. In
Turkey, the incidence is Bo-300/1 00,000. 2. Minor criteria: Arthritis, intestinal ulcers, dilatation with engorgement, patchy perivascular
It is rare in the United States, with prevalence of epididymitis, vascular disease, and neuropsychiatric sheathing with inflammatory exudates, yellow-white
4/1 ,000,000 and comprises 0.2--Q.4% of all uveitis symptoms exudates deep in the retina, neovascularization, and
cases. Complete Beh~t's disease requires a history of all vitreitis.
4 major symptoms.
RISK FACTORS DIAGNOSTIC TESTS It INTERPRETATION
Incomplete diagnosis requires 3 major symptoms or
Occurs most commonly in patients from Turkey, uveitis with 1 minor symptom. Lab
Japan, the Middle East Pakistan, northern China, Initial lab tests
Suspect diagnosis requires 2 major symptoms,
and Korea. Rare in North America. None generally necessary.
excluding uveitis.
Poorly defined environmental and infections Pathergy sk.in reaction/Behcetine sk.in test (sterile
Possible diagnosis requires any major symptom. pustules that develop at the site of spontaneous or
exposures due to streptococcus, HSV type 1,
The most common symptom is oral aphthous ulcers induced trauma) is present in 40% of Beh~et's
Hepatitis CVirus, and f. coli have been suggested.
which occur in 98% of patients. They are discrete patients.
white ulcerations with a red border that are
HLA-851 typing (present in >50% of Beh~et's
3-15 mm in size.
patients of Mediterranean and Japanese origin) may
be used to aid with diagnosis.
100
BEH~ErS DISEASE
Nonspecificfactors of immune system activation:

Elevated levels ofserum proteins. circulating
Immune CDI11plexes, arute phase reactants, and
other complement reactive proteins may be present
duringtheacu~pha~
ADDmONAL TREATMENT
Issues for Referrel
Patients with ocular Involvement req ulre prompt
referral ID a uveitis/retinal specialist as there can be
up IDa 90% r.rte of blindness with
COMPLICA110N5
Bilateral vision loss due to ocular Inflammation.
Antellor uveitis can cause cataract formation or
glaucoma. Pos~rior segment inflammation can
result in macular and peripheral retinal ischemia,
I
:
Follow-up a special considerations delayed/inadequate treatment. and optic nerve damage.

Lumbar puncru re (not routinely needed) shows A multidisdplinary ll!am is required to manage the Rl!tinal ni!OV!Iscularization, retinal delllchment,
pleocytOSis of CSF. In addition, MRI and CT imaging various systemic effects of the disease. vitreous hemormage, and vitreous traction can also
may be used to identify possible CNSiesions. occur.
5URGERY/OT11ER PROCEDURES
Imaging Surgery fer tataracts can occur when visual
Fluorescein angiography (FA) Is helpful to analyze the improvement can be expected and the eye has been ADDITIONAL READING
extent of ret! na vascular damage, to evaluate inflammation free for 3 months.
neovascularizillion, and ID assess response to therapy. As surgical trauma may Induce recurrence of the Ki!;maz RO, Kempen JH, Newcomb C, et al. Ocular
Inflammation, consider prophylaxis with systemic inflammation in Beh~ disease: lnddence of ocular
DIFFEREN11AL DIAGNOSIS and topical steroids 1week preoperatively with complications and of loss of visual acuity. Am 1
Viral retinitis continuation postoperillively with a slow taper over OphthaJmol 2006;146(6):828-836.
HLA-82 7 assodated amerlor uveitis (hypopyon), several weeks. Any systemic immunosuppressive Marsal s, Falga c, Simeon CP, et al. Behs
especially reactive arthritis drugs should be continued. disease and pregnancy relationship srudy. Br J
Laser photocoagu latlon can be used for retinal Rheumato/1997;36(2):234-238.
Sarcoidosis
neovascularization and does not produce Sakane T, Takeno M, Suzuki N, et al. Behs
Tuberculosis
poS!Dperativl! inflammation. diseaSI!. N Engl Med 1999;341:1284-1291.
Systemic lupus erythematosus (SLE)
IN-PATIENT CONSIDERATIONS Tabbara KF, AJ-Hemidan AI. lnfliximab effects
Polya~rltls nodosa (PAN) compared to conventional therapy In the
Wegener's granulomatosis (WG) Initial S~blllzatlon management of retinal vasculitis in Behcet disease.
Oral ulcers: Stevens-Johnson .syndrome, Reirer's High dose oral or pulse dose conlcosterolds for rapid Am 1 Ophthalmo/2008; 146(6):845-850.
syndrome, trauma antl-lnflammatory effect
Genital ulcers: Herpetic ulcers, reactive arthritis Admlulon Criteria
(Reiter's syndrome) Any severe vision or lifethrea~ning manifestation of . CODES
Beh~'s disease should prompt mnsideration of
hospitalization. ICD9
. TREATMENT 136.1 Be~s syndrome
MEDICATION ONGOING CARE 360. 12 Pan uveitis
RI'StLine 364.3 UnspedfM!d iridoc.yditis
Medication is based on disease severity. If mmplete FOLLOW-UP RECOMMENDATIONS
Behs disease, severe ocular/retinal Involvement, Patients will need very close manitoring until the
CNS involvement, or other significant vasculitis, disease is brought under control. They will also CLINICAL PEARLS
aggressive treatment is required. (Men, and people need continuous follow-up with other specialists as
of Turkish/Japanese descent also usually require needed. The characteristic findings are uveitis. oral aphthous
more aggressive treatment.) ulcers, genital ulcers, and skin lesions.
PROGNOSIS
Oral (1-2 mgl1cg per day) or pulse dose As this is a generalized vasculitis. patients have
Prognosis is improved with prompt aggressive
corticosteroids have a rapid onset of action. numerous organ and lile-threatening compi icatians
treatment. but visual outmmes can be guarded.
However, Behs patients in need of high dose Even with therapy, legal blindness has been noted to
as a result.
s~roids require steroid sparing agents as high dose occur in >50% of cases within 4 years (but this was Prompt and aggressive immunosuppressive control
s~roids cannot be used for long periods of time with earlier immunosuppressive agents). lsaltlcal.
without severe side effects. Systemic prognosis is good in the absence of CNS
Biologics such as the TNF Inhibitors lnfllxlmab involvement. vascular involvement. or Gl
(Remlcade) and adallmumab (Humlra) should be perforillion. Remissions increase in duration with
considered. Cytotoxic agents (chlorambucil, time and disease slllbilization occurs after
cyclophosphamide), the antimetabolites ~10years.
azathioprine and mycophenolate mofetil, and the Prognosis Is better In the USA than In Mediterranean
cald neurin lnhlbltors cyclosporlne-A and tacrollmus or East Asia, possibly due to a less severe form of
are used In combl nation with conlcosterolds. the disease or more effective treatment
SecondUne
Cyclophosphamide and chlorambucil are useful,
especially in cases of severe CNS and
gastrointestinal Involvement
Colchldne and thalidomide can be useful In systemic
disease, bill do not control uveitis well.
Neutrophilie apheresis has been shown ID be helpful
in some patients.
101
BENIGN CONJUNCTIVAL LESIONS
Matthew Gorski
Colleen Halfpenny
~ BASICS
ETIOLOGY PHYSICAL EXAM
Pap: HPV, most commonly benign types 6 and 11, Pap: Pedunculated or sessile, pink-red, fleshy,
rarely type 16 or 45 smooth often verrucous appearing on bulbar or
DESCRIPTION KS: Human herpesvirus-a (HHV-8) DNA or Kaposi's palpebral conjunctiva. Viral usually multiple lesions
Benign conjunctival lesions are a group of tumors, sarcoma-associated herpesvirus (KSHV), implicated in inferior fornix; single lesions may suggest nonviral
including papilloma (Pap), Kaposi's sarcoma (KS), with patients who are HIV-negative and HIV-positive etiology and may extend toward the limbus.
limbal dermoid (LD), sarcoidosis (Sarc), and pyogenic Sarc: Unknown etiology. Suggested causes: KS: Flat or raised, reddish-purple, oval, nontender
granuloma (PG) with a low potential for malignant Environmental toxins, infectious agents, genetic mass, or nodular, well-circumscribed lesion
growtll and a wide variety of etiologies and transmission Sarc: Single or multiple, yellow or salmon colored
management considerations. LD: Unknown nodules. Most commonly on palpebral conjunctiva
EPIDEMIOLOGY PG: Usually due to prior inflammatory condition or of lower cul-de-sac or plica semilunaris
lnddence status post trauma or surgery LD: Yellowish-white oval-shaped, solid mass
Systemic KS: 4-14% in ocular adnexa (1)[C] involving bulbar conjunctiva, typically near the
COMMONLY ASSOCIATED CONDITIONS inferotemporal corneoscleral limbus; may have fine
Ocular KS: 7-18% LD: Goldenhar's syndrome hairs
Ocular Sarc: 7-19% Sarc: Mikulicz's syndrome: Salivary and lacrimal PG: well-vascularized, elevated, red-fleshy mass
RISK FACTORS gland enlargement with keratoconjunctivitis sicca with fibrous stalk
Pap: Mother with positive human papillomavirus Secondary findings for all of the above include
(H PV) history, UV radiation
KS: lmmunocompromised states, including HIV/AIDS,
~ DIAGNOSIS chemosis, mechanical ectropion, superficial
punctuate keratopathy, and corneal dellen.
chemotherapy, organ transplantation, elderly males HISTORY
LD: <18 years of age DIAGNOSTIC TESTS & INTERPRETATION
Pap, KS, LD, Sarc, PG:
Sarc: African American race - often asymptomatic Lab
- mass effect symptoms KS: HIV ELISA, HIV Western Blot, C04
PG: transconjunctival surgical incisions (strabismus, Sarc: Angiotensin-converting enzyme, calcium,
-foreign body sensation
retinal surgery), trauma (2)[8] magnesium, phosphorous
-itching
Geneffa -tearing Imaging
Sarc: HLA-Bw15, HLA-88, HLA-813 -mucous Sarc: Chest X-ray
PATHOPHYSIOLOGY -ptosis
- photophobia Diagnostic Procedures/Other
Pap: HPV. a double-stranded DNA virus transmitted Slit lamp, dilated fundus examination, tonometry
via direct contact, often through passage of infected - blurry vision
-swelling Pap, KS, Sarc, PG: incisional or excisional biopsy, if
birth canal leading to proliferation of fibrovascular suspicious for malignancy
connective tissue, acanthosis, and hyperkeratosis -trichiasis
- poor lid apposition LD: Depth of corneal involvement can be evaluated
KS: Dysregulated inflammatory cytokine response with ultrasound biomicroscopy (UBM). Examine
- cosmetic effects
due to human herpesvirus-a patient for signs and symptoms of Goldenhar's
KS: Immune status
LD: Congenital choristomatous changes due to an syndrome, including preauricular skin appendages,
unknown process; classified based upon the extent Sarc: Lung and skin nodules, dyspnea, cough
hearing loss, lid coloboma, and nasa-oro-vertebral
of anterior segment involvement malaise, fatigue, lymphadenopathy
anomalies (4)[C].
Sarc: Inflammatory hyperactivity due to dysregulated LD: < 18 years of age, enlarging since birth,
cytokine responses following an antigenic stimulus especially after puberty
PG: Proliferative fibrovascular and inflammatory PG: History of surgery, inflammatory condition
response usually secondary to aberrant wound
healing
102
BENIGN CONJUNCnYAL LESIONS
Pap: Multiple brandllng fronds with a flbrovascular
core lined by thickened, acanthotic, squamous
epitheIium with or without koilocytOSis
KS: Thin, dilated, endothelial-lined vascular channels
surrounded by spindle cells and inflammatory
. TREATMENT
MEDICATION
FlrstUne
Pap: Observation for spontaneous resolution
(f) ONGOING CARE
FOLLOW-UP RECOMMENDATlONS
Outpatient care fur periodic observation of lesions
and surgical excision of benign conjunctival masses
I
;
reaction LD: Topical lubrication, removal of irritating hairs Inpatient care for systemic management of
LD: Conjunctival epithelium with epidermal complicating Illness
appendages suiTounding simple choristomatous KS: Highly active antiretroviral therapy (HAAIU)
(1}[8) PROGNOSIS
tissue induding hair follides. sebaceous glands, Highly favorable prognosis
musde. adipose. teeth, bone, and cartilage Sarc: Topical steroid
Sarc: Noncaseating granulomas PG: Observation for spontaneous resol utlon COMPLICA110NS
PG: Granulation tissue, duonic inflammation, small Lesions may reoccur after excision
Secaml Un. Secondary to surgical excision, Including scaring,
blood vessels Pap: Topical irrterferon-alpha-2b, mitomycin C, oral infection, bleeding, blindness
DIFFERENnAL DIAGNOSIS dmetidine (3)[C]
LD: Refractive error; cornea may remain opacified
Pap: Conjunctival intraepithelial neoplasia, KS: Local chemotherapy (vinblastine and vincristine), from sear after surgery
squamous cell can:i noma, amelanotic melanoma, low dose radiotherapy, topical Interferon-alpha..
Systemic complications of unde~ying conditions
lymphoma human cho~ogonadotropln
KS: SUbconj unctivaI hemorrhage, PG: Low-dose plaque radiotherapy for recurrent PG
hemanglope~cytoma, pyogenic granuloma, capllla ry (4}[C) REFERENCES
and cavernous hemangioma, lymphoma, malignant ADDmONAL TREATMENT
melanoma, pinguewlitis. bacillary angiomatosis 1. Curtis TH, Durairaj VD. Conjunctival Kaposi
Issues for Refftmll sarcoma as the Initial presentation of human
Sarc: Chalazia, pyogenic granuloma, conjunctival L.D: If clinically suspldous for Goldenhar's ~drome,
intraepithelial neoplasia, mycobacterial infections, Immunodeficiency virus Infectlon. Ophrha/ PIart
consult ped iatridan with genetics specialty Reconstt Surg 2005;21:314-315.
fungal Infection, foreign body granuloma, papilloma
DL.: Pterygium, pinguecula, juvenile SURGERY/OTHER PROCEDURES 2. Ferry AP. Pyogenic granulomas of the eye and
xanthogranuloma, staphyloma, foreign body Pap: Excisional biopsy with or without cryotherapy if ocular adnexa: A study of 100 cases. Trans Am
reaction, sclerocornea symptomatic, or If concern for mallgnancy 0/ilthalmol Sac 1989;87:327-347.
PG: Foreign body granuloma, chalazion, sarcoidosis, KS: Surgical excision, If refractory to HAART, with 3. Tseng SH. Conjunctival papilloma. Ophrhalmolagy
papilloma, lymphoma 1-2 mm margins 2009;116:1013.
LD: Superficial sderok:eratectorny with or without 4. Shields CL, Shields JA. Tumors of the conjunctiva
lamellar graft and cornea. SuN O{illha/mo/2004;49:3-24.
Sarc: Surgical excision, if symptomatic
PG: Surgical excision, if symptomatic ADDITIONAL READING
Mannis MJ, Macsai MS, Huntley AC. Eye and Skin
Disease. Philadelphia: Lippincott-Raven Publishers,
1996.
CODES
ICD!f
224.3 Benign neoplasm of conjunctiva
CLINICAL PEARLS
ExcisionaI biopsy should be considered for
papillomatous changes to rule out squamous cell
carcinoma and for sarcoidosis to rule out
lymphoprollferatlve disease.
Clinical evidence of Kaposi sarcoma mandates
initiation/optimization of HAART.
Excision of limbal dermoid with lamellar graft can
give excellent cosmetic nesults, but may not lessen
Induced astigmatism.
103
BEST'S VITELLIFORM MACUlAR DYSTROPHY
Alok S. Bansal
Marc Spirn
~ BASICS
PATHOPHYSIOLOGY NOTE: There may be great variation in lesion
Bestrophin-1 is a transmembrane protein located on appearance between patients, between the two
the basolateral membrane of the RPE cell that eyes of the same patient, and even within the same
DESCRIPTION functions as a ca2+ -activated cl- channel. eye of a patient over time.
Best's disease (vitelliform macular dystrophy) is a The abnormal bestrophin-1 protein causes impaired Patients may not progress through all stages of
rare, autosomal dominant, bilateral, central retinal ion transport across the RPE leading to disease.
dystrophy. accumulation of lipofuscin between the
It is caused by mutations in the BEST1 (formerly DIAGNOSTIC TESTS & INTERPRETATION
neurosensory retina and the RPE (1)]C].
VMD2) gene on chromosome 11q13 that encodes Lab
the bestrophin-1 protein. ETIOLOGY Genetic testing for BEST! gene mutations
Mutations in BEST1 gene
Age of onset is variable, although most commonly Imaging
presents in early teenage years. COMMONLY ASSOCIATED CONDITIONS Fundus photography to document progression of
It is clinically characterized by a classic yellow, Best's disease is not associated with any systemic vitelliform lesions
egg-yolk" (i.e., vitelliform), appearance in the conditions. Fundus fluorescein angiography (FFA):
central macula between the neurosensory retina and - Hypofluorescence due to blockage from vitelliform
the retinal pigment epithelium (RPE).
Visual function tests demonstrate a normal full-field
~ DIAGNOSIS lesions
- Hyperfluorescence due to either window defects
electroretinogram (ERG) coupled with an abnormal HISTORY from RPE atrophy or leakage from choroidal
electrooculogram (EOG). Family history of retinal dystrophy neovascularization (if present)
EPIDEMIOLOGY Blurry vision Fourier-domain optical coherence tomography
Metamorphopsia (FD-OCT):
Due to the rarity and variable expressivity of the
-Thickened hyper-reflective band between
disease, the true incidence or prevalence is unknown. PHYSICAL EXAM photoreceptor outer segments and RPE/Bruch's
RISK FACTORS Normal ocular anterior segment complex (3)[CI
Family history of Best's disease Classic fundus findings include bilateral egg-yolk" Fundus autofluorescence (FAF):
(i.e., vitelliform) lesions in central macula. - Hyper-autofluorescence of vitelliform lesions (3)]C]
Genetics
Autosomal dominant Previously characterized by the following stages
(2)]C]:
BEST! gene on chromosome 11 q13 encodes the
- Stage 0: Normal fundus or subtle RPE changes
bestrophin-1 protein
-Stage 1: Definite RPE changes
Multiple different mutations (> 100) responsible for - Stage 2 (vitelliform stage): Classic yellow
variable expressivity and genotype-phenotype egg-yolk." lesion
correlations (1 )[AI - Stage 2a (scrambled-egg or vitelliruptive stage):
Multiple irregular yellow subretinal deposits
- Stage 3 (pseudohypopyon stage): Layering of
yellowish material in vitelliform cyst
- Stage 4a (atrophic stage): Absence of yellow
deposits leaving atrophic RPE
-Stage 4b (Cicatricial stage): White fibrous
subretinal scar
- Stage 4c (Choroidal neovascularization stage):
Subretinal hemorrhage, serous retinal detachment
104
BESrS YITELLIFORM MACULAR DYSTROPHY
Dlagnostlc PtoCIHiuresiOther ADDITIONAL READING
I
Full-fleld electroretinogram (ERG): Measures total ONGOING CARE
photoreceptOr (rod and cone) function: Gass JD. HeredodystrophIt disorders affect!ng the
-Characteristically flC1I1TiaJ in Best's disease FOLLOW-UP RECOMMENDATIONS pigment epithelium and retina. In Gass JD (ed.),
Electrooculogram (EOG): Measures standing Serial fundus ophthal mosccpy with retina spedaIist Stereoscope atlas of macular diseases: Diagnosis
potentiaI af RPE: Low vision aids for decreased vision and treatment. St.Louis: CV Mosby, 1997:304-325.
-Characteristically abnotmal in Best's disease even PATlENT EDUCATION
in the absenc:e of fundus findings Genetic counseling for family members af affected
Arden ratio (light pea kidark. trough ratio): patients . CODES
-Normal = 1.8; Best's disease < 1.5
PROGNOSIS ICD9
Pathological Findings Most patients retain 20/40 or better vision (2)[C].
Accum ulatlon af lipofuscin In RPE cells 362.70 Hereditary retinal dystrophy, unspecified
COMPLICATIONS 362.76 Dystrophies primarily involving the retinal
DIFFEREN11AL DIAGNOSIS Choroidal neovascularization pigment epithelium
Adult-onset vitelliform dystrophy
Pattern dystrophy
Age-related macuIar degeneration REFERENCES CLINICAL PEARLS
Choroidal neovascularizalion 1. Boon c. Klevenng BJ, Leroy BP, et al. The spectrum
rJ TREATMENT
MEDICATION
at ocular phenotypes caused by mutations in the
BEST1 gene. Prog Retin fye Res 2009;28:1 B7-205.
2. Mohler CV, Fine SL. Long-term evaluation a!
patients with Best's vitelliform dystrophy.
Best's disease is a rare. autosomal dominant,
bilateral, central retinal dystrophy that presents In
the early teenage years.
Classic ophthalmoscopic findings indude a yellow
"egg-yolk" appearance in the central macula.
No mediiJII treatment is indicated for patients with Ophtha/mo/ 1981 ;88:688-692.
Normal ERG with an abnormal EOG
Best's disease. 3. Ferrara DC, Costa RA. Tsang S, et at. Multimodal Highly variable expressivity
fundus imaging in Best vitelliform macular
SURGERY/OTliER PROCEDURES Most patients retain good vision.
For cases complicated by choroidaI
dystrophy. Graefes Arch COn fxp Ophtha/ 201 0
neovasrularization, consider: 4. Andrade RE, Farah ME, Costa RA. Photodynamic
-Photodynamic therapy (4J[CJ therapy with verteporfln for subfoveal choroidal
- lntravitreaI anti-VEG Fagents (i.e., bevacizumab) neovascularization in Best's disease. Am J
(S)[C) Ophtha/mo/ 2003;136:1 179-1181 .
5. Rishi E. Rishi P, Mahajan S.lntravitreal
bevadzumab for charoidaI neovascular membrane
associated with Best's vitelliform dystrophy. Indian
J Ophtha/mo/2010;58:16Q-162.
105
BIRDSHOT CHORIORETINOPATHY
Andre J. Witkin
Sunir J. Garg
Electroretinograms (ERG) are often abnormal,
typically showing a decrease in both photopic and
scotopic amplitudes; Initially, B-wave may be
DESCRIPTION HISTORY affected more than the A-wave.
Chronic, bilateral, posterior uveitis Gradual, painless vision loss Peripheral visual field testing may show constriction.
The characteristic lesions are yellow-white spots at Floaters are common.
Follow-up It special considerations
the level ofthe choroid that radiate from the optic Symptoms are usually bilateral. FA useful to monitor amount of inflammation and to
ne.ve. Nyctalopia, peripheral visual field constriction, follow response to therapy
Over 90% of patients are HLA-A29 positive. abnormal color vision. photopsias. and photophobia OCT useful to evaluate patients for macular edema,
may also occur. and for evaluating response to treatment
EPIDEMIOLOGY
Incidence PHYSICAL EXAM Pathological Findings
Very rare eye disease The eyes are usually painless and appear white and There are limited reports in the literature; however,
noninflamed. lymphocytic aggregates in the choroid and retinal
Prevalence The anterior segment has no to mild inflammation.
In the population, it affects <1/200,000 vasculature have been noted.
A mild to moderate diffuse vitreitis is common.
It affects 1% of patients in uveitis clinics and 5-7% DIFFERENTIAL DIAGNOSIS
of all patients with posterior uveitis. The characteristic lesions are cream colored
White dot syndromes (acute posterior multifocal
hypopigmented spots in the choroid with relatively
placoid pigment epitheliopathy, multifocal
RISK FACTORS indistinct borders. choroiditis and panuveitis, multiple evanescent
Most common in Caucasian patients These lesions are suggestive of scattering of white dot syndrome, AZOOR)
Equal male/female distribution "birdshot from a shotgun.
Infectious posterior uveitis (tuberculosis, syphilis.
Mean age of onset ~50 years old The choroidal spots may not appear until later in the and presumed ocular histoplasmosis syndrome)
Genetics disease course, delaying diagnosis.
Masquerade syndromes (leukemia and ocular
No strong familial association (although disease has Cystoid macular edema (CM E) is a common cause of lymphoma)
been reported in monozygotic twins) decreased visual acuity.
Sarcoidosis
Very strong association with HLA-A29 allele
(birdshot has the highest association between HLA
class I alleles and any disease)
90% of patients with disease have HLA-A29
Retinal vasculitis involving veins and arteries is
sometimes seen, as is optic disc edema.
Lab
rJ TREATMENT
MEDICATION
compared with 7% of general population. None are absolutely required for diagnosis; however, First Line
GENERAL PREVENTION HLA-A29 is a reliable marker of disease (~95% Ocular and systemic steroids have been the
None specificity and sensitivity). mainstay of therapy; however, the typical chronicity
Must rule out other treatable causes of posterior ofthis disease warrants consideration of
PATHOPHYSIOLOGY uveitis, including syphilis, tuberculosis, Iyme disease,
Likely autoimmune process nonsteroidal immunomodulatory therapy early in the
ocular lymphoma, and sarcoidosis. disease course.
Some similarities between birdshot and murine
models of retinal S-antigen-induced uveitis Imaging Dramatic improvement of ocular inflammation can
Initial approach often be seen with systemic steroids (prednisone
EnOLOGY Fluorescein angiography (FA) shows early 1 mg/kg per day); however, long-term toxicity of
Autoimmunity, likely involving type IV hypersensitivity hypofluorescence and late hyperfluorescence of steroids limits this approach.
COMMONLY ASSOCIATED CONDITIONS choroidal lesions, as well as hyperfl uorescence of Cyclosporine, mycophenolate mofetil, azathioprine,
None known the disk. vascular leakage, and CME (when present). cyclophosphamide, and methotrexate have all been
lndocyanine green angiography (ICGA) often used as nonsteroidal imm unomodulatory therapies.
demonstrates more lesions than seen on either Second Line
clinical exam or FA. ICG shows early Periocular and intravitreal triamcinolone acetate has
hypofluorescence of choroidal lesions. been used to treat severe inflammation and/or
Optical coherence tomography (OCT) can be useful macular edema.
to detect macular edema. More recently, use of antitumor necrosis factor
alpha drugs and intravenous immunoglobulin has
been reported.
106
BIRDSHDT CHDRIOREnNDPATHY
Issues for Refeml
Management of blrclshot retlnod1oroldopathy often
requires referral to a uveitis and/or retina specialist
PATIENT EDUCATION
Patients should be aware of the chronic progressive
nawre of blrdshot d"torloretlnopathy, and the
assodated need for dose monitoring and long-term
Monnet D, Br~zin AP. Birdshot chorioretinopathy.
Curr Opln Ophrha/mol 2006;17(6):54s-550.
Kiss S, Anzaar F, Foster SC. Birdshot
retinochoroidopathy./nt Ophtha/mo/ Clin
I
,
1
ConsuItalion with a rheumatologist or hema!Diogist treatment of the disease. 2006;46(2):3 9-55.

may be required when immunomodula!Dry agents Patients should also be aware that a variety of Shah KH, Levinson RD, Yu F, et al. Birdshot
are used. immunomodulatory treatments are avai table, and chorioretinopathy. SUIV Ophtha/mo/200 5;50(6):
not be dlsoouraged If one treatment modality Is 519--541.
SURGERY/OTHER PROCEDURES insufficient to treat their disease.
As with other typeS of oaJiar Inflammation, cataract
fonnation may be acc:elerated in patients with PROGNOSIS
birdshot; calilract surgery is best delayed until the Because of the d1ronic progressive nature of the . CODES
patient is free of inflammation for at least 3 months. disease, visuaI prognosis is guarded over time.
Patients often need ID be treated with ICD9
Glaucoma filtration or shunting surgery may be
req ulred In some patients with uncontrolled lmmunomodulatory agents that have side effects. 363.20 Cho~oretlnltls, unspedfled
glaucoma. Visual function can often be impaired to a greater
In the near future. implantable drug delivery devices extent than the visual acuity indicates. CLINICAL PEARLS
may play a major role in the treatment of this COMPUCATIONS
disease. CMEIs the most com man cause of decreased visual Chronic, progressive, bilateral posterior uveitis
arulty. Characteristic peripapillary choroidal lesions and
Epiretinal membranes (E RM) are also oommon. associated vitreitis are usually present. Choroidal
Initial Stillbilization lesions are often delayed in onset.
Pulse intravenous steroids may be oonsidered in severe Glaucoma may be seen in up to 20% of patients
and is likely a secondary effect from systemic and Very strong association with HLA-A29
cases with profound bi latE!"aI vision loss.
ocular steroid treatments. Common cause of decreased visual aruity is cystOid
Choroidal neowscular membranes (C NVM) can macular edema.
ONGOING CARE occur in areas of chronic choroidal inflammalion. Eleclrol'etinograms are usually abnormal.
Retinal neovasa..llarization is uncommon, but can Patients are often initially responsive to steroids but
FOLLOW-UP RECOM MENDAllONS often requl re maintenance with nonsteroidal
The Cllllrse of blrdshot Is often progressive over a result from retina I vaswlar inflammation and
secondary retina I ischemia. immunomodulatory agents.
number of years. with intenninent exacernations of
disease activity; therefore, patients should be Optic nerve atrophy Is rare, but has been reported.
monilnred closely by a specialist familiar with the
treatment of the disease.
ADDITIONAL READING
Patient Monitoring
VIsual acuity may be normal until late In the disease Ryan SJ, Maumenee AE. 8irclshot retinochoroido-
course. pathy. Am J Ophtha/mol1980;89(1 ):31-45.
Careful biomicrosoopic examination should be lap A. Chee SP.Immunosuppressive therapy for
undertaken at regular intervals. ocular diseases. curr Opin Ophtha/mol 2008;19{6):
Andllary testing sud1 as FA, ICGA, OCT, peripheral 535-540.
visual fleld testing and ERG testing should also be
taken at regular intervals to monitor disease activity.
107
BIRTH TRAUMA TO THE EYE
Sumit P. Shah

One can consider caesarean section as an
alternative to vaginal deliveries when there is a high
~ DIAGNOSIS
DESCRIPTION risk for the need for obstetric instrumentation. PHYSICAL EXAM
Birth trauma to the eye is a result of ocular, adnexal, - Does not guarantee an injury free birtll and can Pertinent features of birth trauma relating to
or facial injuries due to mechanical forces during pose different or additional risks to the newborn ophthalmic involvement include:
childbirth. and mother. -Vertical or oblique breaks in Descemet's
membrane of the cornea due to forceps injury at
EPIDEMIOLOGY PATHOPHYSIOLOGY birth
Incidence Visual deprivation in affected eye due to amblyogenic -Asymmetric red reflex
6-8 injuries (ophthalmic and nonophthalmic) per insult such as irregular astigmatism or ptosis - Eyelid soft tissue ecchymosis. abrasions. or
1000 live births ETIOLOGY lacerations
2% of neonatal deaths and still births are due to Primary trauma to the eye or ocular adnexa - Conjunctival chemosis
traumatic injury at the time of birtll Secondary ocular injury due to central neiVous - Subconjunctival hemorrhage
system, cranial neiVe, vascular. or facial bone injuries - Retinal hemorrhage can be seen in the setting of
RISK FACTORS
head injury during delivery such as intracranial
Large baby size: COMMONLY ASSOCIATED CONDITIONS hemorrhage or skull fracture. This may result from
- Especially >4500 g Midcavity forceps instrument assisted deliveries.
- May be seen in a mother with gestational diabetes - Cranial neiVe exam: Facial neiVe palsy suggested
Vacuum extraction
Instrument assisted deliveries: by inability to close the eyelid on the affected side
- Forceps and vacuum assisted Fetal macrosomia
Abnonmal presentation or facial asymmetry during crying.
-Abnormal or excessive traction during delivery - Ptosis may result due to multiple underlying
Prolonged labor: Prolonged labor
causes including: (1) mechanical, i.e., soft tissue
- Use of induction medications to promote stronger ecchymosis; (2) neurologic, i.e., injury to
contractions sympathetic chain or cranial neiVe Ill; (3)
-Vaginal breech delivery aponeurotic ptosis, i.e., traumatic levator
- Cephalopelvic disproportion (when a baby's head dehiscence.
or body is too big to fit through the mother's
pelvis), maternal pelvic abnormalities
-Oligohydramnios (deficiency of amniotic fluid)
108
BIRTH TRAUMA TO THE EYE
DIAGNOSnC TESTS & INTERPRETAnON

Imaging
Initial approad!
Consider neuroimaging if neurologic symp!Dms are
present
. TREATMENT
ADDmONAL TllEATMENT
Genetal Measures
(f) ONGOING CARE
FOLLOWUP RECOMMENDAOONS
Early pediatric ophthalmology referral for eViiluation
and treatment of amblyogenic conditions
I
;
Folluwup &: spedal considerations Directed to the underlying diagnosis:

- Descemet's tear: Can result In corneal hydrops Frequency dictated by underlying condition
Consultation with a pediatric aphtha lmologist
(edema and cloud Ing). Generally resolves wltl11n PROGNOSIS
Patltologkal Findings weeks with obseM.tion alone. Monitor for corneal
Histologic examInation of corneal birth trauma Excellent if amblyogen ic causes are detected and
scarring and visual deprivation. treated early
typically reveals vertical or oblique breaks in -Abrasions and lacerations: Careful cleaning.
Descemet's membrane. COMPLICAnON5
application of antibiotic ointment. and
DIFFERENnAL DIAGNOSIS observation. Sterl-strlps may be used or Amblyopia due to visual deprivation
Corneal trauma with or without Descemet's lacerations may require suturing. Lacerations Ptosis
membrane tear involving the canalicular system (for tear drainage) Exposure keratopathy
Corneal abrasion warrant consu Italian with an oculoplastics
Conjunctival chemosis or laceration spedalist for surgical reconstruction and repair
- Facial neM! palsy: Managernent consists of ADDITIONAL READING
SubconjunctiVill hemorrhage
Eyelid laceration prevent! ng exposure keratitis by protectl ng the Moczygemba CK. Paramsothy P, Meikle s. et al.
open eye with frequent lubrication with ointment Route of delivery and neonatal birth trauma. Am 1
Cranial nerve Injury affecting eyelid function and artifidal tears. and if necessary, Iimited Obstet Gyneco/201 0.
patching.
- Ptosis: Di reeled to the under1ying cause initially.
Sdlulllnger JN. Birth trauma. Ped/Jtr Clln North Am
1993;~(6):1351-1358.
various surgical techniques can be utilized In order
to prevent depriViltion or refractive amblyopia.
. CODES
ICD9
371.33 Rupture in descemet's membrane
772.8 Other spedfied hemorrhage of fetus or
nev.tlorn
767.8 Other spedfied birth trauma
CLINICAL PEARLS
Breaks in Descemet's membrane may rt!sult from
forceps injury.
Frequent OQIIar Iubrication to prevent exposure
keratitis Is a must In cases af facial neM! ln]u ry.
Monitor babies for amblyopia; visual prognosis Is
generally excellent.
109
Bl.EBITIS
Justin M. Spaulding
Scott J. Fudemberg
~ BASICS
PATHOPHYSIOLOGY DIAGNOSTIC TESTS & INTERPRETATION
Early-onset BAE: Likely introduction of normal flora Lab
during surgery Initial lab tests
DESCRIPTION Late-onset BAE: Likely penetration of bleb by Gonioscopy may be needed to identify
Presumed infection in or around filtering bleb. transiently present organisms through area of microhypopyon.
Filtering bleb is a subconjunctival pocket of fluid unhealthy tissue or bleb leak B-scan ultrasound of vitreous is needed if view is
created intentionally in glaucoma surgery to drain obscured by anterior segment inflammation.
aqueous humor or inadvertently after other types of ETIOLOGY
Blebitis: Most studies report Staphylococcus Utility of conjunctival cultures may be limited: If
eye surgery: frank. purulent material consider swab for gram
- Classification: Blebitis (no vitreous involvement) epidermidis and 5. aureus.
Early-onset BAE: Most studies reportS. epidermidis stain, culturefsensitivities.
and bleb-associated endophthalmitis (BAE)
and S. aureus. Anterior chamber tap may be used to collect sample
(vitreous involvement)
Late-onset BAE: Strep species most commonly for gram stain and culture/sensitivity, but we
- BAE: Early-onset (within 1 month of surgery) and
reported, followed by Haemophilus influenzae and generally favor low threshold for vitreous tap/inject.
lateonset (occurs more than 1 month after
surgery) gram negatives. Follow-up & special considerations
Organisms that cause late-onset BAE are more Early diagnosis, prompt treatment, and very dose
EPIDEMIOLOGY virulent produce exotoxins, may penetrate intact follow-up are critical because progression of blebitis
lnddence conjunctiva, may rapidly spread into anterior to BAE and BAE to devastating outcomes may be
After superiorly located trabeculectomy with chamber and vitreous. rapid.
mitomycin c Follow-up of blebitis may be daily with low
Blebitis: 5.7% (1) COMMONLY ASSOCIATED CONDITIONS threshold for multiple exams per day.
Conjunctivitis, uveitis, bleb leak, glaucoma
Early-onset BAE: 0.124% Follow-up of BAE may be multiple times per day
Late-onset BAE: O.B-4% with low threshold for hospital admission.
RISK FACTORS ~ DIAGNOSIS There is no formally established protocol for
follow-up of these conditions.
Inferior bleb HISTORY
Thin bleb Typically, late-onset BAE causes sudden onset red Pathological Findings
Bleb lea~ eye followed by photophobia, eye pain, discharge, Thin (1-2 layer) conjunctival epithelium (4)[B]
Antifibrotic agents (mitomycin c. 5-fluorouracil) and decreased vision: Goblet cell depletion resulting in decreased
Major complications in early postoperative period - Prodrome in blebitis may be of several days or production of mucin, which is a crucial
following trabeculectomy (flat anterior chamber, longer while in BAE may progress very rapidly over biologicalfphysical barrier of the cornea and
early wound leak. suprachoroidal hemorrhage) course of hours to devastating infection. conjunctiva (4)[8]
Prior conjunctivitis/upper respiratory infection PHYSICAL EXAM Presence of hyalin in bleb (4)[8]
Blepharitis Conjunctival injection localized to area of bleb DIFFERENTIAL DIAGNOSIS
History of prior bleb infection (though may progress to diffuse injection) Endophthalmitis (not bleb-associated)
Chronic use of antibiotics Milky, turbid appearance of bleb Uveitis
Bleb manipulation Frank purulent material in or leaking from bleb Scleritis
Multiple filtration surgeries Bleb leak (may resolve during the course of infection Episcleritis
Geneffa as a result of scarring andfor blocking of leak. with Sterile inflammatory response (intraocular foreign
Many forms of glaucoma are hereditary, but debris)
body, surgical manipulation, intraocular injection)
predisposition to bleb-related infection is not known Inflammatory cells in the anterior chamber (blebitis)
to be genetic. Inflammatory cells in the vitreous (key differentiating
feature between blebitis and BAE)
GENERAL PREVENTION
Surgical techniques that promote low diffuse blebs Hypopyon in the presence of signs of external bleb
and minimize highly elevated, avascular, thin blebs infection is endophthalmitis until proven otherwise.
Rapid diagnosis and management of bleb leak.s
Avoidance of eye rubbing in eyes with bleb
Treatment of blepharitis in eyes with bleb
Avoid chronic use of topical antibiotic drops
110
BLEBITIS
I
. TREATMENT VItreous tap/Inject and vltrectorny should be strongly
considered In all patients with BAE. 1. AhChan JJ, Molteno ACB, Bevin TH. Anti
MEDICATION Results of the Endophthalmitis Vrtrettomy Study inflammatory fibrosis suppression in threatened
RrstLine may not be extrapolated to included patients with trabeculectomy bleb fai Iure. Arch O!ilthalmo/
BAE, which may pt"ogress more rapidly than 2006;124:603.
s-so
Blebltls: Fortlfled vancomycin (2 mglmL) and lall!-illlset postcataract endophthalmilis. 2. Kernt M, Kamplk M. EndopthalmiUs: Pathogenesis,
tobramycln (14 mglmLJ or cefazolln (50 mgfml.); Addltlona I glaucoma surgery ID control Intraocular dlnlcal presentation, management, and perspec
apply alternating topical drops every half hour pressure may be needed following blebitis/BAE tives. C/inicil O!iltfliilmo/agy 2010;121-135.
post loading dose (1 drop every 5 min lor a total of because subsequent filtration fai Iure is mmmon. 3. Hariprasad SM, Shah GK,. Mieler WF, et al. VItreous
4 drops} (2}[A] (S)[A]. and aqueous penetration of orally administered
BAE: lntravitreal administration of vancornyd n IN-PATIENT CONSIDERATIONS moxifloxadn in humans. Arch O{ilthalmoJ 2006;
(1 mgf0.1 mL) and cefta:zldlme (2.25 mgf0.1 ml.) Admission Criteria 124:17&-182.
(2)[A] (S] [A]. Low threshold for admission In patients who progress 4. Matsuo H, TomIta G, Arale M, et aI.
BAE Of intolerant to ceftazidime): lntravitreal rapidly and In those patients who are noncompliant or Histopathological findings in filtering blebs with
administration of vancomycin (1 mg/0.1 ml) and likely unable to follow intense regimen of medication rerurrent blebitis. Br J O(iltha/mo/ 2002;86:827.
amilcacin (OA mg!O.1 ml) (keep in mind the use of administration 5. Prasad N, Lali na MA. Blebilis and endophthalmitis
an aminoglycoside such as amilcadn that can cause after glaucoma filtering surgery./nternat/ona/
macular Infarction and should be used cautiously) O!ilthalmo/ Clinks 2007;47(2):85-97.
(2)[A] (S] [A]. $ ONGOING CARE
lntravitreal antibiotics may be repeated every FOLLOW-UP RECOMMENDATIONS
48-72 h. No fimnly established and generalizable guidelines ADDITIONAL READING
Close lollowup guided by dn:umstances of
Use of steroids may be needed to control infection and recovery Ba'arah BT, Smiddy WE. Bleb-related
inflammation, but should be used with great caution endophthalmitis: Clinical presentation, isolates,
(l)[C] (2)[A]. PATIENT EDUCATION treatment and visual outmme of rulture-prnven
Second Una Signs and symptOms of infection including redness, cases. Middle EastAfrJ O{ilthalmoi20D9;1 :2Q-24.
discomfort, and blurred vision should be detailed Sharan S, Trope Ci E, Chlpman M, et aI. Late-onset
For mild blebitis only: Fourth-generation with patient bleb Infections: Prevalence and risk factors.
fluoroqulnolones (gatlfloxac:ln 0.3% or moxlfloxacln o Patient should be instructed to rerum immediately Canadian J O!ilthalmo/ 2009;44:279-283.
0.5%) apply topical drops every hour post loading lor development or worsening of these symptoms.
dose (2)[A) (S)[A]
PROGNOSIS
ADDITlONAL 111.EATMENT Blebitis due to Staphylococcus species has a good . CODES
General Measures prognosis with lull resolution and decreasing
0 rill concentrations of fl uoroquinolones dlances of evolution into endophthalmilis. ICD9
o BAE has poor prognosis despite aggressive medical 379.63 Inflammation (infection) of postprocedurill
(moxifloxadn 400 mg per day) reach significantly
higher intravitreal concentrations than the topical Intervention and flnal visual acuity Is often 201200 bleb, stage 3
counterpart; therefore. these drugs can be used as or less. 379.99 Other ill-defined disorders of eye
an adjunct to current therapy and as a pt'oph)iaxis COMPUCATlONS
for vitreous lnvoM!ment (3)[8]. Bleb fai Iure
With bleb leak or low intraocular pressure: No eye Pain
rubbing, shield when sleeping (or at all times except VIsion loss
when taking eyedrops in those that cannot avoid Blurred vision
physical contact with the eye), no bending, no Loss of eye
straining. o Elevated int111ocula r pressure
Worsening signs/symptoms should prompt
Growth of more virulent/resistant infecting
immediate re-eYa luation (redness, blurred vision, organisms
dismmfort, tearing).
Conjunctival scarring
Issues for Refel'l'81 lntlllocular scarring (sudl as posterior synechiae.
II blebitis is suspected immediately refer patient ID an peripheral anterior synechiae)
ophthalmologist. o Cataract
Re1inal detachment
111
BLEPHARITIS
Melvin I. Roat
Seborrheic blepharitis: The anterior eyelid epidermis
shows acanthosis. hyperkeratosis, and/or
DESCRIPTION HISTORY parakeratosis; lymphocyte and plasma cell infiltrate.
Chronic, recurrent inflammation of the eyelid margin Itching and burning of the eyelid margins. Redness Meibomian gland dysfunction: Obstruction,
Synonyms: of the eyelid margin and conjunctiva. Symptoms dilatation with squamous metaplasia and abnormal
- Seborrheic blepharitis: Anterior blepharitis, fluctuate through the day and through the weeks. keratinization of ducts, enlargement of acini with
granulated eyelids Many patients are symptomatic of an evaporative cystic degeneration and an inflammatory cell
- Meibomian gland dysfunction: Posterior dry eye (see topic Dry Eye Syndrome).
infiltrate.
blepharitis, ocular rosacea, meibomianitis Patients with seborrheic blepharitis also complain of
large flakes of skin at the base of the eyelashes. DIFFERENTIAL DIAGNOSIS
EPIDEMIOLOGY Patients with meibomian gland dysfunction also Acute bacterial ulcerative blepharitis (usually
Prevalence complain of rounded, protruding, creamy-hard Staph)fococcus aurevs), acute viral blepharitis (herpes
Common, 37--47% of patients in an ophthalmology or whit~ellow deposits at the eyelid margin just simplex or herpes zoster)
optometry practice posterior to the eye lashes.
RISK FACTORS
More common in Caucasian from Northern Europe,
PHYSICAL EXAM
Seborrheic blepharitis: Large scales of skin form at
fl TREATMENT
but found in all races the anterior eyelid margin, hyperemia of the anterior MEDICATION
Genetia eyelid margin, debris in the tear film, inferior First Line
More common if parents had blepharitis punctate keratitis. Seborrheic blepharitis: If the primary treatment of
Meibomian gland dysfunction: White-yellow eyelash scrubs, i.e., gently cleaning the base of the
PATHOPHYSIOLOGY viscous-waxy plugs in meibomian gland orifices, eyelashes with a cotton swab dipped in a dilute
Seborrheic blepharitis: Large scales of skin form at solution of baby shampoo (e.g., 2-3 drops in ~2 cup
hyperemia of the entire eyelid margin, eyelid margin
the surface of the anterior eyelid margin. Secondary of hot water) b.i.d., is insufficient, an antibiotic
vessels crossing the gray line, appearance of a thin
bacteria colonization of the area leads to ointment q. h.s. can be used. The antibiotic should
lipid layer of the tear film, inferior punctate keratitis.
inflammation. be chosen based on eyelid culture results. Treatment
There may also be associated chalazia and skin
Meibomian gland dysfunction: An abnormal findings of acne rosacea. with topical antibiotics may need to be used
composition of the meibomian gland lipid secretion continuously for up to 3 months and may be needed
leads to inflammation. DIAGNOSTIC TESTS & INTERPRETATION recurrently.
ETIOLOGY
Lab Meibomian gland dysfunction: If the primary
Seborrheic blepharitis: Bacteria can be cultured from treatment of ocular hot compresses. i.e., gel or bead
Seborrheic blepharitis: Tends to be inherited and
the eyelid margin. Small quantities and usually filled microwaveable hot compresses (not wash
may be due to colonization of the eyelid margin skin
nonvirulent strains may be significant. cloth hot compresses) 3--4 times per day for
with yeast of the Malassezia genus
Meibomian gland dysfunction: Tends to be inherited 1o- 15 min, is insufficient, an antibiotic topical
azithromycin or oral doxycycline 100 mg b.i.d. may
COMMONLY ASSOCIATED CONDITIONS need to be used recurrently for 3--4 months.
Evaporative dry eye and staphylococcal
hypersensitivity marginal keratitis/ulcers, Pediatric Considerations
phlyctenulosis Doxycycline, tetracycline, and derivatives should not
Seborrheic blepharitis tends to be associated with be used in children <8 years of age.
seborrheic dermatitis. Pregnancy Considerations
Meibomian gland dysfunction tends to be Doxycycline, tetracycline, and derivatives should not
associated with acne rosacea and chalazia. be used in pregnant or nursing mothers.
112
BLEPHARITIS
SacondUna DIET
I
The secondary evaporative dry ~ usually causes A diet high in Omega-3 fatty adds will probably . CODES
more symptoms than the primary sebormelc Improve the symptoms of melbomlan gland
blepharitis or meibomian gland dysfunction. dysfunction. ICD9
Therefore. treating the secondary evaporative dry 370.49 Other keratoconjunctivitis, unspecified
PROGNOSIS
eye results in more symptomatic improvement than Seborrheic blepharitis and meibomian gland 373.00 Blepha~tls, unspecified
treating the blepharitis and is often inslilllted first. 373.12 Hordeolum intemum
dysfunction are lifelong, chronic, recurrent conditions
0 nly If there are unacceptable residual symptoms that will respond well to treatment and then will
after treating the secondary evaporative dry eye,
reoccur. Uncomplicated seborrheic blepharitis and
would the seborrheic blepharitis or meibomian CLINICAL PEARLS
meibomian gland dysfunction have an excellent visual
gland dysfunction be treated. Treatment for the
prognosis with no visual loss expected.
secondary evaporative dry eye can indude Treating the secondary evaporative dry eye may lead
moderately viscous and viscous artifidal tears, COMPUCATlONS to more symptomatic improvement than treating the
puncta! plugs, and topicaI cyclosporin A drops. Evaporative dry eye and staphylococcal hypersensttMty seborrheic blepharitis and meibomian gland
Oral Omega-3 fatty acid dietary supplements, oral marginal keratitis/ulcers, phlyctenulosis are dysfunctlon.
fluconazole, topical azithromycin, rarely topical complications of seborrheic blepharitis and meibomian Use a very dilute solution of baby shampoo for the
steroid drops. and/or ointment should be used very gland dysfunction. Meibomian gland dysfunction can eye lash scrubs.
rarely, because only short-term improvement results, be complicated by chalazia. Do not use eyelash scrubs in meibomian gland
continuous monitoring is required, and severe vision dysfunction.
threaten! ng problems suci1 as glaucoma or steroid Use gel or bead filled microwaveable hot
enhanced herpes simplex keratitis may resuIt ADDITIONAL READING
compresses, wash cloth hot compresses do not stay
Shine WE, McCulley JP, Pandya AG. Minocydine hot enough for long enough and don't wor1t
ONGOING CARE effect on melbomlan gland lipids In melbomIan ttls
patients. Exp Eye Res 2003;76:417-420.
FOLlOW-UP RECOM MENDA110N5 Souchier M, Joffre C, Gregoire s. et al. Changes in
,atlent Monitoring meibornian fatty acids and dinical signs in patients
In seborrheic blepharitis, it can take 2 weeks to with meibomian gland dysfunction after minocydine
know If the eyelash scrubs are helping and 4 weeks treatment. Br J Ophthalmol 2008;92:819-822.
to know if the q.h.s. antibiotic ointments are Jackson WB. Blepharitis: Current strategies for
helping. diagnosis and management. Can 1 Ophtha/mo/
In meibomian gland dysfunction, it can take 2 weeks 2008;43:17D-179.
to know if the ocular hot compresses are helping Macsai MS. The role of Omega-3 dietary
and 4 weeks to know if the doxycyd ine is helping. supplementation in blepharitis and meibomian
gland dysfunction. Trans Am Ophtha/mol Soc
2008;106:336-356.
113
BLEPHAROSPASM AND HEMIFACIAL SPASM
Susan M. Ksiazek
Blepharospasm:
-Two opposing muscle groups. protractors
PHYSICAL EXAM
Blepharospasm:
- Nonvolitional contraction of multiple muscles
DESCRIPTION (orbicularis, corrugator, and procerus) and (both protractors and retractors), not just
lnvol untary closure of both eyelids (blepharospasm) retractors (levator palpebra superioris and orbicularis
or muscles inneM.ted by facial nerve unilaterally frontalis), fire at the same time. - Careful exclusion of ocular causes
(hemifacial spasm): - Sensitization of the trigeminal system via - Observation for other tics which are more brief,
- Blepharospasm: photophobia (2) may involve winking
o Essential (without associated disease) -Theory of ion channelopathy (5) Hemifacial spasm:
o Blepharospasm-oromandibular dystonia or Hemifacial spasm: - Synchronous spasm of multiple facial muscle
Meige syndrome (dystonia of face, jaw, and - Ephaptic transmission ipsilaterally
neck)
o Secondary- due to ocular irritation ETIOLOGY DIAGNOSTIC TESTS & INTERPRETATION
- Hemifacial spasm Hemifacial spasm: Lab
System(s) affected: Nervous; musculoskeletal -Vascular compression of the facial nerve by an MRI brain
abnormal artery MRI/MRA brain with attention to the posterior fossa
EPIDEMIOLOGY - Rarely tumors of the posterior fossa compressing
Predominant age: Middle age (40-60 years) the facial nerve (6) Pathological Findings
Predominant sex: Female > Male (2-4: 1) Abnormal blood vessels: aneurysms, dolichoectasia,
COMMONLY ASSOCIATED CONDITIONS etc.
Incidence Blepharospasm:
2000 cases of blepharospasm diagnosed annually in -Dry eyes DIFFERENTIAL DIAGNOSIS
the USA (1) - Movement disorders, strokes Blepharospasm:
- Ocular myollymia
Prevalence -Associated with lesions of brainstem and basal
1.6-13.3/1 00,000 for blepharospasm
7.4-14.5/100,000 for hemifacial spasm
~ DIAGNOSIS ganglia (Parkinson disease, Huntington disease,
Wilson disease, Creutzfeldt-Jallob disease,
HISTORY progressive external ophthalmoplegia)
RISK FACTORS Blepharospasm (1)[C]
Blepharospasm: - Reflex (due to temporoparietal strokes)
- Increase blinking progresses to involuntary - Ocular (irritative ocular disease, e.g., entropion)
- Head or facial trauma
spasms of eyelids. initially unilateral: -Tardive dyskinesia
- Specific eye disease, e.g., blepharitis and
o Increases in severity and frequency -Facial tics (Tourette syndrome)
keratoconjunctivitis
o Often has ocular irritation - Functional
- Family history of dystonia or tremor (2)
- Cigarette smoking was considered a negative risll History of drug use with tardive dyskinesia - Focal seizures
factor earlier, but not in recent studies (3,4). Hemifacial spasm: Hemifacial spasm:
Hemifacial spasm has no known risk factors. - Involuntary eye closure that progresses over -Tardive dyskinesia
months to years to other facial muscles on the -Myokymia
Geneffa same side -Tics
Most sporadic, yet familial variety with autosomal -Dystonia
dominance and incomplete penetrance in - Functional
blepharospasm
No genetic relationships known with hemifacial
spasm
114
BLEPHAROSPASM AND HEMIFACIAL SPASM
. TREATMENT
MEDICATION
PROGNOSIS
90% improve with botulinum injections
COMPUCATlONS
With microvascular surgery can have fadaI weakness
7. Quagliato EMAB, Carelli EF, Viana MA.
Prospective, random lzed, double-blind study,
comparing borullnum toxins type A Botox and
Prosigne for blepharospasm and hemifadaI spasm
I
,
1
RrstLine treatment. Clin NeuropharmacoJ 2010:33:27-31.

and hearing loss.
Treat underlying etiology in secondary etiologies. 8. Costa J, Espirito-SaniD C, Borges A, et al.
Borulinum toxin type A therapy for blepharospasm
Bowllnum toxin InJection (7)[81 (8)[A]: REFERENCES (Review). Codmme D~ Syst Rev 2005;1:
- Every 3-4 morrths 1-11.
1. Ben Simon GJ, McCann JD. Benign essential 9. Whitney CM. Benign essential blepharospasm
Secot~d Une blepharospasm. lnt Ophtha/rrwl Clin 200 5:45:
0 ral medications (carbamazepi ne, anticholinergics, The Neurologist 2005;11 :193-194.
45-79.
baclofen.. clonazepam, haloperidol):
2. Hallett M, Evionger C, Jankovic J, Stacy M. Update
- Often sedating and not helpfuI
on blepharospasm. Report from the BEBRF ADDITIONAL READING
ADDITlONAL TREATMENT International workshop. Neurology 2008;71:
Issues for Referral 1275-1282. Tan N-C, Chan L-L. Tan E-K. Hemifacial spasm and
Socially upsetting to sight impairment l Defazio G, Martino D, Abbruzzese G, et al. involuntary facial movements. 0 Med J 2002:9 5:
Influence af caffee drinking and dgarette smoking 493-500.
SURGERY/OTHER PROCEDURES on the risk of primary late onset blepharospasom: Jordan DR. Patrlnely JR, Anderson RL, Thlese SM.
Blepharospasm: eo~ldence from a multlcentre case control study. Essential blepharospasm and related dystonias.
- Orbicularis myectomy J Neuro/ Neurosurg Psychiatry. 2007;78:877-879. Surv Ophtha/ma/ 1989;34:123-132.
- Differential section af the fadal nerve Defazio G. Uvrea P. Epicemiology of primary
- Superior cervicaI ganglion block 4. Hall TA. McGwin G, Searcey K. et al. Benign
essential blepharospasm: risk factors with reference blepharospasm. Mov Disord 2002;17:7-12.
Hem tfaclal spasm: ID hemifacial spasm. J NeuroophthaJmol
-Microvascular decompression 2005;25:280-285.
5. Leon -Sa rmieniD FE, Bayona-Prieto J, Gomez J. . CODES
ONGOING CARE Neurophysiology of blepharospasm and multiple
system atrophy: clues ID its pathophysiology. ICD9
FOLLOW-UP RECOMMENDA110N5 Partinsonism and Related DisonJers 2005;11 : 333.81 Blepharospasm
1 month after botul inurn injections 199-201. 351.8 Other facial nerve dlsorders
If well reinjection every 3 months or longer 6. Han 1-B, Chang JH, Chang JW, et al. Un16ual 728.85 Spasm of musde
PA11ENT EDUCATION causes and presentations of hemifacial spasm.
Benign Essential Blepharospasm Research Neurosurgery 2009:65:130-137.
Frundation found ID be helpfuI and other therapies CLINICAL PEARLS
Patient and lam ily fact sheet (9) 8lepharospasm is a diagnosis of exclusion.
Reduce caffee intake Botulinum tnxin is a excellent the111py for both.
Serious neurologic diseases may cause hemifacial
spasm.
115
BUND BABY
Jing Jin

Public health education on preventable childhood
eye disease. Worldwide 50% of childhood blindness
Optic nerve:
- Hypoplasia
-Atrophy
DESCRIPTION is avoidable (4). - Neuropathy
The World Health Organization's classification defines Genetic counseling for families with known genetic Cortical:
blindness as corrected visual acuity of < 20/200 in the eye diseases -Anatomical anomalies
better eye or visual field ~ 10 degrees around the Prenatal care: -Infection
central fixation. - Maternal nutrition and infectious disease - Neurodegenerative diseases
EPIDEMIOLOGY immunization and monitoring -Hypoxic-ischemic encephalopathy
-Avoid exposure to teratogens -Tumor
Incidence
- Decrease premature birth rate -Trauma: Accidental of nonaccidental
0.3/1000 under 5 years old in ltle USA and Canada
(1) - Prenatal ultrasound for congenital ocular Oltler: Nystagmus, high refractive error
anomalies (5)
Globally 0.8/1 000 under 5 years old COMMONLY ASSOCIATED CONDITIONS
Perinatal and neonatal: Infectious diseases: Rubella, toxoplasmosis,
Considerable regional variations are present due to
- Neonatal prophylactic topical antibiotics cytomegalovirus, herpes, syphilis
the difference in biological, environmental, and
- Early diagnosis and management of retinopathy of
socioeconomic factors. Congenital anterior segment anomalies, glaucoma
prematurity
Prevalence and cataract in syndromes
- Early diagnosis and treatment of cataract and
In 2000, it was estimated worldwide that 1.4 million glaucoma Retinal dystrophy associated with syndromes
children were blind (2,3). Childhood: Trauma and infectious disease Optic nerve anomalies associated with midline facial
Worldwide, underprivileged societies have higher prevention and brain anomalies
prevalence of childhood blindness. Metabolic, storage diseases and neurologic diseases
PATHOPHYSIOLOGY may be associated with blindness.
RISK FACTORS Blindness results both from the organic disruption of
Poverty
~ DIAGNOSIS
the visual system (including eye and brain) from
Prenatal: congenital anomaly or disease and from deprivation of
- Family history of hereditary eye diseases visual development (amblyopia) and potentially from
- Maternal infection during pregnancy (rubella, cortical visual impairment. HISTORY
toxoplasmosis, CMV, HSV, and syphilis) Family history of infancy blindness and congenital
- Prenatal drug use ETIOLOGY ocular disease
Whole globe: Microphltlalm ia, anophthalmia Maternal prenatal exposure to infection or teratogen
- Premature birth (one of the major causes in
developed countries) Glaucoma Birth history
Perinatal and neonatal: Cornea: Oltler known associated anomalies or
- Hypoxia/ischemia - Congenital opacities developmental delay
-Infection - Scarring due to infectious disease and vitamin A
deficiency is a major cause in underdeveloped PHYSICAL EXAM
- Nonaccidental trauma
countries. Ocular signs in infant:
Childhood: - Constant deviation of one eye
- Nutrition: Vitamin A deficiency Lens:
-Cataract -Nystagmus
-Infection -Wandering eye movements
-Trauma: nonaccidental and accidental - Ectopia lentis
Uvea: -lack of response to familiar faces
-Systemic and neurological diseases - Staring at bright lights
-Aniridia
Genetics -Uveitis - Eye poking/gouging (oculodigital sign)
Genetic eye disease and the ocular manifestations of -Coloboma -Absence of dampening on vestibular induced
systemic genetic disease are one of the leading causes nystagmus
Retina:
of childhood blindness. -Absence of eyepopping reflex of infancy
- Retinopathy of prematurity
- Retinal dystrophy Systemic examination for anomalies and infections
- Oculocutaneous albinism (toxoplasmosis, rubella, CMV, Hsv; congenital
- Retinoblastoma syphilis)
- Macular hypoplasia
- Retinal detachment or dysplasia
116
BLIND BABY
OaJiar findings: lssllfls for llflfwral REFERENCES
I
- Corneal opacity, abnormal size Gene11c cou nsellng
- Lens opadty Consult Infectious disease specialists for bllnd ness 1. ~unoz B, w,e. SK. Blindness and visual impairment
- Retinal findings: due to infectious etiology 1n the Amer1cas and the Caribbean. Br J
o MaCJiar scars: Toxoplasmosis Consult pediatridgenetic specialist when blindness OphtJuJimo/ 2002;86:498-504.
o MaCJiar hypoplasia: Albinism, aniridia is assodated with systemic diseases 2. Vision for Children. A global overview of blind ness.
o Coloboma childhood and VISION 2020: The right to sight.
o Retinopathy of prematurity SURGERY/OlltER PROCEDURES Wo~d Heatth Organization (WHO) and the
- Optic nerw hypoplasia, congen itaI optic atrophy; Cataract extraction International Agency for the Prevention of
and other anomalies ' Glaucoma surgery Blindness (IAPB). www.v2020.org.
Retinopathy of prematurity treatment: Laser or 3. Resnikoff 5, Pascolini D, Etya'ale D, et al. Global
DIAGNOSTIC TESTS & INTERPRETATION vitreoretinal surgery data on visual impairment in the year 2020. Bull
Lab o Strabismus surgery World Health Organ 2004;82:844-351.
Based on suspected etiology
IN-PATIENT CONSIDERATIONS 4. GIIbert C, Foster A. Ch lidhood bll ndness In the
Imaging context of VISION 2020: The right to sight. Bull
Consider brain MRI in cases of blindness due to Admission Criteria Wotld Health Organ 2001 ;7!1:227-232.
optic nerw ancmalies or in the absence of DaJiar Admission only indicated if underlying disease
warrants 5. Bautt JP, Quarello E. Retinal coloboma: Prenatal
disease that explains visual loss. diagnosis ~sing a new technique, the 'virtual fetal
Ultrasound to assess ocular anatomy in cases of eyeground . Ulrrasound Obsret Gyneco/2009
media opacity. ONGOING CARE 33(4):495-496. '
Diagnostic I'IDceduteS!Other FOLLOW-UP RECOMMENDATIONS
Examination under anesthesia as needed
o Cl~ ~peration with neonatologists, geneticist.
Electrophysiology testing in cases of blindness ped1atrK1ans, and sd1ool
. CODES
without significant oCJiar finding or if retinal
Ongoing low vision and educational assessment ICD9
pathology suspected
l'iltient Monif:Dring o 368.00 Amblyopia, unspecifM!d
Pathalogical Findings o Annual eye exam to monitor the condition and the o 369.00 Blindness of both eyes, impairment level not
Depends on cause of blindness d1ildlfamily progress and adaptation. More frequent further specHied
DIFFERENTlAL DIAGNOSIS if it is indicated o 369.9 UnspedfM!d visual loss
Delayed visual maturation Provide information and recommendation for sodal
Developmental delay service and sdlool.
Functional/hysterical visual loss PATIENT EDUCATION CLINICAL PEARLS
o Genetic counseling
o Review prenatal. birth, medical, and family history.
o Low vision intervention
. TREATMENT o Family support network - National Fedl!fation of the
o Complete 1!f1! examination is essential.
The presence of nystagmus should evoke a search
MEDICATION Blind (NFB) (http://www.nfb.org), American Coundl for oCJ lar abnormalities. The absence of nystagmus
As appropriate for underlying disorder of t11e Blind (A.C B) (hnp:/lwww.acb.org/resources/
should evoke a search for cortical/brain etiologies.
parents.htrnl), and National Association far Parents
ADDITIONAL TREATMENT o In u~de~loped countries always consider
with Visual Impairments (http:llwww.spedex.com/
General Measutes napvil) possible Infectious etiology, trauma, and vitamin
Correct refractive error deficiency as possible causes of blindness.
Amblyopia treatment PROGNOSIS o Genetic consult for blindness associated with other
Safety glasses If poorly seeing eye <20160 Depends on etiology and access to treatment! anomalies and syndromes.
inteNention o Early low vision intervention.
Low vision intervention induding low vision aids,
mobility training, and individualized education plan
117
BRANCH RETINAL VEIN OCCLUSION [BRVO]
Kamalesh J. Ramaiya
Gaurav K. Shah
~ BASICS
The classical components of Virchow's triad DIAGNOSTIC TESTS & INTERPRETATION
(alterations in normal blood flow, endothelial cell Lab
injury, and hypercoagulability) are thought to be the Laboratory testing is not needed to mak.e the
DESCRIPTION cause of the veno-ocdusive pathology. diagnosis.
An obstJuction of blood flow through a branch Stagnant blood flow results In hypoxia and damage No further workup is necessary in older (>50 years)
retinal vein at an arterio-venous crossing site (1)[CI. to the capillary endothelium causing leakage of individuals with known vascular disease; however.
It commonly presents with a variable level of blood constituents. routine cardiovascular examination by a primary care
painless decreased, blurred, or distorted vision. An increase in levels of vascular endothelial growth physician is warranted to ensure that underlying
-Can be classified as one of two clinical subtypes: factor (VEG F) after the veno-occlusive event has systemic conditions are appropriately managed.
ischemic or nonischem ic, which differ in their been demonstrated at the molecular level. All individuals under the age of 50 without a
presentation, clinical course, and prognosis. Vision loss can be due to secondary macular edema, preexisting underlying etiology require a workup for
Geriatric Considerations macular ischemia, or neovascularization and its a systemic cause.
The overwhelming majority of branch retinal vein sequelae. -This may initially include CBC, chemistry profile,
occlusions (BRVO) occur in middle aged to older ETIOLOGY fasting glucose and/or glucose tolerance testing,
individuals. especially those over 50 years of age. Most age-related BRVO are assodated systemic hemoglobin A1c, and lipid profile.
hypertension and atherosclerotic disease. -In addition, testing for a hypercoagulable state
Pediatric Considerations may indude homocysteine, protein C, protein S,
Pediatric cases of BRVO are rare. Many cases of BRVO Vein occlusion in a younger patient necessitates antithrombin Ill, anticardlolipin antibodies,
in young patients have a definable underlying etiology further workup for a hypercoagulable state or other antiphospholipid antibodies, lupus anticoagulant
such as a hypercoagulable state; however, BRVO have less common etiology. (DRVVT), ANA, SPEP, activated protein C
been reported in otherwise healthy children. COMMONLY ASSOCATED CONDmONS resistance, factor Ville, factor Vleiden, and
Pregnancy Considerations Systemic hypertension prothrombin variant 2021 0 A.
Venous occlusive disease in the setting of Diabetes mellitus Imaging
uncomplicated pregnancy and the absence of a Hyperlipidemia Fluorescein angiography shows a delay in venous
hypercoagulable state is rare but has been described filling in the area of the occlusion, relative to the
typically as a papillophlebitis that resolves
spontaneously. ~ DIAGNOSIS unaffected retina. Microaneurysms and leakage in
the affected area may also be present. BRVO of the
EPIDEMIOLOGY HISTORY ischemic variety show >5 disk areas of retinal
A targeted history should be elicited from the capillary nonperfuslon.
Incidence Optical coherence tomography (ocn is useful in
Retinal vein occlusions are the most frequently patient specifically inquiring about the risk factors
listed above. assessing for and following macular edema.
encountered retinal vascular disorder second to
diabetic retinopathy. BRVO are more common than -Symptoms vary on presentation, and mild cases Diagnostic Procedures/Other
central retinal vein occlusions (CRVO). may be asymptomatic. However, most will present Perimetry has also been advocated by some to be
-The 15-year cumulative Incidence is 1.8% as per with gradual or sudden vision loss and distortion useful in following patients with BRVO as visual acuity
the Beaver Dam Eye Study. of vision. Those presenting after development of alone may not be a true Indicator of visual function
- Affects approximately 95,000 people in the USA neovascular disease may complain of pain, due to eccentric fixation.
per year. redness, and epiphora.
- Most commonly encountered in the fifth or sixth PHYSICAL EXAM Early BRVO may demonstrate lntraretinal edema,
decades of life, but can occur at all ages. A complete ocular examination lnduding retinal hemorrhages, disk swelling, and cytoid
- Males and females are equally affected. gonioscopy and dilated funduscopy at the initial and bod'tes.
Prevalence follow-up visits should be performed in all patients Old BRVO may show disorganization of the retinal
Prevalena! increases with increasing age. suspected of having BRVO. layers (especially inner), retinal hemosiderin
Overall prevalence is 0.6-1.6%. - Clinically this condition presents with localized deposits, and preretinal fibrosis and neovascular
flame-shaped intraretinal hemorrhages in a membranes.
RISK FACTORS sectoral vascular distribution of the retina. Dilated
BRVO has been strongly associated with systemic and tortuous retinal vessels may be present distal DIFFERENTIAL DIAGNOSIS
hypertension (65-75%). Other risk. factors include a to the occlusion. Microaneurysms, cotton wool Diabetic retinopathy
history of cardiovascular disease, diabetes mellitus, spots, and retinal edema may also be present. Hypertensive retinopathy
obesity, hyperlipidemia, and hyperviscosity Collateral vessels crossing the horizontal raphe, Retinal vasculitis
syndromes. vascular sheathing, and macular retinal pigment Retinal arteriolar macroaneurysm
Unlik.e with CRVO, the association of glaucoma with epithelial changes may occur late in the course of Radiation retinopathy
BRVO Is unclear. the disease.
PATHOPHYSIOLOGY - BRVO most commonly affects the superotemporal
The exact mechanism of pathogenesis is unknown. vein (4HO%), followed by the inferotemporal
quadrant (2 2-43%), and rarely the nasal
The occlusion is thought to occur because of a
mechanical obstruction at the level of an quadrants.
arterio-venous crossing site in the retina, but this Occasionally BRVO occurs after the development of
has been debated. neovascularization, lnduding as a vitreous
Factors predisposing to this location include the hemorrhage. Rubeosis (anterior segment
neovascularization) from BRVO is very rare.
dose approximation of the branch retinal vein and
artery which share a common adventitial sheath.
118
BRAICH RETINAL VEIN OCCLUSION (BRYO)
.
MEDICATION
RrstLine
TREATMENT
MaOJiar grid laser photocoagulation Is Indicated for
persistent maOJiar edema (>3 months duration) In
patients with visual acuity 20140 or less, and lack of
capillary nonperfusion on fluorescein angiography.
3. Mdntosh RL. Mohamed Q, Saw SM. et al.
Interventions for brandi retinal vein occlusion: an
evidence-based systematic review. Ophthalmology
2007;114(5}:835-8S4.
4. Campochiaro PA. Heier JS, Feiner 1.., et al. for The
I
:
Management at retinal vein occlusion typically This was shown to be effective per the Branch Vein BRAVO Investigators. Ranibizumab for macular
Involves treaunent at macular edema and/or Occlusion Study (BVOS). edema following Branch RetinaI Vein Occlusion
neovascular complications resu IIing Irom the initial Pan retinal laser photocoag ulatlon (PRP) remains the slx-monlti primary end polnt results of a phase Ill
I!Vl!nl. mainstay of treatment for neovaswlar disease stucly. Ophtha/mology201D;117:1102-1112.
resulting from BRVO, as per !tie results of the BVOS. 5. Scott IU, lp MS. Vanveldhuisen PC, et al. A
Hislllrically, medical management of BRVO had It should be noted that prophylactic PRP has not
been Iimited to panretinal and/or maOJiar grid laser randomized trial comparing the efficacy and safety
shown to be of benefit in preventing of intravitreal triamcinolone wilt! standard care to
photocoagulation (see the Surgery section below) neovascularization.
(2)[A]. treat vision loss associated with macular edema
Pars plana vltrectorny with or without lntemal secondary to branch retinal vein ocd uslon: The
Recent studies have demonstrated efficacy of limiting membrane peeling, arteriovenous standard care vs corticosteroid for retinal vein
intravitreally administered drugs in improving sheathotomy, and laser induced diorioretinal DCCI usion (score) stuely report 6. Arch
mawlar edema and improving and/or stabilizing anaslllmoses are all surgical procedures that have OphthBimology 2009;127(9):1115-1128.
visual awlty In patients with BRVO (3)[8]. shown mixed results in terms at efficacy, but are 6. CahiII MT, Fekrat S. Arteriovenous shealtiotorny for
- Avastin (bevacizumab) is a humanized monoclonal sometimes utilized In refractory cases of BRVO br.mdi retinal vein ocduslon. Ophlha/mol Clln
antibody against VEGF It!at is injected into the (6)[C]. NorthAm 2002;15(4):417-423.
vitreous cavity. It has been FDA approved for
intravenous use in the management of certain
cancers and has been successfully utilized $ ONGOING CARE
. CODES
lntravltreal ti for BRVO.
- L.ucentis (ranibizumab) is also an anti-VEGF After !tie initial event. patients should be followed ICD9
antibody approved for ophthalmic use that is monltily for the first 3 months. and then every 362.3 5 Central retinal vein DCCI usion
injected into the vitreous cavity. Recent studies 3 months for the first year. 362.30 Retinal vascular ocdusion, unspecifiEd
including the BRVO trial have shown its efficacy 362.36 Venous tributary (branch) occlusion of retina
for BRVO (4)]A]. l'etient Monitoring
- Ozurdex (dexameltiasone, 0.7 mg) is a slow
ocr. visual flelds. and fl uoresceln angiography may be
usefuI adJunctive tests to follow thIs condition.
release implant that is injected into the vitreous CLINICAL PEARLS
cavity. PROGNOSIS
The overall visual prognosis is relative~ good with The d1aracter1stlc flndlngs on clln leal exam lnatlon
Second Line approximately 50% of patients having a final visual are multipie. diffuse intraretinal hemonhages in a
Kenalog (triamcinolone) is a.steroid suspension that aOJity of 20140 or better and 2Q-25% at patients sectoral YiiSC\IIar distribution of the retina, usually
can be injected intravitreally or into the subtenon's having a finaIvisuaI acuity of 20/200 or worse. superotemporally.
space. It is not approved for ophthalmic use. but has Howevl!r, the visual prognosis for any given patient A thorough search for an underlying systemic
been shown to reduce macular edema from BRVO in is diffirult to predict as conversion from !tie etiology must be performed In younger patients
the short term. Although long-term efficacy has not nonischemic to !tie ischemic subtype is not unusual. presenting with ttl is condition.
been demonstrated, It 15 occasional ti utilized as Factors lnfluendng the visual outcome of BRVO Patients with persistent marular edema of
second line therapy (SJIA]. lndude size and location of the affected area, <3 months duration, 2D/40 or worse vision, and
Other medications are presently under investigation presence of macular edema, presence of macular demonstrated marular perfusion on FA should
for use in vein occlusions. nonperfusion, retinal neDViiSQIIarization, and receive maOJiar grid laser photocoagulation.
- VEGF-Trap is a fusion protein wi1 ich binds to the vitreous hemorrhage. Panretlnal photocoagulation Is lhe primary lherapy
VEGF-A and placental growth factor. Clinical trials COMPUCATlONS after the development of neovascularization.
are presently underway to determine its efficacy in VIsion loss due to a variety of reasons: Newer intravitreal therapies for managing secondary
vein ocd usions. - Macular ischemia macular edema are emerging.
- Combination treatments of !tie above medical - Macular edema
ltierapies and surgical therapies (see below) are - Neovasw lar disease
also being studied. Complications secondary to comorbid systemic
ADDITIONAL TREATMENT vasw lar disease or a hypercoagulable state
Issues for Refe~l
Feedback to the patient's primary physidan is REFERENCES
important for optimization of the patient's comorbid
systemic mEdical conditions such as systemic 1. Staurenghl G, Lonatl C, Asdiero M, et al.
hypertension. Arteriovenous crossing as a risk factor In brandi
retinal vein occlusion. Am 1 Ophtha/mo/1994;
117(2):211-213.
2. The Branch Vein Occlusion Study Group. Argon laser
photocoagulation for maOJiar edema in branch vein
occlusion. Am J Ophtha/mo/1984;96(3):271-282.
119
BROWN SYNDROME
Colleen J. Christian
Lab
Initial lab tests
DESCRIPTION HISTORY
If acquired, testing for possible arthritis is performed
Ocular motility disorder characterized by an inability to Unusual eye movement in upgaze in adduction: May
(ANA. rheumatoid factor, erythrocyte sedimentation
actively or passively elevate ttle eye in adduction not be noticed by parents until later in childhood:
rate, complete blood count with differential, urinalysis)
-Acquired: Can be diplopic in upgaze and
EPIDEMIOLOGY (see the Pediatric Uveitis chapter).
occasionally in contralateral gaze
Incidence - Pain or sensation of a click" on attempted Follow-up lr special considerations
Occurs in 1 of 450 strabismus cases elevation in adduction Even if initial testing for arthritis is negative, continue
- Inflammatory causes may note supranasal orbital follow-up as it may appear after Brown syndrome
Prevalence occurs.
Unknown pain, swelling, and tenderness.
History of arthritis or joint pain Imaging
RISK FACTORS History of trauma
Trauma to superior oblique muscle or trochlea MRl scan can show enhancement of the superior
Juvenile idiopathic or rheumatoid arthritis PHYSICAL EXAM oblique/trochlear region in acquired cases, but is not
Limited elevation in adduction can range from necessary to make the diagnosis (4)[A].
Genetics minimal to severe.
Autosomal dominant inheritance has been observed
rarely. Elevation in abduction is normal. Positive forced duction testing
Face-turn away from the involved eye or chin-up Ultrasound of trochlear area may be useful in
PATHOPHYSIOLOGY position to avoid associated diplopia. acquired cases.
Restricted elevation when adducting caused by either Hypotropia in primary or in gaze away from the
an abnormal superior oblique muscle or tendon, or DIFFERENTIAL DIAGNOSIS
involved eye. Double elevator palsy (see the chapter on this)
mechanical limitation at the trochlea. Amblyopia can occur but is rare. Primary inferior oblique palsy
EnOLOGY With acquired, an audible or palpable superior nasal Orbital fracture. tumor, or hemorrhage
Congenital: A tight or inelastic superior oblique click may be found on attempted elevation in
Absent/anomalous muscles as in craniosynostosis
tendon adduction.
syndromes
Acquired:
rJ
Swelling and tenderness occur in the trochlear space.
- Due to trauma either to the superior oblique Full dilated eye examination is perfoll'lled with
muscle/tendon, or to the trochlea refraction. TREATMENT
- Inflammation, in particular juvenile idiopathic and Uveitis associated with arthritis is checked.
adult rheumatoid arthritis (1 )[A], (2)[A] MEDICATION
First Line
COMMONLY ASSOCIATED CONDITIONS In acquired nontraumatic cases:
Juvenile idiopathic or adult rheumatoid arthritis -In patients wittl associated juvenile idiopathic or
Trauma rheumatoid arthritis, treatment of the underlying
No other consistent systemic or strabismus condition often results in resolution of Brown
associations (3)[A] syndrome.
- In patients wittl no associated condition,
anti-inflammatory medication such as oral
ibuprofen can be used.
- If inflammation persists, oral nonsteroidal
anti-inflammatory drugs can be used.
Second Line
If inflammation persists, oral corticosteroids or local
steroid injections in the area of the trochlea may be
helpful.
120
BROWN SYNDROME
General IIAHsUI'eS
Treatment of Brown syndrome Is necessary when a
hypotropia in primary gaze or a cosmetically
ONGOING CARE
5. Suh DW, Oystred DT, Hunter DG. Long-term results
of an Intraoperative adJustable supe~or oblique
tendon suture spacer using nonabsorbable suture
for Brown syndrome. J AAPOS 2003;7(4):274-278.
I
,
1
significant head turn is present Many patierrts do nat As needed for manitori ng of amblyopia and further 6. Sprunger DT, von Noorden GK. Helveston EM.
require treatment as they are comfortable visually, do diplopia or unusual head position Surgical results in Brown syndrome. J PediatJ
not have an adaptive head position, and learn to htient NlonitDring Of/!thalmo/ Stfabismus 1991 ;28(3): 164-167.
avoid the Involved position. VIsual acuity and overall function
Issues for Rmm~l PROGNOSIS
Rheumatology consultation may be helpful in acquired Congenital: . CODES
cases. - Many patients do not require intervention as their
related symptoms are not significant. ICD9
COMPLEMENTARY & ALTERNATIVE 37B.9 Unspedfll!d disorder of eye movements
TliERAPIES - Face turn or hypotropia can be corrected with
surgery but long-term follow-up Is needed to rule 378.60 Mecha nicaI strabismus. unspedfied
None proven or indicated
out amblyopia or conseoJtive inferior oblique 378.61 Brown's (tendon) sheath syndrome
SURGERY/OTHER PROCEDURES overaction.
Indications for surgery indude the presence of Acquired:
significant head position or a hypotropia in primary - When associated with inflammatory disease, often CLINICAL PEARLS
gaze. resolves with ~mlc treatment
The goa Is of surgery are to allow a more normal - Can resolve spontaneously in acquired Diagnosis made on physical exam by noting Inability
head position and to lessen diplopia in the largest nontraumatic cases to elevate eye in adduction, but full elevation in
possible fleld of gaze. abduction. Look for hypotropia in primary gaze, or
Surgical treatment is to release superior oblique adaptive head position.
restriction without causing further symptoms, such REFERENCES Can be congenital or acquired.
as a hypotropla due to overactlon of the lnfe~or Congenital can be asymptomatic and may not
1. Wilson ME, Eustis HS Jr, Parks MM. Brown's require treatment.
oblique.
syndrome. Surv Of/!tha/mo/ 19B9;34(3):153-172. Acquired may resolve sponlllneously or improvt!
Surgical procedures include:
- Superior oblique tenotomy or tenectomy 2. Kaban TJ, Smith K, Orton RB, et al. Natural history with sysl!!mic medication.
- Superior oblique l!!notomy with: of presumed congenital Brown syndrome. Arch Surgical goal is to release superior oblique
o Split tendon lengthening
Ophtha/mol 1993;111(7):943~. restriction, but can lead to further symptoms of
o Suture bridge placement 3. Wang FM, Wertenbaki!r C, Behrens MM. et al. hypertropia in the involved eye.
o Silicone tendon expander placement Acquired Brown's syndrome in children with
juvenile rheumatoid arthritis. Ophthalmology
Goal with the above procedures in addition to , gB4;91 (1):2}-26.
l!!notomy is to lessen postoperative superior 4. Bhoia R, Rosenbaum AL, Ortube MC, et aI.
oblique weakness (S)[A], (6)[A]. High -resolution magnetic resonance imaging
demonstrates varied anatomic abnormalities in
Brown syndrome.JAAPOS 2005;9(5):438-448.
121
BUU.OUS KERATOPATHY
Harminder S. Dua
Dalia G. Said
AmmarMiri
~ BASICS
Edema also causes separation of stromal lamellae. PHYSICAL EXAM
Visual loss is more due to epithelial rather than Externally, the lids may be edematous with a narrow
stromal edema. At night the cornea becomes more palpebral aperture. The cornea appears dull and
DESCRIPTION edematous due to lack of evaporative loss of fluid lusterless.
A condition in which corneal endothelial failure leads and poor endothelial cell metabolism. This results in Slit lamp examination:
to chronic edema resulting in the formation of the classic symptom of misty vision on waking, - Corneal epithelium - superficial punctate !ceratitis
epithelial bullae or vesicles. These bullae often rupture which clears with the passage of time. The time and surface irregularity due to intact and ruptured
causing episodes of severe pain. talcen for improvement is related to the functional epithelial bullae. On fluorescein staining the intact
EPIDEMIOLOGY capacity of the residual endothelium. vesicles present as negatively staining dark. dots
ETIOLOGY and the ruptured bullae as green dots when
lnddence
Corneal endothelial dystrophies such as FED and visualized with cobalt blue light.
The postcataract surgery reported incidence of bullous
posterior polymorphous dystrophy - Stromal edema - manifests as a sectorial or
lceratopathy (BK) ranges from 0.06% to 2%. It was
generalized increase in corneal thickness and
0.06% with posterior chamber implants. 1.2% with Glaucoma: End stage of acute primary and
intrastromal clear fluid clefts.
anterior chamber implants. and 1.5% with iris fiXated secondary glaucoma (absolute glaucoma)
- Superficial or deep corneal vessels may be seen in
lens after 1year. The incidence increases in the setting Chronic lceratouveitis
of vitreous loss, iris fixated or dosed loop anterior longstanding cases.
Corneal graft failure: - Irregularity of Descemet's membrane is seen as
chamber lens, and in patients with underlying - Primary endothelial failure
endothelial dysfunction. However, since the advent of folds or corrugations.
- Endothelial rejection FEatures of the underlying disease may be seen such
viscoelastic substances to protect the endothelium and - Endothelial cell loss over time
the improvement in lens design the incidence has as silver beaten appearance and guttata in FED;
- Detached endothelial graft pigment dusting and old keratic precipitates in
been decreasing. Endothelial trauma: chronic uveitis and iris atrophy or a dilated fixed
RISK FACTORS - Latrogenic: Complicated cataract surgery, pupil of absolute glaucoma.
Complicated cataract surgery with vitreous loss glaucoma filtering surgery, anterior chamber The intraocular pressure (lOP) may be elevated,
Fuchs endothelial dystrophy (FED) phakic and pseudophakic implants. irrigating normal or low. In the presence of excessive corneal
solution toxicity, instrument-related injury, edema. lOP measured by Goldman's applanation
GENERAL PREVENTION Descemet's membrane detachment or tear
Use of retentive-dispersive viscoelastic during tonometer or the Tonopen can be misleading and
anterior segment procedures to protect the Pediatric Considerations "finger palpation of the eye ball may be required
endothelium especially when operating in eyes with Birth injury to the cornea during forceps delivery can to assess lOP.
endothelial dystrophies cause loss of endothelial cells with corneal edema at DIAGNOSTIC TESTS & INTERPRETATION
Minimizing phaco power and time during cataract birth or at any time later on.
Imaging
surgery Congenital hereditary endothelial dystrophy (CHED) Specular microscopy will demonstrate the reduction
Adequate control of postoperative inflammation and Congenital glaucoma of endothelial count with pleomorphism and
intraocular pressure polymegathism.
PATHOPHYSIOLOGY
When some of the endothelial cells are damaged or
~ DIAGNOSIS In vivo confocal microscopy: Shows bullae within the
basal layers of the epithelium, diffuse bright
lost the remaining cells rearrange to cover the area reflections at Bowman's zone with the absence of
HISTORY
occupied by the damaged cells. This causes the cells Reduced vision and mistiness typically in the nerves, diffuse increased light reflections due to
to enlarge (polymegathism) and assume irregular morning which clears after a few hours. The stromal edema alternating with dark bands
shapes (pleomorphism). With increasing loss, the duration to clearing increases as the endothelial representing that lacunae can be seen primarily in
endothelial pump eventually fails to deturgesce the failure proceeds eventually leading to permanent the anterior stroma. These findings are from BK in
cornea and the stroma starts to swell. In FED new visual loss. FED.
basement membrane (Descemet's) is laid down by Ocular surface irritation or gritty sensation Diagnostic Procedures/Other
dystrophic endothelial cells. This is thiclcened, wavy, associated with corneal epithelial irregularity Pachymetry: Corneal thickness >590 ILm in a
and differs in density and surface characteristics Repeated episodes of severe pain photophobia and pseudophakic eye may be associated with irreversible
from the original Descemet's resulting in a silver lacrimation corneal edema
beaten appearance. Eventually fluid accumulates
between the basal epithelial cells clinically
manifesting as epithelial edema. Fluid vesicles may
coalesce to form epithelial and subepithelial bullae
stretching the nerve endings causing pain, which
can be severe when the bullae rupture exposing the
subepithelial nerve plexus.
122
BULLOUS KERATOPATliY
Ep!thellum: Intracellular epithelial edema with
formation of vesicles.
-Elongated fibrocyte like cells above Bowman's
zone
- Attrition of sub-basal neM plexus
The deflnltlve treatment for BK Is 41 n endothelial or
penetrating keratoplasty (1)[8). This should be
considered in all eyes with visual potential
In eyes with no llisual potential or when graft
~~:::~.~~E~ Melles GR. Endothelial
kl!ritoplasty: DSE KJDSAEK or DMEK- the thinner
the better? Curr Op/n Ophthalmol 2009; 20:
299-307.
I
Stroma: Thidcening, collagen degradation, and material is not readily available and relief from 2. Said DG, Nubile M, Alornar T. et al. Histologic
keratocyte depledon. symptoms is warranted, one or a combination of the features of transplanted amniotic membrane:
- Aberrant stromaI nerves following can be t~ed: implications for corneal wound healing.
- Superficial and deep vascularization at times - Anterior stromal puncture (ASP): Over areas of Ophthalmology 2009;116: 1287-1295.
Endothelium: Cell loss and features of assodated of bullae induces subepithelial scarring whid1 allows 3. Vyas S, Rath i v. Combined phototherapeutic
FED if present- guttata and Descemet's membrane the epithelium to adhere securely. It leaves behind keratectomy and amniotic membr.me grafts for
thidcen ing. small scars which can interfere with vision. symptomatic bullous keratopathy. Comea 2009;
- Phototherapeudc keratectomy (PliO v.1th the 28:1028-1031.
DIFFERENTlAL DIAGNOSIS excimer laser (2,3)[8)
Certain acute conditions may present with features
- Amniotic membrane transplant (AMn: The loose
resembling BK:
bullous epithelium is remcnred and a drcular disk. ADDI110NAL READING
-Acute hydrops in keratoconus
of amnion, 9-11 mm in diameter, is glued or Price MO, Price FW Jr. Endothelial keratoplasty- a
-Endothelial detad1ment or tear secondary to
sutured to the corneal surface. New epithelium ll!lll'ew. Clln Expelfment Ophtfla/mo/ 201 0;38:
trauma or surgl!fY.
from the limbus migrates on the amnion (graft), 128-14{1.
- Acute primary or secondary glaucoma
which becomes incorporated into the anterior
- Disciform keratitis
fl
comeal stroma (2)[8 ).
TREATMENT
- Historical~. conjunctival flaps have been proved to ( t coDES
bt! useful in tneating sewral ocular surface
epithelial condldons Including BK. ICD!f
MEDICATION
Retrobulbar alcohol, enucleation, or evlsceradon: In 371.23 BuIICYS keratopathy
FlmLine patients with no visual potential as in end-stage
Hypertonic sodium chloride (S'Yo) drops or ointment rubeotic glaucoma, these measures may be
2--4 times especially In the flrst haIf of the day considened to rei ieve pain and other symptoms. CLINICAL PEARLS
warm air (from a hair dryer) blown across the open
eye(s) Endothelial dysfunction from any cause can lead to
Reduction of intraocular pressure with medication ONGOING CARE BK.
Early morning mist vision, dearing as the day
Second Une COMPUtATIONS progresses, is an early symptom of endothelial
Extended wear hydrophilic contllct lens can reduce the CorneaI ulceradon clysfunction and corneal edema. This can progress
pain and may Improve the vision slightly by r~ucl.ng SecondaIY bacterial infection on to BK when vision is permanently impaired.
surface irregularities. However, proper lens litt1ng 1s an CorneaI hypoesthesia
issue as a loose lens can cause further damage to the Ocular surface pain of WIYing degnees is the most
Scarring and vaswlarization compelling symptom of BK.
epithelium and a tight lens can cause hypoxia leading
to further edema and anterior uveitis (toxic lens Slit lamp examination and pachymetry help in
syndrome). making the correct diagnosis.
Penetrating or endothelial keratoplasty is the
definitilll! treatment in patients with good visual
potential, for restoradon of sight and relief from
pain.
Other measures such as ASP, PTX. AMT, and
conjunctival flaps help to prollide relief from ~in
but do not restore sight or addness the underlying
endotheliaI clysfunction. They may be considened as
temporizing measures until a keratoplasty can be
performed.
The sick epithelium is vulnerable to infection, which
often supervenes. A bandage contact lens. though
alleviates pain, can increase the risk of infection.
123
CANALICULITIS
Edward H. Bedrossian Jr.
Canalicular probing with recovery of concretions is
diagnostic
DESCRIPTION HISTORY lntracanalicular plug may also be found
Acute or chronic isolated inflammation of the Epiphora
canalicular system Localized pain and swelling at or medial to punctum Pathological Findings
Concretions with or without pathologic organisms
Mucopurulent discharge
EPIDEMIOLOGY
Incidence PHYSICAL EXAM
Dacryocystitis
6:1 female:male Purulent material at punctum
Edematous dilated punctum Chalazion
93% lower canaliculus
Tender erythematous canaliculus Mucopurulent conjunctivitis
Prevalence
Rare, varies with populations
More common in adults
RISK FACTORS
Mild to severe swelling ofthe canaliculus
Slit-lamp exam shows dilated punctum with
discharge and tender canaliculus.
rJ TREATMENT
MEDICATION
Canalicular plugs DIAGNOSTIC TESTS & INTERPRETATION
First Line
Recurrent conjunctivitis Lab Penicillin eyedrop 100,000 units/ml q.i.d. for
Dacryocystitis Initial lab tests
2 weeks. This must be formulated by the pharmacy
Culture and sensitivity
GENERAL PREVENTION each week and placed in a brown ultraviolet
Fungal cultures protected bottle.
Ocular hygiene
Follow-up It special considerations Alternative: Sodium sulfacetamide 10% 1ggt q.i.d.
Avoid intracanalicular plugs Curettage of the infected canaliculus with a small for 2 weeks (if penicillin eyedrops are not available).
PATHOPHYSIOLOGY chalazion curette Warm compresses q.i.d.
Canalicular obstruction with subsequent infection and Imaging
inflammation of the canalicular system Second Line
Follow-up It special considerations Surgery, see below
EnOLOGY Dacryocystogram (DCG) to rule out dacryoliths or
Streptrx:rx:cuslstaphyiococcus species lacrimal sac foreign bodies if problem extends beyond
Actinomyceslpropionibaderium the canaliculus
Mixed organisms
Chronic conjunctivitis
Recurrent dacryocystitis
History of dry eyes
124
CANALICUUTIS
ADDITIONAL TREATMENT ADDITIONAL READING

General IIAHsUI'eS . CODES
Broad spectrum antibiotic eye drops q.l.d. fur 1 week Zaldivar RA. Bradley EA. Primary canallwlttls.
postoperative canalirulotomy Ophrhal Plast Reconstr Surg 2009;25(6}:481-484. ICD9
lss~HU for Refem~l
Ahn HB, Seo JW, Roh MS, et al. Canaliwlitis with a 375.30 Daayocystilis, unspedfied
Patients should follow up with ophthalmologist in papilloma-like mass caused by a temporary puncta! 375.31 Acute canallwlttls, laalmal
I
1 weelc, 1 month, then p.r.n. plug. Ophtflal Plast Reamstr Surg 2009;25(5): 375.41 Chronic canaliwlitis
413--414.
SURGERY/OTHER PROCEDURES Lin SC, Kao SC, Tsal CC, et al. Clinical characteristics
Removal of all concretions from the involved and factors assositaed the outcome of lacrimal CLINICAL PEARLS
canaliwIus is essentiaI for cure. An incision into the canaliculitis. Acta Ophthalmal 201 0. ]Epub ahead of
horizontal canaliculus from the conjunctival surface, print). More common in lower canaliculus
leaving the punctum intact, provides excellent Anand S.Hollingworth K. KumarV, et al. Complete removal of concretions (canaliculolithes)
exposure for remova I of canallculltls. Canallculltls: The Incidence of long-term epiphora necessary for cure
The canal iculotomy is left open. following canallculotomy. Oltllt 2004; 23(1 0):19-26. Must be considered In the differential diagnosis of
chronic conjunctivitis
ONGOING CARE
PATIENT EDUCATION
Canaliculoplasty is safe and effective in the treatment
of lacrimaI canaIiculitis.
PROGNOSIS
Nearly 100% cure. If aII concretions are removed.
COMPLICATIONS
Recurrence. if all concretions are not removed
Rare~ patient may have ll!aring from obstruction
and scarring of canaliculus
125
CAROTID CAVERNOUS FISTUlA
Behin Barahimi
Ann P. Murchison
Jurij R. Bilyk
~ BASICS
Genetics In lower flaw lesions, the patient's only complaint
The genetics associated with collagen vascular may be of a unilateral or, less frequently, bilateral
diseases. pseudoxanthoma elasticum. and connective red eye of varying duration, from days to months.
DESCRIPTION tissue diseases would apply in appropriate cases. Patients may have seen multiple physicians and
A carotid/cavernous sinus fistula (CCF) is an abnormal However. the majority of cases are secondary to carry avariety of misdiagnoses, including
communication between an artery and the venous hypertension and trauma. conjunctivitis, allergic reaction. dry eye. etc. (1)[C].
plexus within the cavernous sinus (CS). This can occur Same patients may elicit a history of unilateral
spontaneously or secondary to trauma. Fistulas are GENERAL PREVENTION
Minimizing risk factors associated with hypertension glaucoma, often diagnosed at the time of the red
broadly categorized based on the flow rate (high or eye.
low) and more specifically by the feeder vessel(s) and atherosclerosis would presumably be beneficial in
decreasing the risk of some forms of CCF. Double vision. Since the abducens nerve is the most
(Tables 1and 2). vulnerable cranial nerve within the CS, patients may
complain of horizontal, binocular diplopia that is
gaze dependent. Vertical diplopia is less common.
Table 1 A simplified schema of CCF, based on clinical findings (1)[C]
The patient may complain of a bulging eye if
Type Characteristics Clinical features proptosis is present.
High flow Usually direct fistulas (Barrow type A) Usually dramatic external signs Neurologic symptoms (weakness, slurred speech,
sensory deficits) are ominous signs of possible
7G-80% are due to trauma resulting in basilar Most common in young males
posterior cortical venous drainage.
sk:ull fracture. with a resultant tear in the internal May result in permanent visual loss and
carotid artery neurologic injury PHYSICAL EXAM
Spontaneous lesions are secondary to aneurysm Requires closure Decreased vision. dyschromatopsia, and afferent
or atherosclerotic damage pupillary defect: Usually secondary to vascular
Iatrogenic: Endovascular procedures (including compromise of the optic nerve or retina
carotid endarterectomy), skull base surgery Asymmetrically elevated intraocular pressure:
Law flow Usually indirect fistulas (Barrow type B, C. or D) Typically subtle, more chronic signs Secondary to decreased episcleral venous outflow
into a congested orbit
Also called dural-sinus fistula" More common in females >50 years of
age Conjunctival injection: As the CS becomes
Typically fed by a smaller caliber branch of the
arterialized with blood from the feeding vessel(s),
internal or external carotid artery, or both (e.g., Associated with hypertension,
the venous outflow of the orbit becomes congested.
meningeal arteries, ascending pharyngeal artery, atherosclerosis, and connective tissue
causing the conjunctival vessels to become dilated
etc.) diseases
and tortuous. At the slit lamp, corkscrewing of
May close spontaneously the conjunctival vessels extending to the limbus may
be present.
Proptosis: As orbital venous congestion develops,
the globe becomes anteriorly displaced
PATHOPHYSIOLOGY Diplopia: See the History section
Table 2 The Barrow classification of CCF CCF alters the flow dynamics of the skull base. The Bruit: A supraorbital bruit may be auscultated in
Type Arterial feeder superior ophthalmic vein (SOV) provides almost higher flow lesions
exclusive venous drainage of the orbit into the CS. In Optic nerve edema
A ICA addition, the venous plexus of the CS communicates Central or branch retinal vein occlusion. secondary
B Branches ofthe ICA with the contralateral CS and the deep cortical veins to venous stasis. Arterial occlusion is less common
C Branches ofthe ECA within the brain. An abnormal communication Angle-closure glaucoma from forward rotation of
D Branches of both ICA and ECA between an intracranial artery and the venous plexus the iris-lens diaphragm (2)[C[
of the CS creates flow problems in the surrounding
anatomy, potentially causing damage intraorbitally DIAGNOSTIC TESTS 8r INTERPRETATION
ICA = internal carotid artery; ECA = external carotid artery.
and intracranially. Lab
ETIOLOGY Initial lab tests
EPIDEMIOLOGY See above There are no diagnostic lab tests.
Incidence Imaging
Specific numbers are not known but overall it is a rare Initial approach
See the Risk Factors section
entity. Orbital calor Doppler ultrasonography: A
~ DIAGNOSIS
noninvasive method to detect an enlarged SOV with
Prevalence
reversal of flaw and an arterialized wave farm. The
Not known
sensitivity and specificity of this test is unknown, but
RISK FACTORS HISTORY is probably more reliable in higher flow states.
Hypertension Presenting symptoms vary widely and depend of the CT/CTA: In cases where trauma is involved, this is
Atherosclerosis amount of blood flow through the fistula. High-flow usually the first imaging study dane. Typical findings
Collagen vascular disease fistulas can present with marked proptosis, diplopia, include an enlarged superior ophthalmic vein (SOV),
and decreased vision. Low-flow fistulas may only thickened extraocular muscles and an enlarged CS.
Connective tissue disease (Ehlers-Danlos)
have mild conjunctival injection. The sensitivity of CTA is dependent on the caliber of
Pregnancy
The patient may have a recent or distant history of the fistula.
History of carotid artery aneurysm trauma, which may or may not have affected the
History oftrauma MRI/MRA: Similar findings as in CT. MRI may also
head. show slow flow or thrombus formation within the
Complaints of a dull retrobulbar ache or sov.
"whooshing sound in the head may be present.
126
CAROTID CAVERNOUS FISTUlA
Angiography: This is thl! gold standard, can SURGERY/OTHER PROCEDURES REFERENCES

diagnose smaII arterial feeders, and allows An endovascular approacl1 using either the arterial
slmu ltaneous management by embolization. It Is or venous system, w1th embolization of the flstula 1. Chaudhry lA. Elkhamry SM. AI-Rashed W, et al.
important to perform angiography of the entire using a number of materials. These procedures are Carotid cavernous fistula: OphthalmologicaI
cranial artl!rial system ("sixvessel" angiography: technically difficult and often require a implications. Middle EastAfrJ Ophthalmol
BilateraI internal and external carotid arteries as multidisciplinary approach (3)[C]. An SOV approacl1 2009;16(2):5H3.
well as vertebral arteries). This modality will also through a lid crease indsion often requires an 2. Miller NR. Diagnosis and management of dural C
assess any posterior corUcaI venous outflow. orbital surgeon experienced In this procedure. carotid-cavernous sinus fiStulas. Neurosurg FIXUS
Arteriography alone can be therapeutic for indirect Other treatments for CCFs include craniotomy, 2007;E 23(5):13.
dural fiStulas in 20-50% of cases (2)[C). conventional radiation therapy, stereotactic 3. Gemmete JJ, Ansari SA, Gandhi DM. Endovaswlar
Folhrw-up a Sptlcll canslderatlans radiosurgery (3}[C]. techniques for treatment of carotid-cavernous
If no posterior corUcaI venous outflow Is present and IN-PATIENT CONSIDERATIONS fistula. J NeurrH)phtha/mo/ 2009;29:62-71.
visuaI function is not at risk. many patients with
law-flow fistulas may be managed conservatively. Initial Stabilization
For trauma patients follow standard protocols. ADDI110NAL READING
DIFFERENTlAL DIAGNOSIS Following embolization, the patient should be
Thyroid eye disease moniiDred for an acute exacerbation of orbital signs. Mendicino ME, Simon DJ, Newman NJ. The
Idiopathic orbltallnflam matory syndrome which may occur after aarte dosure of the SOV. ophthalmology of intracranial vascular
Sphen~>-orbltal mass abnormalities. Am J O{iltha/mo/1 998; 125:
Admission Critetia 527-544.
Conjunctivitis Most patients who undergo angiography or
Episcleritis Goldberg RA, Goldey SH, Duckw!ler G, et al.
endovascular treatment are admitted for 24 h of
Management of cavernous sinus dural fistulas. Ardt
Tolosa-Hunt syndrome (2)[C) observation.
Ophtha/mo/ 1996;114:707-714.
WFiulds Kirsh M, Henkes H, Liebig T, et al. Endovascular
Hydration is necessary to dear the intrawnous dye management of dural carotid-<avernous sinus
. TREATMENT load of angiography. fistulas In 141 patients. Neuroradlology
MEDICATION Nursing 2006;48:486-490.
FlmLine Management of the angiography cut'ilown site Feiner L, Benntm J, Volpe NJ. Cavernous sinus
Glaucoma: Treated with topical medications induding Frequent neurologic checks to rule out cerebraI fistulas: Carotid cavernous fiStulas and dural
beta-blocker, alpha agonist. carbonic anhydrase vasospasm arteriorvenous malformations. Nt!Uro-
Inhibitor, or prostaglandin. An oral carbonic anhydrase Observation for any worsen! ng of orbital signs ophthalmology 2003;3:415-420.
inhibitor may also be utilized.
Discharge Criteria
Second Une Visual function is stable and intraocular pressure is
Systemic management of hypertension and normalizing . CODES
hypercholesterolemia Cut'ilown site is stable
Elcposure keratopathy: Treated with aggressive ICD9
No new neurologic signs occur 365.63 Glaucoma with vascular disorder
lubrication or tarsorrhaphy
376.22 Exophthalmic ophthalmoplegia
ADDITlONAL TREATMENT
ONGOING CARE 747.6 lntraaanlaI arte~ovenous malfoonatlon
General Mflasutas
Law-flow fistulas with few dinicaI manifestations can FOLLOW-UP RECOMMENDATIONS
be observed and may close spontaneoust1. Carotid Patients with CCFs should be seen regularly by their CLINICAL PEARLS
massage is an effective measure for the dosure of ophthalmologist to have a complete eye exam with
law-flow lesions. The patient is instructed to always monitoring of intraocular pressure.. since CCFs can Indirect, low-flow listulas can be difficult to
use the contralateral hand to perform the massage to reopen or develop new feeder vessels. diagnose clinically. In chronic cases where there is
minimize the risk. of permanent ischemic injury to the no threat to the vision dose observation is
brain. DIET acceptable, as spontaneous resolution may occur.
No specific dietary recommendations
Issues for Rmm~l Permanent visual loss may occur from CCFs.
Because of the ocular manifestations. it is common PATIENT EDUCATION Posterior corUcaI venous outflow In CCFIncreases
for an ophthalmologist to make the initial diagnosis. Return with any new recurrent ocular or neurologic the risk of hemorrhagic stroke.
All CC Fs should be referred to a neurosurgeon or symptoms CCFs can recanalize even after surgical intervention.
interventional neuroradiologist for angiography and PROGNOSIS Resolution of orbital signs after successful dosure of
treatment. In approp~ate ca5e$ where the Sffi/ can lnitially, the prognosis for visual function is guarded CCF may take weeks to months to resolve (2)[C[.
be used to approach the CS, an orbital specialist and dependent on the dynamics of the CCF.
may also be involved. With successful dosure of the CCF, long-term
Timing of referral is important Chronic prognosis Is good.
symptomatology is less urgent than more acute
manlfestatlons. In acute lesions, the possibility of COMPUCATlONS
posterior corUcal venous outflow with the attendant loss of vision
risk of hemorrhagic stroke must be considered. Ocular ischemia, including neovascular glaucoma
Permanent neurologic sequelae, including stroke
Death is more often assodated with high-flow,
direct fistulas.
127
CATARACTS
Robert S. Bailey, Jr.
~ BASICS ETIOLOGY
Age related-Most common ~ DIAGNOSIS
Congenital and juvenile:
DESCRIPTION - Part of systemic syndrome HISTORY
Any opacity of the lens. -Isolated Progressive visual loss affecting one or both eyes
-AD Emphasize functional difficulties related to the
EPIDEMIOLOGY patient's activities of daily living
-AR
Incidence Glare and reduced color perception
- X-linked
Most common cause of blindness in the world
Traumatic Type of cataract determines symptoms.
Account for approximately 50% of low-vision cases
Associated with primary ocular disease: Medications-Fiomax or other alpha-1 blockers
in adults over age 40 in the USA
-Uveitis associated with intraoperative floppy iris syndrome
Number of individuals with cataracts in the USA will Systemic diseases
-Glaucoma
increase by 50% by 2020.
- Retinal detachment Trauma
Prevalence - Retinal degeneration Other ocular disease affecting vision
Some evidence of lens opacity found in 96% of - Sclerocornea Visual function prior to cataract development
those over 60 years of age - Microphthalmos
Visually significant cataracts in 5% at age 65 and - Intraocular tumor PHYSICAL EXAM
50% for persons older than 75 in the USA -Norrie's disease Complete ocular exam:
- Persistent hyperplastic primary vitreous (PHPV) - Distance and near vision
RISK FACTORS - Pupillary examination
Exposure to higher intensity of incident or reflected - Retinopathy of prematurity
-Aniridia - Refraction to obtain best corrected visual acuity
ultraviolet light especially ultraviolet-B (UV-B) - Measurement of intraocular pressure
- High myopia
High-energy radiation - Fundus exam concentrating on macula
Associated with systemic disease:
Exposure to high levels of oxygen - Metabolic disorders: Slit lamp exam:
Smoking and tobacco chewing o Diabetes -Cornea:
Genetia o Galactosemia o Clarity or localized opacities
Family history is a risk factor for aging-related o Hypoparathyroidism/hypocalcemia o Endothelial function"""iluttata
cataracts. o lowe's syndrome -Anterior chamber depth
o Wilson's disease -Iris:
Specific genes have not been identified.
- Renal disease: o Pupillary dilation
GENERAL PREVENTION o Alpert's disease o Posterior synechiae
Smoking cessation - Cutaneous disease: - Cataract types:
Brimmed hats and UV-B blocking sunglasses o Atopic dermatitis o Nuclear
No recommendations for the use of nub'itional - Connective tissue/skeletal disorders: o Posterior subcapsular
supplements to prevent or delay cataract o Myotonic dystrophy o Cortical
progression can be made at this time o Marian's syndrome -Abnormalities of lens position
Use of alternate medication in patients taking - Central nervous system: -Zonular instability-phacodonesis
long-term inhaled or oral corticosteroids o Bilateral acoustic neuroma - Pseudoexfoliation
Behavior modification to reduce risk of developing - Down's syndrome DIAGNOSTIC TESTS & INTERPRETATION
type 2 diabetes Environmental exposure: Lab
-Ionizing radiation:
PATHOPHYSIOLOGY oX-ray Glaretesting in patients with glare complaint and
Anatomic location: o Ultraviolet good visual acuity (1)[AI
-Nuclear
o Infrared Imaging
-Cortical
o Microwave Initial approach
- Posterior subcapsular
- Pharmaceuticals: B-scan ultrasonography if fundus obscured to rule
-Mixed
o Steroids out posterior segment disease
-Other:
o Miotics A-scan or laser partial coherence optical biometry
o Capsular (polar)
o Antipsychotics (e.g., phenothiazines) measurement of axial length
o Anterior subcapsular
-Electric Endothelial cell count or pachymetry if endothelial
o Lens epithelial decompensation
- Infectious: disease present
o Retrodots
o Rubella
o Advanced Keratometry readings
- Postsurgical:
Studies have shown that cataracts progress over Corneal topography
o Glaucoma
time. o Pars plana vitrectomy Fluorescein angiography
Other: Optical coherence tomography may be helpful to
- Ectopic lentis diagnose subtle macular pathology.
- lenticonus and lentiglobus Follow-up & special considerations
latest generation lens calculation formulas should
be used in the intraocular lens (lOll selection
process.
128
CATARACTS
Intraoperative events:
. TREATMENT ONGOING CARE - Posterior capsule rupture
-Vitreous loss
MEDICATION FOLLOW-UP RECOMMENDATIONS Complications of 10Ls:
Myd~asls may be used successfully In some patients H Use of 5% solutfon of povidone Iodine In the - Incorrect power
they desire nonsurgical treatment or are not surgical conjunctival sat prior to surgery has been proven - IOL malposition
I
candidates. to reduce risk of endophthaImitis (2)[A) - Uveitis--glaucoma-hyphema syndrome
ADDITIONAL TREATMENT Postoperative regimens of topical antibiotics,
General Measures corticosteroids, and NSAIDs Vlll'/ from surgeon to REFERENCES
Correct refractive error if surgery not indicated surgeon.
1. Pfoff D, Werner J. Effect of cataract surgery on
SURGERY/OTHER PROCEDURES Patient Monitoring
contrast sensitivity and gIare In patients with 20150
o SurgicaI indications: First postOperative mm within 24-48 h
or better Snellen acuity. 1 Cataract Refract Surg
-To improve visual function Final refractive visit between 1 and 4 weeks after 1994;20:62<Hi25.
- SUrgical therapy tor DC\Jiar dlsease (lens-related small-incision surgery and 6-1 2 weeks after sutured
glaumma or uveitis) large-lndslon cataract surgery 2. Ciulla T, Starr M, Masket S. Bacterial
endophthalmitis prophylaxis for cataract surgery:
-To aid with managemental orular disease Posterior capsule opadfication (PCO) inddence An evidence-based update. Ophlha/malogy
- Extracapsular cataract extraction most commonly varies but may he up to 50% by 2 years post
by phacoemulsification (ultrasonic technique) is a
2002;1 09:13--24.
surgety.
preferred method to remove a cataract - Nd:Yag laser capsulotomy effective in restoring
3. Latkany R. Chokshi A. Speaker M, et al. Intraocular
lens calrulations after refraclive surgery. 1 Cataract
o Anesthesia techniques: visual function in patients with sign meant PCO
Refrar:t S11rg 2005;31:562-570.
-General
PROGNOSIS
- Local (regionan:
o Retrobulbar
Cataract surgery has been shown to have a
significant positive impact on vision-dependent ADDITIONAL READING
o Pe~bulbar
function and health-related quaIity all ife.
o Sub-Tenon's Masket S, Chang D, Lane SS, et al. Cataract in the
o Topical with or without intracameral Reduced risk of falls and hip fractures following adult eye: Preferred practiao patterns. San Ffa ndsa~:
cataract surgery AA0,2006
o Technical elements of successful cataract
o 85--90% a1 all patients achieve 20/40 or better
procedure: Congdon N, Chang M, et al. Cataract Clinical types.
-Temporal. appropriately sized dear-<ameal best-corrected visual acuity after surgery. In: Duant!s dinica/ ophtha/moiO!JJ. Tasman W,
incision with suture less architecture 95% without ocular comorbidities achieve 20/40 or Jaeger EA. eds. Philadelphia: Lippincott. Williams
-Use of an ophthalmic vlscosurglcal device (OVD) better -.isual acuity. and Wilkins, 2009;1:73.
to provide protection of corneaI endothelium, Ocular comorbldltles that may affect outcome of Acquired Cataract in Ehlers J, Shah C (eds). The
manipulate tissue, and maintain working space surgery: Wills Eye Manua/13.1 .2008
-Continuous drcular capsulormexls sized to -Amblyopia
overlap the IOL edge -AMD
- Hydrodissection of lens - Diabetic retinopathy
-Nuclear disassembly and emulsification technique - Fuch's corneal dystrophy . CODES
for lens removal -Glaucoma
- Pseudoexfoliation syndrome ICD9
- Irrigation and aspiration of remaining corte11.
-Uveitis 366.04 Nudear nonsenile cataract
- Capsular bag f001tion of the foldable posterior
chamber IOL High-tisk. DOJiar characll!ristics that increase risk. of 366.9 Unspedfied cataract
- Removal of the OVD to minimize postoperative surgical complication: 743.31 Congenital capsular and subcapsular
lOP elevation - Previous eye surgery: cataract
- Assu ranee of watertight incision using sutures if o Prior refractive surgery alters cornea I cuM!Iure
necessary and makes 10LcalOJ lation difficult (3)[A).
o Recent IOL developments: CLINICAL PEARLS
- Very long (high myopia) and very short eyes
- Aspheric op1it IOLs improve functional vision and - Small pupils or eyes with pos11!rior synechia!! Cataracts are the most common cause of world
quality of vision by Improving contrast sensitivity, blindness and will become more prevalent with an
- Sea rred or doucly corneas
decreasing haloes, and improving optical quality. aging population in the USA.
- Zonular weakness
- Toric IOLs reduce spectacle dependence in
- Prior orular trauma Smoking cessation and reduction of UV-B ~posure
patients with corneal astigmatism. - Systemit use of alpha-1 A adrenergic antagonists have been shown to slow cataract progression.
- Monovision and presbyopia-correcting 10Ls are
(Flowmax) Modern cataract surgery is a very successful
strategies used to reduce spectade dependence
COMPLICAnONS operation wtth 95% of patients achieving 20140
after cataract surgery--patient selection critical.
- Presbyopia-correcli ng IOLs: PCO most common event post surgery -.ision or better after surgery in patients with no
o Multifocal other ocular disease.
Sight threatening complications:
o Aceom modative - Endophthalmitis
IN-PATIENT CONSIDERATIONS - Suprachoroidal hem onhage
Nearly all cataract surgery is performed in an - Cystoid macular edema
outpatient setting either in a hospital-based - Retinal detadhment
outpatient surgical fadIity or in a freestanding - Corneal edema
am bulatOIY surge!'/ center. - IOL dislocation
o Inpatient surgery may be necessary if the need arises
for comple11. ocular care, multiple procedures, and
general medical and nursing care, or If there are
multiple ocular conditions.
129
CAVERNOUS HEMANGIOMA OF THE ORBIT
Katherine G. Gold
Imaging of orbits- CT/M Rl
DESCRIPTION HISTORY
Cavernous hemangioma of the orbit is a benign Painless, progressive proptosis DIFFERENTIAL DIAGNOSIS
proliferation of vascular channels which induces Hyperopic shift in refraction Thyroid eye disease
progressive ectasia. Pressure sensation Orbital tumor- schwannoma, hemangiopericytoma,
-This may also occur in the central nervous system, Diplopia solitary fibrous tumors
liver, and thyroid If advanced, vision loss due to optic neuropathy Carotid-cavernous fistula
It is also k.nown as cavernoma Often discovered on imaging for other reasons. i.e., Optic nerve meningioma or glioma
EPIDEMIOLOGY
lnddence
Estimated 4--1 2% of orbital tumors - the most
common orbital tumor in adults
headache
PHYSICAL EXAM
Hertel exophthalmometry for baseline and
comparison
rJ TREATMENT
Surgical resection (orbitotomy) if compression of
Rarely occurs in infants or children Resistance to retropulsion optic nerve, extraocular muscles, or the globe is
Female > male Dilated episcleral vessels evident. Surgery may also be indicated for severe
Choroidal folds on funduscopic exam due to proptosis or for pathologic diagnosis if the identity of
PATHOPHYSIOLOGY the mass is in question. Surgical resection is usually
Although histologically benign, damage is through compression of globe
Evaluate for compressive optic neuropathy: uncomplicated unless located at the orbital apex.
compression of the optic nerve, extraocular muscles,
and the globe itself. - Relative afferent pupillary defect
-Vision loss
EnOLOGY - Color testing
Hamartomatous benign vascular growth -Visual field testing
- Optic nerve edema or atrophy
130
CAVERNOUS HEMANGIOMA OF 111E ORBIT
ADDITIONAL TREATMENT PATIENT EDUCATION ADDITIONAL READING

General IIAHsUI'eS For patients who are being obseMd, they must be
If exposure keratopathy develops due to aware of need for swift evaluation If a change In vision o Cheng JW, Wei RL. Cai JP, et al. Transconjunctival
lagophthalmos, treat with lubrication and follow were to occur orbitotomy for orbital cavernous hemangiomas. Can
call!fully to ensure stability or resolution. J Ophfhalmo/2008;43(2):234-238.
PROGNOSIS
o Vast majority who are observed remain stable over
Sdleuerle AF, Stelner HH, Kolling G, et aI. Treatment
I
time and long-term outcome of patiEntS with orbital
As mentioned above cavernomas. Am J Ophthalmol 2004;138(2):
o Majority with Indications for surgery do well after
237-244.
resection - no ~sk. of recurrence
ONGOING CARE o Weir RE, Evans S, Hajdu SO, et al. The convex retina:
COMPUCATIONS Optical col1erence tomography in hypermetropic
FOLLOW-UP RECOM MENDA110N5 Visual loss shift, without choroidal folds, from lntraconal
OphthaImologist cavernous haemangioma. Orbit 2009;28(6):
Oruloplastlc'orbltal specialist 398-400.
If extends extraorbttally, may req ulre neurosurglcal
Dr otola ryngologic:al consu It
. CODES
ICD9
o 224. 1 Orbital tumot benign
228.09 Hemangioma of other sites
131
CAVERNOUS HEMANGIOMA OF THE RETINA
Gary Shienbaum

None
Imaging
ETIOLOGY Fluorescein angiography is very helpful in confirming
DESCRIPTION the diagnosis
Rare, congenital retinal vascular hamartoma This is a genetic condition.
-Characteristically patients have delayed filling
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS - Plasma/fluorescein-erythrocyte level may be seen
Cavernous hemangiomas of the CNS within saccules
Incidence
Very rare. and cannot be accurately specified as many Cutaneous vascular hamartomas - Characteristic absence of leakage may be
patients are asymptomatic and do not seek observed
ophthalmic care. ~ DIAGNOSIS Neuroimaging (M Rl brain is the preferred imaging
modality)
Prevalence HISTORY
Very rare Pathological Findings
Decreased visual acuity and floaters; however, Sessile rumor composed of multiple, dilated, thin
RISK FACTORS patients are frequently asymptomatic collagenous walled vascular spaces lined by
Family history Seizures, headaches, intracranial hemorrhage, and nonfenestrated endothelium with surface gliosis
Genetics progressive focal neurologic deficits can be observed
in cases involving the CNS (as part of the above DIFFERENTIAL DIAGNOSIS
Sporadic and autosomal dominant forms are Retinal telangiectasis (e.g., coats disease)
recognized. neuro-{)culo-<:utaneous phacomatosis).
Retinal hemangioblastoma
Neuro-oculo-cutaneous phacomatosis: PHYSICAL EXAM Racemose angioma
-Autosomal dominant with high penetrance and Grape-like clusters of saccular dilatations filled with
variable expressivity dark. (venous) blood arising from the inner retina or
-Also referred to as: optic nerve surface
o Familial cavernous malformations ofthe central Overlying gliosis/fibrosis
nervous systems (CNS) and retina Associated epiretinal membranes
o Cavernoma multiplex Enlarged feeding or draining vessels
- Multiple cavernous hemangiomas more likely in characteristically absent
familial cases
Typically unilateral
- Familial cerebral cavernous malformations (CCM)
have been mapped to three loti: 7q2 1-q22
(CCM1), 7p15-p13 (CCM2), and 3q25.2-q27
(CCM3).
132
CAVERNOUS HEMANGIOMA OF THE REnNA
PROGNOSIS Pancurak J, Goldberg MF, FrenkeI M, et al.

. TREATMENT VIsual loss Is uncnmmon. Most padents are Cavernous hemangioma of the retina: Genedc and
asymptOmatic central neiVOus system inwlvement Retina
MEDICATION Nanprogressive; may undergo spontaneous , !1115;5:2 15-220.
Normally no lrl!atment requl red thrombosis Sarraf D, Payne AM, Kitchen ND, et al. Familial
Laser photocoaguIatian and/or ~itrectomy used in No treatment is required cavernous hemangioma: An expanding ocular
select cases of vitreous hemorrhage
COMPLICAnONS
spectrum.Ardi Ophthalma/ 2000;1 18:969-973. C
Singh AD, Rundle PA, Rennie I. Retinal vascular
VItreous hemorrhage tumors. Ophthalma/ Gin NAm 2005;18:167-176.
$ ONGOING CARE Deaeased 111sual acuity secondary to macular
Kitzmann AS, Pulido JS, Ferber MJ, et al. A splice
location
FOLLOW-UP RECOMMENDAnONS mutation in CCM1/KRIT1 is assodall!d with retinal
EpiretinaI membrane formation and cerebral cavernous hemangioma. Oph rhalm/c
Ophthalmologist lntraaanlal hemorrhage secondary to cavernous
Neurologlca Vneurosurglcal cnnsu ltadon
Genet 1006;27:157-159.
hemangioma of the CNS
Dermatologic consulliltion
PAnENT EDUCAnON
ADDinONAL READING CODES
Saeening required for systemic and familial
involvement. Gass JDM. cavernous hemangioma of the retina: A ICD9
- Detailed family history, ophthalmologic, neuro-oculo-culilneous syndrome. Am 1 Ophthalma/ 228.03 Hemangioma of retina
neurologic Ondudlng neurolmaglng studies), and 1971;71:799-8t4. 757.31 Vascular hamartomas
dermatologic examinations Goldberg RE, Pheasant TR, Shields JA. Ca~emous 759.6 Other congenilill hamartases, not elsewhere
- First-de9ree relatives should be saeened if hemangioma of the retina: A four-generation dassifled
diagnosis of neum-ocultrwtaneous phacornatosis pedigree with neurowtaneous manifestations and
suggestive by patient examination or family history an example of bilateral rednalln'<lvement Ard!
Ophtha/mo/ 1979;97:2321-2324. CLINICAL PEARLS
Dobyns WB, Michels W, Groover RV, et al. Familial
cavernous malformations of the central nervous The grape-nte duster seen with fluorescein
system and retina. Ann Neuro/ 1987;21 :578-SU angiography with dassicfluorescein and el)1hrocyte
levels is typical of this disease.
133
CAVERNOUS SINUS SYNDROME/ORBITAL APEX SYNDROME
Robert J. Granadier
Mass, inflammation, or vascular lesions in the region of
the cavernous sinus, superior orbital fissure, or orbital
~ DIAGNOSIS
DESCRIPTION apex causing dysfunction of the nerves in that area by HISTORY
direct compression, inflammation, or ischemia. Binocular double vision
Orbital apex syndrome: A constellation of findings Reduced vision
including combined motor and sensory deficit of ETIOLOGY
Pain
the eye and orbit secondary to multiple etiologies: Inflammatory
Pathology involving the oculomotor nerve {Ill), Proptosis
Infectious
trochlear nerve {IV), abducens nerve. (VI), and the Neoplastic PHYSICAL EXAM
first division of the trigeminal nerve (V1) in Traumatidiatrogenic Best corrected visual acuity
association with decreased optic nerve {II) function Decreased pupil reactivity with afferent pupillary
Vascular
{1)[B] defect
Cavernous sinus syndrome: orbital apex syndrome COMMONLY ASSOCIATED CONDITIONS Color vision/brightness
plus second branch of trigeminal nerve (V2) without Infectious
Cranial nerve examination
optic nerve involvement Fungal: aspergillosis, mucormycosis Decreased extraocular motility (multiple patterns)
Superior orbital fissure syndrome: cavernous sinus Bacterial: Staph, Strep, mycobacterium TB Oculomotor and abducens nerve most frequently
syndrome minus optic neuropathy Inflammatory: sarcoidosis, systemic lupus involved
erythematosus (SLE), giant cell arteritis, Wegener's Decreased sensation face, periorbital skin, cornea
EPIDEMIOLOGY granulomatosis, idiopathic orbital pseudotumor
lnddence (Tolosa-Hunt syndrome) Orbital examination: lid position, resistance
Rare keratopathy associated with neurotrophic cornea
local neoplastic: meningioma, nasopharyngeal
(severe cases may require tarsorrhaphy.)
Positive correlation between the number of cranial carcinoma, pituitary adenoma, squamous cell Ca
nerves involved and presence of cavernous sinus Metastatic neoplastic: lung, breast, renal cell,
syndrome (2)]B] malignant melanoma . TREATMENT
RISK FACTORS Vascular: carotid cavernous aneurysm or fistula,
cavernous sinus thrombosis (septic or aseptic) ADDITIONAL TREATMENT
Diabetes
Immunosuppression Iatrogenic: endoscopic sinus surgery Issues for Refe"al
Trauma: penetrating injury, orbital fracture, foreign Infectious disease: referral for inpatient internal
Cancer
body medicine and infectious disease management
Trauma Intraorbital mass with intracranial pathology refer to
Sinus surgery neurosurgery or oculoplastic surgery for biopsy,
endocrinology for glucocorticoid management/
replacement, infectious disease as necessary
Inflammatory referral to rheumatology/immunology
for treatment and ongoing care
Possible radiation therapy (RT), stereotactic RT.
134
CAVERNOUS SINUS SYNDROME/ORBITAL APEX SYNDROME
COMPLEMENTARY & ALTERNATIVE REFERENCES

THERAPIES ONGOING CARE
1. Yeh S, Foroozon R. Orbital apex syndrome. Cuff
Immunosuppression for inflammatory lesions induding
S'leroids, methotrexate, azathioprine (lmuran), tumor
FOLLOW-UP RECOMMENDATIONS Opn Ophtha/mo/2004;1 5:49D-49ll.
In patients with infectious disease within 1 week of 2. Un CC, Tsal JJ. Reladonsh lp between the number
necrosis factor alpha therapies (3)[8]. (4)[C). discharge with infectious disease and orbital of involved cranial nerves and the percentage of
SURGERY/OTHER PROCEDURES surgeon or neuro-<Jphthalmology. lesions located in the cavernous sinus. Eur C
In patients with Inflammatory lesions 1 week with OphtJuJimo/ 2003;49:98-1 02.
SurgicaI biopsy may be required for deiinitive
rheumatology, orbitaI surgeon or neuro- 3. Bray WH, Giangiacomo J, Ide CH. Orbital apex
diagnosis of undertying etiology (5))8).
ophthalmology syndrome. Surv Ofiltha/mo/1967;3 2:13 6-140.
Aggressive surgicaI debridement required for 4. Wilson ww, Shergy WJ, Haik BG. lnfliximab in the
treatment of orbital mucormycosis Patient MtNJJf:Drlng
Monitor vision, corneal sensation, proptosis, and treatment of recalcitrant idiopathic orbital
Exenteration (surgical removal of all orbital pattern of extraocular motility dysfunction inflammation. O{iltha/ Plast Reconstr Surg
contents) may be required if patient is at risk for 2004;20(5):381-383.
cavernous sl nus thrombosis secondary to greater DIET 5. Schick U, Hassler W. Neurosurgical management of
than SO% risk of death assodated with septic A!. per medical consultants
orb!taI Inflammations and Infections. Acta Neurolo
cavernous sinus thrombosis. PATIENT EDUCATION (Wein) 2004;146:571--sliO.
IN-PATIENT CONSIDERATIONS Patierrts with reduced vision and decreased corneal 6. Barahimi B, Murchison AP, Bily~ JR. Forget me not.
Initial Stabiliztion sensation must be educated to be aware of Increased Surv Ophthalmo/ 201 0;55:467-480.
Diabetes: mucorrnycosls---1ntensllle care medical redness, swelling, and discharge as signs and
stabilization of blood sugar and ketoacidosis, and symptoms of corneal decompensation, secondary to
initial antifungal therapy prior to any surgical exposure, and possible infection with the ultimate risk . CODES
management of perforation and perm anent visual loss or in extreme
Septic cavernous thrombosis requires emergent cases loss of eye. lCDI
Inpatient management PROGNOSIS 376. 11 Orbital granuloma
Admission Criteria Related to underlying etiology 377.9 Unspedf!ed disorder of optic nerve and visual
EvidenCl! of sinus disease in diabetic patient COMPUCATIONS pathways
consistent with fungal sinusitis Visual loss secondary to optic atrophy 437.6 Nonpyogenlc thrombosis of Intracranial
Signs of sepsis, or infection, ketoacidosis, Orbital scarring with nestrlctlve extraocular muscle venous sinus
h)perosmolar states. hyperglycemia dysfunction and diplopia.
Discha1r1e Criteria Retinal (macular) ischemia seronda ry to steal
CLINICAL PEARLS
Ability to treat with outpatient therapy, oral antibiotic, phenomenon in carotid-cavernous (CQ fistula
or antifungal therapies 6th Nerve palsy with Horner's ~drome localizes to
the anterior cavernous sinus.
Divisional 3rd nerve palsy localizes to anterior
cavernous sinus/orbital apex.
Any diabetic must rule out mucormycosis
135
CAVERNOUS SINUS THROMBOSIS
Behin Barahimi
Ann P. Murchison
Jurij R. Bilyk
~ BASICS
CST secondary to cavernous sinus fiStula: An Signs of orbital congestion and possible cellulitis are
abnormal communication forms between the often present Eyelid edema and erythema,
cavernous sinus and either the intracavernous exophthalmos (proptosis), chemosis, external
DESCRIPTION internal carotid artery or a smaller caliber ophthalmoplegia, afferent pupillary defect, optic
Cavernous sinus thrombosis (CST) is a potentially intracranial arterial branch. Thrombus may form nerve swelling, retinal venous congestion or
life-threatening condition. because of the turbulent flow in the cavernous sinus tortuosity (see also section on orbital cellulitis)
The etiology of CST can either be septic, aseptic, or or from spontaneous closure of the fistula (5)[C].
vascular.
ETIOLOGY Lab
Septic CST is an infectious thrombophlebitis that Head and neck infections
develops as a sequela of head and neck infections. Initial lab tests for suspected septic CST
Hypercoagulable states Complete blood count with differential
The most common soui'O!s include the paranasal
sinuses (ethmoid and sphenoid), periodontal Vasculopathic Coagulation profiles (PT/PTT/INR)
abscesses, parapharyngeal abscesses, facial Head and neck trauma Blood cultures
infections (furuncles, boils), and middle ear Iatrogenic Culture of the inciting infectious nidus
infections (1)[CJ, (4)[C]. COMMONLY ASSOCIATED CONDITIONS lumbar puncture: If signs of meningitis
In the pre-antibiotic era, septic CST was universally See etiology Follow-up It special considerations
fatal. With current treatment mortality has been Suspected septic CST is a medical emergency. Admit
~ DIAGNOSIS
reduced to 30% (1 )[C], (2)[C]. for immediate intravenous antibiotic therapy and
Aseptic CST can occur from hypercoagulable states further workup.
or direct injury from trauma or surgery. Imaging
HISTORY
CST may also occur from a cavernous sinus Initial approadl
The most common presenting symptom is headache.
arteriovenous fistula, typically fed by branches of the Detecting CST on imaging is difficult and clinical
Focal neurologic deficits may be present. In cases of
internal or external carotid arteries, or both. suspicion often guides the radiologist in finding the
septic CST there is usually a history of a recent head
EPIDEMIOLOGY or neck infection. subtle changes. The first study obtained is usually a
The most common etiology of CST is vascular from a Paranasal sinus infections have nonspecific CT scan, as it is readily available. Frequently, indirect
cavernous sinus fistula. symptoms. Ask directed questions about nasal signs of CST are more readily identifiable. Any
CST is rare and there are no data on incidence. congestion, purulent nasal discharge, a history of enlargement of the SOV. unilaterally or bilaterally,
chronic sinusitis, and recurrent headaches raises the suspicion of CST. With contrast injection, a
RISK FACTORS heterogeneous filling of the venous plexus within
Most patients presenting with bacterial septic CST Symptoms of other head and neck sources should be
sought: Toothache, recent dental work, ear pain, the cavernous sinus is suggestive of CST.
are otherwise healthy individuals. Imaging is also important in identifying occult
sore throat, and facial furuncles
In aseptic CST, risk factors include genetic or sources of infection such as ethmoid and sphenoid
acquired prothrombotic conditions such as Any predisposing immunosuppressive conditions,
including diabetes. ketoacidosis. malignancy, sinusitis. mastoiditis from middle ear infection,
polycythemia. siclde-cell anemia. leukemia. odontogenic abscess, and parapharyngeal abscess.
antiphospholipid syndrome. Factor V Leiden. chemotherapy, and primary or acquired
immunodeficiency states MRl may be a useful adjunct to CT.
malignancy, oral contraceptives. and pregnancy. Septic CST is frequently a clinical diagnosis.
CST from a fistula typically occurs in two patient History of hypercoagulability in the patient or family
members Neuroimaging is helpful for confirmation of the
groups: Those with a history of head or neck trauma diagnosis and identification of an occult infectious
(typically younger males) and older patients with Recent or distant head trauma
nidus; however, because of the lack of absolute
vasculopathic risk factors. PHYSICAL EXAM sensitivity, it should never be used exclusively to rule
Genetics For septic CST, highly variable and frequently out the possibility of septic CST.
No specific genetic cause of CST is known. indistinguishable from orbital cellulitis In CST from a fistula. initial orbital color Doppler
Genetic causes of hypercoagulable and External ophthalmoplegia may or may not be may show reversal of flow in the SOY.
immunosuppressed states apply when indicated. present and may manifest from several etiologies If CST from a cavernous sinus fistula is suspected, a
Orbital congestion from decreased venous egress six-vessel (both internal and external carotid
GENERAL PREVENTION from the superior ophthalmic vein (SOV) into the arteries, both vertebral arteries) arteriogram is
Prompt treatment of head and neck infections cavernous sinus may cause a mechanical recommended for elucidation of abnormal flow and
Genetidhematologic testing in patients with family ophthalmoplegia to assess for the presence of posterior cortical
history of hypercoagulable conditions Orbital inflammation from orbital cellulitis may venous outflow, which increases the risk for
Control of vasculopathic risk factors result in external ophthalmoplegia. hemorrhagic stroke (5)[C].
Avoidance of head and neck trauma Cranial nerve paresis of Ill, IV. V1, V2, VI may be Follow-up It special considerations
PATHOPHYSIOLOGY present from direct involvement of the cavernous Close clinical follow-up is mandated.
Septic CST: The venous anatomy of the face is sinus or orbital apex. If the neurologidophthalmologic exams deteriorate,
directly connected with the valveless veins of the Trigem inaI dysfunction is highly atypical in pure repeat imaging should be performed to rule out
skull base (orbit, pterygopalatine fossa, cavernous orbital cellulitis. If present, this finding raises the progression of CST to intracranial abscess formation.
sinus), which then openly communicates with the possibility of septic CST. meningitis. or hemorrhagic stroke.
deeper central venous sinuses. This facilitates Bilateral orbital cellulitis is very uncommon.
infectious spread from superficial structures into the Conversely, sequential bilateral septic CST lumbar puncture if signs of meningitis are present.
deeper venous plexuses (1)[C]. manifesting as bilateral orbital congestion is
Aseptic CST: Deformation of the sinus wall or common. Therefore, "bilateral orbital cellulitis" Pathological Findings
turbulent flow within the sinus from trauma or should immediately raise the suspicion of septic CST Pathologic specimens are rarely taken from the
surgery on adjacent tissue can cause thrombus (4)[C]. cavernous sinus.
formation (3)[C]. In hypercoagulable states, an error Dental caries/abscess Culture of infectious nidus: Bacteria are the most
in the clotting cascade can prompt thrombosis. Pharyngeal erythema, edema, or abscess common cause with Staph1ococcus aureus in 69%
Signs of middle ear infection and Streptococcus sp in 17%. Fungal infections with
Mucor and Aspergillus sp also occur (1)[C].
Facial cellulitis, furuncle, or boil
136
CAVERNOUS SINUS THROMBOSIS
DIFFERENTlAL DIAGNOSIS o Aseptic CST: Admission for neurologic monitoring For septic CST:
Oibftal cellulltfs and anticoagulation -Intracranial Infections: Meningitis, encephalitis,
Carotid cavernoos flsrula Admission Criteria and empyema formation
Dural sinus liswla All suspecl!!d patients need admission.
0 rbital apex syndrome IV Fluids REFERENCES
Idiopathic orbital inflam matnry syndrome Hydration is important in all cases of CST.
I
Idiopathic granulomatous cavernous sin us 1. Barahlml 8, Murchison AP, Bilyk JR. Forget me not.
Inflammation (Tolosa-Hunt syndrome) Nui'Sing Surv Ophthalmo/ 201 0;26(4):295-297.
Close neurologic monitoring Is needed. 2. Stam J. Thrombosis of the cerebral veins and
Discharge Criteria sinuses. Ne~~ Eng J Med 2005;352: 1791-1798.
TREATMENT Septic CST: Treatment and nesolution of underlying 3. Fisher c, et al. Cerebral venous sinus thrombosis in
cause, transition to oral antibiotics, and stable the emergency department Aretrospective analysis
MEDICATION neurologic exam of 11 case and review ar literatllre. J Emerg Med
RI'StLine Aseptic CST: Stable neurologic exam whh 201 0;38(2):14D-147.
Septic CST: Broad-spectrum Intravenous antlblotlcs therapeutic oral anticoagulation 4. Pavlovich P, Looi A. Rootrnan J. Septic thrombosis
Yfith a thfrd generation cephalospo~n and o CST secondary to fistula: Eviden<e of fistula closure of cavernous sinus: Two different mechanisms.
vancomycin are started initially (l)[C]. The antibiotic either spontaneously or from inteM!ntion Orbit 2006;15:39-43.
regimen is tailored once a specific pathogen has
been identified. Since antibiotic sensitivity takes 5. Chaudhry lA, et al. Carotid cavernous fistula:
several days, pol!!ntia I resismnce should be covered Ophthalmological implications. Middle East Afr J
ONGOING CARE Ophthalmo/ 2009; 16(2):57-63.
du~ng empiric therapy.
If fungal organ isms are suspected, systemic FOLLOW-UP RECOMMENDATIONS
antifungal therapy should be smrtl!d empirically. Septic CST: Dependl ng on cause of Infection ADDITlONAL READING
Aseptic CST: Anticoagulation should be initial!!d in follow-up with ophthalmology, oral surgery, or
hypermagulable states. Hemorrhagic stroke is a risk otolaryngology. Continue oral antibiotics for at least Southwick FS, Richardson EP. Jr. Swartz MN. Septic
regardless of anticoagulation (1)[C), (3)[C). 14 days and possibly up to 6 weeks. thrombosis of the dural venous sinus.
If a cave~ sinus arteriovenous malformation is Anticoagulation, if used, should be continued for a Medir:ine(Baltimore) 1986;65:82-1 06.
suspected, anticoagulation should be avoided and minimum of 2 weeks and up to 6 weeks (1)](). Bhatla K. Jones NS. Septic cavemous sinus
angiography should be performed. Aseptic CST: Fo Ilow-up whh hematology and thrombosis secondary to sinusitis: are
internaI medid ne for therapeutic anticoagulation anticoagu Iants indicated? A review of the literature.
SacondUne o Instruct patients to conmct health care providers if J Laryngo/ Otd 2002;116:667-676.
Septic CST: Antic.oagu Iatian may be offered to the new or worsening symptoms develcp.
patient based on Indirect evidence. Diaz JM, Sd1 iffma n JS. Urban ES. et al. Superior
Anticoagulation has been shown to have some Patient Monitoring sagittal sinus thrombosis and pulmonary embolism:
benefrt in the treatment of aseptic central venous Septic CST: Once underlying Infection has resolved a syndrome rediS<overed. Acta Neuml Scand
no a>ntlnoous monlto~ ng Is necessary beyond 1992;86: 39D-396.
sinus thrombosis.
Two retrospective studies have conduded that there 3 months unless cranial neuropathies persist. Einhaupl KM, Villringer A. Meisl!!r W, et al. Heparin
may be some benefit in decreasing morbidity and o Within the first 3 months. there is a theoretical risk treatment in sinus venous thrombosis. lanret
of recurrent infection from bacl!!rial sequestnation 1991;338:597--&10.
mortality.
Hemormagic stroke is a risk of septic CST, with or within the thrombus. Starn J, Canhao P, Fal cao F, et al. Anticoagulation
without anticoagulation (l)]C]. Aresidual cranial neuropathy should be followed for cerebral sinus thrombosis (Codirane Review).
conservatively for at least 6 months to allow for The Codmme Ubrary Issue 3, 2004.
ADDITlONAL TREATMENT improvement Levine SR. Twyman RE, Gil man S. The role of
Cienenll MNSUIU o Aseptic CST: Need lil!!long monitoring to ensure anticoagulation in cavernous sin us th rom basis.
All patients suspected af CST need admission. anticoagulations remain therapeutic Neurology 1988;38(4):517-522.
Issues far Referral CST from fistula: Monitor for 3-6 months to assure
Consult infectious disease, otolaryngology, that a flsrula does not reform
ophthalmology, neurosurgery, and hematology when DIET
. CODES
clinically indical!!d. Dietary restriction depends on the antibiotic and
anticoagulation used. ICD9
Additionl ntetapies
Corticosl!!rnids are necessary if pituitary 325 Phlebitis and thrombophlebitis of intraaanial
PATIENT EDUCAnON venous sinuses
insufficiency develops to prevent adrenal <risis. Obtain geneticJhematnlogic testing if there is a
The use of corticosll!rnids to decrease edema caused 376.01 Orbital Cellulitis
family history of thrombotic events. 995.92 Sepsis
by inflammation is controversial. o If there is a history of CST, conmct health care
SURGERY/OTHER PROCEDURES provider immediately if new or recurrent neurologic
The need for surgica I inl!!rvention is dependent on symplllms dewlcp. CLINICAL PEARLS
the cause of CS1 PROGNOSIS
Septic CST: Drain source of infection Septic CST is a rare but pol!!ntia lly lethal condition
o Septic CST has a guarded prognosis, with an
Cave~ sinus fisrula: esti matl!d mortality of 30%. that may initial~ present with subtle symptoms and
- Arte~ography for diagnosis and possible
radiographic findings. Early diagnosis and treatment
o SO% of patients who survive will be left v.ith
Intra-a nerlal closure decrease potential morbidity and mortality
permanent neurologic sequelae (1 )[C). In the cases of septic CST where the externaIexam
- Atransvenous approad1 th mug h the SOV may be Patients with CST secondary to flsrula do well If the
helpful in selected cases (S)[C]. is nonnal, be suspidous for paranasal sinus.
listu Ia is successfully dosed. periodontal. or parapharyngeal infections
IN-PAnENT CONSIDERATIONS COMPUCAnONS Isolated aseptic CST from hypermagulablllty Is rare.
lnithll Stlllbiliztion For all forms of CST: Usual~. CST is seen in conjunction with thrombosis
Septic CST: Admit to ICU, dose neurologic - Cranial nerve palsy, Including optic neuropathy in the larger central venous sinuses (2)[C]
monitoring. intravenous antibiotic, and possible with visual loss CST and SOV thrombosis ocaJr in the setting of
anticoagulation - Pituitary insufficiency cavernous sinus fistula. Arteriography is needed for
Cave~ sinus fistula with thrombosis: Admission - Hemorrhagic infarction definitive diagnosis and management
for arteriography -Death
137
CENTRAL AND BRANCH RETINAL ARTERY OCCLUSION
John B. Davies
~ BASICS Other collagen vascular disease includes systemic

lupus erythematosus. polyarteritis nodosa,
Wegener's granulomatosis.
Approximately 25% of eyes with CRAO have a
patent cilioretinal artery, which arises from tile
choroidal circulation. This may lead to macular
DESCRIPTION Vasospasm sparing and resultant preservation of some visual
The central retinal artery exits the optic nerve to Dissecting aneurysm function (2).
provide blood supply to the inner retinal layers. Relative afferent pupillary defect is often present,
Trauma
Occlusion of eitller the central retinal artery or one especial~ with CRAO.
Hypercoagulable states: Antiphospholipid antibody
of its branches leads to acute, painless, monocular syndrome, oral contraceptive use, polycythemia For CRAO: Whitening and opacification ofthe inner
vision loss. retina in the posterior pole with a cherry red spot in
Syphilis
RISK FACTORS Beh~t's syndrome the central macula
Hypertension For BRAO: Whitening and opacification of the inner
Sickle cell anemia
Diabetes mellitus retina in the vascular territory affected. Cotton wool
~ DIAGNOSIS
Carotid artery atherosclerosis spots may also be seen
Cardiac valve disease Embolic material may be present in retinal arterioles.
Hypercoagulable states Retinal vessels may appear poorly perfused, with
HISTORY boxcarring of the blood column.
PATHOPHYSIOLOGY Acute, pain less. monocular vision loss
Loss of perfusion leads to retinal ischemia and BRAD may present with loss of vision, a scotoma, DIAGNOSTIC TESTS & INTERPRETATION
infarction in tile associated vascular territory. visual field deficit, or may be asymptomatic. Lab
CRAO typically causes profound vision loss. Complete blood count with platelets
ETIOLOGY There are chances of possible history of preceding Erythrocyte sedimentation rate
Embolus.
transient vision loss. C-reactive protein
-Types of emboli:
-Cholesterol emboli (hollenhorst plaque)- yellow In patients over 50 years old, headache, jaw Fibrinogen
and refractile claudication, scalp tenderness. or fatigue may Lipid profile
- Platelet-fibrin emboli- chalky white suggest giant cell arteritis. Fasting blood sugar
- Calcium emboli (often from cardiac valves) PHYSICAL EXAM Otller tests in certain situations:
-Fat emboli Blood pressure - Prothrombin time/activated partial thromboplastin
- Cardiac myxoma Listen for carotid bruit and cardiac murmurs time
- Septic emboli (from endocarditis) For BRAO, visual acuity depends on the location of - Rapid plasmin reagin
-Talc emboli (intravenous drug users) the obstruction, and may be normal. - Fluorescent treponema! antibody absorbed
Intravascular thrombosis: For CRAO, usually it occurs -Antinuclear antibody
Approximately 90% of eyes with CRAO have visual
at the lamina cribrosa of the optic nerve. - Rheumatoid factor
acuity between count fingers and light perception
Vasculitis. Giant cell arteritis accounts for 1-2% of (1). - Serum protein electrophoresis
cases of CRAO. - Hemoglobin electrophoresis
- Antiphospholipid antibodies
- Homocysteine
- Hypercoagulable work-up in select situations
138
CENTRIL AND BRANCH RETlNAL ARTERY OCCWSION
Imaging ADDmONAL TREATMENT PROGNOSIS

FluOI'escein angiography may reveal delayed arteriolar Issues for Referrel Longterm visual prognosis for CRAO !s poor.
filling or delayed arte~ovenous tr.~nslt tl me. Patients are referred to a p~mary care provider for For BRAO, many eyes wt II reawer visual acuity to the
Diagnostic PtoaduteS!Other complete medical evaIuation and for vascular risk level of 20/40 or better.
Carotid ultrasound factor management. COMPLICATIONS
Echocardiogram (consider trans-esophageal study) SURGERY/OTHER PROCEDURES Neovascular glaucoma
I
Electrocardiography Anterior chamber paracentesis Other complications may occur from ocular
Temporal artery biopsy If giant cell arteritis Is Ocular massage: In an attempt to dislodge embolus neovascularlzatlon, such as vitreous hemorrhage.
suspected and move It downstream
VisuaI field testing The role of thrombolytic agents in the management
of CRAO is not clear (4). REFERENCES
Ophthalmic artery occlusion: Suspect if there is 1. Brown GC, Magargal LE. Cent!ill retinal artery
associated optic disc edema and In cases of llght ONGOING CARE obstruction and visuaI acuity. Ophrha/mo/ogy
perception vision or wor:se. 1982;89:14-19.
FOLLOW-UP RECOMMENDATIONS 2. Brown GC, Shields JA. Cil ioretinal arteries and
Repeat eye examination in 1-4 weeks. retinal arterial occlusion. AtdJ Ophrha/mo/
. TREATMENT - Assess for development of neovascula~zatlon of 1979;97:84-92.
the Iris. This may occur In approximately 20% of 3. Duker JS, et al. A prospective study of acute central
MEDICATION eyes with CRAO, usually after 4-S weeks {3). retinal artery obstruction. 1he inddence of
FimLine Neovascularization of the optic disc or retina also secondary ocular neovascularization. Arch
In general, treatment options for CRAO and BRAO occurs, atthaugh more rarely. Ophrhlllmo/ 1991; 109:339-342.
are Iimited. - If neovasculalization develops. proceed with 4. Biousse V. Thrombolysis for acute central retinal
Medication is prescribed to decrease intraOOJiar retinal panretlnal photocoagulation. artery ocdusion: is it time7Am J O{ilthalmol
pressure: Either topical drops 01' oral acetazolamide. - Consider intravitreal pharmacotherapy with 2009;148:172-173.
If giant cell arteritis is suspected, systemic steroids is antivascular endothelial growth factor agents.
Immediately started to deaease the risk of second Patient Monlmrlng
eye involvement. Monitor for worsening vision, development of eye pain . CODES
- Or.ll prednisone 1 mg/kg per day or intiCM!nous (which could arise from neOIIaSCular glaucoma), and
methylprednisolone 250 mg per 6 h any vlsuaI changes In the contralater.~l eye. ICD9
SecondUne 362.30 Retinal vascular occlusion, unspecified
Consider aspi lin 362.31 Central retinal artery occlusion
362.32 Retinal arte~al branch occlusion
139
CENTRAL CORNEAL ULCERS
Rajesh K. Rajpal
Gitanjali B. Baveja
~ BASICS
Infectious: Bacterial, fungal, viral, acanthamoeba Lab
Noninfectious/sterile: Neurotrophic, autoimmune Initial lab tests
DESCRIPTION related, corneal exposure (inadequate eyelid closure) Corneal cultures: Scrapings obtained from border of
Local epithelial defect with degradation or infiltrate and placed on specific culture media
inflammation of underlying tissue COMMONLY ASSOCIATED CONDITIONS
Infectious ulcer: Contact lens abuse/overwear. Can use Kimura spatula or moistened calcium
Synonyms: Corneal infiltrate. infectious or alginate swab
noninfectious keratitis trauma
Neurotrophic keratitis: VII nerve palsy, herpes Blood agar: Aerobic bacteria (S. aureus, 5.
EPIDEMIOLOGY simplex, herpes zoster epidermidis, S. pneumoniae, P. aeroginosa),
lnddence Sterile ulcer: Rheumatoid arthritis, systemic lupus saprophytic fungi, Nocardia
Bacterial keratitis erythematosus, Wegener's granulomatosis, Chocolate agar: Aerobic and facultative bacteria
30,000 cases annually in the United States Sjogren's syndrome W. gonorrhea, H. influenzae, Bartonella)
10--30 cases per 100,000 of contact lens wearers Exposure keratopathy: Thyroid orbitopathy Thioglycollate broth: Aerobic, facultative, anaerobic
per year (United States) bacteria
~ DIAGNOSIS
Thayer-Martin agar: Neisseria
Prevalence
Varies greatly geographically Lowenstein-Jensen agar: Mycobacteria, Nocardia
Secondary variable is etiology HISTORY Nonnutrient agar with f. coli overlay:
Elicit comprehensive history of contact lens wear if Acanrhamoeba
RISK FACTORS Follow-up ll special considerations
Contact lens use applicable including extended vs daily wear,
storage/disinfecting methods, swimming with Central ulcers should be cultured prior to starting
Compromised host factors: Ocular surface disease topical antibiotics.
lenses, exposure to any source of water, including
Inadequate eyelid closure or apposition tap water, lake, pond, etc. Also culture if ulcer is nonresponsive to topical
Corneal hypoesthesia Recent trauma to the ocular surface including antibiotics
Systemic autoimmune diseases (less likely to be acid/alkali burn Imaging
central) History of dry eyes Slit lamp photography can document size and density
GENERAL PREVENTION Comprehensive review of systems (especially of infiltrate.
Contact lens hygiene autoimmune diseases) Diagnostic Procedures/Other
Preventing compromise of epithelium PHYSICAL EXAM Special stains include gram stain (bacteria), Giemsa
Sufficient lubrication Eyelid examination to determine adequate closure. stain (Ch/am}fiia, Acanthamoeba, Acid fast stain
Surgical correction of eyelid abnormalities apposition, trichiasis (Myrobacteria), Calcofluor white IA.canthamoeba)
Control of acute inflammatory state in autoimmune Conjunctival injection Corneal biopsy if unresponsive to treatment
diseases Tear film insufficiency Confocal microscopy fAcanrhamoeba)
PATHOPHYSIOLOGY Epithelial loss (fluorescein staining)
Breakdown of epithelium Density and size of stromal infiltrate
Marked inflammatory response: Leukocyte Thinning of stromal tissue
infiltration (usually neutrophils) Anterior chamber cell and flare
Degradation of extracellular matrix: Prolonged Hypopyon
activation of plasmin, matrix metalloproteinase
secretion
140
CEfiTRAL CORNEAL ULCERS
Gram pos!dve: S. aureus, Coagulase Negative
Staph. StreptOCOUS pneumonJae, SrreptOCrJCCUS
SmndUm~
If unresponsive and culture negative consider
acanthamoeba, fungal keratitis. atypical organisms.
(f) ONGOING CARE
viridians, Corynebacterium diphtheriae. Acanrhamoebd: Topical ophthalmic Neospotin, FOLLOW-UP RECOMMENDATIONS
PropionibadMum. Mycobacterium, Bad/Ius cereus PHMB, hexamidine, chlorhexidine Daily follow-up until lesion is stabilized
Gram negative: Pseudomonas, Serratia, Proteus Fungal keratitis: Topical natamydn 5%, Criteria of stabilization: Healing of overlying
mirabUis, H. influenzae, Moraxe/la, Neisseria amphol!!ridn B, imidazoles (voriconazole, epithelium, resolution of hypopyon, deo'ease in C
Fungal: Candida, Fusarium, Aspergllus, Curvularla, ltraconazole, ketoconazole, clot~ mazole, density of Infiltrate. no further thinning of cornea,
Mucor, Rhizopus fluconazole) improvement in visual acuity, symptomatic
Aanthamoeba Nontuberous mycobacteria: Amikacinfclarithromycin improvement
Neurotrophic keratitis 20-40 mglml
Herpes simplex keratitis Nocardia: Amikadn 2Q-40 mglml ADDITIONAL READING
Exposure keratopalt1y ADDmONAL TllEATMENT
Auto! mmune diseases (p~ ma~ tj perltiferaJ corneal Baum J, Barza M. The evolution of antibiotic therapy
General MNSUteS for bacteria Iconjunctivitis and keratitis. Cornea
ulcer): Rheumatoid arthritis, Systemic L.u pus Cycloplegic agent helps with pain and prevents
Erythemalll5is (SLE), Wegener's granulomatosis, 2000;19(5):659-672.
synechiae: Homatropine 5% b.i.d., isopto-hyosdne Charukamnoetkanolc P, Pineda R. Controversies In
col lagen vascular diseases 0.25% t.i.d., atropine 1% q.i.d. management of bacterial kl!ratitis./nt 0/iftha/mo/
Topical ointment or gel a1 bedtime: Clin 2005;45(4): 199-21 0.
. TREATMENT Clloxan/erythrornydrvbacltradn ointment, Loh AR, Hong K. LeeS, Mannis M, Acharya NR.
alilt1 romycin (viscous drop) Practice patterns in the management of fungal
MEDICATION Issues for Referral corneal ulcers. Come.a 2009;28(8):85H59.
Fimline Refer to cornea specialist if: Acharya NR, Srinivasan M, Mascarenhas J, et aI. The
4th-generation fluoroquino!one: 1 drop every 15 Unable to culture steroid controversy in bacteria I keratitis. Aid!
min for the 1st hout then per hour around the dock Unresponsive to treatment (24-48 h) Ophrha/mol 2009;127(9):123 1.
4th generation: Moxifloxadn, gatifloxad n, Progressive lesion Kaye S, Tuft S, Neal T, et al. Bacterial susceptibility
besnloxacin Atypica I infiltrate to topical antimiaobials and dinical outcome in
Others: Ciprofloxacin, !evof!oxacin 1.5% bacte~al keratitis. Invest Ophrhal Vlsu.W Sd
For severe or nonresponsive infiltllltt!: Fortified Addlflonel Thereplfn 201 0;51(1):362-368.
topical antibiotics can be prepared by the pharmacy. Systemic antibiotics for Neisseria
Fordfled vancomyc!n 25-50 mg/ml com b!ned with Systemic antlfungals for Acanrhamoeba
fonlfled tllbramyc!nlgemam!dn 9-14 mg/ml or . CODES
combined wilt1 fortified ceftazid ime so mglmL
Regimen can be modified according to culture ICD9
resu!tslsusceptibility l!!sti ng. 370.00 Corneal ulcer, unspecified
370.03 Central corneal ulcer
141
CENTRAL RETINAL VEIN DCCWSIDN (CRVD]
Kamalesh J. Ramaiya
Gaurav K. Shah
~ BASICS
RISKFAOORS PHYSICAL EXAM
CRVO has been associated with primary open angle A complete ocular examination Including
glaucoma, systemic hypertension, diabetes mellitus, gonioscopy and dilated funduscopy at the initial and
DESCRIPTION oral contraceptive use, vasculitis, blood dysaasias. follow-up visits should be performed in all patients
An obstJuction of blood flow through the central dotting disordeJs, autoimmune disorders, and suspected of having CRVO.
retinal vein. It commonly presents with a variable trauma. -Clinically, this condition presents with diffuse
level of decreased or blurred vision. Increasing levels of physical activity, moderate flame-shaped intraretinal hemorrhages in all four
- Can be classified as one of two clinical subtypes, alcohol consumption, and exogenous estrogens quadrants of the retina (Blood and Thunder
i.e. ischemic or nonischemic, which differ in their (in women) have been shown to be protective. appearance). Dilated and tortuous retinal vessels
presentation, clinical course, and prognosis (1)[C] may be present, as well as disk edema, cotton
PATHOPHYSIOLOGY wool spots, and retinal edema. Optociliary shunt
Geriatric Considerations The exact mechanism of pathogenesis is unknown.
The overwhelming majority of central retinal vein vessels, optic atrophy, and macular retinal
The occlusion is thought to occur at the level of the pigment epithelial changes may occur late in the
occlusions (CRVOs) occur In older individuals, with lamina cribrosa of the optic nerve secondary to a
over 90% of patients >50 years of age. course of the disease.
thrombotic event, though this has been questioned Occasionally CRVO will present after the
Pediatric Considerations (2)1C). development of neovascularization, which manifests
Pediatric cases of CRVO are rare. Most cases of CRVO Factors predisposing to this location include the itself as vitreous hemorrhage, rubeosis (anterior
in patients younger than 30 years have a definable dose approximation of the central retinal vein and segment neovascularizationl. or neovascular
underlying etiology such as a hypercoagulable state; arteJy which share a common adventitial sheath, glaucoma.
however. CRVOs have been reported in otherwise and hemodynamic changes secondary to Signs of an ischemic CRVO Include poor visual acuity
healthy children. atherosclerosis ofthe central retinal artery. (<201200), a diminished 8-wave on ERG,> 10 disk
Stagnant blood flow results in hypoxia and damage areas of nonperfusion on fluorescein angiography,
~'regnancy Considerations
to the capillary endothelium causing leakage of and the presence of an afferent papillary defect.
Venous occlusive disease in the setting of blood constituents.
uncomplicated pregnancy and the absence of a The vena-occlusive event causes an increase in DIAGNOSTIC TESTS INTERPRETATION
hypercoagulable state Is rare but has been described, levels of vascular endothelial growth factor (VEGF). Lab
typically as a papillophlebitis that resolves Vision loss can be due to secondary macular edema, Laboratory testing is not needed to make the
spontaneously. Recent studies have shown higher macular Ischemia, or neovascularlzation and its diagnosis.
rates of spontaneous miscarriages in women with a sequelae. No further workup Is necessary In older (>50 years)
history of CRVO (28%), compared to the general US individuals with known vascular disease.
population (15%). CRVO has also been described in ETIOLOGY All individuals under the age of 50 without a
the setting of pre-eclampsia, a disorder seen in up to Most age-related CRVOs are associated with preexisting underlying etiology require a workup for
5% of pregnancies. hypertensive or diabetic vasculopathy or increased a systemic cause.
intraocular pressure. -This may initially include CBC, chemistry profile,
EPIDEMIOLOGY Vein occlusion in a younger patient necessitates fasting glucose and/or glucose tolerance testing,
Incidence further workup for a hypercoagulable state or other hemoglobin A1c, and lipid profile.
Second to diabetic retinopathy, retinal vein less common etiology. - In addition, testing for a hypercoagulable state
occlusions are the most frequently encounteJed may include homocysteine, protein C, protein S,
retinal vascular disorder. Branch retinal vein COMMONLY ASSOCIATED CONDmONS
Systemic vasculopathy is often a comorbidity. antithrombin Ill, anticardiolipin antibodies,
occlusions (BRVO, see a separate chapter on this) antiphospholipid antibodies, lupus anticoagulant
are more common than CRVOs. -Diabetes is present in 5-10%
- Hypertension is seen in >50% of patients (DRWT), ANA. SPEP. activated protein C
-Occurs in 2-a per 1000 persons resistance, factor VIlle. factor V leiden, and
-The 15-year cumulative incidence is 0.5% as per
~ DIAGNOSIS
prothrombin variant 2021 OA.
the BeaVeJ Dam Eye Study
- Most commonly encountered in the 60- to Imaging
70-year-old age group, but can occur at all ages HISTORY Fluorescein angiography shows a delayed
- Males and females are equally affected A targeted history should be elicited from the arteJio-venous transit time as well as diffuse
-There is a 5-10% risk of the fellow eye becoming patient, specifically inquiring about the risk factors capillary leakage. Ischemic CRVOs will show
involved In 5 years listed above. > 10 disk areas of retinal capillary nonperfusion.
- Symptoms vary on presentation, and mild cases Optical coherence tomography (OCT) is useful in
Prevalence assessing the presence of macular edema.
Affects an estimated 2.5 million people worldwide. may be asymptomatic. However, most will present
- Prevalence Is approximately 0.8 per 1000 persons. with gradual or sudden vision loss, blurring of Diagnostic Procedures/Other
vision, and photophobia. Those presenting after Electroretinography shows a decreased 8-wave
development of neovascular disease may (negative ERG), decreased bright flash, more
complain of pain, redness. and epiphora. pronounced in the ischemic variant.
Perimetry can also be useful in determining the
ischemic subtype of the vein occlusion.
142
CENTRAL REllNAL VEIN DCCWSION (CRYD)
Pathological Findings ADDmONAL TREATMENT REFERENCES

Early CRVOs may demonstrate Intraretinal edema Issues for Referl'el
retinal hemorrhages, dis!( swelling. and cystOid ' Coordination of care with the patient's p~mary 1. Haymore JG, Mejico U. Retinal vasoJiar occlusion
mawlar edema. physician is important for optimization of the patient's syndromes. tnt Ophthalmol Clln 2009;49(3):63-78.
0ld CRVOs may show disorganization of the retinal cornorbid systemic medical conditions such as 2. Hayreh SS. Pathogenesis of occlusion of t11e central
layers (especially inner), retinal hemosiderin hypertension. retinal vessels. Am J Ophtha/mo/ 1971;72(5):
998-1011.
I
deposits, and prl!fetinal fibrosis and neovascular
SURGERY/OTHER PROCEDURES 3. The CentraI Vein Occlusion Study Group. Natural
membranes.
PRP remains the mainstay of treatment for history and clinical management of central retinal
DIFFERENTlAL DIAGNOSIS neovascular dlsease resulting from cRVO, as per the vein occlusion. Arch Ophtha/mo/ 1997;115(4}:
Orular ischemic syndrome results of the central vein ocdusion study (CVOS). It 486-491.
Diabetic retinopathy should be noted that prophylactic PRP has not
shown to be of benefit in preventing 4. Brown OM, Campochiaro PA, Singh RP, et al.
Hypertensive retinopathy Ran ibizumab for macular edema following centraI
Hypervlscoslty s~rome neovascularization.
retinal vein occlusion six-month primary end point
Anterior iscl1emit optic neuropathy -If neovascular glaucoma Is present a combination resu Its of a phase Ill study. The CRUISE
Papilledema
of treatments with anti.YEGF agents and
panretinal photocoagulation may be of benefit lrwestlgators. Ophthalmology 2010, In press.
Retinal vasoJiitis (6)[C]. 5. lp MS, Scott IU, vanveld huisen PC, et al. A
Radiatioll retinopathy Pars plana vitrectomy with or without internal raf!domi~d tria! ~paring the efficacy and safety
of 1ntrav1treal triamcinolone with observation to
fl TREATMENT
limiting membrane peeling, endovascular
administration of tissue plasminogen act!wtor
radial optic neurotomy, and laser-induced
chorioretinal anastomoses, are all surgical
'
treat vision loss associated with macular edema
secondary to centraI retina I vein occlusion: The
standard care vs corticosteroid for ret! nal vein
MEDICATION occlusion (score) study report S. Arch
FlmLine procedures that have shown mixed resu Its in terms
Ophthalmology 2009;127(9): 1101-1 1t 4.
~anagement of retinal vein occlusion typically of efficacy, but are sometimes utilized in refractory
cases of CRVO. 6. Gheith M, Siam G, de Barros D, Garg SJ, Moster M.
1nvolves treatment of neovascular com pi ications and Role of intravitreaI bevadzumab (Avastin) In
macular edema resulting from the Initial event neovascular glaucoma. J Ocul Pharmacd T1Jer
Historically, medical management of CRVO has been $ ONGOING CARE 2007;23(5):487-491.
limited and primary therapy was panretinallaser FOLLOW-UP RECOMMENDATIONS
photocoagulation (PRP) for neovascular After the Initial event. patients should be followed
complications (see the Surgery section below) (3)[A]. monthly for the first 3 months, then every 3 months . CODES
Recent studies have demonstrated efflcac:y of for the first year.
intravitreally administered drugs in improving -A dilated fundusi!Xamination and gonioscopy ICD9
macular edema and improving and/or stabilizing should be performed at each follow-up visit. 362.3 5 Central retinal vein occlusion
visual acuity in patients with CRVO. htient IIOtJitoring
- Avastin (bevacizumab) is a humanized monoclonal
antibody against VEGF that is injected into the
ocr.
'visual fields. and fl uoresceln angiography may be CLINICAL PEARLS
useful adjunctive tests to follow this condition.
vitreous cavity. It has been FDA approved for The character1stlc findings on clln leal exam lnadon
intravenous use in the management of certain PROGNOSIS are multiple, diffuse lntraretlnal hemorrhages
cancetS; however, it has been sua:essfully utilized As shown in the CVOS. initial visual acuity is throughout the retina.
intravitreally for CRVO. strongly correlated with final visual outcome. A.thorough search fur an unde~ying systemic
- Lucentis (ranibizumab) is also an anti-VEGF Many nonlschemlc CRVOs will spontaneously etiology must be performed in younger patients
antibody approved for ophthalmic use that Is resolve and have lower rates of vision loss. presenting with this condition.
injected into the vitreous cavity. Recent studies - 10% of patients eventually develop Panretlnal photocoagulation Is the primary thetapy
including the CRUISE triaI have shown its effiCacy neovascularization. after the development of neovascularization.
for CRVO (4)[A]. The overall prognosis is worse in patients with an Newer intravitreal therapies for managing secondary
- Kenalog (triamcinolone) is a steroid suspension ischemic CRVO. macular edema are emerging.
that can be injected intravitreally or into the - < 15% will have a visual acuity better than
subtenon's space. Though not approved for 20/400 after 1 year
ophthalmic use, its efficacy in improving marular - 40% of patients eventually develop
edema has been demonstrated in the SC0 RE trial neovascularization
(S)]A]. COMPUCA110NS
- Ozurdex (di!Xamethasone, 0.7 mg) is a slow VIsion loss due to a variety of reasons:
release Implant that Is Injected Into the vitreous - Macular ischemia
cavity. - Macular edema
SecondUne - Neovascu lar disease, induding glaucoma
Other medications are presently under investigation Complications secondary to comorbid systemic
for use in vein occlusions. vascular disease or a hypercoagulable state
- VEGF-trap is a fusion protein which binds to the
VEGF-A and placental growth factor. Clinical trials
are presently underNay to determine its efficacy in
vein occlusions.
- Combination treatments of the above medical
therapies and surgical therapies (see below) are
also being studied.
143
CENTRAL SEROUS CHORIORmNOPATHY
Gary Brown
A retinal pigment epithelial detachment, or other leak
at the retinal pigment epithelium level, facilitates the
Intravenous fluorescein angiography typically
DESCRIPTION leakage of plasma into the subretinal space. demonstrates a focal area of hyperfluorescence
Central serous chorioretinopathy, also called corresponding to a retinal pigment epittlelial
central serous retinopattly or idiopathic central ETIOLOGY
Plasma from the choroid travels through damaged detachment leaking plasma into the subretinal
serous retinopathy, is an ocular condition space.
characterized by: retinal pigment epithelium and into the subretinal
space. -A smokestack" pattern of leakage can be seen
- Serous retinal detachment, typically seen in the as the fluorescein dye rises within the subretinal
macular region The cause of ttle leak is uncertain, although
space in 20% of cases.
- One or more retinal pigment epithelial glucocorticosteroids have been implicated in select
- Fluorescein leakage may be sufficient to produce
detachments, which are generally less than cases.
hyperfiuorescence throughout the entire retinal
300 microns across, are responsible for ttle An association with He/icobacter pylori was noted in detachment.
leakage of plasma into the subretinal space. one paper, but this association needs confirmation. - In more chronic cases. one or more linear streaks
- Signs and symptoms are limited to the eye. COMMONLY ASSOCIATED CONDITIONS of guttering, characterized by retinal pigment
- Rarely, bullous central serous chorioretinopathy Central serous chorioretinopattly is often associated changes can be seen. This occurs secondary to
can be associated with a large serous retinal with a "type A personality profile chronic subretinal fluid tracking inferiorly.
detachment with shifting subretinal fluid. Retinal Recent use of glucocorticosteroids Optical coherence tomography generally reveals a
pigment epithelial leaks in this variant are typically retinal pigment epittlelial detachment associated
greater than 500 microns across.
~ DIAGNOSIS
with a larger area of overlying serous retinal
EPIDEMIOLOGY detachment.
lnddence A serous detachment of the sensory retina is seen in Pathological Findings
Men outnumber women by a factor of 6:1. the macular region with ophthalmoscopy. A serous. sensory retinal detachment associated with
The mean annual age-adjusted incidence per a smaller retinal pigment epithelial detachment.
Subretinal precipitates can be seen on ttle underside
100,000 for men is 9.9 (95% confidence interval of the retina in select cases.
[Cii, 7.4-12.4). DIFFERENTIAL DIAGNOSIS
The presence of subretinal and/or intraretinal blood Entities in the differential diagnosis for central
The mean annual age-adjusted incidences per rules out ttle diagnosis of central serous serous chorioretinopattly include those which can
100,000 for women is 1.7 (95% Cl, 0.7-2.7). chorioretinopathy. produce serous detachment of the sensory retina in
Approximately two-third of fellow eyes followed for The anterior segment is uninvolved. the posterior pole.
10 years demonstrate some evidence, (although - Neovascular macular degeneration, age-related or
Intravenous fluorescein angiography discloses one
often asymptomatic) of central serous from other causes
or more leaks at ttle level of the pigment epithelium.
chorioretinopathy. - Polypoidal choroidal vasculopathy
The leaks are often difficult to see
The entity is most typically encountered in patients ophthalmoscopically. - Subretinal or intraretinal fluid associated with a
aged 25-50 years. congenital pit of the optic nerve head
Leaks can occur superiorly to the posterior pole view.
Recurrence: Thus, the fluorescein angiographic photographer - Shallow rflegmatogenous retinal detachment
-Approximately 30% of cases will experience a should take at least 1 frame in this region. - Severe hypertensive retinopathy with serous
recurrence retinal detachment due to hypertensive
-The median time of recurrence is 1.3 years HISTORY choroidopattly
- Recurrences have been seen from 3 months to Patients most often complain about a gray or black - Posterior retinal detachment with macular hole
18 years spot centrally -Posterior retinal detachment with high myopia
RISK FACTORS Micropsia is also often present and posterior retinal break
Metamorphopsia is present in two-third of affected - Harada's disease
Use of corticosteroids
eyes - Nanophthalmos with serous retinal detachment
Type A personality profile
A history of severe stress (losing a loved one, a - Serous retinal detachment associated wittl
Cushing's disease choroidal metastasis
house, or a job) may be present
Genetics The use of some form of corticosteroid (oral, - Serous retinal detachment associated wittl
No genetic or hereditary association has routinely injected, or topical) may be present choroidal melanoma
been described. Among patients with a diagnosis of Cushing's
PHYSICAL EXAM disease, 5% of patients have one or more episodes
GENERAL PREVENTION Ophthalmoscopic examination demonstrates a
Since central serous chorioretinopathy appears to be of documented central serous chorioretinopathy. The
serous detachment of the sensory retina, most often cases seem to occur during episodes of
associated with the classic type A personality profile, involving the central macular retina.
patients should at least be informed of the hypercortisolism.
Subretinal precipitates may be seen on the
association. underside of the detached sensory retina.
Patients should be cautioned about the association Retinal or subretinal blood is not seen with this
of glucocorticosteroid use and central serous entity. If blood is present. consider neovascu lar
chorioretinopathy. macular degeneration.
144
CENTRAL SEROUS CHORIORETlNOPATHY
Gemenetzi M, De Salvo G, Lotery AJ. Central serous

. TREATMENT ONGOING CARE chorloretlnopathy: An update on pathogenesis and
treatment. Eye (Lond). 201 0;24(12):1743-17 56.
ADDITIONAL TREATMENT FOLLOW-UP RECOMMENDATIONS Artu.nay o, Yuzbasioglu E, Rasier R. et al. lntravitreal
GeflfiRIII lrfNSUrN Ophthalmologist bevac:izumab in treatment of idiopathic persistent
Approximately 85% of cases demonstrate Low vision if vision is decreased in both eyes.
Annual visits if stable.
central serous chorioretinopathy: A prospective,
controlled clinical study. Curr Eye Res. 201 0;35:
C
spontaneous reabsorption of the subretinal fluid
within 4 months. 91-9!1.
PROGNOSIS
Laser photocoagula1ion can be considered in those Wang et al. noted that aver 90% of eyes regain Loo RH, ScottiU, Flynn HW Jr, et al. Factors
cases in wl1idl the subretinal fluid has not vision of 20/30 or better by 6 months. assodated with reduCI!d visuaI acuity during
reabsorbed within 3-4 months. long-term follow-up of patients with idiopi11hic
Although most retina specialists treat leaks at the
- Laser photocoagulation results In reabsorption of level of the retina I pigment eplthell urn If the serous central serous cho~oretlnopi11hy. Rerfna 2002;
the subretinal fluid 2 months earlier than no retinal detachment is still present a1 3-4 months. a 22(1):19-24.
thelllpy, although the visual results are similar long-term prospective clinical trial with Levell Wang M, Munch IC, Hasler PW, et al. Central serous
with treatment and without treatment In a Level A evidence (type 1 error < 0. 05, and type 2 error dlorloretlnopathy. Acta Ophtha!mologc. 2008;
randomized, cl inicaltrial by Robertson and llstrup. <0.20) does not exist. 86:126-145.
- Light laser phDIO!Da!Julation using At I0 )'I!aIS, persistence of a retinal pigment
t OD-200 micron spot sizes can be applied to the epithelial detadlment, persistent subretinal fluid,
leaking retinal pigment epitheliaI detachment(s). and recurrences resulted In a greater chance of . CODES
-Follow-up by Yap and Robertson at 11-15 years having vision less than 20/40.
disdosed that none of 6 eyes treated with laser ICD9
photocoagulation had a rea.mence, while 17132 COMPLICATIONS 362A1 Central serous retinopathy
(53%) eyes that did not undergo laser therapy had It is questionable whether laser therapy results in a
at least 1 recu rrenCI!. higher incidenCI! of subsequent dloroidal
- Remember that the laser scars can enlarge neovascularization. CLINICAL PEARLS
considerably over a decade or more, resulting in
late vision loss. Be certain to look at the optic nerve with slit-lamp
In instanCI!s in wl1idlthe leak is closer than ADDinONAL READING blomIcroscopy to rule out the possibility of a serous.
macular retinal detachment occurring secondary to a
7SO mlaons from the center of the foveal avasadar Killmann AS, Pulido JS, Diehl NN, et al. The congenital pit of the optic disc. Pits of the optic disc
zone, haIf fluenCI! photodynamic thetapy can be inddence of centraI serous cholioretinopathy in
utilized. can be missed with indirect ophthalmoscopy.
Olmsted County, Mlnnesota, 1!HI0-2002. If any retina I blood and/or subretl nal blood Is
lntravltreal bevaclzumab has also been shown to be O{iltha/mo/ogy 2008 Jan;11 S(1): 169-173. present. the most probable diagnosis is choroidal
of therapeutic benflit (Level B non -randomized Bouzas EA. Scott MH, Mastoralcos G, e1 al. Central neovascularization.
clinical trial. Artunay et al.). serous dlorioretinopathy in endogenous Chronic central serous retinopathy may eventually
SURGERY/OT11ER PROCEDURES hypercortisolism.Atd! Ophtha/mo/. 1993;111: lead to neovascular age-related macular
Surgery has not been shown to be of benefit 1229-1233. degeneration years later.
Robertson DM, llstrup D. Direct. indirect, and sham Consider early, aggressive laser therapy to the larger
laser photocoagulation In the management of retinal pigment epithelial leaks seen in association
Cl!ntral serous chorioreti nopathy. Am 1 OJilthalmol with bullous Cl!ntral serous chorioreti nopathy.
1983;95:457-466.
Yap EY, Robertson DM. The long-term outcome of
Cl!ntral serous chorioreti nopathy. Arch Ophtha/mo/
1996;114(6):689-692.
Lim JW, Klm MU. The efficacy of lntravltreal
bevacizumab for idiopathic central serous
chorioretinopathy. Graefes Arrh CHn Exp
Ophthalmol. 201 1;249(7):969-974.
145
CHAlAZION
Edward H. Bedrossian Jr
~ BASICS ETIOLOGY
Obstruction of the meibomian glands either from the
bacteria (S. aureus, Strep) and/or from the associated
Imaging
CT scan orbit if suspect orbital cellulitis
DESCRIPTION inflammation.
A chalazion, or internal hordeolum, is a localized Diagnostic Procedures/Other
inflammatory papule of the posterior eyelid due to COMMONLY ASSOCIATED CONDITIONS Biopsy recurrent lesions to rule out meibomian gland
obstruction of the meibomian (sebaceous) glands. In Chronic bacterial blepharitis carcinoma
contrast, an external hordeolum or stye, is an Chronic allergic blepharoconjunctivitis Pathological Findings
inflammatory lesion of the anterior eyelid due to Chronic keratitis sicca Zonal granulomatous inflammatory reaction. Central
obstruction of the glands of Moll (sweat gland) and Acne Rosacea clear space, surrounded by histiocytes and Langhans'
Zeis (sebaceous). Lid malposition multinucleated giant cells, surrounded by PMNs.
Lid trauma leukocytes, plasma cells, and eosinophils. Asteroid
EPIDEMIOLOGY
bodies and Schaumann bodies may also be present.
Incidence
Most common eyelid lesion ~ DIAGNOSIS DIFFERENTIAL DIAGNOSIS
Meibomian gland (sebaceous cell) carcinoma
RISK FACTORS HISTORY Preseptal cellulites
Poor lid hygiene Tender swelling, erythema (acute) Adenovirus conjunctivitis
Acne Rosacea Non tender eyelid lump (chronic) Pyogenic granuloma
Dry eye syndrome Exposure to dusty environment
GENERAL PREVENTION Blurred vision (possible induced astigmatism)
Good lid hygiene PHYSICAL EXAM
Treatment of rosacea (oral tetracycline) Eyelid swelling and erythema (acute, subacute)
Treatment of dry eye syndrome Localized eyelid tenderness
PATHOPHYSIOLOGY Well-defined subcutaneous lid nodule (chronic)
Obstruction of the meibomian gland orifice prevents Blocked meibomian gland orifices
normal egress of sebaceous holocrine secretion at the Associated blepharitis or acne rosacea
lid margin, eliciting a lipogranulomatous foreign body
reaction.
146
CHAWION
o Ben Simon GJ, Huang L, Nalaa T, 1!1 al. lntrali!sianal

. TREATMENT ONGOING CARE trlamdnolone acetonlde Injection for p~mary and
recurrent chalazia: Is It effective? 0/irfhalmology
MEDICATION FOLLOW-UP RECOMMENDATIONS 2005;112(5): 913-7.
RrstLine Every 2 weeks as outpatient to monitor progress.
Warm compresses q.i.d x 2 weeks (1 0 min each) PROGNOSIS
I
Sulfacetamide 10% 1gtt. q.i.d x 2 weeks or Excellent. . CODES
prednisolone 0.2%/sulfacetamide 10%, if no
COMPUCATlONS ICD9
contra indication to topical steroids
Entropion 373.2 Chalazion
Alternative: lladtradn or erythromycin ointment b. i.d
Lid scar
SecondUne 373. 12 Hordeolum intemum
SurglcaI Incision and curettage
Triamcinolone acetonide intralesional injections ADDITIONAL READING
CLINICAL PEARLS
ADDITIONAL TREATMENT o Bagheti A. Hasani HR. Karimian F. et al. Effect of
d1alazion excision on refractive error and corneaI Most common inflammatOIY lid lesion
General Measunn
8lopsy recurrent lesions topography. Eur J O/ilfhalmol2009;19(4):521-4i. Recurrent chalazia need biopsy to rule out
Goawalla A. Lee V. Prospective randomized meibomian gland cardnoma
lssuu for Refe,.l
treatment study comparing three treatment options
Recurrent lesion
for chalazia: Triamd nolone acetonide injections,
Suspect meibomian gland ca rdnoma indsion and OJnrttage and treatment with hot
Tneatment of acne rosacea com presses. Clin Experiment Ophthalmo/2007;
35(8):706-12.
147
CHEMICAL BURNS
Harminder S. Dua
Dalia G. Said
~ BASICS
Acids penetrate tissue less readily (except In the intenmediate stage, if some limbal or
hydrofluoric acid). The hydrogen ion causes damage conjunctival epitheliumsurvives, re-epithelization
by pH change and the anion causes protein commences. The cornea may be covered by corneal
DESCRIPTION precipitation and denaturation, which in turn retards or conjunctival epithelium. If no epithelium survives,
Injury that follows exposure of the ocular surface or penetration of acid. the ocular surface is covered by a centripetally
adnexa to solid, liquid, or gaseous form of corrosive Chemical penetration Into the anterior chamber advancing fibrovascular pannus. Recanalization of
substances such as adds and alkalis or irritants such lowers aqueous ascorbate and glucose. Low some of the damaged blood vessels may lead to
as oxidants. solvents, reducing agents, and alkylating ascorbate concentrations are related to subsequent further hemorrhages. lnHammatory cell infiltration
agents. retarded collagen synthesis. occurs and can later lead to stromal melts and
EPIDEMIOLOGY ulceration.
ETIOLOGY
In the late stage of moderate to severe bums, the
Incidence Chemical burns can be caused by acids, bases,
cornea is covered by a fibrovascular pannus.
Chemical burn to the eye represents 7-10% of eye oxidants, solvents, reducing agents, and al kylating
injuries. Superficial and deep vascularization, stromal
agents. They can also be caused by chemical weapons
ulceration, persistent epithelial defects can lead to a
Burns to the face are reported to involve at least such as mustard gas or urticants such as phosgene
descemetocele and perforation. loss of nerves may
1 eye in 15--20% of cases. oxide.
lead to a neurotrophic state with repeated healing
Chemical burns are largely accidental, 73.9% beilg and breakdown of the surface.
work related. In a smaller proportion they result
from an assault.
~ DIAGNOSIS - Conjunctival repair may lead to symblepharon,
subepithelial fibrosis with progressive contracture
It is more common in men than women. related to HISTORY leading to forniceal shortening and lid margin
increased occupational and industrial exposure in History is the key to diagnosis. Nature of the defonmities such entropion, trichiasis, and
men. chemical can be ascertained if a sample is lagophthalmos with exposure. Tear film
The incidence ratio of add bum to alkali burn ranges available. abnormalities due to loss of goblet cells (mudn)
from 1:1 to 1:4. - pH testing of the conjunctival sac using a pH paper and obstruction of orifices of the lacrimal or
strip will help differentiate adds from alkalis. accessory lacrimal ductuies (aqueous) may
RISK FACTORS
Symptoms: Pain, photophobia, lacrimation, and manifest. This can lead to keratinization of the
Certain occupations: Ocular chemical burn is visual impainment. Blepharospasm may supervene.
reported to account for 3-4% of occupational cornea and conjunctiva. Cicatricial stenosis or
injuries. PHYSICAL EXAM occlusion of the lacrimal puncta may occur and
Besides the eye(s), the surrounding skin of the face offset a dry eye state.
Noncompliance with health and safety regulations, - Retrocorneal or cyclltlc membranes and fibrosis of
e.g., inadequate or Inappropriate use of protective and scalp or further afield may also be involved and
occasionally injury to the oral mucosa and the ciliary body can lead to persistent hypotony
eye wear and clothing and phthisis. On the other hand, scarring in the
respiratory and gastrointestinal tracts related to
GENERAL PREVENTION inhalation or ingestion of chemicals can threaten life. drainage angle and peripheral anterior synechiae
Safety goggles with side shields should be worn when can lead to intractable glaucoma.
Clinical manifestations are described in three stages
working with chemicals or caustics or helmets with (1): Immediate effects of the injury, extending from Secondary infection can occur at any stage.
safety goggles for workers with occupational exposure
to chemicals. Appropriate masks or breathing onset to 1 week postinjury; Intermediate, DIAGNOSTIC TESTS & INTERPRETATION
representing the host healing response from the end Diagnortlc Proc.du~Ws/OtiHir
apparatus should be used when working with noxious
of week 1 to week 3; and Late, representing Eyes with chemkal burns must be graded at the first
fumes or gases.
changes associated with repair, regeneration, or lack opportunity. Dua's classification indicating the
PATHOPHYSIOLOGY thereo( number of clock hours of limbal involvement and
The severity of the burn depends on the nature of - Ocular surface epithelium: There may a central percentage of conjunctival involvement is
the substance and the duration of exposure. Alkalis corneal abrasion with an intact limbus or the recommended (2).
cause more damage than acids. limbus may be partially or totally involved. Varying Clinical appearances can be deceiving and change
Tissue damage occurs through denaturation and areas of the conjunctiva too may be involved. rapidly.
coagulation of the cellular proteins as well as Umbal and conjunctival involvement is more -Total corneal and limbal epithelial loss can be
vascular ischemia. common in the inferior half. Fluorescein staining is associated with a clear cornea.
The high pH (hydroxyl ion content) of alkaline helpful in determining the extent of abrasion. -A clear cornea with a good view of the iris can
agents causes saponlflcatlon of the fatty elements of - Limbus ischemia: Presents as sectors of blanched rapidly become hazy or opaque.
cell membranes with cell disruption and death. or pale limbus with associated necrosis and -An initially "stable" cornea may develop stromal
Cations react with carboxyl groups of stromal hemorrhage. Injured blood vessels appear as dark thinning or melting within hours, especially after
collagen and the interfibrillary glycosaminoglycans columns of blood with no visible flow. the first week.
resulting in hydration with thickening and - Corneal stroma: May be hazy or opaque and thick - Intraocular pressure (lOP) can be difficult to
shortening of stromal collagen and hydrolysis of with folds or striae secondary to endothelial measure with the Goldman tonometer or
glycosaminoglycans. Loss of glycosaminoglycans involvement. Corneal sensations may be impaired. Tonopen. An irregular and thick. cornea can
renders the collagen susceptible to enzymatic - Anterior chamber: The iris may show injection, produce erratic readings. Digital palpation may be
digestion and degradation. Alkalis, especially hemorrhage, necrosis, and pigment dispersion. the only reliable method In some cases.
ammonia and sodium hydroxide, penetrate tissue The pupil response may be sluggish or absent. The - Secondary infection may have an atypical
rapidly and are more likely to damage deeper lens may be intumescent and ciliary body damage presentation.
structures within the anterior chamber. can manifest as hypotony. Clogging of the
trabecular meshwork with inflammatory debris
can result in raised pressure.
148
CHEMICAL BURNS

. TREATMENT 0 varve shunts or cydoablilllon to control pressure.
The latter can inaease intraocular inflammation 1. McCulley JP. Chemical injuries. In: The Comea:
MEDICATION o Lens extraction if lens is swollen and causing pupil Sdentific Foundation and CliniCdl Practice. Smolin
FirstUne bloc~ G, lhoft RA,. eds. Boston, MA: Little. Brown &: Co.,
o Chec~ pH of conjunctival sac with a pH filter paper o Mucus membrane and amniotic membrane graft to 1987:527-S42.
I
strip. Instill a topical anesthetic agent. Keep eye(s) cornea and conjunctiva 2. Dl.la HS, King AJ, Joseph A. New classification of
open v.fth a speculum, keep room lights dim, and lid surgel'f to address entropion, ectropion, ocular surface bums. Br J Ophtha/mo/ 2001;85:
perform copious irrigation with normal saline. trichiasis, or lagophthalmos 1379--1383.
balanced saIt solution, or Ringer's lactate. Use o Seq uentiaI sector conjunctival epitl1eliectomy (SSCE)
approximately t-2l over 3Q-40 min delivered to prevent conjunctival epithelium from migrating an
tluough an intravenous tube with free flow. to the cornea In partial corneal burns or to remove . CODES
- Recheck pH. If around 7, stop irrigation and conjunctival epithelium that has already encroadled
examine conjunctivaI sac right up to fomites by on to the tomea ICD9
double evert!ng the upper lid. Remove any Auto or allo limbal transplants On cases with total 940.2 AI ka line dlemicaloom of cornea and
particulate matter and excise devitalized tissue. stem cell deficiency). Avoid use of autollmbal or conjunctivaI sac
- Recheck pH after a 2o-min interval. Chern iiJIIs Iiving related dooar tissue in the early to o 940.3 Acid chemicaI bum of cornea and conJunctivaI
may leach out of tissues and alter pH. If less or intermediate stages as the risk of losing the sat
greater man 7, recommence irrigation. transplanted tissue In the ongoing Inflammatory
Second Une reaction is high.
o Lubrication: Preservative-free artificial tear drops o Transplant of ex vivo expanded sheets of limbal or CLINICAL PEARLS
and ointment oral mueos<~l cells o Early elimination of the injurious agent is the key to
o Anti-inflammatory: Steroid drops. Be wary of steroid o Corneal graft procedures should be considered only success.
use in the presence of melting. after tl1e cornea is repopulated with limbus derived Documentation of epithelial and limbal involvement
o Antibiotics: drops or ointment epithelial tells. Some form of immunosuppression is by photographs or diagrams and grading of burns Is
o Asmrbate: 10% drops 2-4 times a day. Can cause usually required postoperatively. useful to monitor progress.
pronounced stinging and may not be tolerated. OraI o Any epithelial (conjunctival) cover of tl1e cornea is
tablets 2 g q.l.d. better than no epithelial cover.
o Sodium citrate: a patent inhibitor of
ONGOING CARE
o lOP monitoring may be difficult but is very important.
polymorphonuclear proteases. 10% drops. PROGNOSIS o Steroid drops help to control infla mmillion but may
4-6 times a day. Oral doxycydlne (protease o The more superticial the burn, the better the exacet"bate melting.
inhibitor) 50 mg twice a day prognosis.
o Atropine 1% or cydopentolate 1% b. i.d. Avoid o 12 cloc~ hours of limbus involvement witl11 DO%
phenylephrine as it can exacerbate ischemia by conjunctival involvement (grade VO [Dua's
vasoconstriction. dassification] has t11e worst prognosis.
o lOP lowering: dreps. e.g., timolol 0. 25% twice a day
if needed. Oral acetazolamide tablets 250 mg q.i.d. COMPLICAnONS
o Lid deformities
may be preferable especially If there Is ma rk.ed
o Dryeyes
pigment dispersion and AC inflammatian.
o Extensive symblepharon
o Pain management attorning to .severity
o Llmbal stem cell deficiency
ADDITIONAL TREATMENT o Corneal vascu larizatian and scanring
General Measures o Secondary infection
Pu nctal plugs: if tear film is inadequate o Glaucoma or phthisis
o lid taping: to reduce exposure and in the presence
Cataract
of stromal melts o Disorganization of anterior segment
Conformer ring: to limit or avoid symblepharon
o Severe visual impairment induding loss of eye
formation
luues for Referral
o Most chemiiJII bums are mild and can be managed
in the primary care setting.
o Severe bums witl1 extensive limbal and ante(IOI'
dlamber involvement should be referred to a
specialist tenter.
Additi011al Therapies
o Autologous serum drops: 2D-1 DO%, 4 to 6 times a
day
Acetylcysteine 20%, fibronectin, epidermal growth
factor, sodium or caldum EDTA (0.2 moij
subconjunctival heparin and athers have been tried
149
CHIASMAL DISORDERS
Rod Foroozan
~ BASICS Visual complaints, such as nonspecific visual

blurring, double vision, visual field loss and
decreased acuity, are the most common symptoms.
Imaging
Initial approadl
Neuroimaging with CT or MRl. Imaging with MRl is
DESCRIPTION Less commonly there may be generally better for assessing soft tissue, including
The optic chiasm is formed by the confluence of the -Photophobia the chiasm. Imaging should typically include
intracranial optic nerves, is 12-1 8 mm in diameter, - loss of stereopsis contrast and should be targeted toward the sella.
lies 10 mm above the sella turcica of the sphenoid - Abnonmalities in motion perception (Pulfrich Follow-up lfr special considerations
bone, and contains the decussation of nasal nerve phenomenon) MRl may show a heterogeneous signal with variable
fibers from each optic nerve. Visual loss is often the - Diplopia from compression of adjacent cranial signal intensities suggestive of blood within a
initial symptom of a disorder involving the optic nerves (Ill, IV, VI) within the cavernous sinus preexisting mass lesion (most commonly a pituitary
chiasm (1). Nearly 25% of all brain tumors occur in Headache and facial pain with cranial nerve V adenoma) including within the optic chiasm
the area of the optic chiasm. involvement. Headache may be abrupt and severe in (chiasma! cavernoma). When bleeding occurs
EPIDEMIOLOGY patients with rapid expansion of a sellar lesion (see acutely it may cause rapid expansion of a mass
Incidence below). within or around the sella causing chiasma!
Unknown for all chiasma! disorders Diplopia from hem ifield slide- variable vertical or compression and/or involvement of surrounding
It is difficult to measure all pituitary adenomas horizontal diplopia that occurs due to disruption of cranial nerves Ill, IV, V, and VI in the cavernous sinus.
because many of them are asymptomatic. Pituitary latent heterophorias as images formed on Rapid expansion of other inb'asellar or parasellar
tumors have been estimated to occur in 5 per corresponding portions of each retina fall into the lesions (such as expansion of a paranasal sinus
100,000 based on neurosurgical series. affected nasal retina and are not detected mucocele) may cause similar symptoms.
Postfixation blindness (visual information from Pituitary apoplexy may cause shock and death,
Prevalence beyond the point of fixation falls into the affected especially with the ensuing hypocortisolem ia that
Prevalence of visual loss in patients with pituitary temporal visual fields and is not seen) may occur as the pituitary gland becomes necrotic.
tumors varies widely (3Q--90%) depending on the
Oscillopsia from see-saw nystagmus (rare) Symptoms of pituitary apoplexy include:
source of the report.
-Visual loss
PHYSICAL EXAM
RISK FACTORS Visual acuity and color vision are often normal early - Severe headache
Underlying risk factors for certain disorders involving -Vomiting
on in chiasma! dysfunction. As progression occurs,
the optic chiasm such as radiation therapy or genetic - Meningismus
central vision may become affected.
syndromes predisposing to tumor formation -Diplopia
(neurofibromatosis and multiple endocrine There may be a relative afferent pupillary defect with
asymmetric involvement. The pupils may be sluggish Pituitary apoplexy in the peripartum period
neoplasia) (Sheehan syndrome) occurs with hypotension and
with the progression of the deficit.
Genetics hemorrhage that frequently accompany this period.
Visual field loss is often the most important finding
Genetic predisposition for certain types of disorders Stimulatory agents, such as thyroid-stimulating
suggestive of a chiasma! syndrome and defects may
affecting the optic chiasm including multiple hormone and gonadotropin-releasing hormone,
include:
sclerosis and sarcoidosis have been thought to cause an increase in metabolic
- Bitemporal hemianopia/quadrantanopia
needs of an adenoma. leading to necrosis.
GENERAL PREVENTION - Unilateral central defect with contralateral Corticosteroid replacement therapy may be life
None hemianopia Qunctional scotoma- which appears saving in patients with pituitary apoplexy.
PATHOPHYSIOLOGY to be due to incomplete compression of the optic
chiasm rather than due to the existence of Diagnostic Procedures/Other
Typically compressive lesions around the sella Imaging of the retinal nerve fiber layer (including
turcica. The optic chiasm may also be directly Wilbrand's knee- an anterior loop of nasal fibers
at the junction ofthe optic nerves and the chiasm) with optical coherence tomography) has shown
affected by infiltration or inflammation. The crossing decreased nerve fiber layer thickness, particularly
nasal retinal fibers are predisposed to compression (3)18] or temporal visual field loss
nasally and temporally, in patients with chiasma!
resulting in temporal visual field loss. - Homonymous hemianopia (from an optic tract dysfunction (5)[C].
syndrome)
EnOLOGY Pathological Findings
Conditions involving the optic chiasm can be broadly Pattern of visual field loss from a compressive lesion Pathological findings depend on the cause of the
categorized as those that are intrinsic to the chiasm is dependent on the anatomic position of the optic chiasma! syndrome (for example granulomatosis
and those that are extrinsic (1 ,2). These include: chiasm (prefixed, normal, or postfixed) in relation to inflammation from sarcoidosis).
Congenital the sella turcica and the compressive lesion (4)[8]. Chronically, optic nerve atrophy and thinning of the
Traumatic Optic disc pallor develops, primarily involving the optic chiasm may be seen with any cause of a
Iatrogenic (herniation of optic chiasm after surgery) papillomacular bundle and nasal retinal fibers, in a chiasma! syndrome.
Intrinsic tumors (glioma) band (bow-tie) pattern that spares the inferior and Pituitary adenomas are typically benign but can
Ischemia superior portions of the optic disc. Pallor may talce show high rates of mitoses in more aggressive and
Inflammation weelcs to develop and the absence of optic disc invasive tumors.
pallor should not preclude an evaluation for a
Infection DIFFERENTIAL DIAGNOSIS
chiasmaI disorder, especially with acute visual loss.
Extrinsic mass lesions (most common) Some optic neuropathies such as hereditary optic
See-saw nystagmus (rare) may occur in congenital
- Pituitary adenoma neuropathy (particularly dominant optic atrophy)
achiasma or with the involvement of the brainstem
- Craniopharyngioma and toxic optic neuropathy can cause visual field
and interstitial nucleus of Cajal.
- Meningioma loss with cecocentral scotomas that can be difficult
DIAGNOSTIC TESTS & INTERPRETATION to distinguish from bitemporal visual field defects of
COMMONLY ASSOCIATED CONDITIONS a chiasma! syndrome.
Hormonal abnormalities associated with pituitary Lab
Initial lab tests Congenitally anomalous optic discs (especially tilted
dysfunction
Hormonal levels (including prolactin) are typically optic discs) can cause temporal visual field loss;
performed for compressive lesions that may involve often these defects cross the vertical meridian.
~ DIAGNOSIS the pituitary gland or stalk. Retinopathy preferentially affecting the nasal retina
Follow-Up 1ft Special Considerations
HISTORY Following prolactin levels over time may be an
Hormonal dysfunction with galactorrhea, important indicator as to the treatment efficacy of a
amenorrhea, decreased libido, and infertility prolactinoma.
150
CHIASMAL DISORDERS
Some patients with hormonal dysfunction may ADDITIONAL READING

. TREATMENT require alterations In diet.
Levin LA. TopicaI diagnosis of chiasma! and
PROGNOSIS retrod! iasmal disorders Walsh & Hoy(s dinical
MEDICATION It may depend on the causative lesion, duration of
FirstUne neuro-cphthalmology.ln: Miller NR, Newman NJ,
chiasmaI involvement. and severity of visual lass.
o Corticosteroids are used for acute piruitary
compromise such as in pituitary apoplexy.
o Corticosteroids are m>lca lly used fur Inflammatory
Measurement of retinal nerve fiber layer ttlickness
may be predictive of visuaI outmme.
(eds), 6th ed. Lippincott Williams & Wilkins,
2005:503-573.
Burde RM, Savino PJ, Trobe JO (eds). Chiasma!
c
dliasmal syndromes, including those caused by COMPLICATIONS dlsorders. Clinical dedslons In neuro-cphtharnology,
multiple sclerosis (6)[C]. Pituitary apoplexy can be life threatening. 2nd ed. St. Louis: Mosby, 2002:59-82.
o Dopaminergic agents, including bromoaiptine and It may lead to hormonal dysfunction requiring
cabergoline, may cause marked shrin lcage of therapy. A Sea Also {Topic, Alprilllm, Electronic
pituitary adenomas. primarily prolactin secll!ling ~ Media Element)
tumors.
ALERT Table 1 Cammon causes of chiasma! syndromes
Chiamsal dysfunction may be a marlcer of a
potentially life threatening condition such as Canganibil Traumatic latraganic Intrinsic lesial'l5 Extrinsic lasions
pituitary apoplexy Albinism Motor veh ide Radiation Glioma Pituitary adenoma
accident
CONSIDERATIONS Achlasmatlsm Skull fracture Surgical Injury Demyelination Cranlopharyng lorna
Pediatric Considerations Fat packing [341 Chiasma! inflammation/infiltration Meningioma
Compressive lesions involving the optic chiasm are (sarmidosis [35]/leukemia and
often related to gliomas Involving adjacent structures lymphoma)
like the hypcrthalamus Empty sella Ganglioglioma [361 Aneurysm
Pregnancy COtJsidetatians [)opami ne agon ists Cavernoma [37[ Mucocele
Compressive lesions involving the sella such as Histiocytosis L~ph~c~physHis
pituitary adenomas. meningiomas, and aneurysms [39)
may grow rapidly during pregnancy, causing aOJte Ischemia [38) Hydrocephalus [40)
symptDms lndudlng bilateral visual loss. Hemorrhage Arachnoid cyst
within a piruitary adenoma and pituitary apoplexy is Epithelial cyst
rommoo in the peurperium Dysgerminoma
ADDITIONAL TllEATMENT Metastasis
Issues for Referral
o Patients with sellar rumors are 1ypically sent for
endocrinologic evaluation.
o Neurosurgical referral to remove or biopsy of the
compressive lesion Same other compllcadons are persistent 'llsualloss
o Radiation oncology for consideration of radiation related to mmpressive effects of rumor or iatrogenic . CODES
therapy depending an specifics of lesion or for related to intraoperative manipulation or other
patients who cannot undergo surgery factors related to surgery, Including postoperative ICD9
SURGERY/OntER PROCEDURES empty sella with herniation of the optic chiasm. 377.51 Disorders of optic chiasm assodated with
o Neurosurgery [lnduding transsphenaidal and Persistent diplopia may be evidenced. pituitary neoplasms and disorders
aaniatomy) tD remove rompressive mass lesions Side effects related to radiation therapy induding 377.52 Disorders of optic chiasm assodated with
involving the optic chiasm radiation optic neuropathy and neuromyotania may ottler neoplasms
o MRA/CTA and less often catheter arteriography may also occur. 377.54 Disorders of optic chiasm assodated with
be necessary to exclude sellar or paraseUar inflammatary disorders
aneurysms
REFERENCES
1. Blleden L. Foroozan R. Disorders of ttle opdc CLINICAL PEARLS
Initial Stabilization
o It may be required for acute visual loss related to
chiasm. Expert Rev Ophtha/mo/2009;4:649-659. Visual fil!ld loss is allen the mDSt important clul! to
pituitary apoplexy. 2. Foroozan R. Chiasma! syndrome. Cuff Opin the dlagnosls of a ch lasmal syndrome.
o Corticosteroids may need to be instituted to avoid Ophtha/mo/2003;14:32~331. Chiasma! dysfunction may be the initial
hypomrtisolernia in pituitary apoplexy. 3. Lee JH, Tobias S, K.won JT, Sade 8, Kosmorsky G. manifestation of a life-threatening disorder such as
o Acute visual loss from cl11asmal compression of any
Wilbmnd's knee: Does it exist? Surg Neural pituitary apoplexy.
cause may require emergent neurosurgical 2006;66:11-17. Evaluation and management of chlasmal disorders
intervention. 4. Kosmorslcy GS, Dupps WJ, Drake RL. Nonuniform typically begins with neuroimaging and involves a
pressure generation in the optic chiasm may multidisciplinary approach, including endocrinologic
explain bitemporal hemianopsia. Ophthalmology evaluation.
$ ONGOING CARE 2008; 11 5:560-565.
5. Danesh-Meyer HV, carroll SC, Foroozan R. et al.
o Serial eye examinations and visual iield testing
Relationship between retinal nerve fiber and visual
fleld sensHMty as measured by optical coherence
l'atlent Monh:DI'Ing tomography in cl1 iasmal compression. Invest
Patients should report new onset v1sualloss or Ophthalmoi V"a Sd 2006;4827-4835.
worsening of visual field defects. 6. Kawasld A. Purvln VA. Idiopathic chlasmal neu~tls:
DIET CIinical fearures and prognosis. Arch Ophthalmol
o No specific dietary needs for most patients with a 2009: 127:76-81.
chiasmaI disorder
151
CHilD ABUSE
Brian Forbes
Anne Jensen
Gil Binenbaum
~ BASICS
Tractional ocular injury: The typical pattern of Funduscopic: A dilated e}e examination should be
retinal hemorrhage in SBS coincides with areas of performed by a trained ophthalmologist, preferably
maximal vitreoretinal adhesion: Vessels, macula, within 24 hours but no later than 72 hours when
DESCRIPTION and peripheral retina. Vigorous repeated abusive head injury is suspected or a child sustains
Child abuse and neglect as defined by the acceleration-deceleration produces translational and unexplained acute life threatening event (ALTE).
Child Abuse Prevention and Treatment Act (CAPTA) movement of the vitreous. which can lead to Care should be taken to view the peripheral retina.
is any act or failure to act on the part of a parent or characteristic macular tractional retinoschisis with or Hemorrhages, present in SD-80% of SBS cases, may
caretaker, which results in death or serious physical without surrounding retinal folds. (6) Trauma may be preretinal. subretinal, or within the retina itself.
or emotional harm. It includes sexual abuse or also occur to orbital tissues. Thorough documentation of the number, type,
exploitation. State-specific guidelines are based on asymmetry/unilaterality, extent. and pattern of
this definition. (1) ETIOLOGY
hemorrhage should be carefully recorded. These
SBS involves an act of shaking so violent that
Child neglect involves the omission of observers would easily recognize it as dangerous.
patterns can be used to narrow the differential
fundamental resources and support, including food, diagnosis. Retinasdlisis, with blood accumulation
The injuries from this type of trauma are distinct
clothing, supervision, shelter, medical care. and between retinal layers, with/without an associated
from injuries sustained from short falls. Seizures.
education. hypopigmented circumlinear retinal pleat or fold at
coughing, and vaccinations do not simulate these
Shaken Baby Syndrome (SBS), a subset of its edge is strongly suggestive of abuse. Blood in the
injury patterns. (2)
abusive head trauma. refers to a constellation retinoschisis cavity may leak into the vitreous over
In infants the most common catalyst for abuse is several days and require surgical intervention for
of findings (retinal hemorrhage, subdural or
crying or issues around feeding. In toddlers. toilet vib'eous hemorrhage. Therefore, patients with
subarachnoid hemorrhage, and brain injury, with or
training is a common inciting event. retinoschisis should be assessed serially.
without fractures. usually with minimal apparent
external trauma) thought to arise from repetitive COMMONLY ASSOCIATED CONDITIONS Other ocular injuries: Signs of direct ocular
acceleration-iJeceleration forces, with or without Caretaker substance/domestic abuse trauma, such as bruising, hyphema, lens dislocation,
head impact. (2). Neglect and failure to thrive and so on, should raise the suspicion of abuse in the
Poverty absence of a plausible history of accidental trauma.
EPIDEMIOLOGY
Sexual abuse Sexually Transmitted Infections (4)
lnddence - Ocular manifestations of sexually transmitted
In 2008, there were 3.3 million referrals in the US to MentaUphysicallbehavioral disability
Chronic medical conditions diseases may represent a congenitally acquired
child protection services alleging abuse or neglect of infection or a "red flag" for sexual abuse.
6 million children. Of the 63% investigated,
~ DIAGNOSIS
Incubation after perinatal b'ansmission may be
772,000 cases were confirmed. delayed, especially for chlamydia.
About 2,000 deaths annually result from child - Some genital infections may rarely be transmitted
maltreatment. (1) Approximately 85% of SBS cases involve retinal to the eye by infected secretions on contaminated
Over 80% of all offenses and over 70% of all child hemollhage, which in two-thirds are too numerous fingers.
fatalities in 2008 were caused by parents of the to count, multilayered, and extending to the ora - Syphilis uniquely travels to the eye through the
victim. (1) serrata. bloodstream and always indicates sexual
RISK FACTORS Initial presentation will vary widely based on the transmission.
Age: Almost 33% of all victims in 2008 were under type of abuse that has occurred. Suspect abuse with -Infections associated with ocular manifestations
4 years old. Younger children are at much greater unexplained delay in seeking medical care. include Chlam}dia trachamatis, Phthirus pubis,
risk, with 22% of all cases and over 40% of all Physicians are required by law to report all suspected syphilis, gonorrhea, HIV, and herpes simplex virus
fatalities occurring in children under 1year of cases of child abuse and/or neglect. Abuse need not (usually nonsexual transmission).
age. (1) be proven by the reporting physician. DIAGNOSTIC TESTS It INTERPRETATION
Gender: Risk for victimization is essentially equal HISTORY Lab
between both boys and girls except for sexual abuse A detailed history including a specific timeline should Diagnostic tests should be performed at the discretion
where girl victims predominate. (1) be recorded to assess plausibility of injuries. (2) of the primary care provider or child abuse
Race: Though almost half of all victims are A diagnosis of abuse is suggested by a clinical pediatrician.
Caucasian, African American children, Native history that is changing or incongruent with the Imaging
American children. and children of mixed ethnicity current presentation. Radiographicfindings: Skeletal survey, including
are most at risk per 1,000 children of the same race. Evaluation of developmental history is especially
(1) all bones (not a babygram), should be performed to
pertinent. evaluate for rib, situ II, and long bone fractures,
GENERAL PREVENTION PHYSICAL EXAM particularly in children less than 2 years old.
Parental education upon discharge from the hospital, General: Complete exam should be performed. Any Neuroimaging (CT or MRI) may reveal subdural
in the form of videos, pamphlets, and signed contracts external evidence of injury should be hematoma, skull fractures, axonal injury, and
regarding the risks associated with shaking as well as well-documented with forensic photographs. labeled edema. Subdural hemorrhages involving bilateral
suggestions for coping with a crying child are thought with patient name and date. (2) convexities, posterior interhemispheric fissure, or
to decrease rates of SBS. posterior fossa are particularly worrisome as signs of
abuse in the absence of a clear history of accidental
PATHOPHYSIOLOGY trauma. (3)
Rotational acceleration: leads to axonal injury
and tearing of bridging veins. This leads to the Retinal photography: Retinal imaging is not a
formation of subdural hematoma (SDH), necessary component of a thorough work.-up. A
subarachnoid hemorrhage (SAH), and cerebral diagram with detailed written descriptions is
edema. (3) acceptable. When available, fundus photos can be
useful for documentation. Photography should not
replace the clinical examination.
152
CHILD ABUSE
Patholog/GIJ Findings Admission Criteria REFERENCES

Patholog leal braIn fl ndlngs Include hemorrhage, The American Academy of Pediatrics recommends that
cerebral edema, cerebral contusions, and diffuse In commun ltles without specIallzed alsls Intervention 1. US Department of Health and Human Services
axonal injury, atrophy, or infarction. (2) centers. all children who present with ama!ITI for Administration for Children, Youth and Families,
Postmortem, a fu II autopsy must be performed with abuse be hospitalized until they are medically stable Children's Bureau). Child Maltreatment 2008.
en bloc removal and evaluation of the eyes and and safe placement opllons are Identified. (2010)
orbital tissues. Discharge Criteria 2. Ame~can Academy of Pediatrics: Commlttee on C
Patient may be discharged when medically .stable to Child Abuse and Neglect. Shaken baby syndrome:
DIFFEREN11AL DIAGNOSIS Rotational cranial injuries- technical report.
Nonabuse causes of retl nal hemorrhage are aImost safe care as Identified by child protective services.
Pediatrics 2001 ;108(1):206-21 0.
always few in number and mnfined to the posterior
3. Sato Y. Imaging of nonaccidental head injury.
pole, or are assodated with abnormal laboratory
findings, physical examina-tion findings, or historical ONGOING CARE Pediatric Radiology 2009;39(s2):s23Ck23 5.
information that readily makes the diagnosis. 4. Morad Y, Kim YM, Armstrong DC, et al. Correlation
FOLLOW-UP RECOMMENDATIONS between retinal abnormalities and intracranial
Retinal hemorrhage Retinal hemorrhages generally resolve without abnormalities in the shaken baby syndrome. Am 1
- Shaken baby syndrome intervention. Close monitoring may be required to Ophtha/mo/ 2002; 134(3):3S4-359.
- Hypertension ensure appropriate management of amblyopia.
5. Deschenes J, Seamone C, Baines M. The ocular
- Coagulopathylleukemia refractive changes, optic atrophy, and amtraI visual manifestations of sexually transmitted diseases.
- Meningitislsepsisfendoamlitis impairment. Canl OphthalmoJ 1990;25(4):177-185.
-Vasculitis Serial fundus exams may be necessary as blood
- Cerebral aneurysm accumulation within a retinoschisis cavity may leak
-Anemia out Into the vitreous over the course of several days ADDITIONAL READING
- Hypoxia/hypotension and obstruct the visual axis.
- Papilledema (peripapillary hemorrhages) Skeletal surveys should be repeated 2 weeks after American Academy of Pediatrics.. www.aap.org
- Glutaric aciduria type 1, Osteogenesis imperfecta presenta-tion to Identify caIIus around areas of Healthy Children, HealthyChildren.org
- Retinopathy of prematurity previously undetectable !Jartures. US Department HHS. Child Maltreatment 2008.
- Extracorporeal membrane oxygenation
- Hypo- or hypernatremia PATIENT EDUCATION
-Birth Patient ed ucatlon should Indude strategies for
- VItamin Kdeficiency coping with a crying child, as well as information . CODES
-Carbon monoxide poisoning regarding the danger of violent shaking even in the
-Drowning absence of impact. ICD9
Discuss family stressors, especially with fami Iies 995.55 Shaken baby syndrome
caring for a disabled child. 995.59 Other child abuse and neglect
. TREATMENT PROGNOSIS
362.81 Retinal hemorrhage
ADDITIONAL TREATMENT OveraII reported mortality rates in SBS range

between 15-38%. (2)
General Measures
Younger age at injury is assodated with poorer
CLINICAL PEARLS
Hospitalization may be Indicated for protection
and diagnosis. prognosis.. with the highest mortality rates in Suspected child abuse warrants Immediate reporting
children under 2 year.; old. This effect may in part be to local child protection senlices for further
RepfHtlng suspected cases to child protective due to some disruption of normal development.
services In a timely manner Is crucial. investigation.
Severity of Injury Is also a strong predictor of poor Hospitalization is warranted to ensure proper
Multidisdplinary hatment plan is needed
outcomes. as lower Glasgow Coma Scale sCilll!s and dlagnosb. medical stabilization, and that safe
to address medical, sodaI, and psyd1ological needs
longer periods of unmnsdousness are associated placement has been identified.
of the patient and family, including family with subsequent cognitive, motor, and behavioral
counseling and mental health therapy. Retinal hemorrhage identified by an elCjlerienced
d!!fidts. ophthalmologist on fund us examInation should be
Removal of the child from the current home or Long term defidts may include cortical visuaI
social situation is a matter determined by child doOJ mented with spedfic mention of numbet type,
impairment. spastidty, seizure disorders, side syrnmetry/asym metry, location, and pattern.
protective service agencies. microcephaly, chronk subdural fiuld collections,
Stlllll'l laws require medical 5taff tD repart In young children, serial ophthalmologic
cerebral atrophy, and enCI!phalornalacia. (2) exam inalion is warranted to evaIuate the visual axis,
suspected casas to a mild pratective
service. (1) There is a direct rela-tionship between the severities as this population is especially vulnerable to
of brain and eye ln)u~. (SJ amblyopia.
SURGERY/OTHER PROCEDURES More common mechanisms of permanent vision loss 1he most common causes of permanent vision loss
Retinal hemorrhages generally resolve without in abusive head injury include occipital cortical in the abused child are mrtical visual impairment
lnte!Ventlon. vrtrectomy should be considered In damage, optic atrophy, and less commonly, rednal and optic a-trophy.
young patients when the risk of amblyopia arises detadhment
secondary to prolonged visual axis obstruction. (6)
COMPLICATIONS
IN-PATIENT CONSIDERATIONS Death
Initial Stablllzatlan Developmental delay
Should address acute respiratory or neurological Cerebral palsy
decompensation, though notably some victims will Seizures
present with little or no external signs of trauma and Central vlsuallmpal rment
nonspedfic symptoms
Optic atrophy
S)'S"Iemit .stabiliza-tion takes priority over eye
Amblyopia
examination.
Myopia
153
CHOROIDAL EFFUSION/DETACHMENT
Kristina Pao
Pressure within the suprachoroidal space is
dependent upon intraocular pressure, intracapillary
HISTORY
Past ocular history
- Recent surgery, ocular trauma, corneal ulcer, laser
DESCRIPTION blood pressure, and oncotic pressure. therapy, lOP-lowering medications?
Choroidal effusion is the accumulation of fluid Choroidal effusions result from increased vascular Recent Valsalva, straining, coughing?
(serous) or blood (hemorrhagic) into the permeability leading to the exudation of large serum Use of aspirin or anticoagulants?
suprachoroidal potential space due to increased proteins into the suprachoroidal space leading to
intramural pressure. choroid edema. PHYSICAL EXAM
Often occur after trauma, perioperatively, Scalp and cutaneous examination
postoperatively, or spontaneously (rare) ETIOLOGY - Look for alopecia and vitiligo to rule-out
Choroidal effusion is commonly caused by hypotony of Vogt-Koyanagi-Harada syndrome
EPIDEMIOLOGY any etiology, trauma, and rarely occur spontaneously.
lnddence DIAGNOSTIC TESTS & INTERPRETATION
COMMONLY ASSOCIATED CONDITIONS Diagnostic Procedures/Other
Frequency varies between 0.05-6% Trauma
No racial or sexual predilection B-scan may demonstrate domed-shaped lesions,
Perioperatively or postoperatively following cataract choroidal thickening, and low-medium internal
Hemorrhagic choroidal detachments are more and glaucoma surgery reflectivity.
common in the elderly
- Helps to differentiate between serous and
RISK FACTORS
Serous choroidal effusion: Nanophthalmos, uveal ~ DIAGNOSIS hemorrhagic choroidal effusion
- Helps to determine if hemorrhage is mobile or
effusion syndrome, carotid-cavernous fistula, coagulated
Signs of recent surgery or trauma: Filtering bleb,
primary or metastatic tumor, scleritis, - May note large degree of fluid accumulation
intraocular lens, photocoagulation, cyclodialysis
Vogt-Koyanagi-Harada syndrome, globe hypotony, resulting in retina-to-retinal contact centrally
cleft
trauma, inflammation, iatrogenic (i.e., isoniazid) known as kissing choroidals
- Perfonm Seidel test
Hemorrhagic choroidal effusion: Older age, - Perfonm gonioscopy Transillumination is present in serous choroidal
arteriosclerosis, uncontrolled glaucoma, previous eye detachment, but also in nonpigmented choroidal
Smooth, bullous, orange elevation of retina and
surgery, myopia, history of choroidal hemorrhage in tumors.
choroid on funduscopic examination
fellow eye, sickle cell disease, systemic hypertension - Hemorrhagic choroidal effusions do not
- Bullous elevation often extends 360 degrees
Intraoperative or postoperative: Wound leak. transilluminate
around the periphery in a lobular configuration
perforation of sclera from superior rectu~. br!dle
Serous choroidal effusion is often asymptomatic or
suture, cyclodialysis cleft, leakage from f1ltenng
noted with painless decrease in vision
bleb, laser photocoagulation or cryotherapy
Often associated with low intraocular pressure (lOP
GENERAL PREVENTION <6 mm Hg), shallow anterior chamber with mild
See "Risk. Factors". cell and flare
Hemollhagic choroidal effusion is often sudden,
severely painful loss of vision associated with a red
eye
Often associated with elevated intraocular pressure,
shallow anterior chamber with mild cell and flare
154
CHOROIDAL EFFUSION/DETACHMENT
CT scan shows a semiIunar or ring-shaped lesion of COMPLICA110N5

variable attenuadon. . TREATMENT loss of useful vision
MRdemonstrates crescentic or ring-shaped area of Phthisis
hyperintensity oo both T!-weighted and ADDmONAL TllEATMENT Retinal detad1ment
T2-weighted images. Genetal Measures Cataract furmanion
-Helps to differentiate betwl!en d!Dt'Didal effusion Topical corticosteroids Cyditic pupillary membranes
I
and choroidal melanoma. which is hyperintense Topical cydopleglcs o Corneal endothelial damage
oo T1-welghtetllmages and hypolntense on Intraocular pressure-lowering medication (topical
T2-weighted images Peripheral ante~or synech lae
and systemic) Intractable secondary glaucoma
- May be difficult to differentiate bflween subatute
Oral steroids if inflammation implicated
choroidal hematomas from chDt'DidaI effusion
Parasympathom imetics are rontrai ndicated
Patltological Findings ADDITIONAL READING
Accumulation of serous or serosanguineous material SURGERY/OTHER PROCEDURES
In the suprachoroidal potendal space. Posterior sclerotomy if chDI'Didal detachment persist5 o Mafee MF, Under B, Peyman GA. et al. Choroidal
greaner than 1 week hemanoma and effusion: Evaluation with MR
D1FFEREN11AL DIAGNOSIS Anterior chamber paracentesis to drain imaging. Radialogy 1988;168:7811.
Malignant glaucoma suprad1oroidal IIuid
ChoroidaI melanoma Injection of viscoelastics if anterior chamber is
Apilakit pupillary block flattened . CODES
PseudophaIde pupillary block
Exudative retinal detachment ICD9
Postoperative retinal detadlment
$ ONGOING CARE o 363.70 Choroidal detachment. unspedfied
Tractional retinal detachment FOLLOW-UP RECOMMENDATIONS 363.71 Serouschoroidal detachment
Rhegmatogenous retinal detad1ment Ophthalmologist 363.72 Hemorrhaglc choroidal detachment
Melanoma of me ciliary body PROGNOSIS
VOgt-Koyanagi-Harada syndrome No mortality
UveaI effusion syndrome Prognosis dependent on cause of chDt'Didal effusion
Wegener's granulomatosis Loss of usefuI vision in 40%
Anterior and posterior scleritis Worse prognosis with hemorrhagic detachment
Carodd-avernous or dural-sinus llstuIa
155
CHOROIDAL FOLDS
Kamalesh J. Ramaiya
Gaurav K. Shah
ETIOLOGY
Most often, choroidal folds are idiopathic. However,
a secondary etiology may be present.
DESCRIPTION Ocular conditions HISTORY
Parallel striae that may be oriented in a horizontal, - Choroidal nevi and tumors May be asymptomatic, however, patients may
vertical, or oblique fashion at the posterior pole. - Choroidal neovascularization complain of a variety of visual disturbances including
(1)[C] - Choroidal inflammation blurring of vision or metamorphopsia
Not a condition, but rather a clinical finding that - Choroidal detachment or effusions. PHYSICAL EXAM
may be idiopathic or secondary to another - Central serous chorioretinopathy Choroidal folds are a clinical finding seen on dilated
underlying ocular or orbital etiology -Hypotony funduscopy of the posterior pole. They appear as
- Posterior scleritis parallel lines of lighter (yellow) colored peaks
EPIDEMIOLOGY
- Vogt-Koyanagi-Harada syndrome alternating with darker (orange) colored troughs.
Unknown
-Hyperopia A thorough external, anterior, and posterior
RISK FACTORS - Scleral buclde segment examination, along with measurement of
See Etiology. Optic neuropathies intraocular pressure, should be performed on all
PATHOPHYSIOLOGY -Papilledema patients with choroidal folds, as this may provide
Wrin~ing of the retinal pigment epithelium, Bruch's - Optic nerve tumors clues to an underlying etiology.
membrane, and the inner choroid layers Orbital conditions
The lighter colored peaks of the folds are thought to - Orbital tumors
be created by stretching and thinning of the - Orbital inflammation
overlying retinal pigment epithelium (RPE), and the -Thyroid orbitopathy
darker troughs represent compression of the RPE. Increased intracranial pressure (ICP)
However, histopathologic studies have challenged - Has been shown to cause choroidal folds,
this notion. independent of the presence of papilledema
Thought to occur because of an imbalance between
the contractile and stretching forces affecting the
eye wall (2)18]
- Intraocular forces: For example, hypotony
- External forces: For example, orbital mass lesions,
papilledema (increased cerebrospinal fluid
pressure transmitted to the eye wall)
- Direct b'actional effect: For example, choroidal
neovascular membranes
156
CHOROIDAL FOLDS
DIAGNOSnC TESTS & INTERPRETAnON 3. Giuseppe G, Distefano MG. Optical coherence

Imaging . TREATMENT tomography of chortoretlnal and choroidal folds.
Fl uoresceln anglog raphy (FA} can be useful In Aera Ophfhalmol Scand 2007;85:333-336.
demonstrating choroidal folds. MEDICATION 4. Fine HF, Cunningham ET, Kim E. et al.
-A characb!ristic dark-light alternating pi!lll!rn of Treatment of dloroidal folds is targell!d toward thl! Autofluorescence imaging findings in long-standing
hypo- and h~er- fluorescence is seen, which underlying etiology. chorioretinal iolds. Retfn Cases Brief Rep.
represerrts compression and stretdling of the RPE,
respectively.
Asymptomadc. Idiopathic choroidal folds may be
obse!Ved.
2009;3(2):137-139.
5. Shields JA. Shields CL, Rashid RC. Clinicopathologic
c
-This test can help differentiate choroidal folds correlation af choroidal folds: Seconda!Y to massive
from retinal folds. as the lalll!r will not show cran ioorbital hemangiopericytDma. Ophthal Plast
alterations in background fluorescence. ONGOING CARE Recoostr Surg 1992;9:62-68.
- FA may also help to elucidate an underlying FOLLOW-UP RECOMMENDATIONS
etiology. Serial fundus examinations
Optical coherence tomography has also been f t coDES
demonstrated tD be a useful imaging modality for
this condition, especially for differentiating choroidal REFERENCES
ICD!t
folds from retinal folds and chorioretinal folds. (3)(C] 743.54 Congenital folds and cysts of posterior
1. Machemer R. Choroidal folds. Am J Ophfhalmol
Fundus autDfluorescence may also demonstrate 1979;87:252. segment
characteristics. (4)[C] 2. DelPriore LV. Stiffness af retinal and choroidal
Diagnostic ProceduiHIOther tissue: A surface wrinkling analysis of epiretinal
Orbital imaging may be indicated in patients with membrane and choroidal Folds. Am J Ophthalmoi
CLINICAL PEARLS
choroidal folds to detennine an underlying etiology. 2006;142:43s-440. Although choroidal iolds may be idiopathic, a search
This may indude: for an underlying etiology should be performed.
- 8-Scan ultrasonography of the eye and orbit
- CT of 1he orbits and braIn
- MRI of the orbits and brain (SJ]CJ
157
CHOROIDAL HEMANGIOMA
Arman Mashayekhi
Carol L. Shields
~ BASICS
Follow-up a special considerations
~ DIAGNOSIS Ultrasonography and OCT are the most useful tests
for monitoring of tumor and retinal status after
DESCRIPTION HISTORY treatment.
Benign vascular hamartomatous tumors of the Both CCH and DCH presents with painless visual -Absorption of subretinal or intraretinal fluid is the
choroid. Present in 2 forms based on extent of loss or metamorphopsia (1)[81. earliest evidence of response to treatment.
choroidal involvement:
- CCH usually causes symptoms in the third to sixth Pathological Findings
Circumscribed choroidal hemangioma (CCH): Both CCH and DCH are composed of small to large,
decades of life.
Solitary tumor with no systemic associations . thin-walled vessels lined by flat endothelium and
- DC H generally becomes symptomatic earlier in life
Diffuse choroidal hemangioma (DCH): Usually m (First or second decades). separated by thin intervascular connective tissue
association with Sturge-Weber syndrome (SW septa.
syndrome) (encephalofacial angiomatosis) PHYSICAL EXAM - Overlying RPE alterations include fibrous and
CCH presents as a circumscribed, round, orange-red osseous metaplasia.
EPIDEMIOLOGY elevated choroidal mass. Other typical features - Overlying retina usually shows varia~le degrees of
Incidence include: edema and photoreceptor degeneration.
CC His a rare tumor. - Unilateral
-Only 200 patients with CCH were diagnosed on - Posterior to equator DIFFERENTIAL DIAGNOSIS
the Oncology Service at Wills Eye Institute - Serous retinal detachment (RD) (common) The diagnosis of CCH can be challenging. The main
between 1974 and 2000 compared with more - Overlying retinal pigment epithelial (RPE) changes differential diagnosis includes:
than 10,000 patients with choroidal melanoma in (atrophy, hyperplasia, fibrous metaplasia, - Amelanotic choroidal melanoma
the same time period. lipofuscin clumps) - Choroidal metastasis
DCH is a very rare tumor. - Overlying retinal edema (cystoid macular edema in - Retinal detachment
- Half of patients with SW syndrome have DCH. sub- or peri-foveal tumors) - Central serous chorioretinopathy
- Lipid exudation is rare - Posterior scleritis
RISK FACTORS -Age-related macular degeneration
DC Hpresents as diffuse orange thickening of the
rJ
Genetics
choroid referred to as the "tomato catsup
There is no k.nown genetic predisposing factor for
fundus
CCH.
- Other ocular features of SW syndrome are present TREATMENT
SW syndrome is entirely sporadic but several somatic (see Commonly associated conditions")
mutations have been described in association with MEDICATION
- Extensive serous RD and RPE alterations are There are no known medical treatments available for
this condition. common CCH or DCH.
COMMONLY ASSOCIATED CONDITIONS - Neovascular glaucoma secondary to long-standing
CC His a sporadic condition with no associated RD can develop ADDITIONAL TREATMENT
ocular or systemic conditions. General Measures
DCH is a manifestation of SW syndrome. Other CCH and DCHs that affect or threaten central vision
features of this syndrome include:
Lab should be treated before irreversible RPE or retinal
Initial lab tests damage develops.
- Cutaneous nevus flammeus in the distribution of
Angiography: Both fluorescein angiography (FA} a~d Long delay between onset of symptom~ and
the first or second branches of the trigeminal
indocyanine green angiography (ICGA) are helpfulm treatment is associated with a worse v1sual
nerve (Port-wine stain)
establishing the diagnosis of CCH.
- Leptomeningeal hemangioma ipsilateral to the prognosis. . .
- Fluorescein angiography: Lacy hyperfluorescence
cutaneous nevus flammeus In advanced cases with long-standing extens1ve
in prearterial or early arterial phase followed by
- Seizure (80%) serous retinal detachment. treatment may prevent
late staining and leakage.
- Hemiparesis/hemiplegia development of neovascular glaucoma.
- lndocyanine green angiography: Early intense
- Mental retardation Observation is the recommended management for
hyperfluorescence followed by dye washout in
- Ocular features: asymptomatic CCH or DCH. . .
late frames (tumor hypofluoresoence with
o Eyelid nevus flammeus (95-1 00%) -In a large series from Oncology Serv1ce at Wills
surrounding rim of hyperfluorescence).
o Prominent episcleral vessels (70%) Eye Institute, 43% of patients were initially
o Glaucoma (70%)
Ultrasonography .
- CCH: Solid dome-shaped tumor on B-scan w1th observed without treatment.
o Diffuse choroidal hemangioma (DCH) (50%) The endpoint of treatment should be resolution of
acoustic features similar to adjacent normal
choroid. A-scan shows high internal reflectivity. intra- or subretinal fluid and not complete tumor
- DC H: Acoustic features are similar to CCH but regression.
choroidal thickening is more diffuse.
Optical coherence tomography (OCT) is a useful tool
for detection of associated retinal changes such as
retinal edema. retinal atrophy, or minimal serous RD.
158
CHOROIDAL HEMANGIOMA
Additional Tllfllilplfls 3. Boilcadera A, Garcia-Arum! J, Martfnez-<:astillo V,

ONGOING CARE et al. Prospective clinical trial evaluating the
Photodynamic therapy (PDl) with verteporfln Is the efficacy of photodynamIt therapy for symptomatic
treatment of choice fDt' CCH and has been used FOLLOW-UP RECOMMENDATIONS circumscribed choroidal hemangioma.
successfully for treatment of DCH (2)[B], (3)[8]. Patient Monitoring OphtJuJimo/ogy 2009;116: 10o-105.
- Depending on the size of the tllmDt', one or more All patients with untreali!d or treated CCHor DCH 4. Chao AN, Shields CL, Shields JA. et al. Plaque
I
spots are necessary to adequall!ly cover the tumor. need to be monitored regularly for development of radiotherapy for choroidal hemangioma with total
- Successful treatment with PDT Ieads to absorption new or recurrent subretlnal fluid. retinal detachment and l~s neovascula~zatlon.
of subrednal or lntraretlnal fluid and variable Retina 2001 ;21 :682-4.
degrees of tumor regression within the first PATIENT EDUCATION
3 months after treatment. Patients should report any new symptoms such as
- Can be repeated if there is recurrence of serous blurred vision, light flashes, or visual field defuct. ADDITIONAL READING
RD or macular edl!llla -Amsler grid can be useful for self-monitoring of
- The most common complication of PDT Is the central vision. Mashayekhi A, Shields CL. Cirt11msaibed choroidal
choroidal atrophy In the area of treatment. PROGNOSIS hemangioma. CutT Ofin Ophthalmo/ 2003;1 4:
o The risk of choroidal atrophy can be reduced by Long delay between onset of symptoms (caused by 142--9.
using a single spot, norHJVerlapping spots. subfoveal fluid or cystoid macular edema) and Shields JA, Shields Cl, Materin MA, et al. Changing
lower laser power and by avoiding treatment of treatment, is assodali!d with a worse final visual concepts In management of drcumsalbed choroklaI
surrounding normal choroid. outcome. hemangioma: The 2003 J. Howard Stokes Lecture,
L.ow-ilose (20 Gy In 10 fractions) or standard dose Subfoveal CC Hs lead to overlying RPE and Part 1. Ophthalmic Surg Lasers /mafing 2004;
(40 Gy in 20 fractions) externaI beam radiotherapy photoreceptOt' damage at the fovea and are 35:383-94.
(EB RT) is the most commonly used method for assodali!d with poor long-term visual prognosis.
management of DCH and can be used for treatment
of CCH when other treatment meltlads are not COMPUCATIONS
a S11 Also (Tapic, Al1arithm, Eleclranic
~ Media El1111nt)
available or are not possible due to hazy media or Neovascular glaucoma is the end result of
bullous retinal detachment. long-standing extensive serous RD In eyes with CCHor www.fighll!yecancer.mm
DCHand may require enudeation in some cases. www.eyecancerinfo.com
Plaque radiotherapy (20-40 Gy) has been used
successfully for rna nagement of CCH. Pregnancy Canslderatlons
- Due to success and excellent safety profile of PDT, There are several reports of women with CCH
currently plaque radiothaapy is reserved for presenting with serous RD and decreased vision CODES
tumors that have failed or are not good candidates during the second or third 1~mesters of pregnancy.
for PDT (hazy media, buIlOlls RD) (4)[8I. Spontaneous resol utlon of serous RD has been noted ICD9
in some of these patients following delivery. 228.09 Hemangioma of other sites
Laser photocoagulation and transpupillary
thermoti1er.1py are mare destructive than PDT and 759.6 Other congenital hamartoses, not elsewhere
their use is limited to treatment of extrafaveal CCHs classified
REFERENCES
v.tlen PDT Is not available or possible.
-Laser photocoagulation although initially 1. Shields CL. Honavar SG, Shields JA, et al.
successful in resolution of subretinal fluid, is Cirt11msaibed choroidal hemangioma: Clinical CLINICAL PEARLS
associated with high rali!s of recurrent subretinal manifestations and factors predictive of visual CCH should be considered in the differential
fluid. outcome in 200 consecutive cases. Ophthalmology diagnosis of patients diagnosed with chronic central
2001;108:223 7-48. serous chorioreti nopathy.
2. Schmidt-Erfurth UM, Michels S, et al. Asymptomatic choroidaI hemangiomas can be
Photodynamic therapy for symptomatic choroidal observed without treatment.
hemangioma: Visual and anatomic results. Photodynamic therapy Is the treatment of choice for
Ophthalmology 2002;109:2284-94. circumscribed choroidal hemangioma.
159
CHOROIDAL MElANOMA
Carol L. Shields
Jerry A. Shields
~ BASICS
Genetics Diagnostic Procedures/Other
No systemic hereditary tendency Fine needle aspiration biopsy to confirm the
Genetic studies of uveal melanoma disclose that melanoma cytologically as well as to evaluate the
DESCRIPTION chromosome 3 monosomy and duplication of Sq are malignancy for cytogenetic abnormalities.
Most common primary intraocular malignancy the most important factors related to poor Pathological Findings
Melanoma occurs in the uvea with iris involvement prognosis. Variably pigmented nodular or flat mass of the
in 4%, ciliary body involvement in 6%, and choroid
choroidal involvement in 90%. GENERAL PREVENTION
Avoidance of chronic sunlight exposure 3 histopathologic types indude:
Choroidal melanoma appears as a pigmented - Spindle cell type -slender cells with thin
(55%), nonpigmented (1 5%), or mixed pigmented Avoidance of arc welding
elongated nucleus and nucleolus
(30%) mass PATHOPHYSIOLOGY - Epithelioid cell type -large cells with prominent
Median choroidal melanoma basal dimension is Choroidal melanoma arises from preexisting nevus. nucleus
11 mm (range 2-33 mm). ocular melanocytosis. or de novo. - Mixed spindle and epithelioid cell type
Median choroidal melanoma thickness is 5 mm ETIOLOGY
(range 1-23 mm). DIFFERENTIAL DIAGNOSIS
No proven cause. Choroidal nevus
Assumes a configuration of dome-shape (75%),
mushroom shape (1 9%), or flat [diffuse] (6%). COMMONLY ASSOCIATED CONDITIONS Peripheral exudative hemorrhagic chorioretinopathy
Often associated with subretinal fluid, orange Oculodermal melanocytosis is found in 3% of eyes Congenital hypertrophy of the RPE
pigment. and occasionally subretinal or vitreous with melanoma. RPE hemorrhagic detachment
hemorrhage. Choroidal hemangioma
ALERT ~ DIAGNOSIS Choroidal metastasis

Scleritis
Any pigmented lesion in the ocular fundus should be HISTORY Uveal effusion
critically evaluated for possible choroidal melanoma. Decrease in visual acuity Retinal detachment
Geriatric Considerations
Choroidal melanoma occurs at a median age of
55 years.
Flashes
Floaters
No symptoms in some cases.
PHYSICAL EXAM
rJ TREATMENT
MEDICATION
Pediatric Considerations Tumor color is brown {55%), yellow (1 5%), or mixed There are no medications for this tumor.
Uveal melanoma most often occurs in adults but 1% brown-yellow (30%). For metastatic disease, some consider
of patients are children < 20 years. Tumor quadrant can be macula (5%), inferior chemotherapy, immunotherapy, vaccination. protein
Pregnancy Considerations (20%), temporal (29%), superior (22%), nasal kinase inhibition. and other therapies.
Uveal melanoma in pregnant patients show same risks (21%). and diffuse (3%).
for metastasis as those that are not pregnant. Median proximity to disc is 3 mm.
General Measures
EPIDEMIOLOGY Median proximity to foveola is 3 mm. Treatment is based on tumor location, size,
lnddence DIAGNOSTIC TESTS & INTERPRETATION associated features. patient age, and general health
Choroidal melanoma incidence in the US is 4-6 per Lab and status of the opposite eye and includes
million Caucasian population and 8 per 10 million lnitiall;~b mu enucleation, plaque radiotherapy, proton beam
African American population. liver function tests. chest x-ray, liver MRI, and radiotherapy, surgical excision (resection), and
sometimes liver PET scan to evaluate for systemic thermotherapy
Prevalence
Most authorities believe that there are approximately metastasis. Plaque radiotherapy or proton beam radiotherapy is
2, 500 new cases per year in the US. Follow-up & special considerations the most common conservative therapy
The above tests are repeated once or twice yearly. Enucleation is employed for large tumors
RISK FACTORS
Caucasian blue-eyed patients with tendency for Imaging Issues for Referral
sunburn Initial approach All patients with choroidal melanoma should be
Systemic imaging as listed above. referred to an experienced center of excellence for
Oculodermal melanocytosis (Nevus of Ota)
Ocular imaging with fundus photography, treatment.
Choroidal nevus especially those with:
-Thickness ::;2 mm ultrasonography, fluorescein angiography, Additional Therapies
- Subretinal fluid indocyanine green angiography, autofluorescence, Thermotherapy or photodynamic therapy is offered for
-Symptoms optical coherence tomography, and occasionally consolidation of the scar.
- Orange pigment visual fields.
- Margin of tumor ~3 mm to disc Follow-up & special considerations
-Ultrasound hollow The imaging is repeated as needed on each
- Drusen absent ophthalmic visit.
- Halo absent
160
CHOROIDAL MELANOMA
SURGERY/OTHER PROCEDURES Visual prognosis foil DWing enucleation is complel:l! Shields JA. Shields Cl. Intraocular Tumors: A Text
Enucleation for large melanoma over 8 mm and following plaque radiotherapy depends on and Atlas. Philadelphia: Saunders, 1992.
thldcness or those with extrascleral extl!nslon, tumorthidcness and location. Approximately 70% Shields JA. Shields Cl. Atlas uf Intraocular Tumors.
glaucoma, or encircling the optic disc af patients have 201200 visual awity after plaque Philadelphia: Lippincott Williams and Wilkins, 2008.
Plaque radiotherapy or proton beam radiotherapy radiotherapy by 5 yea 15. Sagoo MS, Shields CL. Mashayekhi A. et al. Plaque
for medium melanoma af 3~ mm thickness or
small melanoma af ~3 mm thickness. Both
COMPUCATlONS radiotherapy for choroidal melanoma encircling the C
If enucleation, sunken socket, poor prosthesis optic disc (circumpapi llary choroidal melanoma.
treatments are delivered over approximately 5 days motility, socket Infection, socket conjunctivitis Arch Ophtha/mol 2007;125:1202-9.
and provide eKcellent local tumor control of 98%, Shields CL. Biandotto C, Pirondini C, et al.
but can lead to vision loss from radiation
If plaque radiotherapy, complications are loss of
vision from radiation retinopathy, papillopathy, Aut<rfl uorescence af choroidal melanoma in 51
mawlopathy and/or papillopathy. cases. Br1 Ophtha/mo/2008;92:617-22.
cataract, or glaucoma, neovascular glaucoma, and
Local resection ID microsurgical~ remove the tumor loss of
from the eye and leave the eye intact
Laser therapy using transpupllla ry thermotherapy to
treat small melanoma or consolidate larger tumors ADDITIONAL READING
f t coDES
following radiotherapy ICD!t
Shields CL lhe hunt for the .seaets of uveal
IN-PATIENT CONSIDERATIONS melanoma. Perspective. Edltorlal. J Clln Exp 190.6 Malignant neoplasm of choroid
Initial Stabilization Ophrhalmo/2008;36:277-60.
Treatment of choroklaI melanoma Is outpatient. Shields CL To find small ocular melanoma. A CLINICAL PEARLS
mnemonic to identify choroidal melanoma in its
early stages. In: Rapuano C, (ed), Yea!book of Remember to find small ocular melanoma - using
ONGOING CARE ophthalmology StLouis: Mosby, 2005;267-272. helpful hints daily" ID recall TFSOM- UHHD that
FOU.OW-UP RECOMMENDA110NS weis E, Shah CP, Lajous M, et al. The association of represents thickness > 2 mm, fluid, symptoms.
Patients should be examined every 4 months for the host susceptibility factors and uveal melanoma. A orange pigment, margln near disc, ultrasound
first 3 years and thereafter every 6 months for Iife for meta-analysis. Ardl Ophtha/mri 2006;124:SHO. hollow, halo absent, drusen absent Any small lesion
locaI recurrence in the 1!Yf! and sysll!mic metastasis. Shah CP, Weis E, Lajous M, et al. Blue light with these features should be evaluated for
exposure and uveal melanoma. Correspondence. melanoma by an experienced consultant
PA11ENT EDUCATION
www.fighteyecancer.com Ophthalmology 2006; 113:1062.
Shields Cl., Furuta M, Berman EL. et al. Choroidal
www.eyecancer.info
neus transformation into melanoma. Analysis af
www.eyetumor.org 2514 consecutive tases. Ardl Ophtha/mol 2009;
www.eyecancerbook.com 127(8):981-7.
W\WI.etrtorg Sh lelds Cl., Furuta M, lhangappan A. et al.
W\WI.d'IOroldmelanoma.com Metastasis af uveal melanoma mllllmeterby
PROGNOSIS miIIimeter in 8033 consecutive eyes. Arch
Metastasis by general size 0 10 years is: Oph thalmo/2009; 127(8):989-98.
- Small (D-3 mm thickness) - 12% metastasis
- Medium(]--8 mm thickness)- 25% metastasis
- Large (~8 mm thickness) - SO% metastasis
Metastasis by specific size at 10 years is:
-D-1mmis5%
-1-2 mm is 10%
-2-3 mm Is 15%
- 3-4 mm Is 20%
- 4-S mm is 25%
-5-6 mm is 30%
- 6-7 mm is 35%
- 7-8 mm is 40%
- 8-9 mm is 45%
-9-10 mm Is SO%
-~10mm is 55%
161
CHOROIDAL NEOVASCUlARIZAnON
J. Arch McNamara
~ BASICS RISK FACTORS

Varies by underlying diagnosis
- In AM D. advancing age is an obvious risk factor.
PATHOPHYSIOLOGY
Any disturbance of Bruch's membrane, such as blunt
trauma, an infectious process. or the
DESCRIPTION Other factors include strong family history of non-neovascular abnormalities of AMD (drusen, RPE
Choroidal neovascularization (CNV) is the AM o, race (more common in whites and Hispanics atrophy) can allow buds of neovascular tissue from
development of new blood vessels from tile choroid than blacks), cigarette smoking, hypertension, the choriocapillaris to perforate the outer aspect of
layer through a dehiscence or disturbance in Bruch's hyperlipidemia, abdominal obesity, reduced Bruch's membrane.
membrane into the subretinal space. physical activity, and high dietary fat intake. - Once the stage is set for CNV. proangiogenic
Choroidal neovascularization is often accompanied Genetics factors including vascular endothelial growth
by fibroblasts. The resulting fibrovascular complex is Varies by underlying diagnosis factor (VEGF), advanced glyc.osylation
unstable and can frequently leak serous fluid, -AM D-and its most severe complication, choroidal end-products (AGEs), platelet-derived growth
hemorrhage, and result in a disciform scar. neovascularization-- is recognized as resulting factor (PDG F), and pigment epithelium-derived
Multiple disorders that affect the retinal pigment from a convergence of multiple risk factors. Family factor facilitate continued growth of CNV.
epithelium (RPE)-Bruch's membrane-choriocapillaris history is a consistent risk factor. Twin studies ETIOLOGY
complex can cause choroidal neovascularization. support a genetic basis for the disease with both Degenerative, infectious. traumatic, and
- Over 40 disease processes are associated with early and late-onset findings (CNV) being genetically-determined disruptions of Bruch's
choroidal neovascularization with age-related approximately twice as high in monozygotic as membrane
macular degeneration (AM D), angioid streaks, dizygotic twins.
pathologic myopia, ocular histoplasmosis a Genome-wide linkage analyses have identified a COMMONLY ASSOCIATED CONDITIONS
syndrome, and blunt trauma being the number of chromosomal loci lin ked to AMD. Age-related macular degeneration, angioid streaks,
commonest. pathologic myopia, ocular histoplasmosis syndrome,
GENERAL PREVENTION blunt trauma/choroidal rupture, and multifocal
EPIDEMIOLOGY Avoid modifiable risk factors choroiditis.
Incidence Nutritional supplementation has been shown to
Varies by underlying diagnosis
- Choroidal neovascularization associated with
reduce the risk of progression of AM D to its more
severe "wet" form in which tllere is development of ~ DIAGNOSIS
age-related macular degeneration is the leading CN\1. HISTORY
cause of permanent visual loss in people over 65 -The Age-related Eye Disease Study (AREDS) Sudden onset of decreased vision with
years of age in developed countries. recommended the following: 500 mg vitamin C, metamorphopsia, and paracentral scotoma
a Advanced AMD affects 25-30 million people 400 IU vitamin E, 15 mg beta<arotene, 80 mg
worldwide and 1.75 million in the US. zinc as zinc oxide, 2 mg copper as cupric oxide PHYSICAL EXAM
Prevalence (the latter to prevent copper deficiency anemia Elevation of the RPE, serous subretinal fluid,
Varies by underlying diagnosis associated with high levels of zinc intake). intraretinallipid, subretinal or less commonly
- In AM D. the prevalence of choroidal o AREDS II, currently underway, is assessing intraretinal hemorrhage, RPE detachment, RPE rip,
neovascularization is primarily influenced by supplementation witll micronutrients lutein, gray-green CNV lesion seen Ill rough retina.
advancing age. zeaxanthin, and omega-3 fatty acids (DHA and
EPA).
162
CHOROIDAL NEOVASCULJRIZATION

Imaging
Initial approad!
. TREATMENT (f) ONGOING CARE
Fluorescein angiography MEDICATION FOLLOW-UP RECOMMENDAOONS
- Various patterns may be seen induding a classic FlrstUne CNV may recut so patients should be followed untiI
CNV ana occult CNV In AMD, anti-VEGFdrugs have become the standard mmplete stabilization has occurred.
I
-Blood may block CNV of care In treating CNV. Ranlblzumab and Patient Monitoring
Follow-up l spedal considerations bevacizumab are the most frequently used. Amsler grid
Treatment can be monitored with serial fluorescein CNV outside the centraI macula (extrafoveaO, DIET
angiography and optical mherence tomography. espeda lly when assodated with disorders other that AMD patients should eat a balanced diet low in high
AMD (such as blunt trauma) may be treated with dietary fat and consider eating iish twice a week.
Dlagnostlc l'toceduTeS!Other
Optical coherence tomography (OCT) laser photocoagulation (themnallase~.
PROGNOSIS
- CNV appears as increased reflectivity deep to the Secaml Lin.
Prognosis depends on location of CNV and whether or
retina Photodynamic therapy (PDT - administration of a
not hemorrhaging from the CNV has occurred.
o Secondary flndl ngs on OCT Include RPE photosensitizing drug, verl!!porfin, followed by
detachment. subretinal fluid, and intraretinal application of laser at the appropriate COMPLICAnON5
edema. wavelength) Rarely massive subretinaI hemorrhage can lead 1D a
Pathologlatl Findings - The use of PDT has been largely supplanted by hemorrhagic retinal detachment and loss af all vision.
anti-VEGFtherapy but stiII has a place in the
New blood vessel growth from the choroid through
rna nagement of CNV.
Bruch's membrane Into the subretlnal space
- In AM D, 3 growth patterns of CNV have been ADDmONAL TREATMENT ADDITlONAL READING
identified based upon the relationship of the CNV Genel"81 Mftsutw
to the RPE Low ~Asian evaluation and presc~ptlon of aids, Do DV. Antiangiogenic approaches to age-related
o Type 1: CNV beneath the RPE especially when CNV is bilateral. macular degeneration in the future. Ophthalmology
o Type 2: CNV through RPE into subretinaI space 2009;116(10 Supp0:S24-26.
o Combined pattern of type 1 & 2
Issues for Referral
New onset of deaeased vision. Bressler NM. Antiang iogenic approaches to
DIFFERENnAL DIAGNOSIS age-related macular degeneration In the future.
Retinal arteriolar macroaneurysm, central serous 5URGERY/OT11ER PROCEDURES Ophthalmology 2009;116(1 0 Suppi):S15-23.
chorioretinopathy, BI!SI's disease, adult vitellifomn Vitrectomy for evaruation of submarular Cohen SY. Anti-VEG Fdrugs as the 2009 first-1 ine
dystrophy, polypoidal choroidal vaswlopathy, hemorrhage from a ruptured CNV membrane may therapy for choroidal neovascularization in
poste~or scleritis, multlfocal choroiditis/Inflammatory
be considered. pathologic myopia. Retina 2009; 29(8):1062-1 026.
conditions. and choroidal hemangioma. - Vitrectomy for removal of CNV membranes is not
useful in AMD patients, especially since anti-VEGF
agents have become available. . CODES
o Vltrectomy for removal of CNV membranes
where the etiology is trauma or inflammation
can stiII be mnsidered. ICD9
362.16 Retinal neovascularization nos
163
CHOROIDAL NEVUS
Carol L. Shields
Jerry A. Shields
~ BASICS
GENERAL PREVENTION - Fluorescein angiography- imaging of the retina
There is no method for prevention of choroidal nevus. and choroidal vasculature to evaluate for RPE
atrophy or hyperplasia, choroidal neovascular
membrane, and intrinsic choroidal tumor blood
Most common intraocular tumor No known cause
flow
Can occur within the eye in the uveal tissue ETIOLOGY - lndocyanine green angiography- imaging of the
including the iris, ciliary body, or choroid No known cause choroidal vasculature to evaluate for intrinsic
Appears as a pigmented (80%) or nonpigmented tumor blood supply as well as choroidal
(20%) mass neovascular membrane
Ocular and oculodermal melanocytosis classically
Generally measures about 2 mm in diameter and -Autofluorescence- photographic imaging
show diffuse pigmentation of the uvea (and choroid)
1.5 mm in thickness technique to evaluate for intrinsic RPE, choroidal,
consistent with a large flat nevus.
Can produce overlying changes in the retinal and scleral autofluorescence using special filters
Neurofibromatosis type 1 can manifest diffuse to detect emitted wavelengths of light after
pigment epithelium (RPE) such as RPE hyperplasia, multifocal nevi.
atrophy, and drusen stimulation with light
-Visual fields- o evaluate for focal or diffuse loss
ALERT ~ DIAGNOSIS of peripheral or central vision
Choroidal nevus is a benign mass in the ocular Follow-up lit special cansider;~tions
fundus, but the patient should be evaluated to rule HISTORY At each visit, some or all of the above tests are
out simulating choroidal melanoma. Decrease in visual acuity in 10% performed.
Flashes or floaters in 1%
Geriatric Considerations Visual field defect in 5%
If suspicious, a fine needle aspiration biopsy for
Choroidal nevus can occur in all ages. No symptoms in 84% cytology or cytogenetics can be performed.
Pediatric Considerations PHYSICAL EXAM Pathological Findings
Choroidal nevus can be present in children but often Color is brown (80%) or yellow (20%) Variably pigmented placoid choroidal lesion
without drusen. Location is subfoveolar (1 0%) or extrafoveolar Involves outer choroid and usually spares the
Pregnancy Considerations (90%) choriocapillaris
There are no pregnancy considerations. Sector quadrant is macula (25%), inferior (20%), Typically < 2 mm thickness
temporal (20%), superior (15%), nasal (20%) 4 histopathologic types include
EPIDEMIOLOGY Anteroposterior quadrant macula (25%), macula to - Plump polyhedral cells with round to ovoid small
lnddence equator (70%), equator to ora serrata (5%) uniform nuclei
Far more common in Caucasians than -Slender spindle cells with thin basophilic nuclei
nonCaucasians DIAGNOSTIC TESTS & INTERPRETATION
Lab - Plump fusiform and dendritic cells
Believed to be equivalent between male and female, -Balloon cells, found in 4% of nevi and have foamy
although some studies show more common in lnitiall;~b mu
No blood laboratory tests needed cytoplasm
females.
Most authorities believe that the prevalence is Follow-Up lit Special Considerations DIFFERENTIAL DIAGNOSIS
approximately 7% of Caucasian adults. No systemic follow-up as this is localized to the eye. Choroidal melanoma
In population-based studies, choroidal nevus Imaging Congenital hypertrophy of the RPE
prevalence has varied including Initial approach RPE hyperplasia
- 1.9% of persons over age 13 years Ophthalmic Imaging includes: Fundus photography, Choroidal metastasis from skin melanoma
- 3.1% of persons over age 30 years ultrasonography, optical coherence tomography, Subretinal hemorrhage
- 6.5% of persons over age 49 years fluorescein angiography, indocyanine green Choroidal hemorrhage
Prevalence angiography, autofluorescence, and occasionally Peripheral exudative hemorrhagic chorioretinopathy
It is believed that choroidal nevus is present at birth visual fields Age related macular degeneration
but is recognized later in life after it acquires -Ophthalmoscopy- dilated eye examination with
pigmentation or the patient cooperates for a dilated indirect ophthalmoscopy and tumor measurement
examination - Fundus photography- to confirm the location and
Age of onset: size of the tumor and its effects on the
- Young (:~ 20 years) in 2% surrounding fundus
- Middle adult (20-50 years) in 23% - Ultrasonography- imaging of the globe using
- Older adult (>50 years in) 75% sound waves to detect intraocular mass or retinal
detachment to resolution of 0.5 mm
RISK FACTORS - Optical coherence tomography- imaging of the
Caucasian blue-eyes retina cross section to 8 micrometer resolution
Genetics using light reflection to visualize the overlying
No hereditary tendency retina to evaluate for subretinal fluid,
photoreceptor loss, intraretinal edema, pigment
epithelial detachment, choroidal
neovascularization
164
CHOROIDAL NEVUS
Shields Cl., Cater JC, Shields JA, et al. Combination

. TREATMENT ONGOING CARE of dlnlcal factors predictive of growth of small
chorolda I melanocytlc tumors. Arch Ophthalmo/
MEDICATION FOLLOW-UP RECOMMENDATIONS 2000;118:36D-4.
There are no medications Patient Monitoring Shields Cl., Furuta M, Mashayek.hi A, et al. Visual
Monitor in 3 months to documerrt stability, then twice acuity in 3422 mnsecutive eyes with choroidal
General Measures
yearly for life. ni!VUS. Ardr O!IJthalmo/ 2007; 125:1501-7. C
PATIENT EDUCATION Shields CL. Furuta M, Masllayekhl A. et a1. Clinical
Observation on 3-6 morrth basis depending on risk
www.fighteyecancer.com spectrum of choroida I nevi based on age at
factors
www.eyecancer.infa presentation in 3422 mnsecutive eyes.
Fundus photography to confirm appearance Ophthalmology 2008;115:546-52.
Ultrasonography to measure thickness www.eyetumor.info
Collaborative Ocular Melanoma Study Group.
Optical coherence tomography to confirm the www.eyecancerbook.mm
Factors predictive of growtll and treatment of smaII
features of the overlying retina www.etrf.org chorolda I melanoma: CO MS report no. 5. Arch
Autofluorescence to evaluate for status of the RPE www.choroidmelanoma.com OphthalmoJ 1997;115:1 53 7-44.
Issues for Refeml PROGNOSIS Shields JA, Shields CL. Atlas of Intraocular Tumors.
If ~sk factors present, then referral advised. Nevi Systemic - If stable nevus with no growth then Philadelphia: Lippincott Williams and Wilkins,
with < 3 risk factors rould be observed. Nevi with systemic prognosis excellent 2008:59-67.
>3 factors should be mnsidered for treatment as VIsual prognosis depends an tumor location: Shields JA, Shields Cl. Intraocular Tumors: A Text
they might represent melanoma. Risk factors - If the news is extrafoveal, then vision likely to be and Atlas. Philadelphia: Saunders, 1992:85-100.
include: good
-To- thickness >2 mm - If the news is subfoveal, then 26% risk for loss of
- Find - subretlnal fl uld at least 3 lines of visual acuity . CODES
-Small -symptoms
- Ocular- Orange pigmerrt COMPUCATlONS
Loss of vision ICD9
- Melanoma - Margin within 3 mm of disc 224.6 Benign neoplasm of choroid
- Using Helpful - Ultrasound Hollow Transformation into melanoma
-Hints- Halo absent
- Dally - Drusen absent
ADDITIONAL READING CLINICAL PEARLS
SURGERY/OTHER PROCEDURES Choroidal news Is ben lgn and should be monitored
If subretinal fluid into the fovea, consider laser Ganley JP, Comstock GW. Benign nevi and
rna lignan! melanomas of the choroid. Am J twice yea~y.
phatomagulation or phatodynamic therapy to the
Oph thalmo/1973; 76:19-25. Choroidal news should be evaluated for clinical risk
leaks detected on fluorescein angiography.
Sumlch P, Mitchell P, Wang JJ. Choroidal nevi In a factors to ascertain whether or not it might show
Consideration for lntravltreal bevaclzu mab to reduce features of simulating malignant melanoma.
subfoveaI nuld can be made white popu latian: The Blue Moumains Eye Study.
Ardr Ophthalmo/ 1998;116:64>-SO. Risk factors include:
If documerrted growth of the mass, this muld
Thiagalingam S, Wang JJ, Mitchell P. Absence of -Thickness >2 mm
represerrt transformation into melanoma and plaque
change in choroidal nevi aaoss 5 years in an older - Subretinal fluid
radiotherapy, thermotherapy, enucleation, or a
population, Arch Ophthalmol 2004;122:89-93. -Symptoms
combination of the above should be considered -Orange pigmerrt
Shields CL., Mashayekhi A, Materin MA. et al.
IN-PATIENT CONSIDERATIONS -Margin within 3 mm of disc
Optical toherence tomography of choroidal ni!VUS in
This is not managed as inpatierrt. - Ultrasound hollow
120 patierrts. Retina 2005;25:243-52.
- Drusen abserrt
Shields CL, Shields JA, Ki rat! i H, et al. Risk. factors for -Halo abserrt
growth and metastasis of small choroidal
melanacytlc lesions. Ophthalmology 1995;102:
1351-61.
165
CHOROIDAL RUPTURE
Raza M. Shah
After blunt trauma, the eye undergoes mechanical
compression and then sudden expansion. Because
Lab
None generally necessary as it is a clinical diagnosis.
DESCRIPTION of its tensile strength, the sclera can resist this insult;
Choroidal ruptures are breaks in the choroid, the the retina is also protected because of its elasticity.
Imaging
Bruch membrane, and the retinal pigment epithelium The Bruch membrane does not have enough Initial approach
(RPE), and are the result of blunt ocular trauma. elasticity or tensile strength; therefore, it breaks. Fluorescein angiography (FA) often is helpful in
confirming the presence, location, and extent of
Pediatric Considerations Concurrently, the small capillaries in the choroidal ruptures.
Traumatic choroidal rupture in children can occur in all choriocapillaris are damaged, leading to subretinal
- FA demonstrates a hypofluorescent curvilinear
ages following blunt injury. or sub-RPE hemorrhage. The larger choroidal vessels
strea~ early followed by hyperfluorescence in the
are usually spared. Hemorrhage along with retinal
Pregnancy Considerations late phase.
edema may obscure the choroidal rupture during the
Choroidal rupture may occur at the time of delivery, lndocyanine green angiography (IGGA) is useful in
acute phases. As the blood clears. a white,
particularly when forceps are used. curvilinear, crescent-shaped strea~ concentric to the localizing ruptures obscured by hemorrhage.
optic nerve is seen. CT scan of the head to assess possibility of
EPIDEMIOLOGY intraocular foreign body, ruptured globe or other
Incidence Classified as:
- Direct, occurring at the site of impact, most head injury not previously detected
Blunt ocular trauma is the most common type of eye Bscan of globe and orbit
injury. Approximately 5-1 0% of these patients commonly anterior and parallel to the limbus; or
- Indirect. occurring away from the site of impact, Follow-up ll special considerations
develop a choroidal rupture.
usually in the posterior pole concentric to the Serial examinations may be necessary to establish a
Most eyes have a single rupture, but up to 25% of
optic disc or through the fovea diagnosis of choroidal rupture
eyes have multiple ruptures.
About 80% of ruptures occur temporal to the disc. ETIOLOGY DIFFERENTIAL DIAGNOSIS
and 66% involve the macula. Choroidal rupture occurs most commonly as a resu It of Chorioretinal scars - may be related to old infectious
trauma, usually in young males. process such as toxoplasmosis or histoplasmosis
Prevalence
Rare (approximately 1/1 0,000), except in patients with COMMONLY ASSOCIATED CONDITIONS Angioid Streaks - red or brown irregular lesions that
a history of ocular trauma. radiate from the optic nerve
Choroidal neovascularization (CNV) may occur. (1)[8] Exudative Age-Related Macular Degeneration
RISK FACTORS (ARMD)
Ocular trauma
More common in eyes with angioid streaks ~ DIAGNOSIS Valsalva retinopathy
following minor ocular trauma HISTORY

Genetia Choroidal ruptures typically present after an episode . TREATMENT
Currently, no genes have been mapped indicating a of blunt trauma to the globe
MEDICATION
predilection for eyes sustaining choroidal ruptures. Also commonly associated with patients having a
There is no treatment for choroidal ruptures, but a
history of previous angioid streaks
GENERAL PREVENTION careful examination is important to exclude other
Protective eyewear (e.g., polycarbonate lenses) Patients complain of new onset decreased vision ocular injuries associated with blunt ocular trauma,
during any contact sports and activities exposing and/or a paracentral or central scotoma such as commotio retinae, retinal dialysis, hyphema,
eyes to possible trauma PHYSICAL EXAM angle recession, and traumatic iritis.
When Bruch's membrane is abnormal. minor trauma A thorough search for other signs of trauma to the, Inflammation of the anterior segment can be treated
can result in extensive choroidal rupture. head, orbit, ocular adnexa, and eye (2)[C] with topical steroids and cycloplegics.
High-ris~ patients should be advised of the hazards Ophthalmologic findings may include: CNV is a common sequelae of choroidal ruptures.
associated with blunt ocular trauma related to - Subretinal hemorrhage, which may obscure CNV may be treated as needed, with antiVEGF
contact sports and other activities. rupture of Bruch's membrane therapy showing the most promise. (3)[C]
-White subretinal streak(s) concentric to the optic
nerve in areas of previous subretinal hemorrhage.
-The nerve fiber layer usually intact
- Chorioretinal membranes
- Macular hole. retinal tears. retinal dialysis, and
retinal detachment may occur
166
CHOROIDAL RUPlURE
ADDITIONAL TREATMENT COMPUCATlONS Pendergast S. Choroidal rupb.J res. Roy and

Issues for Refeml CNV Is the most common late com plication of Fraunfeldets Current Ocular Therapy. In: Frederlck
Vltreoretlnal spedallsts should be consulted In d1oroldal ruprures.. Roy, Frederldc T. Fraunfelder, Frederick W.
instances of suspected choroidal rupture. Retinal detachment is occasionally found in anterior Fraunfelder, (eds). China: Saunders Elsevier, 2008.
d1oroidal ruptures. Engelbrecht N, Stl!rnberg PJr. Choroid. Ckular
SURGERY/OTHER PROCEDURES Trauma: Ptindfies and Practia. In: Ferenc Kuhn,
If CNV is extrafoveal, it may be treated with laser A variety of visual field defects have been observed.
I
Dante J. Pieramici. (eds). New York: Thieme: 2002.
photocoagulation. Recurrences are tare.
Prior to anti-VEGF therapy, pars plana vltrectomy REFERENCES
with membrane extraction was considered for
subfoveaI or juxtrfoveal CNV. 1. Ament CS, Zacks ON, I.Jme AM, et al. Predictors of . CODES
visual outmme and choroidal neovascular
membrane formation after traumatic choroidal ICD!t
ONGOING CARE rupture. Ard! Ophrha/mo/ 2006;124(7):9574i6. (B) 363.61 Choroidal hemorrhage, unspecilied
2. Dubinski W, Sharma S. Choroidal rupb.Jre. Can film 363.63 Choroidal rupture
FOLLOW-UP RECOM MENDA110NS
Patients wi II need close monitoring untiI the disease is Phys 2006;52:1 071-1079. (C)
brought under control. Patients may need follow-up 3. Liang F, Puche N, Soubrane G, et al.lntravitreal
ran ibizumab for choroidaI neovasa~larization CLINICAL PEARLS
with other specialists.
related to tr.~umadc Brud1's membrane rupb.Jre. Early identifiCation of a tra nsfoveal choroidaI rupture
l'atlent Monitoring Graefes Ard! Gin Exp Ophrha/mol 2009;
Patients should be followed dosely. helps assist in providing the patient with a more
247(9): 128s-3. (C) realistic prediction regarding visual outx:omes.
PA11ENT EDUCATlON CNV associated with d1oroidal rupture, may involute
Teach patients to monitor each~ using an Amsler spontaneously, leaving a relatively small scotoma.
grid and a near card. ADDITIONAL READING
PROGNOSIS Lambert S, Hutchinson, A Pediatric ocular trauma.
A prognostic indicator of the patient's evenb.JaI Pediatlic Ophthalmology: Curmrt Thought and a
vision is the location of the rupture in relation to the Practical Guide. In: Edward Wilson, Richard A
fovea. In patients with: Saunders, Rupal H. Trivedi, (eds). Germany:
- Subfoveal rupture. the v1slon tends to remain poor Springer-Verlag Berlin Heidelberg, 2009.
- Extrafoveal rupture, the vision may remain
excellent until and unless CNV develops
- Conb.Jsion maculopathy, the visual potential is
limited
Most do not reach a final visual acuity of 20/40 or
better
If rupture does not involve the fovea, good vision is
expected.
167
CHOROIDEREMIA
Jared D. Peterson
~ BASICS ETIOLOGY
Multiple types of mutations including full deletions,
partial deletions. nonsense mutations, and splice site
Imaging
Initial approadl
To establish extent of disease and to obtain a
DESCRIPTION mutations have been reported (over 100 different baseline for monitoring, obtain tile following:
Choroideremia (CH M) is a progressive. X-linked mutations have been described overall (2)). All - Dilated ophthalmologic examination
condition that results in slow degeneration of tile mutations are thought to lead to complete loss of - Goldmann visual field testing
retinal pigment epithelium (RPE), choroid, and REP-1. - Electroretinography (ERG)
photoreceptors. o In the early stages, patients may have a
Although many patients with choroideremia may not
~ DIAGNOSIS nonspecific rod-cone degenerative pattern
which eventually becomes non-recordable.
present with symptoms until tlleir early teens, others HISTORY Carriers typically have normal ERG studies.
develop nyctalopia in the first decade. Affected males usually present with trouble with Follow-up & special considerations
night vision (nyctalopia). Some males may not Annual exams, along with ERG and visual field testing,
EPIDEMIOLOGY develop any symptoms until their teen years. may be helpful to follow disease progression.
Prevalence whereas others develop nyctalopia during the first Diagnostic Procedures/Other
Estimated to be around 1:50,000 decade. Fluorescein angiography may show large areas of
RISK FACTORS Nyctalopia is followed by gradual loss of peripheral capillary non-perfusion/loss.
Male gender with family history of choroideremia vision.
-Although extremely rare, female carriers can PHYSICAL EXAM Earlier reports suggested choroidal atrophy was tile
manifest signs and symptoms of CHM, but it is The visual field loss starts as annular scotomas primary event that led to secondary loss of RPE and
usually mild. which progresses to concentric field loss. photoreceptors (4)
Genetics - By 40 years of age, affected males will typically More recent reports suggest independent
X-linked recessive have a severely impaired peripheral visual field at degeneration of the retina, RPE, and choriocapillaris
or near the level of legal blindness. (5}
PATHOPHYSIOLOGY
Central visual acuity is usually good until age Focal choroidal T-lymphocyte infiltration and retinal
The CHM gene, located on the X chromosome
60 years or greater (3}. gliosis occur, suggesting inflammation may play a
(Xq2 1.2), codes for a component of rab
geranylgeranyltransferase (GGTase), otherwise Funduscopic findings include pigmentary stippling role (5}
known as Rab escort protein (REP), an important and areas of RPE and choroidal atrophy in the
equatorial fundus that eventually progress to involve DIFFERENTIAL DIAGNOSIS
component of RPE cell function. CHM may be difficult to distinguished from:
the peripheral retina and posterior pole.
Strunni kava et al. studied monocytes and primary - Retinitis Pigmentosa
skin fibroblasts from CH M individuals. Monocytes In advanced stages, the RPE and choroid loss is so
- Diffuse Choriocapillaris Atrophy
showed impaired phagocytosis and intracellular severe that the only apparent retinal vasculature
- Gyrate Atrophy of the retina and choroid
vesicle transport, decreased lysosomal acidification, being apparent is in the far periphery, tile macula,
- Usher Syndrome Type I
and hampered rates of proteolytic degradation and around the optic disc. The underlying sclera is
-Kearns-Sayre Syndrome
visible through the areas of atrophy.
compared to controls. Fibroblasts showed decreased
secretion of several cytokines/growth factors (1 ).
The RPE serves multiple functions including
phagocytosis/degradation of shed outer
DIAGNOSTIC TESTS It INTERPRETATION
Lab
CH M is a clinical diagnosis. However, genetic testing
rJ TREATMENT
photoreceptor segments, as well as is valuable.
processing/transport of Vitamin A and other - Duplication/deletion analysis, sequence analysis, General Measures
nutrients. Altered lysosomal function and cell and targeted mutation analysis are available. In the future, gene therapy may be effective in
trafficking may contribute to the RPE degeneration - If the above mentioned tests fail to identify a delaying progression of CH M. Using a recombinant
seen in CH M patients. mutation, reverse transcriptase PCR, northern blot adenovirus, Anand et al. were able to successfully
analysis, protein truncation testing, and deliver human eDNA coding for REP I to
imm unoblot analysis are available (primarily as CHM-affected lymphocytes and fibroblasts. It is still
research tools only}. uncertain whether or not delivery of RE P-1 to retinal
o lmmunoblot analysis is used to detect cells in CHM patients would stop or slow the
anti-REP-1 antibody. Because all CHM gene progression of CHM. but this was an important first
mutations are thought to result in absence of step in gene therapy development for CHM (bib6).
REP-1, most cases can be diagnosed by this
method 2.
168
CHOROIDEREMIA
Issues for R.rdarra/ - The father of an affected male does not have CHM 4. McCullod! JC. The pathologic findings in two cases
As patient symptoms progress and peripheral and nor would be a CHM carrier. of chorolderernla. Trans Am Acad Ophtha/md
central vision worsen, patients may benefit fl"llll -All daughters of an affected male will receive the Oto/aryngo/1950;56:565-72.
referral to a spedalist in low vision services to help abnormal gene and wi II be CHM carriers, howeVI!r, s. MaCOonald IM, Russell, Chan CC. Choroideremia:
them learn to optimize residual vision. it is impossible for an affected male to pass the New findings from ocular pathology and review of
As vision dedines. patients may have to cope with disease on to his sons. recent literature. Surv Ophtha/mol 2009;54(3):
multiple sodaI diffiadties whim may include job
loss, loss of Independence, and depression. Patients
- Prenatal testing for at-rislc pregnancies is possible
using cells obtained from amniocentesis or
401--Q7.
6. Anand V, BarraI DC, Zeng Y, et al. Gene tt1erapy for
c
may benefrt from referral to appropriate chorionic villous sampling, howeVI!r, the choroideremia: In vitro rescue mediated by
professionals to enable them to better cope with disease-causing allele of an affected family recombinant adenovirus. Vision Research
these issues. member must be identified prior to prenatal 2000;43:919-26.
testing. 7. Madlonald IM, Meltzer MR, Smaoui N, et al.
Additional Therepies
Preca Litions from UV exposure may be benefidaI, thus PROGNOSIS Choroideremia.ln: Pagon RA. Bird TC, Dolan CR.
affected Individuals should wear UV-blocklng Most affected males will have severely reduced Stephens K(eds). GeneRevlews, Unlv. Of
sung lasses when outdoors (7). peripheral vision by age 40 years. washington: Seattle, 1993-2003, May 2008
Visual awily in affected males is typically preserved update.
SURGERY/OTHER PROCEDURES 8. Duncan JL. Aleman TS, Gardner LM, et al. Macular
Nearly ore-third af affected males are found to have until later in life, but is also eventually lost. resulting
in blindness. pigment and lutein supplementation in
posterior subcapsular cataracts that can be removed
Most carrier females are asymptomatic, but a small chorolderemla. Exp. Eye Res 2002;74:371-81.
as needed.
percentage will demonstrate symptoms and exam
findings of CHM (typically much more mild than
ONGOING CARE affected males). . CODES
FOU.OW-UP RECOM MENDA110NS COMPUCATlONS
ICD9
Pat!ents should be examined pe~odlcally, and be Blindness as disease progresses
363.55 Choroideremia
monitored for progression with ERG and perlpheraI
visual field analysis.
Refer for low vision services as indicated.
REFERENCES
CLINICAL PEARLS
DIET 1. Strunnikova NV, Barb J, Sergeev YV, et al.
Loss-of-function mutations In Rab escort protein 1 Chorolderemla should be considered In patients
Lutein supplementation (20 mg dally) may be who present with a history of nyctalopia, peripheral
helpfuI, but this data Is wealc (8). (REP-1) affect intracellular transport in fibroblasts
and monocyctes in choroiderem ia patients. PLoS visuaI field loss. a genetic transmittance pattern
Omega-3 fatty acids, fresh fruit, dark green leaiy consistent with an X-linked recessive disorder, and a
ONE 2009;4(12}:e8402.
Vl!getables. and antioxidant supplements may be characteristic funduscopic appearance of extensive
benefidal (7). 2. MacDonald IM, Mah DY. Ho YK, et al. A practical
diagnostic 1est for chorolderemla. Ophthalmology RPE/choroidal atrophy.
PA11ENT EDUCATION 1998;105(9): 1637-40. By approximately age 40 years, many affected males
Pat!ents and their families should undergo genetic 3. Roberts MF. Fishman GA. Roberts DK, et al. will have si!VI!rely reduced peripheral vision with
counseling to educate them regarding the X-linked Retrospective, longitudinal, and cross sectional relative sparing of central awily into the seventh
rec:essiVI! nature af transmission of CHM: study af visual awily impairment in decade.
- A mother af more than 1 affected rna le is an choroideraemia. BrJ 0/ilthalmo/2002;86(6}: Most female carriers are asymptomatic, but a small
obligate carrier (A proband with no family history 658-62. number of female earners may present w1th
of CHM may haVI! a de novo mutation, and it is symptoms ranging from nyctalopia to YlsuaI fleld
appropriate to examine the retina of the mother loss and with funduscopic findings of peripheral RPE
to look for signs of carrier status.) changes and macular RPE mottling.
- A carrier mother has a SO% d!anc:e of passing on
the CHM gene mutation to ead! offspring; ead!
male child has a 50% chance of having CHM and
each female child has a 50% chance of being a
CHM carrier.
169
CHRONIC IRIDOCYCLITIS
RizSomani
Matthew Tennant
TB- PPD skin test, chest x-ray, Quanti FE RON gold
Syphilis enzyme immunoassay
HLA typing: Ankylosing spondylitis, inflammatory
DESCRIPTION HISTORY
Many patients are asymptomatic until they develop bowel disease
Chronic iridocyclitis typically has an insidious onset
complications such as cataract and/or band Follow-Up & Special Considerations
and lasts longer than 6 weeks
keratopathy Patients with pauciarticular arthritis should have
Diagnosis may be delayed as it is often slit-lamp assessments every 3-4 months for the first
asymptomatic Questions to ask.:
- Onset and duration of symptoms - usual gradual 5 years of arthritis onset (3).
Bilateral involvement is common
onset with duration >6 weeks Imaging
EPIDEMIOLOGY - Past episodes/recurrences and response to Chest x-ray or CT Scan - for TB, sarcoidosis
Incidence treatment -x-ray of affected joints in JIA
Idiopathic chronic iridocyclitis: 1case per 300,000 - Review of systems- presence or absence of rash, - Gallium scan if indicated- sarooidosis
population (1) joint pain, GI symptoms (e.g., bloody diarrhea) Diagnostic Procedures/Other
Prevalence PHYSICAL EXAM Anterior chamber tap for PCR testing may be
Idiopathic chronic iridocyclitis uveitis: 1 case per Red eye with episcleral injection, although, absence performed to rule out toxoplasmosis, HSV. VN, TB if
14,000 population (1) of episcleral injection is common no other systemic disease is identified.
RISK FACTORS Aqueous cell and flare DIFFERENTIAL DIAGNOSIS
Chronic systemic diseases associated with iridocyclitis. Keratic precipitates - cellular deposits on corneal See "Etiology:
rJ
endothelium oomposed of epithelioid cells,
Genetics lymphocytes, and polymorphs
Increased prevalence with HLA-A2, DRS, DR1t, DR12,
DQA1*040t, *0501, *0601, and DPB1*0201 in Characteristics and distribution provide clues to TREATMENT
association with early onset pauciarticular juvenile etiology
-Fuchs heterochromic iridocyclitis- stellate KP MEDICATION
arthritis (2)
diffusely over entire endothelium First Line
GENERAL PREVENTION -Granulomatous disease- Mutton fat KP (large, Topical steroid (prednisolone acetate 1%) frequency
Patients at risk of developing chronic iridocyclitis greasy) usually more inferiorly varies depending on severity
should be routinely screened. - Iris nodules -Cycloplegic (scopolamine 0.25% b.i.d or Cyclogyl
- Koeppe nodules- at pupillary border 1% b.i.d for significant synechiae and/or
PATHOPHYSIOLOGY inflammation)
Hallmark is infiltration of leukocytes out of - Busacca -anterior iris stroma
- Rarely iris crystals -Topical glaucoma therapy if lOP elevated
microvasculature and into surrounding inflamed
- Posterior synechiae Second Line
tissue.
- Peripheral anterior synechiae Periocular/subtenons steroid (Triamcinolone acetonide
ETIOLOGY -Granulomatous deposits (Berlin nodules) on 40 mg) or intravitreal steroid (2-4 mg). Triesence
Juvenile idiopathic arthritis (JIA) trabecular meshwork (preservative-free Triamcinolone)
Sarooidosis - Band keratopathy - from chronic inflammation
Fuchs heterochromic iridocyclitis - Cystoid macular edema ADDITIONAL TREATMENT
Tuberculosis - Elevated intraocular pressure from trabeculitis or General Measures
Syphilis PAS local therapy for monocular disease- subtenons or
- Hypotony can develop in longstanding iridocyclitis intravitreal Kenalog!Triesence
Postsurgical uveitis
DIAGNOSTIC TESTS & INTERPRETATION For bilateral disease oonsider systemic steroid
Herpes simplex/zoster
treatment
Ankylosing spondylitis Lab Consider corticosteroid sparing agent if
Inflammatory bowel disease Initial lab tests
inflammation is not controlled within 6 weeks of
Be~cet's disease Screening tests should be tailored to causes of
therapy initiation
chronic iridocyclitis
CBC Issues for Refe"al
JIA- antinuclear antibodies, rheumatoid factor, Patients with ocular sarcoidosis should be referred
x-ray of affected joints, HLA typing to a Pulmonologist
Sarcoidosis- angiooonverting enzyme assay (ACE), - Pediatric patients with chronic iridocyclitis need a
Rheumatology evaluation
lysozyme, chest x-ray
- Co-manage systemic steroid sparing agents with
Rheumatology
170
CHRONIC IRIDOCYCLITIS
Additional Tlleraple.s PAnENT EDUCAllON ADDITIONAL READING

Steroid sparing agents for long term Return immediately if iritis recurs, as ea~y treatment
immunosuppression- delayed onset of action- reduces complications. Nussenblatt RB, Whlteup SM. Uve/rls fundamentals
typically 8-12 weeks (4) and dinical practice. 3rd ed. Philadelphia, PA, 2004.
- lmmunosuppressive agents requires routine blood PROGNOSIS Kanski JJ, Pavesio CE, Tuft SJ. Orular inflammatory
Remissions and exacerbations of inflammatllly disease. Phi!adelphia, PA, 2006.
work for potential side effects and should be activity are mmmon
I
co-managed with a Rheumatologist Ehlers JP, Chirag PS (eds). 11Je Wills e.re manual. 5th
- Reduction in vision can occur secondary to
- Antimetabolites- Azathioprine (lmuran), ed. Baltimore. MD, 2008.
delayed presentation and complications of
Metl1atrexate, and Mycophenolate mofetll
prolonged I~docyclltls
(CeiiCept)
- T-cell inhibitors- Cydosporine and Tacrolimus COMPLICAnONS . CODES
- Alkylating agents - Cydophosphamide (Cytoxan) Cataract
and Chlorambucll (Leukeran) Band keratopathy ICD9
-Biologics Glaucoma 364.1 0 Chranic iridocyditis, unspecified
-IL-2 inhibi!Drs- Dadizumab Cystoid macular edema 364.11 Chronic lrldocydlt!s In diseases dasslfled
- Anti-TNFalpha - lnfliximab, Etanercept (EnbreO - Posterior synech lae els!Mtlere
- Recombinant interferon alpha
- Antilymphocytic- Rituximab
SURGERY/OntER PROCEDURES REFERENCES CLINICAL PEARLS
Cataract surgery can reactivate or wo~n . 1. Paivonsalo-Hietanen T, Tuominen J, Vaahtoranta-
iridocyclitis. Preoperative treatment with_ systemic Chronic 111docydIlls Is most mmmonly associated
Lehtonen H, et al. Inddence and prevalence of with juvenile idiopathic arthritis.
steroids 4 days prior to cataract surgery 1s different uveitis emities in Fin land. Aera
recommended (5). All children with paudartia.dar arthritis should be
Ophthalma/ Sand 1997;75(1):76-81. screened for irtdocycl itis every 3--4 months for first
- Ideally uveitis should be inactive for at least
2. Albert ED, Scholz ~Juvenile arthritis: Genetic 5 years after arthritis onset.
3 montl1s prior to cataract surgery. update. Balflleres Clln Rhernnat.o/1998;12(2):
- When medical management of glaucoma falls. Systemic treatment is often required ID control
209-18. intraocular inflammation.
consider surgery with tube-shunt.
- Conventional glaucoma filtration surgery tends to 3. Sautl1wood TR, Ryder CA. Ophthalmological Ocular mmpi ications from chronic iridocyclitis are
fai I in the setting of uveitis. screening in juvenile arthritis: Should the frequency common requiring surgical intervention.
of screening be based on the risk of developing
- Pars plana vitrectomy with membrane peel when When possible, ocular inflammation should be
chronic iridocyditis? Br1 Rheumato/ 1992;31(9):
epinetinal membrane present. mntrolled for 3 months prior to attl!mptlng
633--4.
intraocular surgery.
4. Jabs DA. Rosenbaum JT, Foster CS, et al. Guidelines
ONGOING CARE fur the use of immunosuppressive drugs in patients
witl1 ocular inflamma!Dry disorders:
FOLLOW-UP RECOMMENDAnONS Recommendations of an expert panel. Am J
Patient Monlmtlng Ophthalma/ 2000;130:492-513.
JIA is often aS)TIIptomatic and nequires ongoing 5. Levy-Clarice GA. Nussenhlatt RB, Smith JA.
uveitis screening Management of chronic pediatric uveitis. CINT Opln
- If the child is < 7 years old and ANA positive,. Ophthalma/ 2005;16:281-288.
saeeni ng eye examination every 3--4 months for
4 years. then eveiY 6 months for 3 years. then
annually
- If the child is < 7 years old and ANA negative.
saeenl ng eye exam every 6 months for 4 years,
t11en annually
- If the child is > 7 years old regardless of ANA
status, screening eye exam every 6 months for
4 years. then annually
171
CHRONIC PROGRESSIVE EXTERNAL OPHTHAlMOPLEGIA [CPEO]
Raed Behbehani
The mitochondria is responsible for production of
ATP by oxidative phosphorylation, the detoxification
PHYSICAL EXAM
Ptosis
Symmetric ophthalmoplegia sparing the pupils
DESCRIPTION of reactive oxygen species, regulation of cell Facial/limb weakness
Chronic Progressive External Ophthalmoplegia apoptosis, and other functions such iron Pigmentary (salt-pepper) retinopathy in KSS
(C PEO) is a frequent manifestation of mitochondrial metabolism, fatty acid oxidation, and amino acid
cytopathies, a group of disorders characterized by Ataxia
biosynthesis.
dysfunction of the mitochondria due to mutations in Deafness
The protein complexes carrying out oxidative
mitochondrial DNA (mtDNA) or in nuclear genomes phosphorylation are partly encoded by mitochondrial DIAGNOSTIC TESTS & INTERPRETATION
that code for mitochondrial components. genome (complex I, Ill, IV. ATP synthetase) and Lab
CPEO is not a nosologic entity and is only a sign in complex II is encoded exclusively by nuclear genome. Initial lab tests
the clinical spectrum of mitochondrial cytopathies, in The majority of mitochondrial proteins are encoded Blood
which the heart, central nervous system, and by nuclear genome and are transported into the - Routine blood tests (CBC and electrolytes) and
endocrine disturbances can occur. mitochondria. Therefore, nuclear gene mutation can endocrine work up (Hb A1c. TSH, thyroxine)
Kearns-Sayers syndrome (KSS) is a clinical result in mitochondrial dysfunction. - Serum creatinine kinase and resting lactate can be
phenotype of mitochondrial cytopathy defined as elevated
CPEO and pigmentary retinopathy before the age of COMMONLY ASSOCIATED CONDITIONS
-Acetylcholine receptor antibodies to rule out
20 years and at least one of the following: Complete Mitochondrial encephalopathy with lactic acidosis
myasthenia gravis
heart block, high CSF protein (> 1 mg/ml), and stroke-1 ike episodes (M ELAS)
-A phenotype characterized by the triad of 1) CSF
cerebellar ataxia, and endocrine disturbances. - High CSF protein in KSS (> 1 mg/ml) and high
stroke-like episodes before the age of 40, 2)
encephalopathy with seizures or dementia and, 3) lactate in MELAS
ALERT
lactic acidosis and/or ragged red fibers - Electrocardiography to rule out cardiac conduction
Cardiac conduction defects can be lethal and should defects and cardiac hypertrophy are essential in all
be ruled out in patients with suspected CPEO, - 79% of patients with MELAS will have
homonymous hemianopsia due involvement of the cases of suspected CPEO
especially KSS.
retrochiasmal visual pathways in the occipital and Follow-Up i Speci:;d Considerations
parietal lobes. Electroretinography (ERG)
EPIDEMIOLOGY - In pigmentary retinopathy in KSS, ERG can be
Mitochondrial neurogastrointestinal
lnddence nonmal or show rod, cone, or mixed rod-cone
encephalomyopathy (MNGIE)
CPEO typically have an onset in childhood or early dysfunction.
-Autosomal recessive CPEO in association with
adolescence but they can occur at any age.
peripheral neuropathy, leukoencephalopathy and Imaging
RISK FACTORS gastrointestinal symptoms (nausea, vomiting, Neuroimaging of the orbit and brain is
Genetics diarrhea) recommended to rule out other causes of
Most cases of CPEO are due to sporadic single Myelonic epilepsy with ragged-red fibers (MERRF) ophthalmoplegia.
mutations in the mitochondrial DNA occurring Progressive myoclonic epilepsy, ataxia, optic - MRl of the orbits: Thin extraocular muscles
during the maternal oocyte stage, which is atrophy, and/or dementia - MRl of the brain: White matter and basal ganglia
propagated to all future mtDNA during hyperintensities (KSS), cortical and cerebellar
~ DIAGNOSIS
embryogenesis. These single large mutations cause atrophy (3)
large gene rearrangements in mitochondrial - MRspectroscopy: Large lactate peaks within the
DNA(1). stroke-like lesions (MELAS)
HISTORY
Autosomal dominant and autosomal Diagnostic Procedures/Other
Progressive ptosis.
recessive forms of inheritance (nuclear inheritance) Skeletal muscle biopsy
Muscle weakness (limbs)
are less frequent and some nuclear genes have been -The gold standard test for diagnosis
implicated including TP, ANTI, Twinkle, POLG1, Decreased vision and night blindness.
-Staining with Gomori Trichrome stain will show
POLG2, and OPA1 (2). Hearing loss
ragged-red fibers in 50% of cases of CPEO.
Cells have multiple mitochondria, which can have Imbalance - Biochemical stains for mitochondrial respiratory
different variations in mutant and wild-type mtDNA. Short stature/skeletal abnormalities chain (I,II,IV) to show defects in oxidative
This condition is referred to as heteroplasmy and Seizures or stroke-like episodes. phosphorylation enzymes
occurs because of the non-random nature of mtDNA Absence of family history does not exclude CPEO - Polymerase chain reaction (PCR) has been recently
replication. used to detect mutations in swabbed buccal cells.
When a certain tissue reaches a certain ratio of
mutant versus wild-type mitochondria, a disease will
present itself (threshold expression).
Tissues high in energy demand such as the heart.
central nervous system, skeletal muscles have low
tissue~pecific threshold of expression.
172
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (CPEO)
Patholog/GIJ Findings ADDITIONAL READING

Ragged-red fibers are classic histological hallmarks ONGOING CARE
of CPEO and represent large accumulation of Fraser JA. B!ousse V, Newman NJ. lhe
enlarged mitll<handria beneath the sarcolemma. PATIENT EDUCATION Neuro-ophthalmology of mitll<handrial disease.
Transmission electron microscopy can show Avoidance of mitochondrial stressors (tobacco. Surv Ophlha/mo/ 201 0;55{4):299-334.
paracrystalll ne ("parking-lot") Inclusions Inside the excessive alcohollntake) Is a nonspecific. yet
prudent recommendation. a
I
abnormal mitochondria. Sea Alsa {Topic, Alprilltm, Electronic
Genetic counseling ~ Mectla Element)
DIFFEREN11AL DIAGNOSIS - Most cases of C: PEO are due to sporadic mutations
Myogenic ptosis with only 4% risk. of transmission from mother to The United Mitochandrial disease foundation.
-Congenital fibrosis syndrome child. WNW.umdf.org
-Congenital myopathy (Myotonic dystrophy) - Men and women with nuclear DNA mutations
- Oculophai)Tigeal dystropy need to be rou nseled about the risk of
Neuromus01l ar disease transmission depending on the mode of
- Myasthenia Gl'iiYis . CODES
inheritance.
- Men w1tl1 mltochondrlal mutatlons need to be ICD9
reassured that they cannot transmit the disease to 378.72 Progressive external ophtf1almoplegia
. TREATMENT their offspring.
MEDICATION PROGNOSIS
FirstUnfl Course: Chronic, slowly progressive. CLINICAL PEARLS
There is no lenown effective treatment fur CPEO and COMPLICAnONS Bilateral symmetric ptosis can precede
treatment is mainly symptomatic. Cardiac ronductlon defects ophthalmoplegia by many years and can the anly
- SUrgical treatment of severe ptosis can be initial sign of CPEO.
benefldalin patients with CPEO. Ud surgery Endocrine disturbances
Patients with CPEO do not usually complain of
should be done with care since Bell's
diplopia despite limitation of ocular movement since
phenomenon is often weak. which can resu It in REFERENCES the ophthalmoplegia is often quite symmetric.
exposure keratopathy.
- Strabismus surgery can be offered to patients 1. Cardaioli E, da Pozzo P, Malfatti E, et al. Chronic Mitochondrial cytopathies have a wide spectrum of
suffl!ring from diplopia. progressive external ophthalmoplegia: Anew dinical manifestations involving many organs and
heteroplasmic tRNA Leu (CUN) mutation of significant overlap between different phenotyp~
SfiCOIId Un11 can occur.
Treatment of endocrine disturbances such as mitochondrial DNA.J Neuro Sd 2DD!!;272:1 06--9.
hyperglycemia with anti-hyperglytemic agents 2. Ammati-Bonneau P, Valemlno MI., Reynler P, et al.
Cardiac conduction defects should be treated with 0 PA1 mutations induce mitochondrial DNA
pacemakers. instability and optic atrophy 'plus' phenotype. Brain
Seizures can be treated with anti-epileptics.
2008; 131:338-51.
Cochlear implant can be offered to patients with 3. Barrag.tn-Campos HM, Vall~e JN, L6 D, et al. Brain
neurosensory deafness. magnetic resanance imaging findings in patients
with mitochondrial cytopathies. Ardr Neurol
ADDITIONAL TREATMENT 2005;62:737-42.
lssws far Rflfflrrill 4. Rotig A, Appelkvist EL. Gerome! V, et al.
Cardiac and endocrinological manifestations can be Quin ine-respansive multiple respiratory chain
serious and should be managed by specialists. dysfunction due to widespread coenzyme q10
deficiency. Lancet 2000;356:391-5.
THERAPIES
Non-proven measures such as the supplementation of
vitamins (vitamin C, thiamine, 812, vitamin E),
rofactors (Coenzyme q10) can be provided and they
are not toxic in their usual doses. (4)
Ptosis/strabismus surgery.
173
CICATRICIAL PEMPHIGOID [CP]IMUCOUS MEMBRANE PEMPHIGOID
[MMP]
Nicole R. Fram
Lab
Direct immunofluorescence (DI F) microscopy or
DESCRIPTION HISTORY immunoperoxidase.
Mucous membrane pemphigoid (MMP) or cicatricial Targeted history of onset. duration. location. quality
of symptoms, associated conditions, and oral/topical Sensitivity DIF alone: 52% (5)
pemphigoid (CP) encompasses a number of systemic
autoimmune diseases that involve cicatrization or medications. Early ocular symptoms include redness. Sensitivity DIF and immunoperoxidase: 83% (5)
scarring of mucous membranes and the sk.in. foreign body sensation, burning, tearing, and mucus Specimen incubated with fluorescein labeled
Traditionally, when there is primarily ocular discharge. anti-human immunoglobulins directed at lgA, lgG,
involvement the term ocular cicatrizing pemphigoid Review of systems (ROS): lgM, lgD, lgE, C3, C4, and fibrinogen
(OCP) is used (1 ). - Skin/Mucocutaneous: Rash on face. scalp, or Diagnostic Procedures/Other
- Extraocular mucosal involvement: Oral (up to extremities (flat erythematous plaques) or inguinal Gold Standard: Conjunctival biopsy
>60%). nasal mucosa. sinuses. pharynx. larynx. area (small vesicobullous lesions), oral ulcers. - Choose an area of inflamed conjunctiva adjacent
esophagus. bowel. anus. urethra. and genitals. bleeding gums (desquamative gingivitis) to limbus in interpalpebral fissure. Do not perform
- ENT: New onset sinus disease, epistaxis (nose biopsy in fornix-om promote symblepharon
EPIDEMIOLOGY bleeds) formation
lnddence - Respiratory: Hoarseness or dysphonia - Place topical anesthetic drop and apply cotton
1/15,000--1/16,000 (possibly an underestimation as (laryngeallvocal cords), laryngeal adhesions. and swab soak.ed with 4% lidocaine over the intended
these are advanced cases at the time of diagnosis) strictures causing difficulty breathing area for conjunaival biopsy. lnjea 0.5 cc of 2%
(2) (tracheostomy) lidocaine with epinephrine subconjunaivally and
Mean age of onset sixth to seventh decade (2) - Gastrointestinal: Dysphagia, heartburn excise 1.5 x 1.5 mm area of conjunctiva for
2:1 female:male ratio (2) - Genitourinary: Genital ulcers biopsy. Must be processed fresh (no formalin) (1)
RISK FACTORS PHYSICAL EXAM Pathological Findings
Increased incidence of autoimmune disease such as Classie signs include: A line of homogenous linear fluorescence at the BMZ
rheumatoid arttuitis (17%) (2) In early disease. nonspecific papillary conjunaivitis. Eosinophils may be found on conjunctival scrapings
Mean duration of symptoms to diagnosis is conjunaival vesicles and ulcers, fine ("lacy")
2.8 years. DIFFERENTIAL DIAGNOSIS
subepithelial scarring on tarsal conjunaiva, Cicatrizing conjunctivitis (1)
Genetics sh rink.age of inferior fornix, and symblepharon
formation, trichiasis, corneal scarring. In later Infectious conjunctivitis:
Increased frequency in HLA-DR4 and HLA-Dqw3 (3).
disease, obliteration of fornix and lacrimal gland - Baaerial (Corynebacterium diphtheriae. Beta
PATHOPHYSIOLOGY duaules, and k.eratinization of ocular surface. hemolytic streptococcus, Neisseria gonorrhea)
Systemic autoimmune disease where circulating -Viral (Adenovirus (8&19), Herpes Simplex
Stages (Foster/Mondino) 25
antibodies bind to antigens of the basement Conjunaivitis)
- Stage I: Subepithelial fibrosis
membrane zone (BMZ), aaivating a complement - Chlamydia (Trachoma, Lymphogranuloma
- Stage II: Fornix
cascade, recruitment of inflammatory cells and o a) 0--25%
venereum)
hydrolytic enzymes leading to digestion of the 0 b) 25-50%
Medication Induced: "Pseudopemphigoid"
lamina Iucida and adivation of fibroblasts with o c) 50-75% - Systemic: Practolol, D-penicillinamine
eventual scar tissue formation (1.4) 0 d) 75-100% -Topical: Epinephrine, Echothiophate iodide,
Linear deposition of antibodies lgG, lgA. or C3 - Stage Ill: Symblepharon Pilocarpine, ldoxuridine
along the epithelial BMZ o a) 0--25% Dermatobullous:
0 b) 25-50% -Toxic Epidermal Necrolysis
EnOLOGY
o c) 50-75% -Dermatitis Herpetiformis
Idiopathic autoimmune disease
o d) > 75% involvement of symblepharon - Epidermolysis bullosa
"Pseudopemphigoid": Medication induced (see - Pemphigus vulgaris
Differential Diagnosis) - Stage IV: Ankyloblepharon & k.eratinization
External exam: Rashes and oral ulcers -linear lgA
COMMONLY ASSOCIATED CONDITIONS Eyelids: Keratinization of lid margin, trichiasis. - Porphyria cutanea tarda
Cicatrizing conjunctivitis distichiasis. scarring of meibomian glands. Autoimmune
Sk.in involvement entropion, lagophthalmos. and ankyloblepharon -Graft-versus-host disease
Desquamative gingivitis Conjunctiva/Sdera: Papillary conjunctivitis, -OCP
Esophageal or laryngeal involvement may be fatal if conjunaival vesicles, and ulcers, subepithelial -Sjogren's syndrome
adhesions and/or strictures develop. conjunaival fibrosis (use redfree broad beam on - StevensJohnson Syndrome
slitlamp), limbitis, shrink.age of inferior/superior - Systemic lupus erythematosus
fornix. symblepharon. obliteration of lacrimal gland
duaules (late). k.eratinization (late)
Cornea: Punctate epithelial k.eratitis, epithelial
defect, corneal ulcer, neovascularization or scarring,
k.eratinization, perforation
Remainder of anterior and posterior segment
examination typically unremark.able
174
CICATRICIAL PEMPHIGOID (CP)IMUCOUS MEMBRANE PEMPHIGOID (MMP)
Trauma
-Chemical/thermal bum
- Conjunctival surgery
Therapeutic treatment goal is a WBC count between
3,000-4,000. Typical starting dose Is 75 mg PO q
daily. Patients should drink large amounts of water
(f) ONGOING CARE
-Radiation to minimize bladder side effects. Treatment should FOLLOW-UP RECOMMENDATIONS
Other be continued for at least 9 months before tapering. Patient Monitoring
- Atopic Keratoconjunctivitis Consult Rheumatology or Hematology/Oncology for Monitor with regular exams and anterior segment
assistance with dosage and monitoring (1 ). photographs for progression
I
- Rosacea blepharoCillljunctivitis
- Ugneous conjunctMtls Serial bacte~al conjunctival cultures to evaluate
- Sarmidosis ALERT overpopulation/colonization with bacteria that may
- Paraneoplastic ocular dcatrida Ipemphigoid Cyclophosphamide side effects include anemia, lead to microbia I keratitis
(POCP) alopeda, anovulation, azoospermia, hemormagic
cystitis (bone marrow suppression), bladder cancer. PROGNOSIS
Depends on stage of disease at presentation. High
TREATMENT SamndUH d lnlcal suspicion, early dlag nosIs, and appropriate
Methotrexate, Mycophenolate, Azathioprine, therapy can reduce morbidity.
OVerall Apprc111dl to Treatmant (1) Cyclosporln A. IVIG, Blologlcs (see additional reading).
Address systemic findings and consult Internal ADDmDNAL TREATMENT REFERENCES
Medidne and/or Dermatology depending on
comorbld Illes General Measures 1. Holsdaw DS. Owlar clcatrtdal pernphlgold./nr
Treatment of local eyelid disease: Ophthalmo/ Clin 199a;38:89-1 06. [A]
Initiate systemic treatment with
immunosuppressives and consult Rheumatology or Trldllasls/Distldllasls: Epilation with electrolysis 2. Foster CS. Cicatricial pemphigoid. Trans Am
Hematology/Oncology for dosage/patient or penmanent surg leal removal Ophthalmo/ Soc 1986;84:527-1i63. [AI
monitoring Keratinization of the eyelid margin: 3. Zaltas MM, Ahmed AR, Foster CS. Assodation of
Management of local eyelid and CC1Jiar surface ICellltinization can lead to colonization of bacteria HLA-DR4 with ocular dcatrlclal phemphlgold. Curr
disease and subsequent microbial keratitis. Topical Vitamin E~ Res 1989;8:134. [A]
A(all-transretinoic acid) ointment D.Ot% to the 4. Mondino BJ, Brown Sl. Ocular dcatricial
MEDICATION eyelids q.h .s-q.l.d will reduce keratinization pemphigoid. O{iltha/mo/agy 1981;88:95-100. [AI
Begin systemic chemotherapy Mien conjunctivalloral
mumsa biopsy proven or ove!Whelming dinical COMPLEMENTARY a ALTERNATIVE 5. Power WJ, Neves RA, Rodriguez A, Dutl JE, Foster
suspldon with dowmented progression of THERAPIES CS. lnaeaslng the diagnostic y1eld of conjunctiva I
conju netivai scarring and/or symblepharon Treatment of blepharitis/meibomian gland biopsy In patients with suspected ocular dcatrlclal
dysfunction; consider oral doxycycline, topical pemphigoid. O{ilthalmo/agy 199S; 102(8):
Prior to initiation of any systemic therapy, obtain 1158-63. [AI
baseline CBC. liver enzymes, Basic Metabolic panel, antibiotics, lid hygiene)
Hepatitis panel, Urinalysis, pregnancy test, or sperm Puncta! occlusion ~ Schl rmer testing without
banking Of applicable). anesthesia < 2 mm ADDITlONAL READING
FitstLine SURGERY/OTHER PROCEDURES
Mild Diliea5e: Dapsone. a suIlone derivative. for Fomlx reconstl\ldlon/l.agopMhalmos: Can Roat Ml, Sossi G, LaCY, et aL Hyperproliferation of
early, active but non-progressive disease perform eyelid procedure and/or mua>us membrane conjunctival fibrobroblasts from patients with
Least effective treatment. Should discontinue if no graft (buccal}lamn lotlc membrane graft If t!if Is quiet clcalr1dal pemphigoid. Arch Ophthalmo/ 1989;1 07:
result after 4 weeks and switch to cyclophosphamide and on patient is on systemic immunosuppression 1064-1 067. [A]
Enlnlpion: Only perform when eye is quiet and Saw VPJ, Dart JKG, Rauz S, et al.
ALERT patient is on systemic immunosuppression Immunosuppressive therapy for ocular mucous
Dapsone should not be used in patients with sulfa Comeal transplantation/Permanent membrane pemphigoid strategies and outcomes.
allergy. Prior to initiation, test for G&PD Keratoprosthesls: For successful comeaI Ophthalmology 200i;1t 5(2):253-261. [A]
deficiency (severe hemolytic anemia with transplantation, disease should be quiet and the Sam I N, L.etko E, Androudl S, Daoud Y, Foster CS,
dapsone). Side effects include nausea, abdominal patient should be on systemic therapy. Further, Ahmed AR.Intravenous immunoglobulin therapy in
pain, hepatitis, and periphera I neuropathy. patient must have adequate tear production with patients with ocular cicatricial pemphigoid: A
functioning stem cells for re-epilhelialization. long-term follow-up. Ophthalmology 2004;
Moderate to severe disease: Permanent kl!ratoprosthesls may be considered In 111: BBD-1382. [A]
Cydophosphamide oral corticosteroids while patients with adequate tear production and stem
waiting for tydophosphamide to take fifect. Must
taper oral steroids over 1-2 months due to adverse
cell deficiency. Q S11 Also <Taplc, Algol1thm, Electronic
~ Madia Elll'llnt)
side effects (bone loss, GI bleeding, hyperglycemia, ALERT
adrena Isuppression). Oral precln lsone alone Is not Any surgical procedure may trigger aa.tte Conjunctivitis
appropriate treatment for OCP and can confound exacerbation of disease. Therefore, all procedures
ovelllll therapeutic goal secondary to leukocytosis. (eyelid, conjunctival, catalllct, or comeaO should be
performed while patient is quiet and on systemic . CODES
Immunosuppression.
ICD9
372.63 Symblepharon
694.60 Ben lgn mucous membrane pemphigoid
without mention of ocular involvement
694.61 Benign mucous membrane pemphigoid with
ocular involvement
CLINICAL PEARLS
Early signs: Papillary conjunctivitis, trichiasis,
subeplthella Isea rrlng of tarsal con] unctlva, fomlx
foreshortening, and corneal scarring
Later signs: Symblepharon, entropion,
lagophthalmos, keratinization, and ankyloblejjharon
175
CUNICAllY SIGNIFICANT DIABmC MACUlAR EDEMA [CSME]
Mimi Liu
~ BASICS Pregnancy Considerations

Diabetic retinopathy and clinically significant ~ DIAGNOSIS
diabetic macular edema (CSM E) may accelerate
DESCRIPTION during pregnancy. Consider a dilated eye
HISTORY
The Early Treatment Diabetic Retinopathy Study Duration and control of diabetes
examination and optimization of glucose control
(EDTRS) defined CSM Eas one ofthe 3 following Insulin dependent?
prior to pregnancy
criteria: History of hypertension or hyperlipidemia?
- 1) Any retinal thickening within 500 microns of Dilated exam is recommended during the first
trimester, ttl en every 1-3 months thereafter, Renal insufficiency7
the center of tile fovea
- 2) Hard exudates within 500 microns of the center depending on the severity of the retinopathy. PHYSICAL EXAM
of the fovea, which has adjacent retinal thickening Retinopathy usually returns to baseline at CSME is a clinical diagnosis
- 3) Retinal thickening at least 1 disc area in size, 9-1 2 months postpartum ~ac~lar tfliclc.ening is visualized by slit-lamp
any part of which is within 1 disc diameter of the b1om1croscopy (contact lens exam may aid in
Genetia diagnosis)
center of the fovea Although there is a higher incidence of diabetic
CSME may be focal or diffuse: Note the severity of diabetic retinopathy
retinopathy in certain ethnic groups, diet and lifestyle
- Focal CSM Eis caused primarily by focal leakage factors outweigh tflese risks. Note presence of vitreomacular interface
from individual microaneurysms or small clusters abnormalities
of microaneurysms and dilated retinal capillaries. GENERAL PREVENTION
Diabetic control - Glycosylated hemoglobin [H bA 1c] DIAGNOSTIC TESTS & INTERPRETATION
- Diffuse CSM Eis characterized by generalized
leakage from the posterior retinal capillary bed should be less than 7% Lab
Control of systemic hypertension Evaluation of Hb A1C, blood pressure and blood lipids,
due to a generalized breakdown of the inner
and renal function (BUN and creatinine).
blood-retinal barrier. Normalization of triglycerides and lipids
Regular exercise Imaging
EPIDEMIOLOGY Initial approach
lnddence PATHOPHYSIOLOGY Fluorescein angiography is not required for the
CSME is the leading cause of visual loss in diabetic Chronic hyperglycemia causes breakdown of the diagnosis of CSME.
patients. blood retinal barrier by a number of metabolic and Fluorescein angiography is obtained for the
Up to 4% of all patients with diabetes will develop cellular alterations:
-Accumulation of polyols and advanced following reasons:
CSME during their lifetime. -To rule out central macular ischemia
The Wisconsin Epidemiologic Study of Diabetic glycosylation end products
-To identify the leaking microaneurysms
Retinopathy (WESDR) showed ttl at the 4 year - Overproduction of reactive oxygen intermediates
-To identify areas of diffuse capillal)' leakage
incidence of CSME was 4.3 %, 5. 1%, and 1.3% in - Patflologic activation of protein kinase C
- Increased expression of multiple cytokines (VEG F. -To identify areas of capillary nonperfusion
type I, insulin-treated type II, and non-insulin-treated elsewhere in the macula
type II patients respectively. The 10-year incidence was PDGF, TN F-a, and others)
-Thickening of the basement membrane, loss of Color stereo fundus photographs are useful to
~0: 1%, 25.4%, an~ 13.9% respectively. The 25 year monitor long-term retinal changes.
mc1dence of CSME 1n type 1diabetes was 17% (1 ). pericytes, and increased leukostasis
- Diabetics are thought to be in a chronic state of Optical coherence tomography is very helpful to rule
Prevalence subclinical inflammation out macular pucker/epiretinal membrane,
Approximately 500,000 Americans have CSME. vitreomacular traction, and to monitor response to
ETIOLOGY therapy.
RISK FACTORS Chronic hyperglycemia
Duration of diabetes Follow-up ll special considerations
Vitreomacular traction may contribute to the Close follow-up (every 1-3 months) while actively
Poor glycemic, blood pressure, and blood lipid development of CSM E.
control treating CSME.
In adu It onset diabetes, the use of insulin is a risk Continued monitoring is critical as CSME is
factor frequently a chronic process.
Proteinuria and nephropathy Regular communication and coordination of care
with primary care provider and/or endocrinologist.
Level of diabetic retinopathy (CSM Eoccurs in 3%
mild non-proliferative diabetic retinopathy (NPDR)
versus in 71% of patients with proliferative diabetic
retinopathy (PDR)
176
CLINICALLY SIGNIFICANT DIABEnC MACUlAR EDEMA (CSME)
Patholog/GIJ Findings ADDITIONAL TREATMENT 3. The Diabetic Retinopat11y Clinical Research

Thickening of the basement membrane, loss of Issues for Refeml Network.. Randomized trial evaluating r.Jnlblzumab
I
pericytes, and decreased cellularity of endothelium Consider referr.~lto a vitreoretinal spedalist. especially plus prompt or deferred laser or triamcinolone plus
Aocumulation of fluid can be extracellular or if there is diffuse CSME or CSME with vitreomacular prompt laser fur diabetic macular edema.
intracellular (Muller cells) interface abnormalities. Ophthalmo/ogy 201 0 Apr 22. Epu b ahead of print.
Additional Therapies 4. Beck RW, Edwards AR, Aiello LP, et aI. Diabetic
Exudillive ARMD Fenofibrate, a fibric add derivative witl11 ipid modifying retinopathy clinical researth network three-year
follow-up of a r.~ndomized trial comparing
Retinal vein occlusions effects, may reduce the need for laser treatment for
CSMEIn diabetic patients. focal/grld photocoagulation and lntravltreal
Hypertensive retinopathy triamd nolone fur diabetic macular edema. Arrh
Cystoid marular edema, Irvine-Gass SURGERY/OTHER PROCEDURES Ophtha/mol 2009; 127:245--51.
Uveitis Consider vitrectomy witl1 membrane peeling for 5. Diabetic Retlnopatl1y ClinleaI Research Network..
Macular pudc'er CSME (without refractory to laser and Vitrectomy outcomes in eyes with diabetic macular
Radiation retinopatl1y pharmaartherapy edema and vitreomacular traction. Ophthalmology
Membrane peeling (both epire1inal membrane and 201 0;117(6):1 087-1 093.e3.
Imemalllmltlng membrane) may benefit patients
. TREATMENT with CSMEand 1aut posll!rior hyaloid and/or
macular pudcer (5)[ B[. ADDITIONAL READING
MEDICATION
First Line Early Treatment Diabetic Retinopatl1y Study research
Control of blood glucose, blood pressure, and IIplds group. Photocoagulation for diabetic mawlar
ONGOING CARE edema. Early treatment diabetic retinopathy study
Focal laser photocoagulillion
FOLLOW-UP RECOMMENDATIONS report number 1. Alch Ophthalmology 1985;103:
Second Line Dilated eye exam every 3--4 montl1s for severe NPDR 1796--806.
As of tl1 esummer of 2010, none of the following and PDR. Schwartz SG, Flynn HW Jr, Scott IU.
are FDA approved treatments for CSM E. Pharmacotherapy for diabetic retinopathy. Expert
DIET Ofin Pharmarother 2009;tO(n:1 123-31.
lntravitreal anti-VEGF agents (ranibizumab. ADA diet
bevadzumab) alone or In combination with laser Keedl AC, Mitchell P, Summanen PA, et al. Effect of
treatment may be superior to laser alone (2)[A), PROGNOSIS fenoflbrate on the need for laser treatment for
(3)[A]. 24% of patients witl1 CSME will develop moderate diabetic retinopathy (FIELD study): A r.~ndomized
lntravltreal steroids may be a useful ad]unct but visuaI loss (doubling of the visuaI angle) in 3 years. controlled trial. Lancet 2007;3 70:1687-97.
when used alone are inferior to focal laser (4)[A). Focal laser phoiDCOaguIat!on reduces t11e rlsk of
However, among patients witl1 poor visual acuity at vision loss by SO%.
baseline (approximately 201200 or worse), Newer therapies and combination therapies may . CODES
intravitrealtriamdnolone 4 mg was assodated witl1 further Improve visual outcome In patients with
better visual aruity outcomes than photocoagulation CSME. ICD9
(4)[A]. 250.50 Diabetes mellitus witl1 ophthalmic
Periocular steroids may be used in cases of severe manlfestatlo~ type II or unspedfled type, not
CSM E, but is less !ffective than intravitreal !il!!roids.
REFERENCES stated as uncontrolled
various sustained release steroid implants 1. Klein R, Knudtson MD, Lee KE, et al. The Wi5(onsin 362.01 Background diabetic retinopatl1y
(Retisert, lluvien, Posurdl!lt, 1-vation) are in dinical Epldemlologlc Study of Diabetic Ret! nopathy XXIII: 362.83 Retinal edema
trials. The twenty-1ive-year inddence of macular edema in
Additional pharmacotherapy agents are currently persons with type 1 diabetes. Ophthalmology
under Investigation. 2009; 116:497-503. CLINICAL PEARLS
- Aflibercept (VEGFTrap-Eye} is a recombinant 2. Elman MJ, Aiello LP, Beck RW, et al. Randomized
fusion protein active against all VEGF-A isoforms Strict control of blood glucose, blood pressure, and
trial evaluating ran ibizumab plus prompt or lipids are essential In the prevention and
and placental growth factor. deferred laser or triamdnolone plus prompt laser management of CSMEand diabetic retinopathy.
- Sirolimus (rapamycin) is a macrolide antifungal for diabetic macular edema. Ophthalmology
witl1 anti-VEGF activity. Focal/grid laser photocoagulation remains the
201 0; 117(6):1064-1 077.e35.
standard of care for CSM E.
Numerous pharmacological therapies are in clinical
tria Is and may offer improved outcomes in patients
with CSME.
177
COLOBOMA
Irina Belinsky
Jonathan H. Salvin
~ BASICS
Multiple genetic mutations and chromosomal Lab
defects have been identified: Initial lab tests
DESCRIPTION - Infection or teratogen exposure in utero Karyotype and microarray if systemic abnormalities
Congenital coloboma (plural: "colobomata") is a - Intrauterine vitamin A deficiency not in keeping with a recognizable syndrome
defect manifesting as a cleft or gap due to the - Idiopathic Specific genetic analysis based on the clinical
incomplete closure of the fetal (choroidal) fissure: diagnosis of systemic syndrome
- Unilateral or bilateral, typically located in the COMMONLY ASSOCIATED CONDITIONS
Microphthalmia with or without cyst: Follow-up ll special considerations
inferonasal quadrant
- Isolated or associated with other intraocular -Visual field defect (superior scotoma) Genetics consult
-Nystagmus
anomalies or multisystem anomalies Imaging
- Lens notch may be present due to deficient
EPIDEMIOLOGY Initial approadl
zonules in the area of ciliary body coloboma (there
2.6 per 10,000 births in the USA (1)[CJ Ultrasound to confirm coloboma and assess for the
is no true lens coloboma).
presence of orbital cyst if not clinically apparent:
RISK FACTORS -Other systemic malformations (6)[C]
-A scan for axial length and possible
Microphthalmia: microphthalmia
- Numerous genetic defects, chromosomal
aberrations, systemic syndromes
~ DIAGNOSIS - Brain MRI to assess for CNS pathology especially if
bilateral optic nerve involvement
- Possibly teratogens. such as thalidomide and HISTORY Follow-up ll special considerations
alcohol Detailed family history of coloboma or related Radiographs, echocardiogram, and audiology
- Prenatal vitamin A deficiency has also been congenital ocular disease (family members may have evaluation as indicated in some cases:
implicated asymptomatic coloboma) pregnancy and birth - Examine every 6 months for retinal detachment
Genetics history, known exposure to infection or teratogen in (NOTE: Breaks will be in intercalary membrane
Key coloboma-associated disease genes include utero: within coloboma)
Sonic hedgehog (,SH/1), PAX6, MAF1, CHX10, 0TX2, - Other known associated systemic anomalies
- May have history of leukocoria Diagnostic Procedures/Other
CHD7 (CHARGE syndrome), GDF6, CRYM, and Genetic counseling and molecular genetic testing as
DPD: PHYSICAL EXAM appropriate and available
- 15% cases are isolated, 58% occur in conjunction Vision assessment.
with other congenital anomalies, and 27% as part Pathological Findings
Slit-lamp exam and indirect ophthalmoscopy (with Defective, dysplastic, or absent segment of ocular
of a well-defined multisystem syndrome (S)[CJ. general anesthesia as needed):
- Isolated forms are most often sporadic, but can be tissue:
- Iris coloboma will appear as a pupil notch in the - Overlying retina is dysplastic and gliotic with
autosomal dominant, autosomal recessive, or inferonasal quadrant ("keyhole" pupil). It may
X-linked recessive (least common). rosettes sometimes present. RPE at the edge of
have mild forms with absent cellarette or deficient defect is hyperplastic (2)[C[
- Most common multisystem syndrome is CHARGE iris stroma in the same quadrant.
(MIM 214800) (6)[C]. - Chorioretinal coloboma appears as a sharply DIFFERENTIAL DIAGNOSIS
- Syndromic forms can be autosomal dominant (i.e., demarcated, white, excavation in the fundus. It Morning glory disk anomaly (may be considered a
Papillorenal syndrome, PAX2, isolated optic nel'le may have overlying retinal vessels or form of optic nerve coloboma):
coloboma"), autosomal recessive (i.e., hyperpigmented edges. - Optic nerve pits (may be considered a form of
Meckel-Gruber syndrome, MKSI), Xlinked - Strabismus and nystagmus assessment optic nerve coloboma)
recessive (i.e., Lenz microphthalmia syndrome, -Assess visual fields for superior scotoma - Optic nerve hypoplasia
BCOR), or X-linked dominant (i.e., Goltz focal - Periorm accurate refraction, as risk of amblyopia is - Optic nerve staphyloma
dermal hypoplasia). high - In papillorenal syndrome, the abnormal optic
GENERAL PREVENTION -Assess for retinal detachment nerve is not truly colobomatous but larger with an
Genetic counseling and/or prenatal testing (if gene -Assess for the presence of foveal reflex when enlarged cup.
mutation or syndrome known in family): macula involved -The term "macular coloboma" has been used to
-Avoidance of in utero exposures to teratogens -Thorough systemic examination for other describe a geographic defect of the macula as
anomalies seen in Leber congential amaurosis or infections
PATHOPHYSIOLOGY - Full dilated exam and careful iris slit lamp of such as toxoplasmosis or amniocentesis needle
Failure of the fetal fissure to close during the 5th to family members injury. This is an incorrect use of the term
7th week of gestation: coloboma (i.e., fetal fissure not involved).
- Primary defect is a failure of closure of the retinal - Upper and eyelid coloboma are not defects of the
pigmented epithelium resulting in the failure of fetal fissure.
neural crest differentiation of underlying choroid,
and dysplastic differentiation of overlying sensory
retina (intercalary membrane), or a complete
absence of overlying iris.
- Tlming of the defect may explain the associations
with specific systemic malformations.
178
COLOBOMA
PATIENT EDUCAnON 3. Chang 1.., Blain D, Bertuzzi S, 1!1 al. Uveal coloboma:
. TREATMENT Genetic cou nsellng: Clinical and basic science update. CurrOpln
- Low vision Intervention (Importance of safety Ophthalmo/ 2006; 17:447-470.
MEDICATION glasses and goggles, teaching compensation for s.
4. Gregory-Evans CY, Williams MJ, Halford et al.
None for the primary disordl!r but may nl!l!d visual field limitations, ameliorating photophobia Ocular coloboma: A ll!ilssessment in the age of
treatment for systemic Involvement with tinted glasses or brimmed hat. etc.) molecular neuroscience. J Med Genet 2004;4t :
- Special assistance in school as needed
- Support group: http:llhealth.groups.yahoo.coml
881-891.
5. Bermejo E, MarUne.z-Frlas ML Congenital eye
c
General Meuutes group/Coloboma..Moms/ malformations: Clinical~pidem iological analysis of
Maximization of visual prognosis with amblyopia - The CHARGE Family Support Group: 1,124,654 consecutive births in Spain. J Med Genet
therapy as indicated http://wNw.chargesyndrome.org.ukl 1998;75:497-504.
Issues for Refetral -International Children's Anophthalmia and 6. Blab! KD, Prasad C. CHARGE syndrome: Rl!lliew.
Genetic counseling, especially if family history or Microphthalmia Network: http://WWN. Orphanet J Rare Dis 2006; 1:34.
genetic mutation detected: anophthalmla.org/lndex.shtml
-l't'diatric specialist consultation if systemic PROGNOSIS
abnormalities present Visual prognosis varies greatly with defect,. which ADDI110NAL READING
- Retina surgery for detachment can range from a small iris coloboma without visual
- Ocular1st referral If severe mlaophthalmla to www.genetests.org
mnsequenc:es to a largt! chorioretinal coloboma
cor6ider prosthetic shell www.chargesyndrome.org
with microphthalmia and cyst and profound visual
Additional Ther.~ples Impairment
COMPLEMENTARY & ALTERNATIVE Prognosis is worse if fovea or dysplastic optic nerve
THERAPIES is absent: . CODES
None proven or Indicated - OveraII patient prognosis also varies with any
associated sysll!mic involvement ICD9
SURGERY/OTHER PROCEDURES 743.10 Microphthalmos. unspedfled
Retinal detad1ment, ca!Bract. strabismus. COMPUCATIONS 743.49 Other congenital anomalies of ante~or
nystagmus surgeries as needed Amblyopia secondary to sensory strabismus or segment
anisometropia: 743.59 Other congenital anomalies of posterior
IN-PAnENT CONSIDERATIONS
- Retinal detachment segment
Initial Stabilization -Cataract
Inpatient care required for systemic associations only -Secondary glaucoma espedally if coexistent
microphthalmia (uncommon)
- Chorioretinal neovascularization (ocnns most
CLINICAL PEARLS
ONGOING CARE often at the superoll!mporaI edge of coloboma, May be associated with multisystem anomalies and
FOLLOW-UP RECOM MENDA110NS very rare) syndromes
Periodic dilall!d fundoscopy by an ophthalmologist Most com man intracoular malformation in
for retinal detachment): microphthalmia
- A!. needed for am blyopla monitoring and REFERENCES
Diagnosis of coloboma by an ophthalmologist
treatment 1. Porges Y, Gershoni-Baruch R, Leibu R, et al. should prompt a careful family history, ocular
- Low vision support Hereditary microphthalmia with colobomatous cyst examination of parents and siblin!JS, and sysll!mic
- A!. needed for arry systemic involvement, if present Am J Ophthalmol 1992; 114:3(}-34. evaluation of patient
Patient Monltotlng 2. Onwochel BC, Simon JW, Bateman JB, et al. Ocular A genetic evaluation is warra nll!d in aII cases with
School performance, menml and physical colobomata: Major review. Su!V Ophtha/mol multisysll!m involvement.
development: 2000;45:175-194. Patient should have an ocular and systemic
- VisuaI function and acuity follow-up twice a year.
- Development of sysll!mic signs and symptoms. The most common syndrome among patients with
especially if known syndrome coloboma is CHARGE syndrome.
179
COLOBOMA: EYEUD, IRIS, OPnC NERVE, RETINA
Hyung Cho
Assumpta Madu
Iris/optic nerve coloboma:
- Basal encephalocele
o Results from failure of the surface ectoderm to
DESCRIPTION separate from the neuroectoderm causing a HISTORY
A developmental abnormality caused by failure of defect in the skull floor with herniation of brain Patients are usually asymptomatic unless the optic
complete closure of the embryonic fissure during the tissue along the cribriform plate or the sphenoid nerve or macula are involved or if there are
fifth week of gestation bone secondary effects:
A hole in one of the structures of the eye, such as - Renal coloboma syndrome - Patients with eyelid colobomas may complain of
the eyelid, iris, retina, choroid, or optic nerve o Autosomal dominant syndrome characterized by dry eye due to exposure
Coloboma derived from Greek, meaning "curtailed" hypodysplastic kidneys and optic nerve - Patients with iris colobomas may have
or "mutilated" abnormalities photophobia
-Trisomy 13 - Blurry vision due to refractive error
EPIDEMIOLOGY o Patau syndrome: Heart and kidney defects -Visual field defects
Incidence - Sturge Weber PHYSICAL EXAM
0.5~.7 per 10,000 births o Phakomatosis associated with port-wine stain of Ophthalmoscopy usually suffices to make the
May be unilateral or bilateral with approximately the face, glaucoma, seizures, mental retardation diagnosis
equal frequency - WolfHirschhorn syndrome Iris coloboma
o Mental retardation, microcephaly, seizures, cleft -Typical inferonasal keyhole-shaped defect
RISK FACTORS
lip/palate - Lens may be flattened at the pole corresponding
Genetics - Klinefelter syndrome
Most cases are sporadic, some are autosomal to the coloboma owing to the missing zonule
o XXV, most common sex chromosome disorder.
dominant or recessive Optic nerve coloboma
small testicles and reduced fertility - Microphthalmia
Mutation in the PAX2 gene on chromosome 10 has Chorioretinal coloboma iris or optic nerve
been noted in 50% of cases. - Inferiorly decentered, white-colored excavation,
coloboma with minimal peripapillary pigmentary changes
- PAX2 gene expressed in primitive cells of the -CHARGE syndrome
kidney, ureter, eye, ear. and CNS -Nystagmus if significant visual deprivation
o Colobomas, Heart defects, choanal Atresia, - Leukocoria
GENERAL PREVENTION Retardation of Growth and Ear abnormalities -Astigmatism or myopia
Genetic Counseling -Joubert syndrome - Serous retinal detachment
o Agenesis of the cerebellar vermis leading to
PATHOPHYSIOLOGY Chorioretinal coloboma
ataxia, hyperpnea. and hypotonia -A white area (sclera) is visible in the inferior
Incomplete or abnormal coaptation of the proximal -lenz microphthalmia
end of the embryonic fissure. fundus to avariable extent depending on the size
o Microphthalmia, cataract, nystagmus. and
ofthe defect
ETIOLOGY glaucoma - Margins well defined
The iris, retina, and choroid are absent in areas - Walker-Warburg syndrome
- Rhegmatogenous retinal detachment
affected o Congenital muscular dystrophy, brain and eye
- Often a pigmented border marking the transition
Usually located inferiorly, because the embryonic abnormalities from the coloboma to the normal retina or choroid
fissure is located inferonasally in the developing eye. - Focal dermal hypoplasia
o Skin, skeletal system, eye and face abnormalities DIAGNOSTIC TESTS & INTERPRETATION
COMMONLY ASSOCIATED CONDITIONS - Aicardi syndrome Imaging
Eyelid coloboma o Absence of corpus callosum, infantile spasms, Eyelid coloboma
- Goldenhar syndrome (upper lid) distinctive chorioretinallacunae - CT scan of the orbits and skull is indicated in
o Developmental malformation of the first and - linear sebaceous nevus syndrome patients with Treacher Collins syndrome to
second branchial arches associated with o Eye, nervous system, and skin abnormalities document and assess craniofacial structures
epibu Ibar dermoids, auricular appendages, - Noonan syndrome Optic nerve coloboma
malformations of the auricle, and hemifacial o Dwarfism, congenital heart defect, impaired -Axial CT scan shows a crater-like excavation of the
microsomia blood clotting posterior globe at its junction with the optic nerve
- Treacher Collins syndrome (lower lid)
-Coronal T1 -weighted MRI confirms the intracranial
o Downward slanting eyes. micrognathia (small
lower jaw), conductive hearing loss, portion of the optic nerve is reduced in size
- CT and MRI delineates the anatomy of the skeletal
underdeveloped zygoma, drooping part of the
lateral lower eyelids, and malformed or absent defect and the associated cerebral abnormalities
ears in basal encephaloceles
180
COLOBOMA: EYEUD, IRIS, OPnC NERVE, RETINA
Diagnostic ProCIIrJu/WSIOthaT SURGERY/OTHER PROCEDURES ADDITIONAL READING

Slit-lamp examination Correct strablsm us If present
Chromosome ana lysis, especially If other organ Monitor and treat for retinal detad1ment Steah ~ LP. Retinochoroidal coloboma: varieties of
system involvement Internal drainage through the hole in the intercalaIY clinical presentations. Ann Ophthalmo/ 1990;
B-scan ultrasound to evallliltl! for posterior cyst membrane (extracolobomatous inner retinal layers 22(1):9-14.
RenaI ultrasound in syndromes with kidney that are extended centrally DVI!r coloboma) is Berk AT, Yaman A. Saatcl AO. Ocular and systemic
invoiVI!ment (CHARGE, renal mlaboma, Patau) performed and laser photocoagulation is placed flndlngs associated with opdc disc colobom as. C
around the margIns of the coloboma. J Pediw Ophlhalmo/ Strabismus. 2003;40(5):
Pathological Findings 272-278.
Optic nerve coloboma McMain K. Blake K. Smith I, et al. Ocular features of
- Intrascleral smooth musde strands oriented $ ONGOING CARE CHARGE syndrome. J AAPOS. 2008;12(5):46()-465.
concentrically around the distaI optic neiVI!
- Heterotopic adipose tissue also present within and FOLLOW-UP RECOMMENDATIONS
adjacent to some optic disc colobomas Ophthalmologist
Pediatridan/lntemist . CODES
Iris coloboma PATIENT EDUCATION lCDI
- Ectopia lentis et pupillae http:llwwN.mlb.org.ukleyehealth/eyecondltlonsl 377.23 Coloboma of optic disc
-lrtdommeal endothelium syndrome (ICE) cond ltlonsacJPagesfcoloboma.aspx 743.46 Other specified congenital anomalies of iris
-Traumatic iris tear and ciliary body
-Anl~dla
PROGNOSIS
Mild or .severe depending on the extent and location 743.62 Congen ItaI defoiTnldes of eyelids
Optic nerve coloboma of the gap or deft
- Morning glory disc
-Glaucomatous cupping Excellent visual prognosis If Isolated l~s coloboma
In optic nerve colobomas. lltsual arulty may be CLINICAL PEARLS
- Optic nerve pit or staphyloma
- Ante~or segment dysgenesis mildly to severely decreased, and is difficult to Colobomas arise from a defect in the dosure of the
- Retl nopathy of prematu~ty (ROP) predict from the appeara nee of the disc. embryanic fissure during the frfth week of gestation.
- Coats disease COMPUCATIONS VISual potential depends on the extent of the retinal,
- Retinoblastoma Amblyopia optic nerve, and other organ systems involved.
ChorioretinaI coloboma Refractive error Association between coloboma, heart defects,
- Chorioretinal scar (e.g., ocular toxoplasmosis) Glaucoma choanal atresia. mental retardation, and
- Degenerative myopia Retinal detachment genitourinary or ear anomalies (CHARGE).
-Trauma There are no medical or surgical treatments for
Choroidal neovascularization
colobomas
. TREATMENT
General Measures
There are no medical or surgicaI treatments for
colobomas
Iris coloboma
- Cosmetic contact lenses and sunglasses
- Fully COITect refractive eiTor in both eyes with
glasses if lenticular astigmatism
Optic nerve coloboma
- ScleraI shell or orbital expander if miaophthalmic
- Amblyopia may be treated with patr:hl ng
ChorloretlnaI coloboma
-No treatment is necessary unless retinal
detachment or dloroidal neovasaJiarization occurs
181
COMMOTIO RmNAE [BERLIN'S EDEMA]
J. Luigi Borrillo
Disruption of outer retina with shearing of
photoreceptors due to coup and countercoup forces.
~ DIAGNOSIS
DESCRIPTION Ophthalmic features of commotion retinae
Contusive injury resulting in confluent areas of
ETIOLOGY include:
opacified, whitened retina. Blunt ocular trauma. -Opacified, whitish minimally edematous retina
COMMONLY ASSOCIATED CONDITIONS - Undisturbed retinal vessels
EPIDEMIOLOGY
Subconjunctival hemorrhage - Sometimes associated with sparse retinal
Incidence hemorrhages or pre-retinal bleeding
Eyelid ecchymosis
Blunt ocular trauma annually affects approximately -Variable visual acuity (20/20 - 20/400) depending
4.9 per 1,000 individuals. Hyphema
Traumatic iritis on affected area
Prevalence Angle recession HISTORY
Sports-related injury tends to affect younger male Blunt ocular trauma.
patients Orbital fracture
May affect individuals performing household Choroidal rupture PHYSICAL EXAM
projects or work-related activity Traumatic macular hole Complete ophthalmic examination
-Dilated fundus examination with scleral
RISK FACTORS depression
Activities that carry potential for eye trauma such as
high impact or contact sports.
GENERAL PREVENTION
Use of protective eyewear that meets American
National Standards Institute (ANSI) Z87.1 safety
standard for work-related activities
Use of protective sport specific eyewear that meet
American Society for Testing and Materials (ASTM)
standards
182
COMMOTIO REnNAE (BERLIN'S EDEMA)
DIAGNOSTIC TESTS & INTERPRETATION ADDITIONAL READING

Diegnostk Ptocedures/Other ONGOING CARE Meyer CH, Rod~gues EB, Mennel s. AoJte commotio
I
Color fundus photDgraphy
FOLLOW-UP RECOMMENDATIONS retinae detenmined by cross-sectional optical
o Optical coherence tomogram (OCl) may
Ophthalmologist evaluation in 1-2 weeks. mherence tomography. Euf J Ophthalmo/
demonstrate hyper-reflective lesion representing
2003;13(9-10):816-818.
disruption at level of photoreceptOrs and retinal PATIENT EDUCAllON
pigment epithelium if affecting macula_ Patients instructed to call immediately with Gass JD. Stereoscopic Atlas of Marular Diseases
Diagnosis and Treatment1 997:739-74L
Pathological Findings signsfsym ptoms of retinal tear and/or retina I
detachment. Sony P, Venkatesh P, Gadaginamath S, et al. Optical
Photoreceptor outer segments demonstrate shearing coherence tomography findings in commotio retina.
injury or fragmentation on electron microscopy. PROGNOSIS Gin Experiment Ophtha/mo/2006;34{6):621~23.
DIFFERENTlAL DIAGNOSIS Favorable. Usually resolves without sequela.
White without pressure COMPLICATIONS
o Shallow retinal detad1 men! Retinal tear and/or detachment . CODES
Branch/central retinal artery occlusion Possible penmanent visual loss
rJ TREATMENT
Marular hole development ICD9
921.3 Contusion of eyeball
CLINICAL PEARLS
GerNm~l MNSUifi
Observation. Condition usually resolves without Whitened retina due to blunt trauma
intervention. Resolves without treatment
May be associated with visual loss
SURGERY/OT11ER PROCEDURES
Not indicated.
183
CONE DYSTROPHY
Jared D. Peterson
Julie Rosenthal
~ BASICS
PATHOPHYSIOLOGY PHYSICAL EXAM
Cone degeneration is thought to be the primary Funduscopic examination
event. Subjective visual loss, and decreased visual - May be normal in many cases as cone dysfunction
DESCRIPTION acuity occur before any ophthalmoscopic changes occurs before any ophthalmoscopic changes can
A progressive degeneration that results in the triad can be seen. be seen
of central vision loss, photophobia, and There are 3 major subtypes of cones. all of which are - Quite variable, ranging from subtle macular
dyschromatopsia (color vision problems) due to the affected, therefore color defects will be present granularity to awell-demarcated, circular,
selective degeneration of cones. along all color axes, sometimes progressing to depigmented area of macular atrophy (bull's-eye
Cone dystrophy is a heterogeneous disorder both in complete color vision loss over time. maculopathy)
clinical features and in underlying molecular Varying degrees of rod degeneration can occur over - Optic discs may have temporal pallor
genetics. The spectrum of cone disorders can be time in some patients. Visual acuity can range from 20/20 to counting
categorized as: (1) fingers
- cone Dysfunction Syndromes that present ETIOLOGY
Color vision testing with the Hardy-Rand-Rittler
shortly after birth or during infancy and are Several affected genes and their chromosomal loci
plates and/or the Farnsworth-Munsell 100-Hue test
stationary (non-progressive). Achromatopsia have been identified, including COD2 (Xq27). RCD1
will reveal varying degrees of abnormality
occurs in 1:30,000, and these infants present with (6a25-q26), RCD2 (17p12-p13), GUCA1 A, RPGR,
photophobia, poor vision, and pendular CNGA3, and CNGB3 (1). DIAGNOSTIC TESTS & INTERPRETATION
nystagmus. COMMONLY ASSOCIATED CONDITIONS Imaging
- Cone dystrophies can present anytime during There are several inherited systemic conditions that Initial approach
childhood to early adulthood and are have cone-rod dystrophy as a component Electroretinogram (ERG)
progressive. - Neurofibromatosis I - One of the most important diagnostic tests, as
o cone-Rod Dystrophies" involve both the rods -Amelogenesis deficits on the ERG occur before changes on
and cones at an early age, which results in both - Spinocerebellar Ataxia type 7 ophthalmoscopy are noted
central vision problems as well as poor night - Pierre-Marie Ataxia -Patients should undergo full-field and multifocal
vision. - Trichomegaly ERG
o Cone Dystrophy" refers to conditions in which - Bardet-Biedl Syndrome -The characteristic finding is markedly abnormal
the cones are primarily affected. (Of note. many -AI strom Syndrome photopic (cone) responses with normal to slightly
of these patients also have rod dysfunction. but abnormal scotopic (rod) responses
- Selective diminution of the photopic 'B' wave
~ DIAGNOSIS
this is less prominent.)
along with decreased amplitude of the 30 Hz
EPIDEMIOLOGY flicker may be seen
Prevalence HISTORY Optical Coherence Tomography (ocn may show
1/40,000 Cone dystrophy causes photophobia, loss of visual transverse photoreceptor loss with disruption/focal
acuity, and color vision abnormalities loss of the inner segment-outer segment junction
RISK FACTORS
Family history of cone dystrophy. Symptoms typically occur before age 20 years Fundus autofluorescence shows foveolar
Color vision problems are usually noted early in the hyper-autofluorescence as a nonspecific
Genetics course of the disease, in contrast to other macular manifestation in some patients (2)
Most cases of cone dystrophy are sporadic, but dystrophies
autosomal dominant, autosomal recessive, and Fluorescein angiography can demonstrate early
Earlier onset of symptoms is associated with more hyperfluorescence
X-linked recessive inheritance patterns have been
severe disease Visual field testing may show full peripheral fileds,
reported. Autosomal dominant is the most common
inherited form. Nyctalopia in the setting of photophobia and visual but often have bilateral central scotomas
acuity/color vision loss points more toward a Follow-up & special considerations
Cone-Rod Dystrophy Of note, a study of a large family with AD cone
dystrophy found that no single test or finding was
adequate to make the diagnosis. Thus, a constellation
of history, physical examination. and diagnostic tests
should be used, especially in more mildly affected
individuals (3).
184
CONE DmROPHY
Patholog/GIJ Findings 5. Parle. WL, Sunness JS. Red contact lenses for
There are few studies In the ltter.rl1Jre. ONGOING CARE alleviation of photophobia In patients with cone
-One study of a 69-year-old male with Xlinked disorders. Am J Ophtha/mo/ 2004; 137:774-75.
cone-rod dystrophy due ID a muti!lion in RPG R FOLLOW-UP RECOMMENDATIONS 6. Parameswaran S, Balasubramanian S, Babai N,
showed focally absent RPE in the macuIa with the Patients should be followed periodically to monitor et al.lnduced pluripotent stem cells generate both
remaining RPE showing abnormal pigmentation changes In vision, color vision, and rod function retinal ganglion cells and photoreceptOrs:
(h)llll" or hyper). Cones and rods were absent in
the perifovea, whereas the remaining retina
(ERG).
Refer for low vision services as indicated.
Therapeutic impiiti!lians in degenerative changes in C
glaucoma and age-related macular degeneration.
showed some cone loss but near-normaI rod PATIENT EDUCATION Stem Cells 2010;28(4):695-703.
numbers. All phOIDreceptOrs had shortened outer Genetic counseling on the suspected mode of 7. Maclaren RE, Pearson RA, MacNeil A. et al. Retinal
segments (4). inheritance. if any, can be helpful to patients in repair by transplantation of photorecepiDr
DIFFEREN11AL DIAGNOSIS providing knowled!Je of the likelihood that other precursors. Nature 2006;444: 203-{)7.
Includes Stargardt's Disease, hereditary optic family members may be affected
atrophies, and toxic maculopathy
Must differentiate from tonerod dystrophies, which
PROGNOSIS ADDITIONAL READING
variable. Some patients will expe~ence severe vision
present with similar symptOms, but also has severe loss. Midhaelides M, Hunt DM, Moore AT. The cone
rod dysfunction (nyctalopia) dysfunction syndromes. Br J Ophthalmo/ 2004;88:
Earlier onset of symptoms portends a more severe
rl TREATMENT
manifestation of the disease.
The later the onset of symptoms, the better the
prognosis.
.
291-97.
CODES
COMPLICATIONS
GeDMal Measu,.s Blindness, loss of color vision. ICD9
Red contact lenses have been shown to allmate. In 362.75 Other dystrophies primarily involving the
one study, 23 out of 23 subjects showed immediate sensory retina
resolution of light aversion and experienced dramatic REFERENCES
improvement in visual function (5). 368.13 Visual discomfort
1. Michaelides M, Hardcastle A, Hunt OM, et al. 368.41 Scotoma Involving central area
lssws for Refwral Progressive cone and cone-rod dystrophies:
Patil!llts may benl!ftt from reh!rralto a low vision Phenotypes and underlying molecular genetic
specialist basis. SurvOphthaJmo/ 2006;51(3):232-58. CLINICAL PEARLS
As vision dedines. patients may have to cope with 2. Wang NK. Chou CL. Lima LH, et al. Fundus
multiple sodal difficulties, which may indude loss of autofluorescence in cone dystrophy. Doc Consider this diagnosis in patients with deaeased
employment. loss of independence. depression, and Ophthalmoi 2009;119(2):141-44. 'visual acuity w1th seemingly normal retinal exams.
so on. Patients may beneflt from referral to 3. Small rYI, Gehrs K. Clinical study of a large family Unlike what the name implies, color vision is not
appropriate professionaIs to enable them ID better with autosomal domlnam progressive cone usually the presenting compliant of these patients.
cope with these issues. degeneration. Am 1 Ophthalmo/ 19!16;121 :1-12. Symptoms usually begin before age 20 years and
Addition/ Therapifls 4. Demirci FY, Gupta N, RadakAL, et al. include phOIDphobia, decreased visuaI acuity, and
Stem cell therapy Histopathologic study of Xllnked cone-rod impaired color vision.
- Parameswaran et al. (6) recently sua::essfully dystrophy (CORDXI) caused by a mutation in the Presence of poor night vision (nyctalopia) In addition
programmed differentiated mouse fibroblast cells RPG Rexon ORF15. Am 1 Ophthalmol 2005;139(2): to the above should prompt consideration of a
to a pluripotent state from which they were 386-88. combined con~rod disorder.
successfully reprogrammed using different ERG is the most important diagnostic test as it
developmental cues into cones. ganglion cells. shows selective defects in the cone system with
and rods. normal (or on~ slightly abnormaO rod system
PhOIDreceptor transplantation defects.
- Replacement of defective phoiDrecepiDr cells
through transplantation of developing
photoreceptors has restored 'lision in blind
mice (7).
185
CONGENITAL AND INFANTILE GlAUCOMA
Daniel T. Weaver
Alex V. Levin
~ BASICS
ETIOLOGY Diagnostic Procedures/Other
May result from genetic or teratogenic interference Visual field (once the child is old enough to
with neural crest cell formation, migration, and final complete this test reliably; the age will vary
DESCRIPTION differentiation during fetal development. depending on the child)
Trabeculodysgenesis with aqueous outflow
COMMONLY ASSOCIATED CONDITIONS Pathological Findings
obstruction resulting in increased intraocular
Congenital glaucoma may be associated with many Haab's striae: Breaks in Descemet's membrane
pressure detected at birth or by age 3--4 years
systemic syndromes including Sturge-Weber Variable amounts of goniodysgenesis including
Differentiated from secondary forms of childhood
syndrome, Lowe syndrome, congenital rubella, collagenous tissue in the trabecular meshwork or
glaucoma that may be associated with: Persistent
Kniest skeletal dysplasia, Robinow syndrome, and juxtacanalicular tissue, mucopolysaccharides in the
fetal vasculature, Peters anomaly, Axenfeld-Rieger
others as well as with chromosomal abnormalities. juxtacanalicular tissue, +1- absence of Schlemm's
spectrum, aniridia, retinopathy of prematurity,
canal (3)]C]
~ DIAGNOSIS
Marfan syndrome, and microspherophakia.
Optic cupping with posterior bowing of the lamina
Differentiated from acquired forms of pediatric
cribosa.
glaucoma, such as aphakic or pseudophakic
glaucoma, infectious, uveitic, or trauma-related HISTORY DIFFERENTIAL DIAGNOSIS
glaucoma. Classic triad: Differential of tearing:
Unilateral (25%) or bilateral (75%) -Epiphora - Nasolacrimal duct obstruction
- Photophobia - Conjunctivitis
EPIDEMIOLOGY - Blepharospasm - Corneal epithelial defect
Incidence Large or asymmetric eyes -Uveitis
Variable depending on country Iris heterochromia may be present -Trichiasis or foreign body
In some Middle Eastern countries: 1 per 4 to 10,000 Cloudy cornea(s) - Blepharitis
In the US, 0.38 per 100,000 (1)[C] Rapid myopic shift Differential of Haab's striae:
Prevalence - Birth trauma (forceps injury)
PHYSICAL EXAM
In the US, 1.46 per 100,000 (1)[C] - Covert or overt trauma
Exam under anesthesia or sedation may be needed
-Syphilis
RISK FACTORS to detect the following signs:
- Descemet folds
3:2 Males: Females - Long axial length by A-scan
- Large corneal diameter (> 12 mm for full term Differential of corneal clouding:
Family history - Congenital hereditary endothelial or stromal
infants)
Genetics -Hand held slit-lamp examination may reveal corneal dystrophy
10% are autosomal recessive with variable cloudy corneas or Haab's striae (breaks in -Keratitis
penetrance and expressivity; autosomal dam inant Descemet's membrane, usually horizontal) - Metabolic disorders
forms are less common. -Infection
- Cycloplegic streak retinoscopy may be useful in
Four loci have been identified (2)[C]: detecting progressive myopia or rapid loss of - Peters anomaly
- GLC3A (2p21), due to mutations in the hyperopia - Sclerocornea
cytochrome P450, family 1, subfamily B, -Tonometry should be obtained at anesthesia Differential of enlarged cornea:
polypeptide 1 (CYP1 B1) gene induction with the Tonopen or Perkins tonometer. - X-linked recessive megalocornea
- GLC3B (1 p36), gene not yet identified Normal infant lOP is 10--15 mm Hg; lOP in - Phakomatoses
- GLC3C (1 4q24.3), gene not yet identified congenital glaucoma typically 25-35 mm Hg Differential of buphthalmos:
- GLC3D, due to mutations in the latent -Gonioscopy may reveal an anterior iris insertion - Exorbitism
transforming growth factor binding protein 2 and indistinct trabecular meshwork. -High myopia
(LTBP2) gene - Ophthalmoscopy will reveal optic nerve cupping, Differential of optic neiVe cupping:
- Digenic with mutations in CYP1 B1 and which is usually concentric with healthy - Physiologic cupping
FKH L7/FOXC 1/forkhead transcription factor surrounding disc tissue until late stages (sloping, - Optic nerve pit
Mutations in the myocillin (MYOC) gene have been notching, and hemorrhage are uncommon). May - Optic nerve coloboma
identified in some cases of infantile glaucoma be reversible.
(autosomal dominant) In the office, assess the following:
Other loci are thought to exist but have not yet been -Visual acuity
characterized (2)[C] - Pupils (assess for afferent pupillary defect)
GENERAL PREVENTION ALERT
No known modes of prevention, other than genetic Beware of falsely high (hypercarbia, speculum,
counseling. Prenatal testing only available if pressure from anesthetic mask, 2-5 minutes after
mutation known.
intubation, ketamine) or falsely low (corneal
PATHOPHYSIOLOGY epithelial edema, halothane, hypocarbia) lOP
There are several theories of pathogenesis:
- Barkan's membrane covering the trabecular DIAGNOSTIC TESTS & INTERPRETATION
meshwork (may not be true) Imaging
-Anterior insertion of the ciliary body (due to arrest Optic disc photos
in the normal migration of the uvea) may
Consider hand held optical coherence tomography
contribute to narrowing or collapse of Schlemm's (ocn
canal
-Absent Schlemm's canal
-Anomalous trabecular meshwork development
(neural crestopathy)
186
CONGENITAL AND INFANnLE GLAUCOMA
REFERENCES
1. Aponte EP, Diehl N, Mohney BG. Incidence and
MEDICATION FOLLOW-UP RECOMMENDATIONS clinical characteristics of child hood glaucoma: A
o All patients require lifelong follow up. population based study. Arch Ophtha/mo/
FirstUne
Medic.ations can be used as a temporizing measure Patients should be monitored closely during the first 201 0;128:478-482.
o
ID lower the intraocular pressure and clear the 4-6 weeks pos!Dperatiwely to moniiDr for corneal
dearing, reversa I of optic nerve cupping, and lOP
2. Naroole-Nejad M, Ch ltsazlan F, KhoramIan Tusl B, C
cornea p~or to proceeding with angle surgery and et al. Genotyping results of lr.~nian PCG families
may also be used as adjunctive treatment following reduction. suggests one or more PCG lod other than GCL3A,
su rgic.al management. During the first few years of life, office visits and GCL3B, and GLC3C exist. Mol VIs 2009;15:
o Topical beta-blotla!rs (e.g., timolol 0.25%, exams under anesthesia should be completed every 2155-2161.
levobunolol 0.25%, betaxolol) 3-4 months depending on dlsease severity. 3. Hollander DA, Sarfarazi M, Soilow I, et al. Genotype
o Topic.al carbooic anhydrase inhibi!Drs (e.g., Remember awake examinations ID screen for and p~enotype correlations in congenital
dorzolamide, brinzolamide) amblyopia. glaucoma: CYP1 81 mutations, gonlodysgenesls,
and clinic.al characteristics. Am 1 Ophtha/mo/
o Prostaglandin analogues (e.g., latanoprost, PATlENT MONITORING 2006;142:993-1 004.
travoprost, and bimatoprost) Repeat examination under anesthesia every 3
months for the first year of life periodic.ally including 4. Tanimoto SA. Brandt JD. Options In pediatric
ALERT measurements and imaging to assess disease glaucoma after angle surgery has failed. Cutr Opin
Use of alpharagonists (e.g., iopidine, brimonidine) Ophthalmo/ 2006; 17:t 32-13 7.
control.
in children < 1 year of age is not recommended due o Regular reexamination during early childhood
5. Blglan AW. Glaucoma In children: Are we making
to potential central neMlus system depression. induding measurements and imaging should be progress? JAAPOS 2006;10:7-21.
SecondUne completed to assess disease (ontrol.

o OraI carbonic anhydrase inhibi!Drs (e.g., Visual fields should be repeated at least annually ADDITIONAL READING
acetazolamide 15-30 mg/kg per day, divided into once reliable tests can be obtai ned.
3-4 doses) Papdopoulos M, Khaw PT. Advances In the
PATlENT EDUCATION management of paediatric glaucoma. Eye
ADDITIONAL 111EATMENT The Pediatric Glaucoma and Cataract Family 2007;21:1319-1325.
Assodation www.pgda.org
General MHsutes
o Spectacles for refractive error o American Association for Pediatric Ophthalmology
and Strabismus www.aapos.org
o Treat am bylopia and strabismus . CODES
o Tinted (or transition) lenses may help with PROGNOSIS
photophobia The prognosis Is variable dependlng on age at ICD9
presentation and timing of surgery. The prognosis 365.14 Glaucoma of childhood
ALERT for congen itaI glaucoma is worse than the infantile o 743.20 Glaucoma of childhood
Amblyopia Is the most common cause of visual loss presentation. 743.22 Buphthalmos associated with other ocular
in rongenitallinfantile glaucoma. Correction of Patients who undergo angle surgery between 2-12 anomalies
refractive error (especially astigmatism and months of age tend ID achieve better lOP control
anisometropia) Is attlcalln preventing the than those who undergo surgery before or after this
development of amblyopia. Frequent cycloplegic age range. CLINICAL PEARLS
refraction (q H months) is often necessary with o Intraocular pressure control can be achieved in
rapid lOP changes. approximately 80'!1. of cases, induding those on Buphthalmos. corneal douding, blepharospasm,
medications. epiphora, and photophobia occurring in the first 3-4
Issues for Refwraf 40% of affected patients may maintain a visual years of life should alert the clinidan to the potentiaI
o Consider a genetics consultation for counseling. awity of 20/40 or better (5)[C] diagnosis of congenital/infantile glaucoma.
molea.ilar testing, and identification of systemic Rapid myopic shift or asymmetric myopia in the
syndromes. COMPLICATIONS infant and young child should lead the examiner ID
Consider a low vision referral if indicated. Glaucomatous visual field loss consider the diagnosis of congenital glaucoma.
Deaeased visual acuity Amblyopia is the most common c.ause of visual loss.
SURGERY/OTHER PROCEDURES o Blindness
Procedures of choice: o Definitive management is surgical.
o Anisometropia
- Goniotomy is the mainstay of initial surgical
o Astigmatism
treatment. Approximately 80% of children are
cured with goniotomy. Myopia
- Trabeculotomy +1- trabeculectomy Is an Amblyopia
alternative in the setting of a doudy cornea and is Cataract
preferred as the iniliaI choice by some surgeons. Corneal scarring
If angle surgery falls: (4)[B) Phthisis bulbi
-Tube shunt Intractable pain
- Trabeculectomy+l-Mitornycin-C (lifelong risks
must be considered)
- Transderal or endoscopic cyclophotocoagulation
in advanced c.ases that have failed medical and
surgicaI treatment.
187
CONGENITAL AND PEDIATRIC CATARACTS
Harold P. Koller
Christopher M. Fecarotta
~ BASICS
Depends on the cause, but generally involves a loss of Visual assessment of each eye individually
lens clarity in a specific region of the lens based on the Cycloplegic refraction
DESCRIPTION time of intrauterine insult or the specific mutated Slit-lamp biomicroscopy
Any opacity of the crystalline lens is called a cataract gene. Determination of the cataract's visual significance by
Can be congenital or developmental quality of retinoscopy reflex, fundus view, and when
ETIOLOGY
Isolated or associated with anterior ocular segment Most commonly idiopathic possible, visual acuity
dysgenesis Examination of the optic nerve and retina
Most common known cause is genetic and many
With or without systemic disease isolated otherwise idiopathic cataracts may prove If unable to visualize the retina, B-scan
Multitude of morphology including anterior polar, later to be heritable ultrasonography is necessary to rule out persistent
lamellar, nuclear, posterior lenticonus, persistent Other etiologies: Chronic corticosteroid use, genetic fetal vasculature, retinal detachment, and
fetal circulation with vascularized plaque, anterior syndromes. metabolic disorders, and intrauterine retinoblastoma
lenticonus, pulverulent. cerulean, sutural, total, and infections are the most common The size, location, density, and visual acuity are all
others considered in determination of therapy
- Known cause or inherited in approximately COMMONLY ASSOCIATED CONDITIONS
6Q--70% of cases Intrauterine infection DIAGNOSTIC TESTS & INTERPRETATION
- Rubella, varicella, toxoplasmosis, herpes simplex, Lab
EPIDEMIOLOGY bacterial, or fungal endophthalmitis, Initial lab tests
lnddence cytomegalovirus. TORCH titers in bilateral congenital cases with
In the US, the incidence is estimated to be 1.2-6 cases Metabolic disorders systemic indicators
per 10,000. - Galactosemia, hypocalcemia, hypoglycemia, Consider galactokinase levels to rule out
RISK FACTORS diabetes mellitus, mannosidosis, hyperferritinemia galactosemia in bilateral cases
Intrauterine infections Chromosomal Other tests as suggested by systemic or ocular
Metabolic conditions -Trisomy 21, Turner syndrome, trisomy 13, trisomy examination
Family history 18, Cri du chat syndrome and many others Follow-up 1ft special considerations
Trauma including birth trauma Renal disease Referral to geneticist if a systemic syndrome is
Some genetic syndromes - lowe syndrome, Alport syndrome, suspected
Hallermann-Streiff-Francois syndrome
Steroids DIFFERENTIAL DIAGNOSIS
Drug induced
Uveitis Leukokoria
- Corticosteroids, chlorpromazine
Genetia - Retinoblastoma, toxocariasis, Coats disease,
Other
The most common mode of transmission is persistent fetal vasculature, retinal astrocytoma,
-Microphthalmia, aniridia, retinitis pigmentosa,
autosomal dominant with variable penetrance. retinochoroidal coloboma, retinal detachment,
persistent fetal vasculature. retinopathy of
Multiple genes are identified that, when mutated, myelinated nerve fibers, uveitis, incontinentia
prematurity, endophthalmitis
can result in cataracts. Multiple additional loci are pigmenti, toxoplasmosis
~ DIAGNOSIS
known without mapped genes.
Can also be autosomal recessive or X-linked
recessive HISTORY
GENERAL PREVENTION History of parents seeing an abnormal pupillary
Maternal vaccination can prevent certain infections reflex (leukokoria) directly or in a photograph
that cause cataracts in newborns, but otherwise History of condition known to be associated with
prevention is limited. pediatric cataracts
Prenatal ultrasound is unreliable. Strabismus
Genetic testing not currently useful due to large Nystagmus
number of possible genes but genetic counseling Cataract alone does not cause an afferent pupillary
may be helpful in family planning. defect.
Prevention of visual loss by early identification. All
children born to a parent with known heritable
cataract should be examined by an eye doctor in the
first 2 days of life and followed serially thereafter.
188
CONGENITAL AND PEDIATRIC CATARACTS
Paries MM, Johnson DA. Reed GW. Longterm visual

. TREATMENT ONGOING CARE results and complications In ch lldren with aphaIda.
A function of cata iclct type. Ophthalmology
MEDICATION FOLLOW-UP RECOMMENDATIONS 1993;100(6):826-84(); disc p 8-W-1.
If the cataract is centJal but less than 3 mm, Amblyopia therapy is carried out in the standard Awner S, Buckley EG, DeVaro JM, et al. Unilateral
occlusion therapy over the opposite eye combined manner depending on the density of visual loss. pseudophakia in children under 4 years. 1 Pediatr C
Ylith mydriatic drops (2.5% phenylephrine) can be PATIENT EDUCAT10N OphthalmoJ Str.Jbismus 1996;33(4):23o-236.
an effective therapy. The Pedlat~c Glaucoma and Cataract Family Huang Y, DalY, WU X. et al. TOldc anterior segment
A unilateral punctuatl! cataract often requires Association: tmp:/M'Nw.pgcfa.org. syndrome after pediatric cataract surgery. 1AAPOS
careful monitoring only. 201 0;14(5):444-446.
PROGNOSIS
ADDIT10NAL TREATMENT Depends on the presence of roncomitant ocular
General Measures disease, age of onset, length of time of visual axis
If systemic disease is uncovered, referral to the occlusion, and density of amblyopia. . . CODES
appropriate pediatric subspecialist should be made.
COMPUCATlONS ICD9
Referral to genelidst if a systemit syndrome is Most common romplications are posterior
suspected 366.00 Nonsenile cataract, unspecified
capsule/anterior vitJeous face opadfitation and 743.30 CongenItaI cataract. unspedfled
Postoperative refractive correction and occlusion aphaticlpseudophakic glaucoma.
therapy are essential for visual rehabilitation. 743.39 Other congenital cataract and lens
Other complications lndude hyphema, l~s anomalies
SURGERY/OTHER PROCEDURES Incarceration In the Incision, pupillary distortion,
Larger, denser cenlr.!l cataracts that are more vitreous hemorrhage, retinal hemorrhages. retinal
visually signifiCant require surgery detachment, intraocular lens subluxation, and CLINICAL PEARLS
Pediatric cataracts are usually removed using endophthalmitis..
mechanical a5piration tedlniques rather than Later complications induding aphakic or Congenital and pediatric cataracts can be caused by
phacoemulsification. pseudophaklc glaucoma can a~se years later In up ocular developmental dysgenesis. intJauterine
Primary posterior capsulotomy and anterior to 30% of cases. Highest risk if microphti1almia, infections, metabolic syndromes, gene mutation, or
vitJectomy are indicated in any child not old enough nudear cataract or persistent fetal circulation. as part of a muttlsystem syndrome.
to perform postoperative YAG laser. Average time of onset is 8 years postoperatively. Work-up for systemic disease or referral to a
Placing the IOL in ti1e capsular bag is best, but if that Minimum annuaI lOP measurementeven if pediatric genetics speda list should be ronsidered as
is not possible then sulcus fixation is acceptable. sedation/anesthesia required suggested by ocular and systemic evaluation.
Use of intJaocular lens implants in children under TOldc anterior segment syndrome (TASS) causing Determination of a cataract being visually significant
1-2 years of age is rontroversial. postoperative romeal edema must be prevented determines necessity for and method of treatment
Contact lenses (usually silirone elastomer and rigid with careful instJument and solution sterilization. Alter cataract surgery, patients should be followed
gas permeable lenses) or glasses In un!lateral or closely for development of amblyopia, glaucoma,
bilateral cases are acceptable alternatives to IOL and other romplications..
implantation. Contact lens is the standard of care
ADDITIONAL READING
for children < 1 year old. Taylor D, Hoyt CS.I'I!diatric ophthalmology and
strabismus, 3rd ed. Philadelphia, PA: Elsevier
Limited, 2005:441-457.
Wright KW. Lens abnormalities: Chapter 27 in
pediatric ophthalmology and strabismus. In: Wright
rYI, Spiegel PH (eds), 2nd ed. New York: Springer-
Verlag, 2003:45G-480.
Tesser RA. Hess DB, Buckly EG. Pedlat~c cataracts
and lens anomalies, Chapter 131n Harley's Pediatric
Ophthalmology. In: Nelson LB, Olitsky SE (eds), 5111
ed. Philadelphia: Uppinrott Williams ll Wilkins,
2005:255-284.
189
CONGENITAL HYPERPIGMENTED ABNORMAUTIES OF THE FUNDUS
Ahmara V. Gibbons
Alex V. Levin
GENERAL PREVENTION
Genetic counseling (1 ,3) [B,C]
DESCRIPTION PATHOPHYSIOLOGY HISTORY
Congenital hyperpigmented lesions ofthe fundus Hyperpigmentation arises either from the History of prenatal infections (2)[C]
are differentiated based on appearance, pattern, neuroectodermal derived RPE or from melanocytes Family history of colon cancer, NF2
and distribution in the ocular fundus and are present (neural crest) in the choroid History of sarcomas, neurofibromas (1 ,2)[B,C]
at birth. -Grouped pigmentation, CHRPE, and combined
History about seizures. learning disabilities, and
Includes: Grouped pigmentation (bear tracks), hamartoma arise from RPE mental retardation
congenital hypertrophy of retinal pigmented - Choroidal nevi arise from melanocytes in the
epithelium (CH RPE), combined hamartoma ofthe choroid For chorioretinal scars inquire about maternal
- Melanocytoma is a benign optic nerve tumor of history of ingestion of contaminated raw or
retina, choroidal nevi, melanocytoma, chorioretinal
scar (usually associated with hypopigmentation) melanocytes with abundant melanin undercooked beef, lamb, or pork, blood transfusions,
Migration and distribution of pigment containing organ transplants. or exposure to cats.
EPIDEMIOLOGY cells may be dysfunctional during fetal development
Grouped pigmentation: 1.2/100 (3)[C]
PHYSICAL EXAM
Pigment-containing cells may be altered genetically Full ocular examination including visual acuity, visual
Congenital hypertrophy of Retinal pigmented and by systemic and external stimuli (e.g., trauma,
epithelium (CH RPE): 5 per 1,000 (3)[C] field testing (if age permits), and dilated funduscopic
infection) exam (3,4)[C,B].
Combined hamartoma of the retina: Precise
frequency in the general population is unknown ETIOLOGY DIAGNOSTIC TESTS lr INTERPRETATION
(3)[C] Mutated or abnormal genes (1 ,3)[B,C] Lab
Choroidal nevi: 10-13 per 100 (4)[8[ Initial lab tests
lnHammatory/infectious conditions causing None indicated
Melanocytoma: Frequency in population is generally
chorioretinal scar
unknown (4)[8] Follow-up i special considerations
Idiopathic
Chorioretinal scar due to in utero toxoplasmosis: 1 Genetic consult if genetic syndrome (2)[C]
in 10,000 live births (3)[C] COMMONLY ASSOCIATED CONDITIONS Choroidal nevi and melanocytoma require serial
CH RPE: Gardner Syndrome and Turcot Syndrome follow-ups (4)[8] and photo imaging for risk of
RISK FACTORS (adenomatous polyposis coli, tumors of the brain
CH RPE: Family history of Gardner syndrome malignant potential or advancement of disease.
and spinal cord)
(adenomatous polyposis coli) Combined hamartoma of the retina and RPE is Colonoscopy beginning at the age of 8 years if
Combined hamartoma of the retina and RPE: Family associated with iris hamartoma: Manifestations of Gardner syndrome
history of neurofibromatosis 2 NF2 include acoustic neuromas, meningiomas of the Serial audiology if NF2
Genetics optic nerve, and presenile posterior polar cataracts. Imaging
CH RPE lesions associated with mutations in the Melanocytomas can be associated with iris Initial approach
adenosis polyposis coli gene (APC. 5q21. autosomal melanocytomas, pupillary disfunction and If combined hamartoma associated with NF2, MRl
dominant) if bilateral or >2 in one eye corectopia, and secondary glaucoma (from of brain
Combined hamartoma ofthe retina and RPE is spontaneous necrosis with the resultant pigment - B-Scan and OCT may be used to evaluate
associated with mutations in the gene for NF2 dispersion) (1, 5)[B,C] hyperpigmented lesions
(22q12.2, autosomal dominant} Chorioretinal scar can be a manifestation of Diagnostic Procedures/Other
intrauterine infection, which may also affect central Molecular genetic testing as appropriate and available
nervous system (2)[C[.
190
CONGENITAL HYPERPIGMENTEO ABNORMAliTIES OF TilE FUNDUS
REFERENCES
. TREATMENT . CODES
1. Ellis FD. Selected pigmented fundus lesions of
MEDICATION children. JAAPOS 2005;9(4):306-314. ICD9
None 2. lee DA. Higginbotham EJ. Clinical guide to 224.0 Benign neoplasm of eyeball, except
comprehensive ophthalmology. New York: Thieme conjunctiva, cornea, retina, and choroid
I
New York. 1999:478-485. 224.6 Benign neoplasm of choroid
General Measures 3. Taylor D. Paediatric ophthalmology. Oxford: 361.30 Retinal defect. unspedfied
Amblyopia ltlerapy as indicated (1 )[B) Bladc.well Science Ltd, 1990:122-143, 153-154,
Issues for Refeml 587-598, 61H20.
If Gardner syndrome suspected: Gastroenterology 4. Shields CL. Furuta M, Mashayekhi A. et al. Clinical CLINICAL PEARLS
(2)[C] spectrum of choroidaI nevi based en age at
If NF2 suspected: O!Dminolaryngology and presentation in 342 2 mnsecutM! eyes. If bilateral or multiple unilateral CHRPE, mnsider
Neurosurgery (2)[C) Ophthamo/ogy 2008;115(3):546.e2-552.e2. Gardner syndrome and inquire about fami~ history
Activation of toxoplasmosis dlorioretinal scar: 5. Yanoff M, Duker JS. Ophthalmology, 3rd ed. New af mlon cancer. Consider colonoscopy.
Consider Infectious Disease mnsultation York, NY: Mosby, 2008:511-516, 552-554, If combined hamartomas of the retina and RPE,
935-936. mnsider NF2.
Progression of choroidal nevus or melanocytoma
require referral to an OClllar Oncologist If dloroidal nevi or melanocytoma, there is an
extreme~ low chance of rna lignant transformation,
ADDITIONAL READING however these lesions shou lei be observed with
$ ONGOING CARE For more on Chorioretinal scars. see chapter photodoCllmentatlon and se~al examinations.
Hypopigmented Lesions of ltle Fundus. In patients with chorioretinal scaring inquire about
FOLLOW-UP RECOM MENDA110NS intrauterine infections. particularly Toxoplasma
Choroidal nevi and melanocytoma: Photo gondii exposure.
documentation and serial examination (4)[8]
l'affenf Monitoring
Visual acuity
Phato dowmentation of tumor growth for potentiaI
malignarn transformation
PA11ENT EDUCATION
Genetic counseling
VIsuaI acuity and low vision lrnerventlon as
indicated
- Report concerns regarding hearing or neurologic
change if NF2
191
CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENTED EPITHELIUM
[CHRPE]
Hermann D. Schubert
~ BASICS EPIDEMIOLOGY
lnddence ~ DIAGNOSIS
Stevenson described 3 cases in 2,400 examinations in
DESCRIPTION 1891. HISTORY
Congenital hamartiasJhamartomas: Placoid Solitary and grouped lesions rarely have systemic
melanocytic lesions of ttle retinal pigment Prevalence implications (1-3).
epithelium, solitary, grouped, or multiple in one or The prevalence of CHRPE was found to be 1.2% in Multiple and bilateral lesions may be markers of FAP
both eyes, the latter maybe associated with familial the optometric population in 2007. and must not be missed. The family health history is
adenomatous polyposis (FAP) and - historically - Familial adenomatous polyposis occurs in a "21st century genetic tool" inquiring about
Gardner or Turcot syndrome (1). approximately 1 of 13-18,000 live births. gastrointestinal polyps or other tumors and, about
Solitary lesions: Flat, well demarcated round, oval, 70--80% of patients with FAP have pigmented Abdominal pain, rectal bleeding, diarrhea, mucous
or geographic wittl smooth or scalloped margins. The ocular fundus lesions. discharge in any family member.
color is gray brown or jet black. with a surrounding RISK FACTORS In patients with FAP, hundreds of adenomatous
halo of depigmentation and/or central depigmented Multiple small ovoid "typical" lesions, more than 4, colorectal polyps variably develop around puberty to
lacunae which bare the underlying choroidal vessels. and involving both eyes. 30 years of age. Patients with polyps develop
The depigmentation may progress to involve the symptoms 10 years after onset of polyposis by which
entire lesion (1). The usual size is 1-2 disc diameters Genetics time (35--40 years of age) carcinomatous
(DD). however. can occupy one entire quadrant of Solitary and grouped lesions can be familial transformations is present in a majority of cases.
the fundus. Slow concentric enlargement has been Multiple lesions may indicate a mutation in the
adenomatous polyposis coli (APC) gene in which PHYSICAL EXAM
noted and seems to be the rule (2) The most
case the inheritance pattern is autosomal dominant. Ophthalmoscopy, loo~ing for placoid solitary,
common location is superotemporal and equatorial.
The APC gene is a tumor suppressor gene, affecting grouped and multiple melanocytic lesions of the
Macular involvement is rare. There are few. if any,
cell cycle, cell adhesion, and migration. pigmented epittlelium
systemic associations. (3).
- Characteristic widely spaced meridionally oriented
Grouped lesions: Flat, well demarcated round, Germline truncating mutation in the APC gene
hyperplastic lesions. bilateral involvement. and
oval, or geographic smaller black spots (0.1-{).5 DD) causes the disease by not inhibiting tumorigenesis.
more than 4 lesions are reason to suspect FAP (4)
arranged in groups reminiscent of "bear tracks". The APC gene is located on the long arm of
These are usually found in one sector. however can chromosome 5 (5q2 1). DIAGNOSTIC TESTS & INTERPRETATION
involve a large area of the fundus. Smaller lesions The APC gene encodes for a 312-kDa protein. 2,843 Lab
are found more posteriorly. larger ones are located amino acids long. Initial lab tests
peripherally. Bilateral involvement does occur. CH RPE lesions help to predict the mutation site on Fundus photography is used to document the size,
Cutaneous sectorial pigmentations. the lines of the APC gene; mutations between codons 543 and color. and appearance of the lesions. Growth,
Blaschke, may be seen, suggesting patterns of 1309 are associated with a high incidence of CHRPE. depigmentation with age, as well as the rare (case
pigmentary mosaicism in both eye and skin. There More than 700 of disease-causing APC mutations report) malignant change have been documented.
are no systemic associations (1-3). have been reported. An updated database is Fluorescein angiography: Capillary leakage, capillary
Multiple small ovoid hyperplastic lesions associated available at http://www.cancer-genetics.org. nonperfusion
wittl familial adenomatous polyposis (FAP): Slightly Visual Field testing: Relative or absolute scotomas in
raised. oval. with irregular borders and fishtail - COMMONLY ASSOCIATED CONDITIONS
large and old solitary lesions
shaped areas of depigmentation at one or both Solitary and grouped lesions are restricted to the
eye (3) Follow-up & special considerations
poles of the lesion. The lesions have a meridional Solitary CHRPE grows in size in 46-83% over 3 or
orientation and haphazard distribution. Retinal Multiple bilateral ocular lesions: Familial
adenomatous polyposis (FAP), and/or attenuated more years follow-up (2).
invasion and glial, capillary and pigment epithelial
proliferation and hypertrophy are typical. More than FAP, if fewer than 100 adenomas in a more proximal
4 widely spaced small (<0.5 DD) lesions per eye colonic location are present
and bilateral involvement are suggestive of FAP (4). Extracolonic manifestations: Dental anomalies.
osteomas of mandible s~ull and orbits, fibromas.
lipomas. epidermal and sebaceous cysts. adrenal,
thyroid, bladder tumors. sarcomas, and
hepatoblastomas
Gardner syndrome (historic term): FAP and
prominent extracolonic manifestations (see above)
Turcot Syndrome (historic term): FAP and brain
tumors, that is, medulloblastomas, astrocytomas,
ependymomas (4)
192
CONGENITAL HYPERTROPHY OF THE REnNAL PIGMENTED EPITHELIUM (CHRPE)
Imaging 4. Romania A. Zalalv ZN, McGannon E, et al.

All lesions of CHRPE show reduced autofluorescence. . TREATMENT CongenltaI hypertrophy of the retinal pigment
since they rontaln mostly melanin and little lipofuscin. epithelium in tam iliaI adenomatous polyposis.
Diagnostic l'l'oc.Hunn!Other ADDITIONAL TREATMENT Ophtflalmo/ogy 1989;96:879.
If FAP is suspected, annual flexible sigmoid05C0py IISIIes for Referral 5. Kasner L. Traboulsi El, Delacruz Z, et al. A
should be performed starting at age 10 years. Gastrointestinal evaluillion, APC gene testing. histopathologic study of the pigmented fund us
I
Depending on the polyp burden, endosropy of the lesions in familial adenomatous polyposis. Retina
SURGERY/OTHER PROCEDURES 1992;12:35.
stomach, duodenum, and periampullary region should Solitary and grouped pigmentations of the RPE:
be performed ~ 6 months to 4 years. None
Patholaglall Findings Multiple, bililleral. associated with FAP: Flexible ADDITIONAL READING
o Solitary and grouped lesions are romposed of a sigmoidoscopy, colonoscopy, subtatal colectomy
single layer of enlarged pigmented cells which Galiatsatos P, Foulkes WD. Familial adenomatous
contain macromelanosomes and little lipofuscin. The polyposis. Am 1 Gartroeffterol 20D6;101 :385.
basement membrane may be thickened and there ONGOING CARE o Meyer CH, Rodrlg ues EB, Mennel S, et al. Grouped
maybe degeneration and atrophy of the overlying rongenital hypertrophy of the retinal pigment
outer retina. Halos and lacunae correspond to areas FOLLOW-UP RECOMMENDATIONS epithelium follows developmentaI patterns of
of neuroepithelial illrophy. The lesions are flat and Patients with multiple CHRP Eand a diagnosis of FAP: pigmentary mosaidsm. Ophtflalmolagy 2005;
have no mass. resembling hamartias. Annual colonoscopy. 112:841.
Multiple lesions assodated with familial polyposis PROGNOSIS
may be similar to grouped lesions. howevet more Solitary and grouped CHRPE t)lllcally enlarge. Retinal
often show hypertrophy and hyperplasia of plump atrophy can contribute to visual field defects. . CODES
ret! naI pigment epithelial cells, ret! naI lnW~S!on as COMPLICATIONS
well as retinal vascular changes. Lesions are ICD9
Carcinomatous transformation
multilayered and have thidmess, resembling 1!KI.S Malignant neoplasm of retina
hamartomas (5). 361.30 Retinal defect, unspecified
DIFFERENTlAL DIAGNOSIS REFERENCES o 362.89 Dthl!r retinal disorders
o Malignant melanoma 1. Gass JDM. Focal congenital anomalies of 1he retinal
o Reactive retinal pigment epithelial hyperplasia pigment epithelium. Eye 1989;3:1.
Pigment epithelial adenoma/adenocarcinoma 2. Shields CL, Mashayekhl A. HoT, et al. Solitary
CLINICAL PEARLS
o Albinotic nevi of the RPE congenital hypertrophy of the retinal pigment Patients with solitary lesions need to be informed
Black sun burst lesion of sickle cell retinopathy epithelium. Ophtflalmo/ogy 2003;1 10:1968. that slow growth of the lesion is the rule, whereas
Choroidal nevi 3. Shields JA. Shields CL. Shah PG, et al. Lack af transformation to adenocardnoma Is extremely rare.
association among typical congenital hypertrophy Patients with grouped lesions should check their
of the retinal pigment epithelium, adenomatous skin for the Iines of Blaschko.
polyposis, and Gardner syndrome. 0/iltflalmology o Patients with bilateral and more than 4 (multiple)
1992;99:1709. small hyperplastic haphazardly spaced lesions
should be investigated for familial adenomatous
polyposis, Gardner (extracolonlc, mesodermaO and
Turcot (neuroectodermal, brain tumor) Syndromes.
Family health history, indirect ophthalmoscopy,
flexible sigmoidoscopy/colon05C0py, APC genetit
testing should be done, In this order.
193
CONGENITAL HYPOPIGMENTED ROINAL LESIONS
Avni Badami
Alex V. Levin
~ BASICS
GENERAL PREVENTION Aicardi syndrome
For conditions with genetic associations, genetic - Central nervous system malformation (absent
counseling, and/or prenatal testing (if mutated gene corpus callosum), seizures, developmental delay,
DESCRIPTION is known or congenital abnormalities are identified skeletal abnormalities
Lesions characterized by reduced or absent pigment in family members) Leber congenital amaurosis
in or absence of the retinal pigmented epithelium or For infections: - Renal disease, deafness, developmental delay
choroid present at birth. -Toxoplasmosis-pregnant women should not eat
~ DIAGNOSIS
Includes, but is not limited to: Tumors undercooked meat and avoid exposure to cat
(retinoblastoma, astrocytic hamartoma of tuberous litter. With confirmed maternal infection, systemic
sclerosis, congenital benign gliotic tumors), treatment may prevent infection of fetus.
infections (cytomegalovirus, toxoplasmosis, -Varicella-women should be vaccinated no later
HISTORY
varicella), retinal dystrophies (torpedo maculopathy, Family history of retinoblastoma, tuberous sclerosis,
than 1 month before pregnancy. If a
Leber congenital amaurosis), and congenital coloboma, Aicardi syndrome, or Leber congenital
nonimmunized previously noninfected mother is
abnonmalities (coloboma, Aicardi syndrome) amaurosis
exposed to varicella virus, consider administration
of prophylactic treatment witll varicella zoster History of prior fetal loss with infection or Aicardi
ALERT immune globulin (VZIG) or acyclovir or valacyclovir (male fetuses)
Retinoblastoma should be considered in the to prevent fetal infection. - Known exposure to infection in utero
differential diagnosis of any white retinal lesion in - Cytomegalovirus-good hygiene is essential to - Otller known associated anomalies
infancy. prevent maternal infection. If mother becomes PHYSICAL EXAM
infected, consider treatment with CMV immune Complete ophthalmologic and systemic exam
RISK FACTORS globulin to protect fetus. In retinoblastoma, Tumors may be endophytic or
Family history of retinoblastoma or tuberous exophytic, unilateral or bilateral, single or multiple,
PATHOPHYSIOLOGY
sclerosis may have vitreous seeding, or rarely inflammatory
Hypopigmented retinal epithelium due to a wide
Congenital infections: Cytomegalovirus (CMV), range of disease processes; cell may contain a low involvement of anterior segment or orbit
toxoplasmosis, varicella amount of melanin or there may be a complete Coloboma may also affect iris and/or optic nerve,
Chromosomal aberration absence of RPE. retinal detachment caused by breaks in dysplastic
Parental consanguinity leading to autosomal In coloboma, a failure of complete closure of the retina witllin coloboma.
recessive disease choroid fissure results in a gap in the choroid and Astrocytic hamartoma in infancy presents with
Genetia overlying dysplastic retina (intercalary membrane). gray-white and translucent with a smooth surface,
Retinoblastoma is an autosomal dominant disease Infections result in RPE destruction. in retina or optic nerve.
associated with loss of heterozygosity of the RB 1 Retinoblastoma and astrocytic hamartoma are Toxoplasmosis chorioretinal scars are large and up
gene (13q 14). neoplastic processes. to 5 optic disc diameters in size. Uni or multifocal,
Tuberous sclerosis is autosomal dominant preferential involvement of macula, hyperpigmented
(associated with TSC 1or TSC2 gene mutations)
ETIOLOGY margins
Genetic mutation (twa-hit mechanism in Chorioretinal scars of congenital varicella are similar
Coloboma-CHARGE syndrome (CHD7, SEMA3E, retinoblastoma and astrocytic hamartoma)
CHX10, OTX2, SHH genes and others, del22q1 1.2 to those of toxoplasmosis.
Cytomegalovirus, Toxoplasma gondii spread Leber congenital amaurosis examination in infancy
and other chromosomal aberrations. Multiple
through the placenta in utero. can have yellow-white "macular coloboma, may
systemic syndromes associated with coloboma
Isolated coloboma can be either autosomal COMMONLY ASSOCIATED CONDITIONS or may not have other signs of retinal dystrophy,
dominant or autosomal recessive. Retinoblastoma may also affect pineal gland or poor vision.
Aicardi syndrome-X-Iinked dominant inheritance bone marrow, later secondary tumors especially if In Aicardi syndrome, hypopigmented lacunar lesions
Leber congenital amaurosis- autosomal recessive radiated. are multiple, bilateral, and characterized by
(GUCY2D, RPE65, RDH12, AIPL 1, LRAT. RPGRIP1, Astrocytic hamartoma of tuberous sclerosis pigmented borders with preferential involvement of
SPATA7, CRX, CRB1, RPGR1 PI, CEP290, IMPDH1 - may have seizures, skin lesions, subependymal posterior pole.
and other genes) periventricular tubers, developmental delay Cytomegalovirus lesions are usually
Prenatal varicella necrotidinflammatory macular lesions (maculitis) in
- Microphtllalmia, optic atrophy, cataracts, one or both eyes.
cicatricial skin lesions, atrophy/hypoplastic lesions DIAGNOSTIC TESTS It INTERPRETATION
of limbs
Lab
Cytomegalovirus Initial lab tests
-Jaundice, thrombacytopenia/purpural Karyotype for congenital abnormalities
Petechia, hepatosplenomegaly, porencephalic cyst Gene analysis based an diagnosis
Toxoplasmosis Serology test for toxoplasmosis, varicella,
- Intracranial calcifications, uveitis, hydrocephalus cytomegalovirus
Coloboma
-Systemic abnormalities (e.g., Coloboma+ Heart
Consult genetics counselor if genetic disorder
+ Atresia choanae + Retardation +
Genitourinary + Ear defines full expression of Low vision support, as needed
CHARGE syndrome) Evaluation of family members if genetic disease
194
CONGENITAL HYPDPIGMENTED REllNAL LESIONS
Imaging ADDmONAL TREATMENT COMPLICA110N5

Initial approach GeneTalllleesu~W Retinoblastoma; death, visual loss
Ultrasound to confirm rumor in retinoblastoma Low llfslon ea ey Intervention. Coloboma: Rednal detad1ment
(caldfication} Toxoplasmosis: Reactivation
Issues for Referral
MRl or CT to confirm diagnosis of retinoblastoma, Genetic consultation
tuberous sclerosis. Alcardl, congenital Infectlon
Oncology for retinoblastoma
I
Folluw-up & spetial consideration5 REFERENCE
Enudeation may be indicated in rl!linoblastoma
For progressive conditions, continue to monitor patients followed by OOJiarlst 1. Shields JR. Eagle RC, Shields CL, et al. Aggressive
patients. retinal astrocytomas in four patients wittl b.Jberous
Additional Therapia
Diagnostic Ptocedut'eS/Other See Retinoblastoma d1apter sclerosis complex. Trans Am Ofiltha/mal Soc
Bone marrow test or lumbar puncture if 2004;102:139-148.
Seizure management in Aicardi
rl!linoblastoma
Electrorl!linogram to assess for Leber's amaurosis COMPLEMENTARY a ALTERNATIVE
(ERG severely reduced or isoelectric) THERAPIES ADDI110NAL READING
Pllthological Findings None known. Shah PK, Narendran V, Kalpana N. Alcardl
See Retinoblastoma chapter 5URGERY/OT11ER PROCEDURES syndrome: The lmponance of an ophthalmologist In
Cytomegalovirus infections: Retinal necrosis and Surge!}' for retinal detamment in coloboma patients. its diagnosis. Iridian 1 Ophtfla/mol 2009; 57(3):
edema with nuclear viraI indusions Enudeation for some retinoblastoma patients. 234-6.
Astrocytic hamartomas of tuberous sderosis: Verloes A. Updated diagnostic aiteria for CHAAGE
IN-PATIENT CONSIDERATIONS syndrome: A proposal. Am 1 Med Genet A
Elongated fibrous astrocytes with lnte~aclng
cytOplasmic proO!SSes in the nerve fiber layer of Initial Stabilization 2005;133A(3):306-8.
rl!lina (1) See Retinoblastoma chapter. Villara 0, Filiseui D, RodHJeries F, et al.
Toxoplasmosis: Tachyzoites appear as crescent Comparison of enzyme-linked immunosorbent
shapes and stain well with Giemsa or Wright stain. $ ONGOING CARE assay, immunoblotting, and PCR for diagnosis of
Leber congenital amaurosis: Underdeveloped and toxoplasmic chorioretinitis. J Clin Microbial
hypomelanized retinal pigmented epithelium and FOLLOW-UP RECOMMENDATIONS 2003;41 (8):3537-4,.
phatoreceptors Long-term follow-up Is recommended for aII Wilson ME, Saunders RA, Trivedi RH, eds. Pediatric
Aicardi syndrome: Thinned aut RPE and decreased retinoblastoma padents (see Retinoblastoma ophlha/malogy: Cumnt lhoufllt and a practical
number and size of vessels d1apter). guide. Germany: Springer-Verlag Berlin Heidelberg,
Low vision support and intervention 2009.
Monitor coloboma every 6-12 months for
Astrocytic hamartoma of tubereus sdervsis. detad1ment
Retinoblastoma Monitor toxoplasmosis for acdva11on of lesions . CODES
Coloboma
Cytomegalovirus PATIENT EDUCATION ICD9
http://www.tsalliance.org/ 190.5 MaIignant neoplasm of retina
Toxoplasmosis
http://www.aica rd isyndrome.org/site/ 743.56 Other retinal changes, congenital
Varicella
Leber congenital amaurosis http://wwN.bllndness.org/ 759.6 Other congenital hamartoses. not elsewhere
Aicardi syndrome http://wwN.ffb.ca/ classified
Astrocytic hamartoma of bJ berous sclerosis PROGNOSIS
Torpedo maculopathy Retinoblastoma has variable prognosis depending
on size and extent of tumor. CLINICAL PEARLS
Ocular lesions of tuberous sclerosis usually not At.Yays consider reli noblastoma in the differentiaI
TREATMENT visually sign lflcant diagnosis of a hypopigmented retinal lesion and
Leber congenital amaurosis usually blindness but refer urgently If suspecled.
MEDICATION gene therapy now becoming available for Cl!rtain
For active congen itaI toxoplasmosis lesions Tuberous sclerosis should be considered in any
gene mutations infant presenting with seizures or cardiac lesions.
(overlying vitreitis, active retinitis): Systemic Aicardi syndrome usually complicated by cortical
pyrlmethaml ne, sulfadlazl ne, trlsulfapyrlmldlne, Always check family history for background of
visual Impairment diseases causing congenital hypopigmenlary lesions.
folinic add
Toxoplasmosis may or may not reactivate, poor Consider known associated condldons v.t1en
For cytomegalovirus retinitis usually no treatment is
vision if fovea involved assessing an Infant with rl!llna I hypoplgmentary
needed-self-limiting, if infant immune system
normal CMV marulitis self-limited lesions.
For varicella lesions - no treatment needed Onactive Varicella lesions rarely progress.
scars) Coloboma may be asymptomatit or visually
Chemotherapy for retinoblastoma (see chapter devastating.
Retina Retinoblastoma)
195
CONGENITAL PIT OF THE OPTIC DISC
PaulS. Baker
Imaging
Baseline visual field testing
DESCRIPTION HISTORY
Asymptomatic if isolated. Usually an incidental Optical coherence tomography
A rare. usually unilateral. congenital excavation of the -Typically shows schisis-like separation between
optic nerve head that can be associated with a serous finding on examination
inner and outer retina and subretinal fluid
macular detachment. If serous macular detachment, may notice blurred
vision, distortion, blind spot, or micropsia Fluorescein angiography
EPIDEMIOLOGY - Unremarkable with no dye accumulation in area
Prevalence When symptomatic for subretinal fluid, most eyes of serous detachment. but may have late
Approximately 1 in 10,000 eyes present with visual acuity between 20/40 to 20160 hyperfluorescence of the optic pit
(1)[8]. - Rule out choroidal neovascular membrane or
Men and women affected equally
PHYSICAL EXAM central serous chorioretinopathy
RISK FACTORS
No risk factors have been conclusively identified. Small, round, hypopigmented, grayish, excavated DIFFERENTIAL DIAGNOSIS
depression in the optic nerve head Acquired pit (pseudopit}: Can be seen in low-tension
Genetics Bilateral in 10-15% of cases and primary open-angle glaucoma
Most cases are sporadic. but a few reports of Optic disc anomalies such as scleral crescent
autosomal dominant pattern of inheritance. 70% located on temporal side of disc, 20% located
centrally (2)[8]. lilted disc syndrome
PATHOPHYSIOLOGY Circumpapi llary staphyloma
Optic disc originates from the optic cup when the More commonly seen in larger optic discs
Adjacent peripapillary chorioretinal atrophy Central serous chorioretinopathy and subretinal
optic vesicle invaginates and forms an embryonic neovascular membrane in setting of serous macular
fissure (or groove). White or gray membrane overlying pit
detachment
Optic pits may develop due to failure of the superior Visual field defects: Arcuate scotoma is most
edge of the embryonic fissure to close completely. common
Twolayered maculopathy consisting of a primary Serous retinal detachment extending from the disc
inner retinal layer schisis and a secondary outer to the macula
layer detachment - Estimated 4D-50% of pits
Mechanism of macular detachment. - More commonly when pit is large and located in
- Previously proposed that cerebrospinal fluid temporal region of disc
leaked ttuough optic pit into subretinal space - Rare with small pits and located more centrally
subarachnoid space - Most confined between superior and inferior
-Widely accepted that liquefied vitreous fluid leaks arcades in macula and are contiguous with optic
through optic pit into subretinal space disc. sometimes through a small isthmus of
- One alternative theory suggests direct subretinal fluid
communication between optic pit and retina, -Serous detachments are generally low(< 1 mm in
causing schisis-like separation with a secondary height) and contain cystic regions.
accumulation of subretinal fluid. Pediatric Considerations
- Vitreomacular or vitreopapillary traction may play Watch for amblyopia in children, especially in eyes
a role in fluid entry into retina from optic pit. with serous macular detachment.
Rarely associated with basal encephalocele.
196
CONGENITAL PIT OF TliE OPTIC DISC
REFERENCES
1. Sobol WM, Blodi CF, Folk J(, et aI. Long-term
SURGERY/OTHER PROCEDURES FOLLOW-UP RECOMMENDATIONS visual outcome in patients with optic nerve pit and
Laser pho!Dcoagulation o Isolated optic pits serous retinal detachment of the macula.
- One or several rows of Iight laser bums between - Yearly dilated fundus examination and visua I field O!iJthalmo/ogy 1990;97:1539-1 542.
the area of serous retinal detachment and the
optic disc
testing if indicated
- Amsler grid
2. Brown GC, Shields JA. Goldberg RE. Congenital
pits of the optic nerve head. II. Cll nlcaI studies In
c
o Optic pits with serous macular detachment humans. Ofi!thalmalogy 1980;87:51~5.
- Several studies reported successful resolution of
- Reexamine 3-4 weeks after treatment to check. 3. Theodossiadis G. Evolution of congen itaI pit of the
serous detachment, but this outcome did not
for fluid resorption optic disc with macular detachment in
always translate into improved visual outcome
- Watch for amblyopia in children photocoagulated and nonphotocoagulated eyes.
(3)[8].
PROGNOSIS Am J Ophthalmo/ 1977;84:62H31.
Macular budding
o Optic nerve head pits are stationary, but assodated 4. Schatz H, McDonald HR. Treatmem af sensOIY
- Converts posterior hyaloid traction from an inward
retinal mmpi ic:ations such as serous macular retinal detachment associated with optk nerve pit
to an outward vector. which leads to reattachment
detachment can be progressive. or coloboma. Ofi!thalmalogy 1988;95:178-186.
of the macula
5. Jahnson TM, Johnson MW. Pathogenic implications
o In a series by Brown et al, mean visual acuity at
Posterior vitrectomy, internal tamponade, and of subretlnal gas migration through pits and
5 years was 20/80 (2)[8].
photocoagulation (4,5)(8] il'tYPical colobomas of the optic nerve. Ard!
o In a study by Sobol et a~ most patients lost 3 or Ofi!thalma/2004; 122(12): 1793-1800.
- Most encouraging long-tenn visual outcomes more lines of vision within the first6 months of
- Induction of posterior vitreous detachment helps presentation. With long-tenn foiiDIMlp. only 20%
rei ieve vitreous traction of patients maintained visual acuities better than
201200 (1)[8). . CODES
o Spontaneous macular reattachment can occur In ICD9
rare instances, espeda lly in eyes undergoing 363.71 Serous choroidal detachment
posterior vitreous separation.
743.57 Specified congenital anomalies of optic disc
COMPUCATlONS
Serous retinal detachment in macula.
CLINICAL PEARLS
Any change in appearance of the optic pit over time
indicates that the lesion may be an acquired notch
of the neuroretinaI rim secondary to a glaucoma.
197
CONJUNCTIVAL AND CORNEAL FOREIGN BODIES
Melissa B. Daluvoy
Christopher J. Rapuano
~ BASICS
PHYSICAL EXAM Imaging
Signs can include normal or decreased visual acuity An anterior segment ultrasound biomicroscopy, gentle
(yA}, eyelid edema, conjunctival injection, anterior B-scan ultrasound, or orbital CT scan (1 mm coronal
DESCRIPTION chamber reaction, corneal edema, and/or infiltrate. and axial cuts} can be helpful to rule out IOFB. MRI
Foreign material on or in the cornea or conjunctiva Always check VA. should be avoided if there is a possibility the FB
- Most commonly metallic or organic material Meticulous slit lamp biomicroscopy examination is contains metal.
EPIDEMIOLOGY performed to assess the location, size, and depth of Diagnostic Procedures/Other
Incidence the FB. A positive Seidel test at the slit lamp proves that the
One of the most common causes of emergent Metallic foreign bodies can leave a residual rust ring. anterior chamber has been entered.
ophthalmic visits: A long-standing FB can lead to infection, DIFFERENTIAL DIAGNOSIS
- Peak incidence in second decade inflammation, and necrosis of surrounding tissue. Conjunctival. corneal, scleral laceration
- More common in males Check anterior chamber for inflammation as a result IOFB
of traumatic iritis.
RISK FACTORS Corneal abrasion
Use of power tools/machinery: Always look. for signs of IOFB. Gonioscopy
examination is performed if appropriate to check the Ruptured globe
-Windy weather Dry eyes
angle for FB.
GENERAL PREVENTION
Use of safety glasses
PATHOPHYSIOLOGY
Small foreign material becomes imbedded in
Clues for IOFB or occult lacerations include:
-Chemosis
-Subconjunctival or anterior chamber hemorThage
-Poor VA
rJ TREATMENT
MEDICATION
conjunctiva, corneal epithelium, or stroma. -Afferent pupillary defect First Line
- Irregular pupil Conjunctival FB (after FB removal}:
ETIOLOGY - Iris transillumination defects
Often work related - AbnorTnally deep or shallow anterior chamber Topical antibiotic ointment or drops q.i.d. for
-Hypotony 5-7 days is recommended.
~ DIAGNOSIS -Vitreous hemorrhage

-Traumatic cataract
Corneal FB (after FB removal):
Topical antibiotic ointment or drops q.i.d. for 7 days
HISTORY Fluorescein staining may highlight conjunctival or is prescribed. The author recommends a topical
The patient may have pain, foreign body (FB} corneal defects and may indicate an FB under the fluoroquinolone
sensation (both relieved with topical anesthetic), upper lid. Second Line
photophobia, tearing, and redness If no signs of a globe rupture, evert the upper lid Cycloplegics can be added for anterior chamber
May or may not have a known history of trauma and sweep the fornices to search for foreign bodies. inflammation.
Important to know mechanism of injury including Dilated fundus exam to look for IOFB Oral NSAI DS can be used for pain control; topical
the material and velocity of the FB NSAIDS can also be used for pain management but
are avoided by the author due to small risk. of
ALERT Lab corneal thinning.
Be highly suspicious for intraocular foreign body Corneal or conjunctival cultures should be performed if
(IOFB) or scleral laceration with high-velocity the surrounding tissue appears infected. ALERT
injuries (e.g., metal on metal). Under no circumstances should topical anesthetics
be given or prescribed to the patient for pain
control.
198
CONJUNCTIVAL AND CORNEAL FOREIGN BODIES
ADDITIONAL TREATMENT lssllfls for llflfwral ADDI110NAL READING

General IIAHsUI'eS Suspldon for Intraocular FB or ruptured globe
Removal of FB: Suspldon for Infection Turner A. Rablu M. Patching for corneal abrasion.
Codlrane Database Syst Rev 2006:(0004764.
Apply topical anesthetk Additional Therapies Gumus K, Karak.ucuk. S. Mirza E. Corneal injury from
A lid speculum can be used Pressure patthing has been recommended but has not
Mulliple superfidal fragments can often be removed been proven to eJCPedill! heaIing and can mask a metallic foreign body: An otcUpational hazard. Eye C
& ContJct Lens 2007;33:259-260.
witll copious irrigation. infections; therefore, the author does not recommend
patthlng. Kah TA, Salowi MA, Tagal JMet al. Occult open
Small foreign bodies In tile conjunctiva or cornea globe Injury In a patient with a comeal foreign body:
can be removed witfl a moistened cotton tip SURGERY/OTHER PROCEDURES Acase report. Cornea 2009;28:1164-1166.
applicator or jeweler forceps. Evaluation in tile operating roam is required if there is Jayamanne DGR. Bell RWD. Non-penetrating
A special hodcey stick-shaped FB spud is often a high suspidon for an occult laceration/rupture. corneal foreign body injuries: Factors affecting delay
helpfuI to remove corneal FBs. in rehabilitation of patients. 1 Aaid Emerg Mf!d
FBs that are small, Inert, and not easily accessible 1994;11:195-197.
can be left without harm - they may surface later $ ONGOING CARE Wong BWC, Lal JS, Law RW, et al. In vtvo confocal
and be more easily removed. microscopy of corneal insect foreign body. Comet~
ALERT Follow-up in 48-72 h after conju netivai FB removal 2003;22:56-58.
Carefully assessment of the deptll of the FBprior to Follow-up visits every 24-48 h until the epithelial Ehlers JP, Shah CP. The Wills eye tnamJ8!.
removal is done. Extension into the anterior defect heaIs after comeal FB removal Philadelphia: lippincott Williams & Wilkins,
chamber mandates removaI under sterile conditions Patient MonlfDrlng
2008:17-19.
and may require closure witll glue or sutures. Routine dilated fundus exams. intraocular pressure
checks, and gonioscopy should be performed after
Metallic corneaI FBs often leave a rust ring that can Injury. . CODES
be removed using a small ophtllalmic driII. Deep
remaining rust is safer to leave behind. PATIENT EDUCATION ICD9
Patients who engage in high-risk professions. sports, 360.60 Foreign body, intraoculat unspecified
Insect hairs are common ocular FBs tllat can lndte a
profound inflammatory response. Removal of the FB or hobbies should always use protective eyewear. 930.0 Carneal foreign body
should be attempted and treated witlltDpical PROGNOSIS 930. 1 Foreign body in conjunctivaI sac
sll!roids and antibiotics. Usually very good with fu II recovery for small FB
Measure the final epitflelial deiect to monitor injuries
healing. COMPUCATIONS
Infection
Inflammation
Scar~ng
199
CONJUNCTIVAL AND CORNEAl lACERATIONS
Melissa B. Daluvoy
~ BASICS
Clues for full thickness lacerations include:
-Chemosis . TREATMENT
-Subconjunctival or anterior chamber hemorrhage
DESCRIPTION -Poor VA MEDICATION
A tear or cut in the conjunctiva and/or cornea -Afferent pupillary defect First Line
Corneal lacerations can be full or with partial - Irregular pupil Conjunctival lacerations:
thickness -Abnormally deep or shallow anterior chamber Conjunctival lacerations without scleral involvement
-Hypotony
EPIDEMIOLOGY can be treated with topical antibiotic ointments.
-Vitreous hemorrhage
lnddence - Consider polysporin, bacitracin, or erythromycin
-Traumatic cataract
Exact incidence is unknown ointment q.i.d.
A positive Seidel test confirms full thickness
It is more common in young males laceration. Apply concentrated fluorescein to site of Corneal lacerations:
RISK FACTORS interest and watch for green (dye diluted by Partial thickness corneal lacerations can be treated
Hazardous occupations. sports. or hobbies without the aqueous) stream of dye under the blue light. with an ophthalmic ointment and fluoroquinolones
use of protective eyewear Always examine both eyes carefully. drops.
For conjunctival lacerations, perform a gentle but Full thickness corneal lacerations should be treated
GENERAL PREVENTION with a 7- to 1 Oday course of systemic antibiotics
thorough examination using topical anesthesia and
Use of protective eyewear perioperatively:
a sterile cotton tip applicator to rule out scleral
EnOLOGY laceration and/or subconjunctival FB. - For example, moxifloxacin 400 mg per day or
Can occur following blunt or sharp penetrating cefazolin 1 g IV per 8 h or vancomycin 1 g IV per
If possible perform a dilated fundus exam to look for
trauma the possibility of IOFB. 12 h (pediatric patients: cefazolin 25-50 mglkg
per day is divided into t.i.d. dosing and gentamicin
COMMONLY ASSOCIATED CONDITIONS Pediatric Considerations 2 mglkg IV per 8 h)
There should always be a high index of suspicion for Pediatric patients often give a poor history and are Subconjunctival, intravitreal. or intracameral
an intraocular foreign body (IOFB) and/or occult scleral difficult to examine and may require examination antibiotics can also be considered at the time of
lacerations. under anesthesia. surgery.
- Subconjunctival: 0.05 mLof cefazolin
~ DIAGNOSIS
(25-50 mglml) or vancomycin (25 mg/ml) and
Imaging gentamicin (40 mglm L)
An orbital CT scan (1 mm axial and coronal cuts)
HISTORY -Intraocular: 0.1 m of ceftazidime (2 mg/0.1 ml) or
may be helpful to rule out IOFB. MRishould be
Details of the traumatic event and mechanism of injury amikacin (0.4 mg/0.1 ml) and vancomycin (1 mgt
avoided if there is a possibility that the FB contains
0.1 ml)
ALERT metal.
Be highly suspicious for IOFB or ruptured globe with Topical antibiotics can be initiated once the wound
An expert may be able to perform a gentle B-scan is closed (fluoroquinolones or fortified antibiotics).
high-velocity injuries (e.g., metal on metal; BB gun ultrasound to identify an IOFB.
injuries): Antiemetic; and pain medications should be given
Symptoms include pain, foreign body (FB) ALERT before and after surgical repair to prevent vomiting
A normal CT scan does not rule out an occult or straining that can raise intraocular pressure and
sensation. redness. and photophobia.
laceration/ruptured globe; therefore, if there is prolapse intraocular contents.
Determine the last time the patient ate; this may
influence time of surgical repair if required. clinical suspicion, a high standard of care mandates Second Line
surgical exploration. Cycloplegic; can be added for inflammation and/or
Obtain complete history of previous ocular
iris damage.
surgeries.
DIFFERENTIAL DIAGNOSIS Topical steroids should be used cautiously on a
Corneal abrasion case-by-case basis.
PHYSICAL EXAM
Avoid pressure to the eye. Corneal or conjunctival FB
Check visual acuity (VA); do not check intraocular Ruptured globe/scleral laceration
pressure if you suspect there is a full thickness IOFB
laceration.
Diligent slit lamp examination is performed to learn
the size and extent of the laceration and any
entrapment or loss of intraocular contents; it is done
without applying any pressure to the globe.
Fluorescein staining may highlight subtle
conjunctival or corneal defects.
200
CONJUNCTIVAL AND CORNEAL LACERATIONS
ADDITIONAL TREATMENT ALERT PROGNOSIS

General IIAHsUI'eS The patient should be warned of the risks of Prognosis depends on the se>.'ertty of the Injury.
Conjunctival lacerations: sympathetic ophthalmia (SO) which can OCOJr Poor VA on presentadon and delay In presentation
Conjunctival lacerations <1 em and those in the anytime after the trauma and cause loss of vision ID tend to have worse prognoses.
fornix can often be obseM!d without repair. the uninjured eye. Some injuries will require multiple surgeries (e.g.,
unge lacerations can be closed using interrupted or Tips for repair: cataract removal. lens implantation; repair of retinal
running 8-0 Vlcryl sutures and using caution not to Find identifiable land marks (e.g., limbus or detachment; iris repair) to ri!Siore vision. C
Incorporate folds of conjunctiva or Tenon's capsule. dlstlnet area of laceration) and begin wound Injuries contaminated wlll1 organic matertal are at a
Elcploration is warranted if there is concern for an apposition there. higher risk. of infections.
underlying scleral laceration or muscle involvement. Reposit any protruding uveal tissue unless it COMPLICA110NS
Corneal lacerations: appears necrotic. infected, or epithelialized. Use Endophthalmitis (2-7%)
Small selfsealing or slowly leaking lacerations may of a viscoelastic agent may help with this process. Cataract (2 7-1i 5%)
be treated with a combination of aqueous If vitreous is present. it is important ID perform Glaucoma
suppressaiTIS, cyanoacrylate tissue adhesive, a manual or automated vltrectomy to remDYe any Retinal detachment
bandage soft contact Iens and topical vitreous traction to the wound. Iris damage
fluoroqui noIones. 1 Continue pladng sutures until watertight closure SO
Partial thickness corneal lacerations with associated is achieved. Missed FB
wound gape should be surgically apprOld mated ID If scleral involvement is suspected a canju netivai Mlssed sderallaceradon
prevent excessive scarrtng and Irregularity espedally perttomy should be performed and any lacerations
when in the visual axis. ConjunctivaI cystS
repaired as far posteriorly as possible.
Large fullthidcness corneal lacerations require
1 Suture recommendations; 11}-() nylon in the
urgent repair in the OR. ADDITlONAL READING
cornea; 9-{) nylon at the limbus; 8-{) nylon in the
Vvhile waiting for repair, keep the eye covered with a
sclera; 8-0 VicryI for conjunctival closure. Segev F, Assia El, Harizman N, et al. Corneal
firm shield ID prevent~ rubbing.
Administer a tetanus shot if appropriate. laceration by sharp objects in children seven years of
IN-PATIENT CONSIDERATIONS age and younger. Comea 2007;26:319-323.
Nothing to eat or drink 6-8 h prior to surgical repair
Initial S~blllzatlon Arf!'/ ML. Mootha W, Whittemore AR, et al.
lssuu for Rafamtl A patient with a full th itkness laceration requiring Computed !Dmography In the diagnosis of oct~~ It
Full thidcness corneal lacerations need urgent repair repair should be admitted and treated with systemic openijlobe injurie5. Ophthalmology 2007;
by a qualified ophthalmologist. antibiotics until surgery can be perfonned ideally 114:1448-1452.
SURGERY/OTHER PROCEDURES within 24 h. Essex RW, Yi Q, Charles PG, et al. Post-traumatic
Full thickness corneal lacerations should be repaired Discharge Criteria endophthalmilis. Ophthalmology 2004; t1 1:
in the operating room preferably under general Once primary repair is complete 2015-2022.
anesthesia. Ehlers JP, Shah CP. Tl!e Wills eye manual.
A comprehensive infurmed consent should be Philadelphia: Lippincott Williams & Wilkins,
signed prtor to surgery. ONGOING CARE 2008:24-25, 35-36.
ALERT FOLLOW-UP RECOMMENDATIONS
The anesthesiologist should be made aware of the Most patients can be followed on an Out'f.latient
basis with dose follow-up for signs of infection, . CODES
open globe status which may Influence wh lch
medications they use for induction. endophthalmitis. and SO.
The patient should wear a shield or protective ICD9
eyewear at all times until the wound Is secure. 871.0 Ocular laceration without prolapse of
Take care during the prep and drape not to apply
Dilated fundus exam or Bscan should be performed lntraocular tissue
undue pressure ID the globe.
in the early postoperative period to evaIuate the 918.1 Superficial inju~ of tomea
The goal of the primary repair is to restore integrity
ofthe globe. posterior pole for retinal tears. detachment. 918.2 Superficial injury of tonjunctiva
Traumatic cataracts and iris damage are usually choroidal effusions, or hemorrhages.
addre5sed at a later date under a more controlled l'ediatric Considfmltions CLINICAL PEARLS
setting. Children <8 years old are at high risk: of amblyopia
Regard less of the l!lrtent of injury and loss of and may require prompt intervention to restore vision At.Yays have a high clinical suspidon for underlying
intraocular contents. primary en udeation is rarely and/or patdling ID prevent irreversible amblyopia. sderallaceration or IOFB.
performed. In full thickness lacerations the Immediate goal Is
PATIENT EDUCATION
restoration oflhe integrity of the globe in a complete
Patients should always use protective eyewear when
engaging in high-risk occupations, sports, or and timely fashion to prevent loss of intraocular
hobbies. contents, infection, and other ocular complications.
1 If vision is severely affected in the injured eye. the
patient may experience difficulty with depth

perception and should gradually return to activitie5
where depth perception Is crucial.
201
CONJUNCTIVAL LYMPHOMA
Carol L. Shields
Jerry A. Shields
RISKFAOORS
Immunosuppressed patients from organ transplant or
human immunodeficiency virus are generally at risk for
DESCRIPTION lymphoma. HISTORY
lymphoid tumors comprise a spectrum of neoplasia In a review of 117 consecutive cases of conjunctival
Genetia lymphoid tumors from the Wills Eye Institute Ocular
from benign hyperplasia to malignant lymphoma, Most conjunctival lymphoma is of the mucosal
based on microscopic features and immunopheno- Oncology Service, the main findings noted by the
associate lymphoid tissue (MALT) type. This represents patient included a mass in 30%, irritation in 29%,
typic findings. lymphoma, in general, is classified
8% of all lymphoma and tends to occur in mucous blepharoptosis in 8%, epiphora in 7%, blurred vision
into 2 major groups, including those of lymph node
membranes like the intestines and the conjunctival. in 5%, proptosis in 3%, diplopia in 3%, and no
or splenic origin (nodal) and those that originate at
MALT lymphoma can showt(11;18)(q21;q21) symptoms in 15%.
other sites without lymph nodes (extranodal). It has
chromosomal translocation giving rise to a AP12-MLT
been found that approximately one-fourth to half of PHYSICAL EXAM
fusion gene. Other genetic alterations are found at the
lymphomas are extranodal. Data from the Wills Eye Institute Ocular Oncology
locus 1p22 and 18q21.
The most common extranodal sites for lymphoma Service has revealed the following findings listed
include stomach, tonsils/adenoids, skin, small GENERAL PREVENTION below.
intestine, and these represent more than 50% of PATHOPHYSIOLOGY Tumor location at limbus in 7%, midbulbar in 42%,
extranodallymphomas. There is some evidence that conjunctival lymphoma fornix in 44%, tarsus in 0%, and caruncle or plica
Ocular lymphoma represents only 2% of extra nodal might be related to chronic infection with semilunaris in 7%.
lymphoma and the ocular sites include conjunctiva, Helicobader pylori, Chlamydia psittad, or no Tumor quadrant location was superior in 41 %,
orbit, eyelid, uvea, vitreous, and retina. infection at all. Data from the US tend to show
temporal in 10%, inferior in 21%, nasal in 14%,
Ocular lymphoma can be related to the eventual H. pylori as the cause, data from Italy report C.
and multiple sites in 13%.
development of systemic lymphoma. psittad, and data from Scandinavia show no
organisms. Additional lymphoma was found in the eyelid in 3%,
orbit in 15%, uvea in 4%, retina in 0%, and
ALERT It is believed that the chronic infection leads to vitreous in 1%.
A painless. pink conjunctival mass could represent multiple mutational events that eventuate in
lymphoma. Systemic lymphoma was present in 31% and absent
lymphoma and could be the first sign of a
in69%.
life-threatening malignant lymphoma. Patients with chronic immune stimulation like those
with autoimmune diseases like Sjogren's syndrome DIAGNOSTIC TESTS & INTERPRETATION
Geriatric Considerations and Hashimoto's thyroiditis are at risk for lymphoma. Lab
Most conjunctival lymphoma occurs in mid adults or ETIOLOGY Initial lab tests
older adults. The exact etiology is not known but it is speculated CBC to rule out leukemia.
Pediatric Considerations that chronic infection or immune stimulation can lead Follow-up lr special considerations
It is rare to find conjunctival lymphoma in children. to malignant degeneration of the chronic Repeat CBC as necessary.
inflammatory cells into lymphoma. Imaging
Pregnancy Considerations
No relationship to pregnancy. COMMONLY ASSOCIATED CONDITIONS Initial approach
Most conjunctival lymphoma is unassociated with Orbital magnetic resonance imaging (M Rl) is
EPIDEMIOLOGY systemic disease but the patient should be checked for preferred over computed tomography (CT) because
Prevalence immune deregulatory diseases like HIV, immune of superior soft tissue resolution.
In a large cohort of 1,643 patients with conjunctival suppression with medications, and autoimmune Evaluate for orbital invasion
tumors from the Wills Eye Institute Ocular Oncology conditions. Evaluate for systemic lymphoma and most
Service, the most common tumors included oncologists prefer yearly abdominal MRI and
melanocytic in 53%, epithelial in 11%, lymphoid in physical examination.
8%, and simulating conditions in 13%.
Follow-up lr special considerations
The 3 most common conjunctival malignancies
Repeat above testing annually for life because it may
include squamous cell carcinoma, lymphoma, and
be 30 years before systemic involvement is apparent.
melanoma.
Complete surgical excision is preferred if possible.
Cryotherapy to the surrounding margins is often
performed to ensure complete removal.
If the tumor is enwrapping anatomic sites then an
incisional biopsy would be preferred to protect the
normal tissue. This would be followed by therapy
with chemotherapy, monoclonal antibodies, or
radiotherapy.
202
CDNJUNCTlVAL LYMPHOMA
Pathological Findings SURGERY/OTHER PROCEDURES Ovl!fall, in patients who had no systemic lymphoma
There Is a range af findings from reactive lymphoid Complete excision Is warranted If the tumor Is not at presentation but only had conjunctival lymphoma,
hyperplasia, atypical lymphoid hyperplasia, to frank enwrapping normal anatomic structures. Otherwise, systemic lymphoma was eventually found In 7% at 1
malignant lymphoma. indsionaI biopsy is em played. yea~ 15% at s years, and 28% at 10 years.
- Reactive lymphoid hyperplasia is composed of The surgical approach depends on the location of In that group,<1% died of systemic lymphoma by
diffuse densely cellular polymorphous intiI!rate af the mass. If the mass is relatively small and involves approximately 3 years average follow-up.
small bland lymphocytes with reactive germinaI
centers.
only one quadrant of the 1!}'1!. then the mass can be
unroofed with elevation of the conjunctival COMPLICAnONS
Follow1 ng su rgety, the patient might have dysmatlllty,
c
-Atypical lymphoid hyperplasia is an indeterminate epithelium and the stromal mass carefully dissected
lesion witt! diffuse smaII lymphocytes with some blepharoptDSis, double vision, and loss af vision.
and removed. Surround cryotherapy is warranted.
illypia and no frank cytological malignancy. The spared epithelium is then reposited into normal
- ~m phoma shows malignant lymphocytes often position and closed with Vioyl. ADDITlONAL READING
witt! mitotic activity in monotonoos sheets af If the mass is large and involves multiple quad ~ants
tumor. on the surface of the eye then an lndslonal biopsy Is Shields CL, Shields JA, CaMiho C, et al.
DIFFEREN11A.L DIAGNOSIS performed with unroofing the tu mar and taking a Conjunctival lymphoid tumors: Clinical analysis of
Conjunctivitis biopsy and then repladng the roof down to the 1I 7 cases and relationship to systemic lymphoma.
Conjunctival allergy mnjunctival bed and suturing witt! VicryI sutures. Ophthalmology 2001 ;1 08:979-84.
Conjunctival melanoma Shields CL. Demlrcl H, Karatza E, et al. Clinical
survey of 1643 melanocytic and nonmelanocytic
Conjunctival squamous cell card noma $ ONGOING CARE tumors of the conjunctiva. Ophthalmology
Conjunctival amyloidosis 2004;111 :1747-54.
Conjunctival sarcoidosis FOLLOW-UP RECOMMENDATIONS
Conjunctival inspection of both eyes for recurrent Shields JA. Shields Cl. Eyelid, Conjunctival, and
lymphoma or new lymphoma Orbital Tumors. An iltJas and trxtbook, 2nd eel
Philadelphia: Lippincott Williams and Wilkins,
TREATMENT Orbital and systemic magnetic resonance imaging
2008:383-391.
for evaIuation of local orbital disease and to seardl
MEDICATION for systemic lymphoma
FimLine PiJtient Monitoring
Chemotherapy . CODES
Pat!em should be evaluated minimum twice yea~y by
Rituximab monoclonal antibody to CD 20 cells ophthalmologist or OOJ.Iar oncologist. ICD9
Many patients use antibiotics for 1 month even if 190.3 MaIignant neoplasm of conjunctiva
the above agents are used. PATIENT EDUCATION
www.fighteyecancer.com 200.50 Primal)' cent~al nervous system lymphoma,
Second Line www.e.yecancer. info unspecified site, extranodal and solid organ sites
Interferon alpha 2B injection is another alternative. www.eyetumor.org
ADDITlONAL TREATMENT www.eyecancemook.com
Cienelall'tfHSUIW www.etrf.org
CLINICAL PEARLS
Radiotherapy with external beam, stereotactic, www.choroidmelanoma.lllm If possible, complete resection of a conjunctivaI
CyberKn lfe. or other methods. The usual dose Is lymphoma should be attempted.
2,500 cGy-4,000 cGy. This malignancy is PROGNOSIS
The following resu Its were obtai ned from the Wills Systemic monitoring for life should be used for
radiosensitive and responds within 1-2 months of affected patients to rule out systemic lymphoma.
treatment. Eye Institute Ocular Oncology Service.
If the conjunctival lymphoma was unilateral, the risk
Additional Thetapiu for eventual systemic lymphoma was 17%.
Antlblatlcs using Prevpac (lansoprazole, amoxldllln, If the conjunctivallymphoma was bilateral, the risk.
clarithromycin) or doxycycline. lor eventual systemic lymphoma was 47%.
203
CONJUNCTIVAL MELANOMA
Carol L. Shields
Jerry A. Shields
~ BASICS
RISKFAOORS DIAGNOSTIC TESTS & INTERPRETATION
Conjunctival nevus-< 1% evolve into melanoma Lab
Conjunctival primary acquired melanosis (PAM)- Initial lab tests
DESCRIPTION 9-32% evolve into melanoma CBC.
Malignant tumor arising within the conjunctiva, the - If the PAM shows severe atypia, the risk for Follow-up It special considerations
mucous membrane that lines the surface of the eye transformation into melanoma is 13-90%. Slit-lamp examination essential
Classically pigmented but can be completely -The greater the extent of PAM, the greater the risk large detailed conjunctival drawing with high
nonpigmented and appear pink for melanoma. magnification
Has prominent blood vessels feeding the tumor and Genetics Note all areas of thickened tissue compatible with
within the tumor There is no single genetic abnormality commonly melanoma
Tends to occur in mid to older adults and grows expressed by conjunctival melanoma. Note all areas of precancerous primary acquired
slowly over many months or years It is anticipated that the genetic abnormalities found melanosis
Can be unifocal or multifocal with cutaneous melanoma and uveal melanoma Flip upper and lower eyelid to evaluate tarsal and
Painless, despite the eye appearing red and irritated might differ from conjunctival melanoma. forniceal conjunctiva
Often manifests surrounding flat conjunctival Palpate behind orbital rim for deeper nodules
pigment known as primary acquired melanosis that GENERAL PREVENTION
can predispose to future melanomas Several studies have implied that the risk for Imaging
conjunctival melanoma is increasing similar to Initial approadl
Can erode into the eye or grow deep in the orbit
cutaneous melanoma. These studies have suggested Photography of entire anterior segment of the eye,
Risk for metastasis and eventual death from this that sun exposure could be the cause, so avoidance of
cancer is approximately 25% including tarsal conjunctiva
excessive sun exposure could be a factor in prevention Anterior segment optical coherence tomography if
Patients with this malignancy should be managed at of this malignancy.
by physicians familiar with this disease intrascleral or intraocular extension considered
PATHOPHYSIOLOGY Magnetic resonance imaging if orbital extension
ALERT The development of conjunctival melanoma is considered
Any patient with a pigmented conjunctival mass multistep, multigenetic process. Follow-up It special considerations
should be evaluated by an ophthalmologist familiar ETIOLOGY Sentinel lymph node biopsy to ascertain metastasis to
with conjunctival tumors, particularly melanoma. Sunlight exposure has been postulated as a possible regional lymph nodes.
etiology. Diagnostic Procedures/Other
Geriatric Considerations Fine needle aspiration biopsy of lymph node if
Most patients with conjunctival melanoma are COMMONLY ASSOCIATED CONDITIONS
Lentigo maligna of the periocular cutaneous region. palpable
>60 years old. No need to needle biopsy conjunctival tumor as the
It is a flat pigmentation of the skin that carries 20%
Pediatric Considerations risk for the development of cutaneous melanoma. best treatment is complete resection.
< 1% of conjunctival melanomas occur in children. This condition is similar to conjunctival PAM that Do not perform incisional biopsy as this could seed
Pregnancy Considerations leads to conjunctival melanoma. Often the 2 the tumor.
Pregnancy has not been shown to affect outcome. conditions occur in the same region. Pathological Findings
Neurofibromatosis carries slight association. 4 types of atypical melanocytes within melanoma
EPIDEMIOLOGY include small polyhedral spindle, balloon, round
~ DIAGNOSIS
lnddence epithelioid cells with eosinophilic cytoplasm.
Race Growth in sheets or nests of cells deep to the
- 5 per 10 million white population epithelium within the substantia propria
- 1per 10 million black population HISTORY
Sex Painless brown mass on the eye that is slow growing. DIFFERENTIAL DIAGNOSIS
- 3 per 10 million female population PHYSICAL EXAM Conjunctival nevus
- 5 per 10 million male population Pigmented brown in 80% Conjunctival primary acquired melanosis
Age Nonpigmented pink in 20% Conjunctival racial melanosis
- 0.8 per 10 million <40 years old Can occur at all sites on conjunctiva including Conjunctival squamous cell carcinoma
- 4 per 10 million 40-59 years old limbus, bulbus. fornix, palpebrum, caruncle Oculodermal melanocytosis
- 18 per 10 million >60 years old Size can range from< 1 mm to huge, covering the Extraocular extension of uveal melanoma
Prevalence entire globe at 40 mm or more Conjunctival metastasis from cutaneous melanoma
This tumor predominantly occurs in the older Larger tumors have greater ris~ for intraocular. Ochronosis
Caucasian population. orbital, and lymphatic spread Conjunctival arygyrosis (silver staining)
Mass has smooth reflective surface with nodular
appearance and dilated feeder blood vessels
A wreath of dilated conjunctival vessels often
encircles the mass.
204
CDNJUNCTlVAL MELANOMA
Patlflnt Monitoring Shields JA. Shields Cl, Mashaye~i A. et al. Primary

. TREATMENT Ophtl1almlc examination with photographic acquired melanosis of the conjunctiva. Risks for
documentation at each visit progression to melanoma in 311 eyes. The 2006
MEDICATION Systemic evaluation for metastasis to lymph nodes, Lorenz E. Zi mmenman Lecture. Ophthalmology
Surgical excision is first line therapy. If medications are lung, and bra in 2008;115(3):51-19.
used, tl1ey only foii!PN surgery after complete heallng
PATIENT EDUCATION Shields CL. Shields JA, Gunduz K. et al. Conjunctival C
and might lndude topical mitomycin C. 5 fluorouracil, melanoma: Risk factors for recurrence, exenteration,
I.WIW.eyeancer.info
or interferon to resolve residual flat melanosis. metastasis, and death In 150 consecutlw patients.
I.WIW.eyetumor.org Arch Ophlhalmo/2000;118:1497-1507.
ADDITIONAL TREATMENT I.WIW.ftghleyecancer.com o Seregard S. Conjunctival melanoma. Surv
General Measui'8S I.WIW.eyecancerbook.com Ofillha/rool 1998;42:321-350.
Any patient with conjunctival p~mary acquired I.WIW.etrf.org
melanosis or nevus should be followed by a Yu GP, Hu DN, McConmic~ S, et al. Conjunctival
I.WIW.choroidmelanoma.mm melanoma: Is It Increasing In the Unlted StalEs? Am
competent aphtha lm olog ist tam iliar witl1 those
conditions as well as melanoma and understanding PROGNOSIS J Ofiltha/mo/2 003;135:800-6.
that those amditions muld lead to melanoma. Systemic - Metastasis oCilUrs in 16% by s years. Shields JA. Shields Cl, De Potter P. Surgical
If melanosis is extensive (> 2 cloc~ hours) or 26% by 10 years. and 32% by 15 years. management of mnjunctivaI tumors. The 1994 cynn
evoMng, then surgical resection, ayotherapy and o Ocular - melanoma recurrence or new tumor OCOlrs
B. McMahan Lecture. Arch Ophtha/mo/1997; 115:
alrohol epitheliectomy should be performed. in 26% by Syears. 51% by 10 years. and 65% by 808-15.
15 years. ExentEration Is necessary In 'lb by S years. Shields JA. Shields CL. Conjunctival melanocyt!c
SURGERY/OTHER PROCEDURES 16% by 10 years. and 32% by 15 years. lesions. In: Eyelid, Conjunctival, and Orbital Tumors.
The goaI of the no toudJ surgical tedJ nique is An atlas and textbook. Philadelphia: Lippincott
Visual- Following treatment. vision is 2012D-2 [JJ50
criticaI for complete exdsion, dean margins. and Wi Iliams and Wilkins Co, 2008:307-347.
in 70%, 20/6D-20f100 in 6%, and 20/200 or worse
avoidance of tumor shedding. Shields JA. Shields CL. Surgical management of
(lnduding exenteration) in approximately 24%.
There Is no role for lndslonal biopsy. conjunctival tumors. In: Eyelid, Conjunctival, and
Therapeutic stepS are listed below: COMPUCATIONS Orbital Tumors. An atlas and textbook. Philadelphia:
- Removal of mmeal compooent with mntrolled VIsion loss Lippincott Williams and Wilkins Co, 2008:437-445.
absolutE almhol application followed by careful Dry eye
exdsion of corneal epithelium o Surgical pterygium
-Removal of coojunctlval component w1th completE o Symblepharon . CODES
wide surgical resection using operating o l'tosis
microscope to achieve tumor free margins and Conjunctival scarrtng ICD9
witl1out toudJing or directly manipulating the
Diplopia 190.3 Mallgnant neoplasm of conjunctiva
tumor (no toudJ technique)
232. 1 Carcinoma In situ of eyelid, IncIudlng canthus
-Cryotherapy to all surrounding conjunctival
margins 372.5 5 Conjunctival pigmentations
ADDITIONAL READING
- Exdsion or ayutherapy to all surrounding primary
ac:q uired melanosis o Shields CL. Shields JA. Tumors of the mnjunctiva
- CIasure of tissue primarily or by using and mmea. SuN Ofillhalrool 2004;49:3-24. CLINICAL PEARLS
tnanspositional flap, free conjun elival graft, or Clrossniklaus HE, Green WR, Luckenbach M, et al. Any pigmented mnjunctival mass should be
amnIotic membrane transplantation Conjunctival lesions In adults: A clinical and examined by a qualified ophthalmologist for
- Plaque radiotherapy for intrasderal inwlvement histopathologic review. Cornea 1987;6:78-116. features of melanoma.
- OrbitaI exenteration for orbital involvement o Shields CL. Demirci H, Karatza EC, et al. Clinical
survey of 1643 melanocytic and nonmelanocytic
ONGOING CARE conjunctival tumors. Ophthalmology 2004;111 :
1747-1754.
FOLLOW-UP RECOM MENDAllONS Sh leias CL. Fasludden A. Mashayekhl A. et al.
Follow closely after surgery eo~ery 3 months and if Conjunctival nevi: Clinical features and natural
stable for 1year without reamence. then monitor murse in 41 0 conseo.Jtive patients. Arch
twice yearty. o,ntha/mo/2 004: 122:167-175.
If residual or recurrent melanoma, then surgical Folberg R, Mclean IW, Zimmerman LE. Primary
resection should be perfonmed. acquired melanosis of the conjunctiva. Hum Pathol
If residual or reo..trrent melanosis, t11en surglcaI 1985;16:136-143.
resection or cryotherapy should be performed.
205
CONJUNCTIVAL NEVUS
Britt J. Parvus
Carol L. Shields
Anterior segment optical coherence tomography.
HISTORY Pathological Findings
DESCRIPTION Diffuse infiltration or distinct nests of benign
Most common conjunctival tumor Patients may be asymptomatic (1 0%) or may report
noticing a "spot" on the eye (88%), inflammation melanocytes near the basal layer of the epithelium
Represents 28% of all conjunctival tumors and over
(3%), or rarely pain (<1 %) (1)[CJ. Most often classified as junctional (small nest of
50% of all melanocytic conjunctival tumors
melanocytes in ttle basal layer of the epittlelium),
Can be melanotic (~80%) or amelanotic (~20%) PHYSICAL EXAM compound (cell migration into ttle underlying
Can be congenital (present at birth or within the Usually presents as a discrete, variably pigmented, stroma), or subepithelial/deep (cell migration
first 6 months of life) or acquired slightly elevated conjunctival mass. entirely into the stroma)
If acquired, usually clinically visible by the first or The mass is within ttle conjunctiva and moves with Caveat: In general, the melanoma-specific antigen
second decade of life conjunctival displacement. (H MB-45) shows a positive reaction with
Can become more pigmented over time, especially Nevus typically occurs on the bulbar conjunctiva conjunctival nevus and melanoma and can therefore
during hormonal changes, such as puberty and (~ 70%), most commonly in the interpalpebral zone not be used reliably to differentiate the two
pregnancy (~85%) (1.1)[C]. conjunctival lesions.
Pediatric Considerations May be pigmented (51%), partially pigmented
(28%), or completely amelanotic (21 %) (2)[C]. DIFFERENTIAL DIAGNOSIS
An increase in size may be seen in young children. Primary acquired melanosis
Increased pigmentation may be seen during puberty. Multiple, intralesional clear cysts can be seen on
slitlamp biomicroscopy (1,2)[C]. Racial melanosis
Pregnancy Considerations If located on the bulbar conjunctiva, conjunctival Secondary melanosis
Increased pigmentation may be seen during pregnancy nevi typically abruptly stop at the limbus and do not Malignant melanoma (melanotic & amelanotic)
in cutaneous nevi, but this has not been well involve the cornea (1)[C]. If amelanotic
documented in conjunctival nevi. In the bulbar conjunctiva, temporal (46%) or nasal - Inflamed pinguecula
(44%) location is more common than superior (6%) - Conjunctival cyst
EPIDEMIOLOGY -Allergic conjunctivitis
or inferior (%5) location (1)]C].
Occurrence is most common in Caucasians (89%); less - Foreign body granuloma
frequently seen in African Americans (6%) and Asians. DIAGNOSTIC TESTS & INTERPRETATION - Episcleritis
Hispanics. or Indians (5%). Imaging - Squamous epithelial neoplasia
RISK FACTORS Initial approach -Papilloma
Ethnicity: Non-Hispanic whites. Slit-lamp photography -lymphoma
Anterior segment optical coherence tomography to - lymphangioma
GENERAL PREVENTION document cysts
Most conjunctival nevi occur at the nasal and temporal
Follow-up Ill special considerations
limbus in the sun exposed regions of the eye.
Serial photography every 6-12 months to rule out
Avoidance of sun exposure might reduce conjunctival
growth/malignant transformation.
nevus development. but more importantly, avoidance
of sun exposure might reduce transformation of
conjunctival nevus into melanoma.
Generally sporadic without systemic associations
Rare association with the Carney complex and the
dysplastic nevus syndrome
206
CONJUNCTIVAL NEVUS
ADDI110NAL READING
Shields CL. Demirci H, Ekaterina K, et al. Clinical
MEDICATION FOLLOW-UP RECOMMENDATIONS survey of 1643 melanocytlc and nonmelanocytlc
None avai!able Annual ophthalmologic examinations if lesion is conjunctival tumors. Ophthalmology 2004;111:
typical and nonsuspicious in appeara nee. 1747-1754.
General Measures htient NlonitDring Shields JA. Shields CL. Tumors of the conjunctiva. In C
Slit-lamp photography and anterlor segment optical Eyelid, ronjundival, and osbital tumors: an atlas and
Initial management for a small, typical conjunctival coherence tomography every 6-12 momhs to manltor textbook. Philadelphia: Lippincott Williams Be
news is periodic observation with photographic WiIkins, 2008:308-319.
stability.
documentation (2)!C]. www:fighteyecancer.com
Issues for Refetral DIET
www.eyecancerinfo.com
Any diagnostic uncertainty No dietary restrictions.
www.malignantrnelanornainfo.com
When surgical excision is Cllf15idered PATIENT EDUCATION www.etrf.org
See related websites.
Exdsional biopsy using the no toud1 technique Avoid excessive sun exposure.
wt1ereby the tumor Is never manlpuliled should be PROGNOSIS . CODES
used. lhls Is approached using a dry ocular surface Excellent in most cases.
without balanced saIt solution. The cornea is dried ICD9
and absolute alcohol on a Week sponge is precise~ COMPUCATIONS 190.3 Malignant neoplasm of conjunctiva
applied to the limbus immediately adjacent to the Irritation and/or dry eye oa:ilsionally seen after
exdsionaI biopsy. 224.0 Benign neoplasm of eyeball, except
nevus without spillage to other sites. The corneal conjunctiva.. cornea, retina, and d1orold
eplthe llum Is removed. The conjunctival mass Is 224.3 Benign neoplasm of conjunctiva
removed with Westcott scissors and a J-.1 mm REFERENCES
margin. After removaI, cryotherapy is applied to the
remaining conjunctival margins. Closure is done 1. Shields CL. Fllsiudden A. Mashayekhi A. et al. CLINICAL PEARLS
with absorbable sutures. Conjunctival nevi: Clinical features and natural
Consider complete excisional biopsy if course in 410 consecutive patients. Arch Locations in the lomiceal conjunctiva, tarsal/
- Suspicious manges Ophtha/mol 2004;122:167-175. palpebral conjunctiva, or cornea should raise
- Documented growth 2. Levecq L, De Potter P, Jam art J. Conjunctival nevi: suspidon that the lesion is an early conjunclival
-Location in the fomiceal or tarsal conjunctiva Clinical features and therapeutic outcomes. melanoma (1,2)!C].
- Umballocation with corneal involvement Ophthalmology 201 0;117:35-40. ConjunctivaI nevi may exhibit mlnor gradual changes
- Feeder vessels in pigmentation (7-13%) and size {S-8%) (1,2)[C].
- Intrinsic vessels
- Larger lesion without cysts
- Family history of conjunctival or cutaneous
melanoma
-Distinct onset in middle age or liter life
- Recurrence of a previously excised lesion
- Ocular lrrltatlon
- Cosmetic concern
- Cancerophobia
In general, incisional biopsies are contra indicated in
lesions that can be resected entirely in one
pt"ocedure.
None required
0 utpatient surgery and management
207
CONJUNCTIVAL PRIMARY ACQUIRED MElANOSIS
Carol L. Shields
Jerry A. Shields
Imaging
Initial approach
For PAM alone, anterior segment optical coherence
DESCRIPTION HISTORY tomography might be beneficial to demonstrate the
Primary acquired melanosis (PAM) is an acquired flat Most patients note an area of pigmentation that lack. of deep involvement.
pigmentation of the conjunctiva. slowly evolves and grows over time.
Follow-up & special considerations
Slowly progressive Based on an analysis of 311 eyes with PAM by
If there is conversion to melanoma then imaging with
Generally without excessive vascularity Shields and associates, the patient demographics
MRl is warranted.
include:
Can affect the limbus. bulbar, forniceal, plical, Diagnostic Procedures/Other
- Female in 44%, male in 38%
caruncular, and tarsal conjunctiva Some authorities prefer no manipulation of the
- Caucasian in 96%, African American in 1%,
Unilateral and nonhereditary Hispanic in 2%, and Asian in < 1% conjunctiva prior to surgical treatment in the
Risk for development of conjunctival melanoma - Unilateral in 87%, bilateral in 13% operating room.
- Eye color brown in 58%, blue in 35%, green in Other authorities wish to have superficial scraping of
ALERT the conjunctival for cytologic documentation.
5%
Any patient with a new onset flat pigmented
- Mean patient age 56 years (range 15-90) Pathological Findings
conjunctival lesion should be examined to evaluate
Patient symptoms include: Pathology reveals 2 basic types of PAM, those
for primary acquired melanosis, a known precursor
- Spot stable on eye in 29% without atypia and those with atypia.
to melanoma. -Spot growing on eye in 16% PAM without atypia is defined as pigmentation of
Geriatric Considerations - Ocular redness in 1% the conjunctival epithelium, usually the basal layer,
Generally a disease of middle aged or older individuals. - No symptom in 55% with benign melanocytic hyperplasia.
Pediatric Considerations PHYSICAL EXAM PAM with atypia is defined as the presence of
This condition is rarely found in children. Ocular examination, based on analysis of 311 eyes atypical melanocytic hyperplasia in a mild,
shows: moderate, or severe form with gradually extension
Pregnancy Considerations Number (mean) of PAM per eye 2 (1-7) from the basal portion of the epithelium to the more
This condition is rarely seen during pregnancy. superficial portion in a pagetoid fashion.
Quadrant location superior in 37%, temporal in
RISK FACTORS 57%, inferior in 45%, nasal in 42% DIFFERENTIAL DIAGNOSIS
None clearly identified but patients at highest risk are Anatomic location of PAM in cornea in 23%, limbal Racial melanosis (also referred to as complexion
those of: conjunctiva in 55%, fornix in 13%, palpebra in related melanosis)
Caucasian race 12%, caruncle in 11% Conjunctival nevus
Older age Extent (mean) of PAM in clock hours of 3 Conjunctival melanoma
Excessive sunlight exposure DIAGNOSTIC TESTS It INTERPRETATION Secondary conjunctival pigmentation from
GENERAL PREVENTION Lab medications (argyrosis), exposure. trauma (shrapnel
Avoid excess sunlight exposure. Initial lab tests injury)
PATHOPHYSIOLOGY
Begins as a flat area of pigmentation on the
conjunctival surface. Histopathology shows it arising
in the basal epithelial layers. As it progresses. the
None other than ocular exam
If there is associated melanoma then the patient
should have lymph node evaluation and chest x-ray.
rJ TREATMENT
MEDICATION
atypical cells involve the mid portion and then Careful follow-up is warranted for evolution of PAM First Line
superficial portion of the conjunctival epithelium. into melanoma. Based on clinical studies, untreated First line therapy for PAM requires biopsy proof of
With time, the anaplastic cells can grow through the PAM evolves into melanoma in 0% of those with the condition. Our first choice is to biopsy and
basement membrane into the stroma and be minimal or no atypia and 13% of those with severe provide CI)'Otherapy to all sites of pigmentation. If
classified then as microscopically invasive atypia. Based on pathology studies. PAM evolves into the PAM is completely resectable, then that would
melanoma. melanoma in 0% of those with no atypia, 46% if any be our first choice. Closure of all wounds is advised
Slowly and progressively enlarging pigmented atypia, and 75--90% of those with severe atypia. following therapy.
conjunctival tumor Regarding medications, Mitomycin C(MMC) 0.02%
or 0.04% can be given 4 times daily for 1-2 weeks
COMMONLY ASSOCIATED CONDITIONS then 1-2 weeks of drop-free recovery. This can be
Lentigo maligna of eyelid skin that carries a 20% risk repeated as need be. MM Ccan effectively reduce
for cutaneous melanoma. the pigmentation and can be used as a primary or
adjuvant therapy.
5 Fluorouracil and interferon have been used to
treat PAM.
208
CONJUNCTIVAL PRIMARY ACQUIRED MELANOSIS
SecandUne Folberg R. Mclean IW, Primary acquired melanosis

If there is extensive PAM with multiple recurrences, ONGOING CARE and melanoma of the conjunctiva: Terminology,
consideration for atstom fit plaque radiotherapy In a dassification, and biologic behavior. Hum Patho/
confonner design can ef!Ktively treat the entire FOLLOW-UP RECOMMENDATIONS 1!1116;76:307-8.
surface of the Pfe in a fairly homogeneous fashion. Return visits initially every 3-4 months and after Shields JA. Shields CL Eyelid, Conjunctival and
stability dorumented, then every 6 momhs for life.. 0/bita/ tumors: An atlas and text, 2nd ed.
I
Patient Monitoring Phi ladelphia: Lippincott. Williams and Wilkins, 2008.
General Measures
Topical lubricants are given to help heal the O(Uiar Monitor the oatlar surface for PAM using slit-lamp
biomicroscopy. Q See Also <Topic, Algorithm, Electronic
surface following surgery, cryotl1 erapy, or topical
chemotherapy. PATIENT EDUCATION ~ Mlldil Element)
Issues for Refetral If the patient notices recurrent pigmentation, then
return visit Is j ustlfled. WNW.fighteyecancer.com
All patients with PAM should be managed by WNW.eyecancer.info
consultants familiar with this condition as this PROGNOSIS
precancerous disease carries a strong risk for WNW.eyet:umor.org
Excellent if there is no transformation into melanoma WNW.eyecancerbook.com
life-threatening melanoma. Guarded if there is transformation into melanoma
WNW.etrf.org
SURGERY/OTliER PROCEDURES COMPLICATIONS WNW.choroldmelanoma.com
o Surgery is usually the main initial procedure for Dryeye
PAM. The treatment strategy depends on the extent Symblepharon
of tumor and the presence or history of previous Blepharoptosis . CODES
melanoma. Patients are disdlarged the same day
following therapy. Diplopia
Llmbal stem cell loss ICD9
o If PAM Is <1 dock hour. Its significance remains
Conjunctival overgrowth onto mmea 190.3 Malignant neoplasm of conjunctiva
debatable and most would observe it.
Chronic pain 372.55 Conjunctival pigmentations
PAM is 4-5 clock hours or less, consideration is
given for complete resection followed by Loss of the eye
ayotherapy of the remaining conjunctival margins CLINICAL PEARLS
and closure with absorbable sutures.
If PAM Is > 5 dock hou~ then wide resection of the
ADDinONAL READING Any patient with PAM of more than 1 cloclc hour
suspidous areas is performed with heavy double Shields JA. Shields CL.. Mashayekhi A. et al. Primary should have consultation by an experienced
freeze thaw cryotherapy to all residual areas of acquired melanosis of the conjunctiva. Risks for examiner.
pigmentation. This can be used for PAM involving progression to melanoma in 311 eyes. The 2006 If a patient with previous skin or conjunctival
the entl re ocular surface, except the cornea. Lorenz E. Zimmerman l.l!cture. Ophthalmology melanoma shows evidence of PAM, then eradication
o If mmea PAM, then epithelial removal following 2008;115(3):511-519. of PAM is warTanted.
!Dpical absolute alcohol with microscopic Shields CL. Shields JA. ConjunctivaI primary acquired
monltorlng Is performed. melanosis and melanoma. Tales. fairy tales and facts.
o If recurrent extensive PAM, then topica I MMC is Ophtha/ Plast Reconstr Surg 2009;25:167-72.
considered.
o If there is a history of mnj unctival or atlllneous
melanoma, then complete treatment is encouraged
to the paint that the patient shows no conjunctival
pigmentation at all.
209
CONJUNCTIVITIS, ACUTE BACTERIAL
Robert Sambursky
~ BASICS ETIOLOGY
Acute bacterial conjunctivitis:
-Staphylococcus aureus, Haemophi/us influenzae,
PHYSICAL EXAM
Palpebral papillary reaction
Follicles develop with Ch/amjdia.
DESCRIPTION Streptococcus pneumonia, Moraxe/la catarrha/is, Only 10% have associated a preauricular
Acute conjunctivitis defines an inflammation ofthe Staphylococcus epidermidis: lymphadenopathy.
conjunctiva, or the mucous membrane lining the inner o H. influenzae and S. pneumonia are most Moraxella species, Chlamjdia, and N. gonorrhea
surface of the eyelids and the outer surface of the common in children.
eyeball extending over the sclera. Bacterial o S. aureus are most common in adults. DIAGNOSTIC TESTS & INTERPRETATION
conjunctivitis is a very common condition. Hyperacute bacterial conjunctivitis: Lab
EPIDEMIOLOGY - Neisseria gonorrhea Initial lab tests
Affects both children and adults of all ages Chronic bacterial conjunctivitis: Cell culture:
-Ch/amjdia - Gold Standard ; Not routinely performed
No sex predominance
- Blood agar and chocolate agar
Incidence COMMONLY ASSOCIATED CONDITIONS - Recommended for patients not responding to
Acute conjunctivitis comprises about 1-2% of a Otitis media: therapy, immune compromised patients. contact
primary care office visits. -Frequently caused by H. influenzae lens wearers. in the setting of an outbreak, sexual
1 in 8 schoolchildren has an episode of acute active person with copious discharge
infective conjunctivitis every year.
There are approximately 6 million cases of
~ DIAGNOSIS - Copious discharge suggests N. gonorrhea;
requires culture on chocolate agar.
conjunctivitis annually.
There is considerable overlap in clinical signs and Gram stain (1-S)[AI:
Prevalence symptoms between viral and bacterial conjunctivitis; - Copious discharge suggests N. gonorrhea;
Bacteria are responsible for about SD-75% of all clinical accuracy of 50%. Four clinical factors were intracellular diplococci are suggestive.
cases of acute conjunctivitis in young children. independently associated with negative cultures: 1) Polymerase chain reaction:
RISK FACTORS age ~6 years, 2) presentation during April through - Usually a send-out test; expensive
Bacterial conjunctivitis occurs in otherwise healthy November, 3) watery or no discharge, 4) no glued eye - Not FDA cleared
individuals. in the morning. A child who presented with all four -Available for confirmation of Ch/amjdia and
Risk factors include exposure to infected individuals, clinical factors would have a negative culture 92% of N. gonorrhea
sinusitis, and immunodeficiency states. the time, whereas a child who presented with none of
these factors would have a negative culture 12% of
Genetics the time (2)[BJ. Follow-up in 5-7 days
No genetic predisposition 70% of patients with confinmed ocular chlamydia
HISTORY have a coexistent chlamydia genital infection.
GENERAL PREVENTION More commonly associated with a bilateral > Follow-up should be in 5-7 days. N. gonorrhea
Isolation of contagious patients for 24-48 h after unilateral red eye needs daily follow-up in the first 3 days.
initiation of antibiotic therapy Eyelash matting - High risk of corneal ulceration with perforation
PATHOPHYSIOLOGY Purulent yellow-green discharge
Inflammation of the conjunctiva, or the mucous Copious discharge associated with hyperacute Immunoassay to rule out adenovirus
membrane lining the inner surface of the eyelids, and bacterial conjunctivitis
outer surface of the eyeball extending over the sclera History of sexual activity associated with hyperacute DIFFERENTIAL DIAGNOSIS
and chronic conjunctivitis Acute viral conjunctivitis (HSV and adenovirus),
Exposure to a sick contact allergic conjunctivitis. episcleritis/scleritis, blepharitis,
infectious or inflammatory keratitis, uveitis, and angle
closure glaucoma
210
CONJUNCTIVITIS, ACUTE BACTERIAL
SeCDIId Une ADDITIONAL READING

. TREATMENT Azltl1romycln I drop twice dally for 2 days and then
I
once daily for 3 additional days O'B~en TP, Jeng BH, McDonald M, et al. Acute
MEDICATION Older generation medications suffer from high rates mnjunctivitis: Truth and misconceptions. Curr Med
of antibiotic resista nee. Res Opin 2009;25:1953-1961.
A meta-analysis of antibiotics versus placebo fur HBvd lng G. Arute bacterlal coo]unctlvltls. Ada
acute bacterial mnjunctivitis was published in a Medications such as topical Tobramycin and
Cochrane review in 2006. 5 randomized trials Gentamydn may be associated with mrneal toxicity. Ophthalmo/20Da;86:5-17.
Other antibiotics such as Sulfa and Neomycin are Meltzer JA. Kun law S, Crain EF. Identifying children
lndudlng a total of I 034 pa nlclpants were
analyzed and it was determined that clinical associated with Increased rates of allergic reactions at low risk for bacterial conjunctivitis. Arch Pedlatr
reciiVt!ry with antibiotics was faster in the first and should be avoided. Ado/esc Med 201 0; 164:263-267.
2-5 days after presentation (relative ~sk of cllnlcaI Oliver GF, Wilson GA, Evens RJ. Acute infective
C\lre 1.24; 6 patients needed treatment in order to conjunctivitis: evidence review and management
Genet"al Measures advice for New Zealand practitioners. NZ Med1
achif't'l! one more clinical cure than with placebo) Supportive care:
(1,3)[A]. 2009;122:69-75.
- Refrigerated preservative-free artifidal tears Tarabishy AB, Jeng BH. Bacterial mnjunctivitis: A
6-1 0 days after presentation the benefit of - Frequent hand washing
antibiotics was less (relative risk of eli nicaI cure review for internists. Cleve Clin 1 Med 20011;75:
- Limit sharing of towels and linens 507-512.
1.1 1; 13 patients needed treatment) (1,3)[A].
Issues for Referral American Academy of Ophthalmology. Conjunctivitis
The benefit of topical antibiotics versus placebo was Severe ~ paln or headache, photophobia,
greater on microbiological cure than on dinical cure. Preferred Practice Patterns 2008.
decreased vision acuity, trauma.. or contact lens use
At 2-5 days after presentation the relative risk of
microbiological cure was 1.77; at 6 to 10 days the Mid-dilated fixed pupil, hazy mrnea
relative risk was 1.56 (1,3)]A]. No improvement after 7 days of antibiotic treatment f; coDES
Delayed therapy for 3 days is an option but forces ICD9
Isolation of contagious persons. ONGOING CARE 372.00 Acute conju ndivitis, unspecified
FlrstUne FOLLOW-UP RECOMMENDATIONS 372.03 Otl1er mucopurulent conjunctivitis
Acute bacterial conjunctivitis: 372.30 Conjunctivitis. unspecified
Follow-up is recommended for patients who develop
- Polytrlm 1 drop every ~ h for 7 days reduced vision, pain, light sensitivity or if symptoms
- Fl uoroquinolone 1 drap every 4-6 h for 7 days persist beyond 7 days.
o i.e., moxilloxacin, gatifloxacinlevofloxacin, CLINICAL PEARLS
besifloxacin PATIENT EDUCATION
Hyperacute bacteriaI conjunctivitis: Educate patients on contagiousness. Consider more serious eye disease if there is a
- Ceftriaxone 1 g intramuscula~y (i.m.) in a single PROGNOSIS unilateral red~. reduced visual acuity, severe pain,
dose for presumed N. gonorrhea Self-limiting; most patients recover spontaneously. significant photophobia, contact lens wear, or recent
- If comeal involvement exists, treat with ocular surgery or trauma. Purulent discharge Is
celtriaxone 1 g intravenously (i.v.) every 12-24 h COMPLICATIONS assodated with bacterial conjunctivitis.
-Topical fluoroquinolone q.i.d. widlout corneal Complications are rare. Negative cultures are associated with: 1) age
Involvement and q1-2h w1th corneal Involvement ~6 years, 2) presentation during Ap~l tl1rough
-In penidllin-allergic patients, consider an oral NDV!!mber, 3) watery or no discharge, and 4) no
fluoroqui nolone (e.g. ciprofloxadn 500 mg p.o. glued~ in the morning.
forS days. Antibiotic treatment of bacterial conjunctMtls
reduces the duration of dinical illness by
05-1.5 days and hastens microbiologicaI cure.
211
CONJUNCTIVITIS, ACUTE VIRAL
Robert Sambursky
Inflammation of the conjunctiva, or the mucous
membrane lining the inner surface ofthe eyelids, and
~ DIAGNOSIS
DESCRIPTION outer surface of the eyeball extending over the sclera HISTORY
Acute conjunctivitis defines an inflammation ofthe More commonly associated with a bilateral red eye
conjunctiva, or the mucous membrane lining the inner ETIOLOGY Starts in one eye and then moves to the other
surface of the eyelids and outer surface of the eyeball Viral conjunctivitis represents 2D-70% of all acute several days later
extending over the sclera. Viral conjunctivitis is a very conjunctivitis.
Watery to mucoid discharge
common condition and adenovirus is the most -Adenovirus accounts for 65-90% of viral
conjunctivitis. Recent upper respiratory symptoms
frequent cause of conjunctivitis worldwide. Exposure to a sick contact
o Presents as 1 of 4 clinical conditions: Epidemic
EPIDEMIOLOGY ~ratoconjunctivitis (EKC), acute hemorrhagic PHYSICAL EXAM
Affects both children and adults of all ages conjunctivitis (AHC), pharyngoconjunctival fever Injection
No sex predominance (PCF), and nonspecific follicular conjunctivitis Palpebral follicular reaction
Incidence (NFC) Microhemorrhages
Acute conjunctivitis comprises about 1-2% of a -Herpes simplex virus (HSV) accounts for 1.3-21%
Pseudomembranes
primary care office visits. of viral conjunctivitis.
o These cases occur without associated sk.in
Superficial punctuate keratopathy
There are approximately 6 million cases of Subepithelial infiltrates:
vesicles or ~ratitis.
conjunctivitis annually. - Only occurs after 7-1 0 days
- Other less common viruses include Molluscum
Prevalence contagiosum, varicella-zoster virus (VN), Pre-auricular lymphadenopathy:
2D-70% of acute conjunctivitis is viral. coxsackie virus, enterovirus. echovirus. - Only present in 3D-50%
RISK FACTORS Epstein-Barr virus, human immunodeficiency virus. DIAGNOSTIC TESTS & INTERPRETATION
and cytomegalovirus.
< 5% of the US population shows natural immunity Lab
against adenovirus. COMMONLY ASSOCIATED CONDITIONS
Point of care immunoassay for adenovirus with a
Adenovirus can live on inanimate surfaces for Adenovirus may be associated with viral prodrome
sensitivity of 88-89% and a specificity of 91-94%
5 weeks: followed by adenopathy, fever, pharyngitis, or an
(1)1A]:
- Overcrowding or close quarters upper respiratory tract infection.
- Urban setting HSV and VZV may be associated with a vesicular - 10 min in office test
- Exposure to a sic~ contact skin rash and/or ~ratitis. - Detects viable and nonviable virus fragments
-Antigen levels diminish after 7 days
Genetics
No genetic predisposition Viral cell culture (3)[A]:
GENERAL PREVENTION - May take 3-21 days to grow
Isolation of contagious patients: - Gold Standard
- Adenoviral conjunctivitis shows close contact and - Only detects live virus
intrafamilial spread of 2D-40%. Polymerase chain reaction (3)[A]:
- Usually a send-out test; expensive
- Not FDA cleared
- Detects both viable and nonviable viral fragments
Serological tests for HSV lgM and lgG
Acute bacterial conjunctivitis, allergic conjunctivitis,
episcleritislscleritis. blepharitis, dry eyes. infectious or
inflammatory ~ratitis, uveitis, and angle closure
glaucoma
212
CONJUNimVITIS, ACUTE VIRAL
o Rietveld RP, van Weert HC, ter Riel G, et al.

. TREATMENT ONGOING CARE Dlagnostk lmpatt of slg ns and symptoms In acute
I
infectious oonjunctiYitis: Systematic litetature search
MEDICATION FOLLOW-UP RECOMMENDATIONS BMJ 2003;327:789.
FirstUne Follow-up is reoommended for patients who develop o O'Brien lP, Jeng BH, McDonald M, et al. Acute
o Adenoviral oonjunctiYitis has no FDA approved
reduced vision, light sensitivity, or If symptoms persist conjunctivitis: 1ruth and misconceptions. Curr Med
arrtMral agents. beyond 10 days. Res Opin 2009;25:1953-1961.
- Refrigerated preservative-free artlflclal tears every PATIENT EDUCATION o Colin J_ Ganciclovir ophthalmic gel, 0.15%: A
2h Educate patients on extreme oontaglousness. valuable tool for treating ocular herpes. QJn
-Topical antihistamines twice daily for significant o Educate patients on the ineffectiveness a! topical O,ntha/mo/2007;1 :441-453.
itching antibiotics.
-Topical ganciclovir gel:
PROGNOSIS
o Small, randomized, oontrolled, masked series
o Most patients recover spontaneously. . CODES
of 18 patients showed dea eased duration of
o 2D-50% at patients with EICC develop SEIs or
disease (4)[A]. ICD9
ctuonlc dry eyes.
o HSV should be treated with topical a111MraJ: o 077.3 Other adenaviral oonjunctiYitis
COMPLICATIONS 077.99 Unspecified diseases of conjunctiva due to
-Topical gandciOYir gel 0.15% 5 times per day o Corneal subepithelial infiltrates (inflammatory viruses
(4)[8] deposits) o 372.00 Acute conjunctivitis, unspecified
- Trifluridine 1"/o (Viroptic) drops 5 times per day o Chronic dry eye
(4)[8[
o Conjunctival scarring
S<tJd Une Chronic epiphora (tearing) CLINICAL PEARLS
o Topical steroids may be considered in the presence
of pseudomembranes or subepitheliaI infiltrates. o A SO% clinical accuracy was found oompared to
- Steroids should be avoided exoept In severe ADDinONAL READING laboratory diagnosis.
disease because a! associated in creased viral HSV may present with EKC that is indistinguishable
replication and prolonged infectivity. o American Academy of OphthaImolagy. Conjunr.tivitis from adenovirus.
o Consider Ioteprednol twice to 4 times daily or a Preferred Practice Patterns. 2006.
steroid ointment such as fluorometholone 0.1% o Udeh BL, Schneider JE, Ohsfeldt RL. Cost
or dexamethasonellobramydn 4 times daily. l!!fectiveness a! a point-<!1-care test for adenoviral
oonjunctiYitis. Am J Med Sd 2008;336:254-264.
ADDITIONAL TllEATMENT
Sambursky R, Tauber S, Schirra F, et al. The RPS
General Measures adena detector for diagnosing adenavi raJ
o Supportive care:
oonjunctiYitis. Ophthalmology 2006;113:
- Refrigerated preservative-free artifkial tears 1753-1764.
- Frequent hand washing
-Limit sharing a! towels and linens
- Home disinfection
Issues far Referral
o After 7-1 0 days patients may develop subepithelial
infiltrates (oomeal deposits).
- Manifest as reduced vision or photosensitivity
Addltl011al Therapies
Analytical laboratory studies and anecdotal support
for povidone iodine therapy exist
213
CONTACT LENS COMPLICATIONS
Brett Levinson

Use of a contact lens with a low permeability for
oxygen (Dk), especially if worn continuously
ETIOLOGY
Contact lens overuse and misuse
Improper cleaning of contact lenses
DESCRIPTION Improper storage and disinfection of contact lenses Toxicity from multipurpose solutions
Complications from contact lens use can occur in any Exposure to fresh water lakes and streams, or tap Inadequate disinfection of contacts from
patient who wears contact lenses. Problems water (especially well water) multipurpose solutions
associated with contact lens use include infection Dry eyes
(most commonly bacterial but rarely fungal or COMMONLY ASSOCIATED CONDITIONS
amoebal), allergic, overwear (corneal hypoxia and Atopy Dry eye
neovascularization), toxicity (from multipurpose Use of an MPS Blepharitis
cleaning solutions or improper use of hydrogen -Solutions which are intended to clean, disinfect,
Atopy
peroxide solutions), and corneal warpage (seen most and store contacts are considered multipurpose
solutions. Recent outbreaks of infectious keratitis
~ DIAGNOSIS
commonly with rigid gas permeable lenses).
have highlighted the fact that many contact lens
ALERT wears improperly use their MPS, increasing the
While rare. always ask about exposure to fresh risk of infection. HISTORY
water from lakes or streams while wearing contacts, -Also, as these solutions are designed to be History of contact lens use, especially with planned
or cleaning contacts with tap water (especially from antimicrobial, they can cause toxicity to the replacement lenses (lenses worn for more than
wells) as this is a risk factor for Acanthamaeba corneal epithelium. This problem is more 1 day at a time)
keratitis. pronounced in people with risk factors for dry eyes. History of multipurpose solution use
GENERAL PREVENTION Red, painful eyes
Pediatric Considerations Avoidance of overnight and extended wear of Photophobia
Teenagers are prone to improper use of contact lenses, contact lenses Conjunctival discharge (often clear and intermittent)
including wearing contacts for extended periods of Following the manufacturers' recommended History of frequent "eye infections"
time, not changing contacts as directed, and wearing replacement, schedule for the particular contact - Patients with a history of contact lens overwear
their contacts despite having red or painful eyes. lenses often report a history of frequent red eyes,
EPIDEMIOLOGY Use of daily disposable contact lenses (contacts previously diagnosed or believed to be infections,
Complications more commonly occur in patients who designed to be worn once and then disposed) but often represent a contact lenses-related
improperly dean or store their contacts. or who wear Avoidance of multipurpose solutions: condition
contacts with a low-oxygen permeability (Die), or wear - If multipurpose solutions are used, rub contact - Severe pain out of proportion to clinical findings
contact lenses overnight and/or for many days lenses with a solution prior to storage. Do not should raise suspicion for Acanthamoeba.
continuously. "top off" the solution in the contact lens case - PHYSICAL EXAM
dispose the old solution in the contact lens case Bacterial infection:
Incidence
and use a new solution from the bottle. Change - Dense, white corneal infiltrate with overlying
Incidence of bacterial keratitis is estimated to be
the contact lens cases frequently. epithelial defect
between 0.04 and 0.21%. The incidence is much
higher in patients wearing contact lenses overnight Use of hydrogen peroxide disinfection systems - Corneal edema surrounding infiltrate
and for extended periods of time without changing decreases the risk of complication by providing - Conjunctival redness
their lenses. better disinfection of the contacts. and having less - Inflammation in anterior chamber (cell and flare
residual toxicity than multipurpose solutions (after seen in slit lamp)
Fungal and amoebal keratitis are rare, but rates can
complete neutralization of the hydrogen peroxide - layered white blood cells (hypopyon) may be seen
be higher when associated with epidemic outbreaks
solution). in the anterior chamber
from contaminated water or from contact lens
- Hydrogen peroxide solutions can never be placed Fungal infections:
solutions.
directly in the eye; otherwise a severe toxic - Fluffy" corneal infiltrate, often with multiple,
Incidence of giant papillary conjunctivitis (GPC) keratitis will occur.
varies based on the types of lens, but has been smaller, "satellite lesions
- Use of 1-day disposable contacts reduces the - May or may not have an associated epithelial
reported at 4.6% for silicone hydrogel lenses. overall risk of contact lens complications defect
Prevalence Amoebal infections:
PATHOPHYSIOLOGY
As most contact lens problems are acute, prevalence Contact lenses can decrease the transmission of - Diffuse epithelial irregularity and edema
generally equals incidence. -Visible corneal nerves (radial keratoneuritis)
oxygen to the ocular surface, leading to hypoxia,
ALERT neovascularization, and conjunctivalization of the - Ring-shaped corneal infiltrate- this is a late sign.
There have been 2 major outbreaks of infectious cornea. Contact lens overwear:
keratitis related to multipurpose solutions (MPS). Improperly cleaned contact lenses can increase the - Conjunctival redness
ReNu with Moistureloc was linked to fungal risk of infection. - Diffuse punctate keratitis
(Fusarium) keratitis, and Complete was lin ked to Toxicity from multipurpose solutions can damage - May have subepithelial infiltrates - fine, white
the epithelial cells of the cornea, causing a keratitis. opacities in the anterior stroma with negative
Acanthamoebal keratitis. The incidence of infectious
GPC is an immune reaction in the tarsal conjunctiva fluorescein staining
keratitis can increase sporadically, and practitioners
to the contact lens material, or to deposit on the - May have corneal neovascularization, old stromal
should be aware if an outbreak of infectious scars, and other signs of previous episodes of
keratitis has been reported. contact lens material, or a combination of both.
contact lens overwear
Multipurpose solution toxicity (or use of
nonneutralized hydrogen peroxide solution):
- Diffuse punctate keratitis
Giant papillary conjunctivitis:
- large papillae on the tarsal conjunctiva (seen with
upper lid eversion)
- Conjunctival hyperemia
214
CONTACT LENS COMPLICATIONS
DIAGNOSnC TESTS & INTERPRETAnON ADDmONAL TREATMENT PROGNOSIS

Imaging Genel'fllllleesui9S Good for most problems from contact lens overwear
Corneal topography can be used to diagnose and The use of 1-(fay disposable contact lenses Is often Good for most small and peripheral corneal
monitor corneal warpage. very effeclive in the treatment for GPC. infections
SpeaJIar micrnsmpy can be usefuI to see - A brief cessation of contact lens use is also often CentraL large corneal infl!ctions can cause
intra51romal amoebaI cysts. beneficial in GPC. decreased vision
I
- For mmeal warpage from rigid gas permeable GPC can be chronic and difficult to treat
Diagnostic l'r'O<:edutti/Other lenses, the comact lens use should be
For suspected bacte~al, fungal, or amoeba! COMPLICAnON5
diS(Ontlnued, and the lens should be reflt, or
Infections. the cornea can be cuInned to determlne CentraI bactertaI or funga I Infections can lead to
changed to a soft lens.
the infectious organism and get the antimicrobial vision 1055 and possibly the need for a corneal
sensitivities. A gram stain can also be usefuI in luues far Refetlill transplant.
determining ilthe bacteria are gram positive or Any mmeal infection not resolving or getting worse Use of topical steroid eyedrops on active bacterial,
negative, or p055ibly fungal hyphae may be seen. on flrst-line therapy should be referred to a corneal funga I, or amoebaI infections can significantly
- Amoeba can .sometimes be cultured on spedaIIzed specialist prolong the Infection and worsen the dlnlcaI course..
culture plates or seen with specular microscopy. Addifianal Therapies
l'athologlcal Findings Avelox 400 mg per 24 h by mouth may be considered
Bacteria (gram positive or negative) or h-yphae may as adjunctive therapy for bacterial mmeaI ulcers, as it ADDITIONAL READING
be seen on gram 51aining. has a high penetration through the blood-retina
Chang DC, Grant GB, O'Donnell K, et al. Multistate
Bacteria, fungi, or amoeba may grow on the banier In the Inflamed eye.
outbreak of fusari urn keratitis associated with use of
appropriate culture media. SURGERY/OTliER PROCEDURES a contact lens .solution. lAMA 2006; 296:956.
DIFFERENnAL DIAGNOSIS In rare cases, for bacterial. fungal. or amoeba! Foulks GN. Prolonging contact lens wear and
Viral conjunctivitis mmeal infections not responding to hourly fortified making contact lens wear safer. Am 1 Ophthalmol
Herpetic keratitis antibiotics, amifungal or antiamoebaI therapy, a 2006;141(2):369-373.
Chronlc dry eye comeal transplant can be considered. Levinson BA. Hammersmith KM, Cohen E.J. Fungal
- There Is a risk of recurrence of the Infection In the keratitis in contact lens wearers. In: Tasman W,
Corneal S(aning from old contact lens infection or corneal transplant.
inflammation Jaeger EA. ed. Duane's Ophthalmology. Uppincott
lhyge.son's keratitis IN-PATIENT CONSIDERAnON5 Williams & Wilkins, 2010.
fl IniUal Sgbilization Levinson BA. Rutzen AR. New antimicrobials in

If patients are admitted to the hospital, admlnl51er a ophthalmology. Ophthalmol Clin Nrnth Am
TREATMENT loading dose of fortified eyedrops. 2005;18(4):493-509.
Suchedd JK. Donshik P, Ehlers WH. Contact lens
MEDICATION Admlulon Criteria complications. OphthaJmoJ Clin Nrnth Am
FlmLine In select cases, patients may be admitted for 2003;16(3):471-484.
For bacterial keratitis- fluoroquinolones round-the<lock eyedrops for severe corneal
(moxifloxad n, galifloxacin, besifloxacin) eyed raps or infections.
a broad spectrum (combination eyedrop such as Nursing . CODES
polymlxln Bltrlmethoprtm) Is dosed frequently Patients need to be admitted to a ward where nurses
(1 drop every hour after an Initial loading dose on can administer drops every 31HiD min. ICD!f
1 drop every 5 min for 15 min) Discharge ertt.rle 370.00 Corneal ulcer, unspecified
For fungal keratitis- natacyn (natamycin) eyedrops Patients can be discharged when the comeaI ulcer has 371.82 Corneal disorder due to mntact lens
1 drop perh resolved or slgnltlcantly resolved. 372.30 Conjunctivitis, unspedfied
-If drops can be administered to patients around
the clock, this is preferred. If cannot. consider a
broad spectrum ophthalmic ointment at night ONGOING CARE CLINICAL PEARLS
time such as ciloxan or polysporin.
- For Acanthamoeba keratitis - brolene FOLLOW-UP RECOMMENDATIONS It is critical to obtain a thorough history of the
(propamidine) and baquacil (PHMB) eyedrops For bacterial, fungal. and amoeba! corneaI infections. contact lens use, including wear time (hours/day or
-For GPC- mild topical 51erold drops. such as alrex the patient should be seen every day for a few days. any ovem ight wear), tt1e exact brand and type of the
or FML or shan-term use). Topical amlhlstamlnes untiltt1e condition is stabilized. contact lens and tt1e type of solution used to clean
and mast cell stabilizers, such as pataday, are l'lltient Monitoring andfor store tt1e contact lens and tt1e frequency of
useful for chronic use. After' tt1e contact lens complication is resolved, it is replacemem of the lens
SecondUne important to maintain routine eye care to monitor tt1e Be very cautious in the ~ of topical steroich.
For bacte~al keratitis- fortltled antibiotics made In contact lens use. and monitor for risk factors for Steroids should only be used if infectious etiologies
a compounding pharmacy or In the ln-patlem further contact lens problems. have been ruled out or fully treated.
hospital pharmacy. Use fortified vancomycin or PATIENT EDUCAnON
ancef, to cover gram-positive bacteria. in Proper contact lens care and usage
conjunction with fonified tobramycin or gentamidn
to cover gram-negative bacteria. For suspected
pseudomonas. add fortified ceftazldlme.
For funga I keratitis - fortified amphotericin Bor
fortified vorimnamle
- For Acanthamoeba- chlomexidine, neomycin,
and mimnamle eyedrops
215
CONVERGENCE INSUFRCIENCY
Judith B. Lavrich
Assess for strabismus at near by alternate cover test.
Most commonly, exodeviations at near including
exophoria, Intermittent exotropia, or a constant
DESCRIPTION HISTORY exotropia.
The inability to converge the eyes smoothly and Headadles- occurring during reading or after - Lack of a strabismus at near or even a mild
effectively from distance to near and/or the inability of long periods of reading but may not be associated esophoria has been observed.
maintain the convergent near point with reading at all. Frequently located in the frontal - Some patients will have a reduced stereoacuity.
or periocular area. Can potentiate other underlying
EPIDEMIOLOGY headaches such as migraines. DIAGNOSTIC TESTS & INTERPRETATION
Prevalenm Asthenopia -can manifest as tired, strained eyes Imaging
Reports vary from 1-25% of the population. or eyes that hurt or feel sore with near work. Some Initial approach
RISK FACTORS patients describe a pulling or pressure sensation No initial Imaging necessary if accommodation and
Like many strabismic conditions, symptoms are around the eyes. pupillary reflexes are intact.
aggravated by stress, illness. or lack of sleep. Difficulty with reading/near tasks- patients Follow-up a special considerations
describe intermittent blurriness of the words, print Consider neuroimaging if symptoms and clinical
Genetics moving on the page. frequently losing their place, measurements fail to improve with orthoptic therapy
No specific gene or locus known, although there are lack of concentration, or difficulty with or if other neurologic indicators present or severe
complex genetic influences on fusional amplitudes, comprehension. Increased time at the near task recalcitrant headaches especially if vomiting or walcing
version amplitudes, and convergence/accommodation usually increases symptoms. Some patients will not from sleep or other constitutional symptoms (e.g.,
(AC/A) ratio.
describe symptoms at near because of their strong weight loss).
GENERAL PREVENTION avoidance of near tasks.
Avoidance of near tasks prevents symptoms but there Diplopia - can present as 2 distinct images or an Patients with high-uncorrected hyperopia will make
is no prevention for the disorder. overlap of images. Many patients will have difficulty little or no effort to accommodate as the demand
PATHOPHYSIOLOGY deciphering the double images and will complain of outweighs their accommodative ability.
Ineffective muscular action on attempted blur. Some patients will dose one eye to read to
Some myopic patients have little need to
convergence results in an inability to maintain relieve the diplopia. accommodate to maintain dear vision at near.
proper binocular alignment on visual objects as they PHYSICAL EXAM First-time bifocal wearers will get relief of their
approach from distance to near. This causes an Complete eye examination induding cycloplegic sustained accommodative convergence by the
exophoria or intermittent exotropia at near. refraction to rule out other causes of symptoms bifocal segment which can initiate an exophoria and
The increased convergence effort and/or the (e.g., papilledema due to increased intracranial other symptoms of convergence insufficiency.
increased accommodative effort facilitated in the pressure causing headaches, high hyperopia causing Accommodative insufficiency can be associated with
attempt to maintain ocular alignment causes a convergence spasm) convergence insufficiency. These patients usually
variety of symptoms ranging from mild to severe. Measure near point of convergence. Have the have moresevere symptoms and can be less
Particularly distressing is when the divergent patient fixate on a near target as the target is slowly responsiveto treatment. Causes include febrile
strabismus causes binocular diplopia at near. moved toward the patient's eyes. The eyes will illness. viral encephalopathy, closed head trauma,
Symptoms result from sustained effort to increase converge until a point is reached when the eyes will and anticholinergic drugs.
fusional convergence. deviate from a convergent position to a divergent Convergence paralysis is a distinct dinical entity. The
position. The point prior to the divergent deviation is patient is unable to converge but maintains normal
EnOLOGY the near point of convergence. In a normal child this
Our current understanding suggests an innervational adduction and manifests diplopia at near. Normal
point should be 4 em or doser to their nose. accommodation and pupillary reflexes are present
etiology because of the dramatic response to Assess the ability to converge. Look for increased on attempted convergence. Results most commonly
treatment both in the patient's subjective effort with convergence manifesting as a slow
Improvement and the objective measurements of from head trauma but can be seen with encephalitis,
and/or jerking movement rather than a smooth midbrain lesion, and other intracranial pathology.
near point of convergence and fusional convergence
consistent movement seen in normal convergence. Headaches can be from a wide variety of causes
amplitudes.
Look. for inability to maintain near fixation. including brain tumor, migraine, and convergence
The symptoms of convergence insufficiency are
directly related with reading or other near vision Measure fusional amplitudes. Look for low fusional spasm.
convergence amplitudes. Have the patient fiXate on
tasks.
a line of Snellen letters and add base-out prism in a
COMMONLY ASSOOATED CONDITIONS slow, gradual manner. Diplopia will occur when
Closed head trauma and lesions in the pretectal area fusion is no longer possible. The amount of prism
or the dorsal midbrain have been associated with added is the measurement of fusional convergence.
acquired convergence insufficiency.
216
CONVERGENCE INSUFRCIEIICY
ADDITIONAL READING
Lavrich JB. Convergence insufficiency and its current
MEDICATION FOLLOW-UP RECOMMENDATIONS treatment Cur Opln Ophthalmol 201 0; 21 (5):
RrstLine Nonsurgical therapy will need to be continued until 356-360.
symptoms are controlled and convergence is well Baniss MJ. Cornrergence insufficiency.
0 rthoptlc therapy/computer orthopUcs - There Is
recent strong and persuasive evidence to suppon Its
maintained at the near point Emedicine.medscape.com201 0; 1-9. C
l'lltient Monitoring American Association of Pediatric Op~thalmology
use for treatment for convergence insufficiency. Improvement In symptoms at near tasks, espedally and Strabismus Website searth Convergence
(1)[A]lhe patient performs vergence/ reading lnsufficiencyhttp:flwww.aapos.orglfaq Jist/
aCCOOI modative therapy with a series of exercises convergenceJnsuffidency.
Reduction of ~eadaches with nl!ilr tasks
using lenses, prisms, and stereograms. Recent~,
compute~zed orthopUcs programs are used to
Resolution of diplopia at near
perform similar exercises. PATIENT EDUCAnON . CODES
l'endl push'i.!psfacmmmodative target - have been lnfonn the patient that the symptoms will reoccur
used as a mainstay of treatment. Despite their with time and therapy may need to be restaned ICD9
widespread use, very limited studies ~ave evaluated periodically. 368.2 Dlplopla
their effectiveness. (2) [B]In this exen:ise, the During the presbyopic years it may be difficult to 368. 13 VIsual dhcomfon
patient is instructed ID maintain single vision as a differentiate if the symptoms at near are seconda~
to the nonnalloss of accommodation or the
378.83 Convergence insufficiency or palsy
target (commonly the lflters on a pencil are used for
fixation) is moved toward their eyes. The patient recurrence of the convergence insuffidency.
then sustains the closest fixation possible before
diplopia ocwrs.
PROGNOSIS CLINICAL PEARLS
Excellent prognosis wi~ reduction or elimination of
SecondUne symptoms with treatment. On intake. patients should be askEd about any
problems they may have wi~ reading. All patients
B~in prism reading glasses - have been ~own to
with slgnlflcant reading difficulties should have a
decrease symptoms of convergence insufficiency in the REFERENCES comprehensive eye examlnaUon to rule out
presbyopic population. (3)[A]
strabismus and relractive errors, and identify
1. Sclleiman M, Rouse M, Kulp MT, et al. Treatment of convergence insuffidency.
ADDITIONAL TREATMENT convergence lnsuftldency In childhood: A current
Additiollal TheRpies perspective. Optom Vis Sd 2009;86:420-428. Perfonn an alternate cover test at near on any
Bifocal glasses {plus lenses) can be used to reduce 2. Gallaway M, Scheiman M, Mal~otra K.. The patient with reading difficulties to assess for
symptoms as they magnify the print and lessen the strabismus.
effectiveness of pencil pushups treatment for
need for accommodation and its related convergence insuffidency: A pilot study. Optom Vis Measure near point of convergence on any patient
convergence. This therapy may worsen the Sd 2002;79:265-267. with reading difficulties to look for a remote nl!ilr
convergence Insufficiency In some patients due to point.
3. Teitelbaum B, Pang Y, Krall J. Effectiveness of base
lack of accommodative demand.
in prism for presbyopes with convergence
Over-minus glasses (glasses with excessive myopic insuffidency. Optom Vis Sd 2009;86:153-156.
correction for the patient) can be used to stimulate
aCCOOimodation and its related convergence. This
may Intensify the symptDms In some patients.
Eye muscle surgery (typically unilateral or bilateral
medial rectus resection) should be reserved for only
the most protracted cases. The decision to proceed
with surgery should be made only after all nonsurgical
treatment efforts have failed.
217
CORNEAL ABRASION
Benjamin H. Bloom
Previous injury to Bowman's layer or certain corneal
PHYSICAL EXAM
Fluorescein, viewed under cobalt blue light, stains
basement membrane revealing the area of absent
dystrophies can cause recurrent corneal abrasion
DESCRIPTION months after the initial trauma due to poor adhesion epithelium:
A corneal epithelial defect from several possible between the epithelium and basement membrane -Abrasions usually irregular in shape; should
causes: (1)[8]. measure and diagram to chart progress
-Traumatic (most common) - Should not flood the eye with fluorescein. This can
- Nontraumatic ETIOLOGY cause "pooling" and give the impression of
Blunt or penetrating trauma: staining where none exists
RISK FACTORS - Retained conjunctival foreign body
Related to trauma: A drop of topical anesthetic greatly aids patient
-Paper cut comfort and cooperation during the exam. However,
-Athletes without suitable eye protection - Defective contact lens
- Contact lens wearers do not send the patient home with a prescription for
-Vigorous eye rubbing from unrelated ocular topical anesthetic. This impedes healing.
- Industrial workers without suitable eye protection: irritation, such as allergic conjunctivitis
a Machine operators Vertical staining lines on the cornea are highly
a Construction trades COMMONLY ASSOCIATED CONDITIONS suggestive of a foreign body on the tarsal
a Welders Eyelid, ocular, orbital trauma: conjunctiva of the upper lid. Be sure to evert the lid
Poor adhesion of epithelium to basement - Eyelid laceration with a cotton stick. or with a lid everter.
membraneJBowman's layer: - Hyphema/microhyphema Examine both eyes for dystrophic changes, such as
- Previous injury to Bowman's layer: - Orbital fracture map-like lines, microcysts or fingerprint lines. The
a Trauma involving the subepithelium fellow eye may provide avaluable clue of anterior
a Previous ocular surgery, especially refractive
surgery
~ DIAGNOSIS membrane dystrophy.
The underlying stroma should be dear. A whitish
- Recurrent corneal erosion from organic matter: HISTORY infiltrate is a sign of infection.
a Fingernail Patients almost always can describe the exact time Examine the eye carefully for other evidence of
a Tree branch and circumstances of the event that caused the ocular trauma.
-Corneal dystrophy, especially epithelial and abrasion. If they cannot and the time of onset is If the eye was examined over 24 h after the trauma,
anterior membrane: vague and the pain seemed to occur spontaneously, the abrasion may have healed and the diagnosis of
a Map-dot-fingerprint dystrophy (Cogan's you should question a traumatic Dx and be more corneal abrasion may only be presumed.
microcystic) (most common) suspicious of an infectious etiology, e.g . herpes
a Reis-Bucklers, Meesmann's dystrophy (much DIFFERENTIAL DIAGNOSIS
simplex (H. simplex).
less common) Conjunctival laceration
- Severe pain
a Stromal and endothelial dystrophies have also -Redness Corneal or conjunctival foreign body
been described (rare) - Foreign body sensation Traumatic iritis
Genetics - Photophobia Infectious keratitis or conjunctivitis:
Dominant inheritance in many of the corneal - Pain on blinking -H. simplex
dystrophies: -Tearing - Epidemic keratoconjunctivitis (pink eye)
-Cogan's: Dominant with variable penetrance
- Reis-Bucklers' autosomal dominant
GENERAL PREVENTION
Industrial or agricultural workers should wear safety
- Pain worsens with blinking and improves with lids
closed
-Visual acuity may be decreased
Recurrent corneal abrasion patients frequently have
rJ TREATMENT
MEDICATION
a history of prior corneal abrasion(s) in that same
glasses or goggles as appropriate. eye: First Line
Athletes should consider wearing eye protectors. Topical antibiotic drops [e.g., polymyxin
- May have had multiple previous episodes of
Eyelids should be taped closed in patients B/trimethoprim (polytrim), aminoglycoside, or
corneal abrasion in the same eye
undergoing general anesthesia. fluoroquinolone] q.i.d.
- Symptoms frequently oc.cur upon awakening as
- Drops have the advantage of allowing better
the eyelids are opened.
vision during healing.
-Abrasion may be caused by minimal trauma such
as eye rubbing. Topical antibiotic ointment (e.g., erythromycin,
bacitracin, aminoglycoside, or fluoroquinolone)
q.i.d.
- Ointments have the advantage of better
lubrication so as to decrease the pain that occurs
during blinking.
The dose of either of the above may be increased to
per 2 h if infection is a concern.
Short-acting cycloplegics (e.g., tropicamide or
cyclopentolate) may be used if there is photophobia
or if traumatic iritis is a concern.
218
CORNEAL ABRASION
Topical NSAID drops (e.g., didofl!nac or ke!Drnlac) Additional Theraplu 3. Watson SL. Barker NH. lnterverrtions for recurrent
will heIp deaease pain. Steroids and slow healing Bandage contact lens corneal erosions. Cochrane Database Syst Rev
should be avoided. 2007;(4):C0001861.
Epithelial debridement and diamond burr polishing
When treating reo.ment abrasions/erosions of Bowman's layer (4)[BJ 4. Aldave AJ, Kamal KM, Vo RC, etal. Epithelial
hypertonic 5% NaCI drnps andfor oi rrtment (e.g., debridement and Bowman's layer polishing for
o Anterior stromal punctu.re
Muro 128) q. i.d. increases the adhesion of the visually significant epitheliaI irregularity and
I
epitheIium to the basement membrane. Should be o Alcohol delaminationfdebridement recurrent corneal erosions. Cornea 2009;28(1 0):
conUnued for 6 months and, on occasion, SURGERY/OTHER PROCEDURES 1085-1090.
indefinitely. Anterior stromal punctu.re by the Nd:YAG laser
Recurrent erosions are also helped by artilidal tears Excimer laser phatatherapeutic keratectomy
(e.g. systane) andfor artifiCial tear ointment (e.g. ADDI110NAL READING
systane PM) after the epithelium has healed. These Das S, Seltz B. Rec\Jrrent corneal erosion syndrome.
lubricate the ocular surface to help prevent $ ONGOING CARE Surv Ophtha/mol 2008; 53(1):3-1 S.
recurrence.
FOLLOW-UP RECOMMENDATIONS Ewald M, Hammersmith KM. Review of diagnosis
SecondUne o Patients should be seen daily for signs that the and management of recurrent erosion syndrome.
Sulfonamides have the disadvantage of serious epithelial defect is improving. Document size of Curr Opin Ophtha/mo/2009;20(4):287-291.
ocular advefse reactions (e.g., Stevens-Johnson defect at every visit Fraser s. Corneal abrasion. Clln Op/ltha/mol
syndrome) (rare). 201 0;4:387-390.
When healing progress is certain, you may extend
Chloramphen lcolls widely used In Europe but there exam interval to 2-3 days.
have been a few reported cases, which some o When epithelial defect is completely closed, you may
consider questionable, of blood dyscrasias. The . CODES
extend exam interval to 3-5 days. Discontinue
eyedrop form has the disadvarrtage of requiring
anUblotlc. Continue NSAJD andfor cycloplegic as
refrigeration. ICD9
necessary. Instruct all patients about the possibility
Fusidic acid viscous solution (fucithalmic) is widely of recurrent abrasions. 371.42 Reanrent erosion of cornea
used In Canada and Europe. Advarrtages are the
o Discharge when the epithelial surface is restored to 371.82 Corneal disorder due to corrtact lens
high efficacy with gram positives, espedally staph, normal. If this is a recurrent erosion, continue
and the b.i.d. dosage. A disadvantage is the weak 918.1 Superfldallnjury of cornea
artifidaI tears and/or ointment and hypertonic saline
efficacy with gram negatives.
drops andfor ol ntment as above. Fol ~P for
ADDITIONAL TREATMENT recurrent erosions may be extended and patients CLINICAL PEARLS
General Measures may become familiar with the symptoms of a
recurrence. They should be instructed to re1.1.1m Lack of definite history of trauma can be a tip-off for
Pressure patching is nat necessary for smaII abrasions immediately if a recurrence is suspected. an infectious Dx.
but can help healing and comfort if the abrasion is Vertical scratches on the (Dt'nea are a tip-<rlf for a
large. If the patierrt is more comfortable with the eye COMPUCATlONS conjunctival foreign body under the lid.
closed, then patch. If you do not know how to apply Untreated corneal abrasions can progress to bacte~al
Remember to examine both eyes. This helps discover
a proper pressure patch, It Is better nat to patch at keratitis and corneal ulceration. All patierrts should be
informed ofthis possibility and the need for immediate corneal dystrophies.
all. A loose gauze pad over an open eye may abrade
the cornea further and prevent healing or may even management if this occurs. Patdl ing not necessary for small abrasions
make the abrasion larger. If there is a suspicion of White infiltrates indicate infection and should be
infection, i.e., if a whitish corneal infiltrate is seen or promptly referred to an ophthalmologist.
if plant matter or a fingernail was the cause of injury,
REFERENCES
then patchl ng may worsen the Infection and should 1. Ramamu rthi S, Rahman MQ, Dutton GN, et al.
not be used. If the patient Is a contact lens wearer, Pathogenesis, clinical features and management of
the abrasion should be assumed to be infected and recurrent corneal erosions. Eye (Lond) 2006;20(6):
patching should not be done. The contact lens should 63.)....644.
not be worn until the cornea is healed (2)[AJ, (3)[A). 2. Turner A. Rabiu M. Patching for corneal abrasion.
Issues for Refenal Crxhrane DatabaseS~ Rev 2006;(2):(0004764.
Cases with noninfected abrasions and no ather
ocular trauma usually heal quickly and need not be
referred.
Cases with infection or which show poor or no
response to the above treatment should be referred.
219
CORNEAL TRANSPlANT COMPUCATIONS
Irving M. Raber

Control of intraocular pressure:
- Pre-op
~ DIAGNOSIS
DESCRIPTION -lntra-op HISTORY
Cadaveric corneal transplantation o Intravenous mannitol Acute:
Penetrating keratoplasty o Avoid external pressure - Blurred vision
Lamellar keratoplasty - Post-op -Redness
Meticulous surgical technique - Photophobia
Anterior
-Pain
Posterior Anticipate problems
-Discharge
Descemet's stripping endothelial keratoplasty Use of favorable donor tissue -Lid swelling
Descemet's membrane endothelial keratoplasty Preferable to operate on a quiet, noninfected eye -Trauma
EPIDEMIOLOGY PATHOPHYSIOLOGY Chronic:
Incidence Corneal opacification: - Blurred vision
Complications are dependent on preoperative status -Edema - Monocular diplopia
-Scarring - Halos/glare
of eye, skill of surgeon, intraoperative circumstances,
- Surface breakdown - Pain/irritation
and postoperative variables including medications and
-Infection -Redness
trauma.
Glaucomatous optic neuropathy PHYSICAL EXAM
RISK FACTORS Cataract
Corneal neovascularization Conjunctival injection/ciliary flush
Anterior segment disorganization Corneal transplant edema
Glaucoma (1)
Active corneal infection: ETIOLOGY Corneal transplant subepithelial infiltrates
-Bacterial Intraoperative difficulties: Corneal infiltrate/crystalline accumulation
-Fungal - Positive pressure Corneal surface breakdown
- Herpes simplex -Vitreous loss Corneal epithelial dendrite/geographic ulcer
- Acanthamoeba - Choroidal effusion/hemorrhage lamellar interface haze/opacification
Lens status: - Hyphema Detached posterior lamellar graft (2)
-Cataract lm mune rejection Secondary anterior chamber/detached Descemet's
- Intraocular lens Endothelial failure membrane in deep anterior lamellar keratoplasty
- Posterior capsule Poor wound apposition/healing Anterior chamber reaction
Anterior segment disorganization: Elevated intraocular pressure Keratic precipitates/endothelial rejection line
- Peripheral anterior synechiae Infection: Exposed sutures
- Pupil/iris distortion - Corneal ulceration Wound leak/dehiscence
Corneal hypestllesia - Crystalline keratopatlly Elevated intraocular pressure (3)
Ocular surface abnormalities: - Endophthalmitis
- lamellar interface infection Hypotony
-Dry eyes
- Blepharitis Cataract
COMMONLY ASSOCIATED CONDITIONS Recurrent corneal dystrophy
-Trichiasis
Glaucoma Expanding curvilinear ridge on endothelium
-Exposure
Complicated cataract surgery (epithelial downgrowth)
-Toxic medicamentosa
- Limbal stem cell deficiency Ocular surface abnormalities Refractive error:
-Chemical burn - High cylinder (4)
-Aniridia o Regular/irregular astigmatism
Steroid responsiveness - High sphere
Corneal dystrophy Retinal/choroidal detachment
Macular edema/pucker
Genetics
As related to various corneal dystrophies
220
CORNEAL TRANSPLAIT COMPLICATIONS
DIAGNOSnC TESTS & INTERPRETAnON SmndUm~ COMPLICAnON5

Imaging Immune rejection: Pediatric Conslderfltlons
When lntraorular visualization obscured by corneal - Submnjunctlval steroid Children are more dlfflrult to follow which leads to
opacification - Oral steroid delayed diagnosis of complications. Repeated
- B scan ultrasonography - Oral cyclospoli ne, taaol imus examinations under anesthesia are frequently
- Ultrasound biomicrosmpy Infection:
- Optical mherl!llce IDmogr.~phy - Oral antimicrobial therapy necessary.
High incidence of immune rejection occurs.
C
Selia! pachymetJy to monitor endothelial cell NonInfectious epithelial breaKdown:
Congenital mmeal cloud lng frequently assodated
function - Bandage contact lens
- Oral omega 3 fatty acid supplementation with anterior chamber abnormalities is present that
Selia! specular miaosmpy to monitor endothelial inaeases risk for mmpliciltions and reduces suc:cess
cell status - Oral doxycycline
Glaucoma: rate of corneal transplantation.
Diagnostic Procedures/Other - Oral carbonic anhydrase inhibitor Amblyopia appears.
When suspect Infection:
- Corneal scrapings for cultures and smears SURGERY/OTHER PROCEDURES
Rigid mmact lens refraction - if results in sign iiicant Repeat keratoplasty for graft rejection/failure/ ADDI110NAL READING
improvement in vision mmpared ID spect:ade scarring
correction it mnfinms irregular astigmatism as a Permanent l:eratcprosthesis for repeat graft Rumelt S, BersudskyV, Blum-Hareuvenl T, et al.
source of reduced vision. rejection/failure Preexisting and postoperative glaucoma in repeal!d
Glaucoma surgery for uncontrolled intraocular mmealtransplantation. Camea 2002; 2(18):
Pllthological Findings 759-765.
Corneal edema pressure
Tarsorrhaphy, amniotic membrane transplantation, Shih CY, Ritterband DC, Rubino 5, et al. Visually
Corneal scarring
mnjunctival flap. limbal Sl!m cell transplant for significant and nonsignificant complications a~slng
Corneal vascularization from Descemet st~ppl ng automated endotheIIaI
Corneal ulceration persiSI!nt epithelial defect
Refractive surgeiY Onclslonal astlgmalic keratotomy keratoplasty, Am J Ophtha/mol 2009;148(6):
Corneal thlnnl ng 837-1143.
mmpression sutures, wedge resection, exclmer
Corneal inflammation laser photorefractive keratectomy, lasik. intraocular Karadaq 0, IWgu 5, Erdogan G, et al. Incidence of
0 rga nisms on gram and/or various fungal stili ns lens, conductive keratoplasty) for high residual and risk factors for increased intraocular pressure
Endothelial cell atrophy refractive error/anisometropia after penetrating keratoplasty. Cornea 2010;29(3):
Recurrent corneal dystrophy (Bowman's membrane, 278-282.
stromal, endothelial, ker.rtocon us) Bartels MC, van Rooij J, Geerards AJ, et al,
ONGOING CARE Comparison of mmplication rates and postoperative
DIFFERENnAL DIAGNOSIS astigmatism b4!tween nylon and mersilene sutures
lmmune rejection vs nonimmunologicaI endotheliaI FOLLOW-UP RECOMMENDATIONS for corneal transplants In patients with Fuchs
failure Frequency of follow-up visits predicated by severity of endotheliaI dystrophy. ComH 2006;25(5):533-539.
lmmune rejection vs herpes simplex keratouveitis the complication and lnteg~ty of the globe, I.e., dally
Michaeli A, Markovich A. Rootrnan OS. Corneal
Infectious vs noninfectious mrneal ulcer/ for inilia! treatment of severe infection
transplants for the treatment of congenital corneal
lnflltrate/ulceratlon Patient Monitoring opacities. J Pediatr Oi/!thalma/ Strabismus 2005;
lmmune rejection vs epithelial downgrowth Visual awity 42(1):34-44..
Glaumma vs steroid responder CorneaI clarity
Regular vs irregular astigmatism lntraocular pressure
PATIENT EDUCAnON . CODES
. TREATMENT Need ID seek prompt evaluation at first signs of
rejection/infection, i.e., blurred vision, pain, redness, ICD9
MEDICATION photophobia, discharge, lid swelling. V42.S Cornea replaced by transplant
FlmLine 370.8 Other fonms of keratitis
PROGNOSIS 996.89 Complications of other spedfied
lmmune rejection: Depends upon original diagnosis and severity of
-Topical sl!roid transplanted organ
complication. Ultimal! visual remvery related to
-Topical c.yclosporlne status of posterior segment
-Topical <.ycloplegla
Infection:
-Topical antimicrobial therapy
-Topical c.ycloplegia
Noninfectious epithelial breakdown:
-Topical lubrication, preferably preservative free
- Reduce use of toxic topical medications
- Puncta! occlusion
Glaumma:
-Topical antiglaucoma medication
- Reduced topical Sl!roid
Astigmatism/anisometropia:
- Spectacle correction
Contact lens mrrection
221
COITON WOOL SPOTS
James F. Vander
If initial work-up is negative, additional testing is
essential given that nearly all patients end up with
DESCRIPTION HISTORY some underlying systemic abnormality identified.
Localized area of superficial retinal whitening Cotton wool spots alone rarely cause symptoms - Further blood work to include infectious causes,
Generally smaller than 1/2 disc area unless very close to center of macula. with guidance based on history and review of
Primary importance is as a marker of underlying Vision loss if associated with other features of retinal systems (RPR, FTA, Lyme, HIV. leptospirosis, Rocky
disease, usually systemic. vascular disease such as macular edema or bleeding Mountain spotted fever, Onchocerciasis),
PHYSICAL EXAM inflammatory/autoimmune, hematologic, protein
EPIDEMIOLOGY electrophoresis, pancreatic enzymes, and blood
Unknown. Discrete area of superficial retinal whitening
Retinal hemorrhages, edema, exudation, cultures.
RISK FACTORS neovascularization are often associated Imaging
Diabetes Initial approach
Systemic hypertension DIAGNOSTIC TESTS & INTERPRETATION
Intravenous fluorescein angiography- will confirm
Atherosclerotic peripheral vascular disease Lab diagnosis and possibly identify additional aspects of
Collagen vascular disease Initial lab tests retinal vascular disease such as vasculitis or
CBC with differential microaneurysms.
Other systemic abnormalities (see Differential
Diagnosis) Fasting blood sugar Follow-up It special considerations
Hemoglobin A1C Consider cardiac ultrasound. chest x-ray, and carotid
PATHOPHYSIOLOGY Lipid panel
Occlusion of precapillary retinal arterioles. ultrasound.
Sedimentation rate
EnOLOGY C-reactive protein In elderly patients, temporal artery biopsy.
Damming of axoplasmic flow caused by small vessel
obstruction. Pathological Findings
Cytoid bodies- nerve fiber layer. eosinophilic cellular
COMMONLY ASSOCIATED CONDITIONS appearing structures with "pseudonuclei" (1 .IC]).
Diabetes - On electron microscopy - accumulation of
Systemic hypertension axoplasm with mitochondria and neurofilaments.
Atherosclerotic peripheral vascular disease The pseudonuclei" is likely accumulation of lipid.
222
COTTON WOOL SPOTS
DIFFERENTlAL DIAGNOSIS Altitude retinopathy PROGNOSIS

Myelinated nerve flber layer Severe anemia VIsual prognosis generally good
Central or brand1 retinal artery obstruction Acute blood loss Prognosis systemically dependent on underlying
o Retinal hamartoma Ocular isdlemic syndrome (carotid disease) cause
Nematode Dysproteinemias
DiffeiWifilll far Underlying Illness: Septicemia REFERENCES
I
(2[1}) Aortic arch syndrome
o Sys:temit hypertension Intravenous drug abuse 1. Wolter JR. Pathology of a cotton-wool spot. Am J
o Diabetes melllws Acute pancreatitis Ophlha/mo/ 1959;4S:473-4S 5.
o Collagen vaswlar diseases Ond1acerdasis 2. Brown GC, Brown MM, Hiller T, et al. Cotton wool
- Systemic lupus erythematosus InterfEron toxicity spots. Retina 1985;5:206-214.
- Dermatomyositis
- Scleroderma
- Giant cell arteritis
Cardiac valvular disease
. TREATMENT I; coDES
-Mitral valve prolapse ADDITIONAL TREATMENT ICD9
- Rheumatic heart disease GeneraiAfeasuteS 362.83 Retinal edema
- Endocarditis Treat underlying systemic disease.
AIDS
o Leuki!mia
ONGOING CARE
o Trauma (Purtscher's retinopathy)
RadlaUon retlnopatl1y FOLLOW-UP RECOMMENDATIONS
o Central/branch retinal vein occlusion Ensure follow up with primary physician until
Sys:temit malignancy underlying diagnosis achieved.
Leptospirosis l'lltient Monitoring
Rocky Mounlilin spotted lever Reexamine 1-2 months to ensure resolution or
development of other findings
Patient to monitor vlslon and report d1anges ~ they
occur
223
CRANIOSYNOSTOSES
Brian J. Forbes
Kathleen Romero
Alex V. Levin
~ BASICS
Goldenhar syndrome (oculo-auricular-vertebral Hypertelorism is technically measured by the
spectrum): Most cases sporadic, autosomal recessive distance between the bony medial orbital walls.
and autosomal dominant, estimated recurrence in Mustarde Index: ratio of the intercanthal distance to
DESCRIPTION first-degree relatives approximately 2%. Several loci the interpupillary distance. Normai::;0.50. Values
Craniofacial syndromes are divided into described including 5p1 5.33-pter (dominant), Bq1 1 greater than this represent telecanthus and a
craniosynostoses and clefting syndromes. (dominant), 11 q12-13 (dominant), 14q22 possible underlying hypertelorism.
Craniosynostosis describes premature sutural fusion. (dominant or recessive) and 22q 11.2 (dominant). Assess for caruncle abnormalities in Goldenhar
Craniostenosis is the result. The SALL1 gene (16q12.1) has been mutated in Strabismus and refractive error common. Amblyopia
Simple craniosynostosis refers to premature closure some sporadic cases. common. Most common strabismus is exotropia
of a single suture. Compound craniosynostosis PATHOPHYSIOLOGY slightly more than esotropia. Vertical deviations and
involves 2 or more sutures. Virchow first described how premature closure of one A- or V-patterns can occur alone or in combination
In primary synostosis, the most common type, cranial suture promotes growth parallel to that suture with the horizontal deviation. Dissociated vertical
cranial sutures are fused prematurely because of and inhibits growth perpendicular to it (1). deviation, pseudo-overacting inferior oblique
genetic factors. In secondary craniosynostosis, muscles.
premature sutural fusion is secondary to another ETIOLOGY May have nasolacrimal duct
known disorder/process (1). There are 3 classic theories: Primary dysgenesis with anomalieslobstructionldysfunction
secondary cranial base abnormalities, primary cranial
EPIDEMIOLOGY Rare associated anterior segment or retinal
base malfollTiation with secondary obliteration of the
Prevalence abnormalities other than optic nerve malformations
cranial sutures, primary defect in the mesenchymal
(frontonasal dysplasia)
Crouzon syndrome: 16.5 per million live births and blastema producing both an abnormal cranial base
accounts for 4.8% of all craniosynostosis, making it and craniosynostosis. Systemic malformations: Syndactyly (Apert), large
the most common craniosynostosis syndrome. great toe and thumb (Pieiffer). hearing loss. external
ear malformations, midfacial hypoplasia, protruding
Apert syndrome: Estimated of 1per 160,000 live
birttls, approximately 4.5% of all craniosynostosis. ~ DIAGNOSIS tongue, acanthosis nigricans (Apert), dental
malocclusion, and palatal abnormalities
Other craniofacial disorders are less common. HISTORY
Family history and examination of parents and DIAGNOSTIC TESTS & INTERPRETATION
RISK FACTORS
No known risk factors other than genetic. siblings may be helpful. Lab
History of associated syndromic abnormalities may Molecular genetic testing
Genetics
Crouzon syndrome: Autosomal dominant, variable help direct diagnosis (e.g., hearing loss, Imaging
expression. 25% are spontaneous mutations (no developmental delay, acanthosis nigricans, upper Initial approach
family history), although affected parents may be airway obstruction, hydrocephalus, syndactyly). The use of ancillary testing is on a case-by-case basis
missed if mild. Mutations in fibroblast growth factor PHYSICAL EXAM Skeletal survey if skeletal dysplasia also suspected
receptor genes: FGFR2 (1 Oq26) or FG FR3 (4p 16) Visual function 90% of vision loss is secondary to Magnetic resonance imaging (MRI) of the brain
gene. Associated with advanced paternal age (2). amblyopia, and 10% is secondary to structural Computerized tomography (CT) with 3-dimensional
Apert syndrome: Autosomal dominant, FGFR2 gene. abnormalities of the globe or visual pathways. reconstruction of the skull and face
Most patients have 1 of 2 specific mutations in exon Position/shape/integrity of the lids, palpebral Dental Panorex radiography
lila. Associated with advanced paternal age. (3) fissures, and canthi. Examine for trichiasis, Follow-up & special considerations
Pleiffer syndrome: Autosomal dominant, complete entropion, ectropion, colobomas, distichiasis, ptosis, Follow up is largely dictated by the severity of
penetrance and variable expression, FGFR2 and epicanthal folds, symblepharon, and ophthalmic findings.
FGFR1 (8p11.2)(4). an lcyloblepharon. Vertical and horizontal fissure Requires multidisciplinary team, which may include
Saethre-Chotzen: Autosomal dominant, high length, upper and lower Iid crease position, and genetics, plastic surgery, neurosurgery, oral surgery,
penetrance and variable expression, basic marginal reflex distance are important points of orthodontics, ophthalmology, otolaryngology,
helix-loop-helix transcription factor called TWIST 1 information, when obtainable. Ptosis (especially pediatrics, psychiatry, nutrition, speech therapy, and
(7p21-2l) or FGFR3. Advanced maternal age is a Saeth re-Chotzen). social work.
risk factor for new mutations (5). Characteristic downslanting lower lid coloboma with Ongoing concern of corneal exposure, may be worse
Treacher Collins syndrome (mandibulofacial sharp upswing medially in Treacher-Collins. with older age, especially if exorbitism or lower lid
dysotosis): Autosomal dominant, variable Horizontal lid shortening on forced closure (e.g., coloboma.
expression. Positive family history in approximately crying).
40% of patients, TCOF 1 gene (5q32-33.1 ). Evaluate for exorbitism and corneal exposure.
Advanced paternal age is a risk factor for new Evaluation of the optic nerves papilledema.
spontaneous mutations. Telecanthus is measured by the intercanthal
distance. In infants, generally < 20 mm; in older
children <24 mm; in adults, <30 mm.
224
CRANIOSYNOSTOSES
Risk in first decade of amblyopia. Manitor visual Strabismus SUI!JI!IY complicall!d by

function. absent/anomalous extraocular muscles. Preoperative . CODES
Ophtha 1mology may be asked to attend cran lofaclal plan may be assisted by ultrasound, a; and MRl.
surgica 1 interventions for prophylactic probing of Intraoperative exploration using limbal indsion ICD9
nasolacrimal sysll!m, monitoring of eye pressure. or recommended. Preoperative assessment often 755.5 5 Acrocephalosyndactyly
optic nerve mncerns. cannot predict muscle patll!rns. Reoperation 756.0 Congenital anomalies of skull and face bones
I
Monitor for papilledema or optic nerve mmpression. frequent. May not be able to normalize alignment in
aII flelds of gaze.
The dliferent!aI diagnosis can often be easily IImlted to IN-PATIENT CONSIDERATIONS CLINICAL PEARLS
a few syndromes and further delineall!d by a genetic Initial Stabilization Multidisciplinary team approach is essential.
worlc.up. The initial ophthalmic evaluation should be
Early ophti1almic consultation is needed to assess for
acmmpl ished as soon as possible after the diagnosis
corneal exposure. papilledema, and risk fa~rs for
fl TREATMENT
of any aanlofadal abnormality Is made, preferably
before any surgical Intervention.
The most common initial concern, especially in the
amblyopia such as refractive error and strabiSmus.
In the repal r of ocular and adnexal deformIdes, the
ADDITIONAL TREATMENT concept af timing underscores ti1e importance of the
multiple craniosynostoses (e.g., Apert. Crouzon,
General MNSures interaction of the dinidans who mmprise the
dDVI!rleilf deformity) is maintenance af an
lmmediall! ophti1almic mnsultation is usually obtained craniofacial team. Preservation and d&telopment of
adequate airway.
ID evaluate for mrneal exposure. orbital dystopia, vision are the primary goals of ti1e opl1ti1almologist
extraocular muscle dysfunction lid abnormalities, and and may require early and persistent Intervention.
papilledema. $ ONGOING CARE Nasolacrimal surgery may be cha llenglng due to
anatomic abnormalities.
SURGERY/OTHER PROCEDURES FOLLOW-UP RECOMMENDATIONS Abnormal eye muscle anaiDmy is a frequent
Maximize multidisciplinary procedures under Ongoing monitoring is essentiaI to evaluall! for challenge during strabismus surgery. Alignment in
anesthesia corneal exposure (which may increase witi1 age), all fields of gaze may not be possible.
Initial cranioladal surgery usually aimed at relieving vision abnormalities, papilledema, and ocular
increased intracranial pressure and allowing for misalignment.
brain growth (e.g., strip craniectomy). Later surgery
to reposition orbits (orbital advancement) often
requires periosteal el&~ation and dissection of REFERENCES
orbiml mntents from the orbital walls. Orbital walls 1. Virchow R. Ober den Crestinismus, Manenlidc. in
fractured approxi mall!ly 15 mm anterior to the fran ken, and Ober patholog ische Schadelformen.
orbital apex as needed fer particular syndrome VerPhys Med (Warsburg) 1851;2:230.
repairs, allowtng the orbit to be shifted In any
2. Preston RA. Post JC, Keats BJ, et al. A gene for
desired direttion. Later surgery designed for furti1er Crouzon craniofacial dysosiDsis maps to the long
remnstruction to improve appearance. arm of chromosome 10. Nat Genet 1994;7:149.
Ophthalmology may be needed_ during or a~r 3. Part wJ, Theda c, Maestri NE, et al. Analysis of
craniofacial surgery. Postoperative concerns 1nclude
phenotypic features and FGFR2 mutations In Apert
chemosis, exposure, optic nerve impingement.. syndrome.AmJ Hum Genet 1995;57:321.
papilledema, extraDOJiar muscle dysfunctlon, and lid
malposition. 4. Schell B, Hehr A. Feldman GJ, et al. Mutations in
FGFR1 and FGFR2 cause familial and sporadic
The variety and types of surgical repairs for ti1e l'feiffer's syndrome. HumMed Genet 1995;4:323.
ophthalmic surgical problems generally follow the
basic tl!nl!lli ti1at gDVI!rn ti1eir use in patienlli who do s. Reid C, McMorrow LE, McDonald-McGinn DM, et
not have craniofacial problems. Tarsorrhaphy or lid al. 5aeth re-C hotzen syndrome with lamlilaI
reconstruction may be needed for corneal exposure. translocation at chromosome 7, p. 22. Am 1 Med
Genet 1993;47:637.
If nasolacrimal probing/intubation indicall!d,
pathway may be very anomalous and intranasal
anaiDmy crowded, nasal endosmpy may be helpful.
Preopelative evaluation to ensure no anterior
encephalocele Ylith braln In nasopharynx
(frontonasal dysplasia).
225
CROHN'S DISEASE &UC
Douglas M. Wisner
~ BASICS Genetics
IBD is familial but displays non-Mendelian
inheritance and variable expressivity, likely reflecting
PHYSICAL EXAM
Slit-lamp examination
Episcleritis
DESCRIPTION a multifactorial genetic influence. - Epibulbar injection that blanches with 2.5%
Inflammatory bowel disease (IBD) is an idiopathic HLA-B27 is present in approximately 8% of the phenylephrine. No anterior chamber cell and flare
inflammatory disease of the intestinal tract that is Caucasian population and is associated with higher Anterior uveitis
associated with a number of extra-intestinal rates of acute anterior uveitis in general. - Ciliary flush (vascular injection adjacent to the
manifestations. IBD can be classified as Crohn's Patients with IBD and HLA-827 are at increased risk limbus), anterior chamber cell and flare
disease (CD) or ulcerative colitis (UC) based on the for ocular disease manifestations than 18D patients
pathologic location of the diseased areas within the Scleritis
without HLA-827 positivity. - Diffuse or nodular epibulbar injection (not
gut. Ocular manifestations of 18 D are variable and - 50% of patients with IBD and anterior uveitis will conjunctival, usually does not blanch with
can be evident as inflammation in all of the ocular be HLA-827 positive. phenylephrine 2.5%), severe tenderness to ocular
tissues. The most common ocular associations -Ocular inflammation in 18D is also strongly palpation, anterior chamber cell and flare.
include non-granulomatous anterior uveitis (e.g., associated with HLA-858 and HLA-DRB10103 (3). Occasionally can be necrotizing and painless.
iritis). epistleritis, scleritis, keratitis, retinal vasculitis,
GENERAL PREVENTION Posterior scleritis can lead to an exudative retinal
and posterior uveitis.
Control of IBD flares and chronic disease activity. detachment
Unless indicated, CD and UC will be discussed as
part of the same clinical spectrum (IBD) in regard to Keratitis
PATHOPHYSIOLOGY - Conjunctival injection, corneal epithelial defect.
the ~e. An imbalance of inflammatory mediators leads to corneal stromal infiltrates, anterior chamber cell
EPIDEMIOLOGY nonspecific inflammatory infiltrates in affected tissues, and flare
resulting in edema, local destruction, and tissue
Prevalence Retinal vasculitis/posterior uveitis
dysfunction.
IBD has a prevalence of 7o-150 cases per 100,000 - Posterior chamber cell, vitreous snowballs or
persons. ETIOLOGY snowbanks, retinal vascular sheathing, macular
3.5-11.8% of patients with IBD will have ocular Idiopathic edema
inflammation at some point. - IBD is generally thought to be secondary to an
Ophthalmic manifestations are infrequently the environmental trigger in genetically predisposed
presenting complaint leading to a diagnosis of IBD. individuals that results in a pro-inflammatory Lab
response. No lab tests are useful in the diagnosis of ocular
UC appears to have less associated ocular manifestations in IBD.
inflammation than CD. COMMONLY ASSOCIATED CONDITIONS
Episcleritis is the most common extra-intestinal Imaging
HLA-827 arthropathies
manifestation of IBD (up to 29%) and is reported to If posterior scleritis is suspected, 8-scan ultrasound
Malabsorption syndromes of the eye may demonstrate a T-sign, caused by
be closely correlated to disease activity, but is not Chronic anemia
often seen by clinicians due to its relatively posterior peribulbar edema.
Osteoporosis If retinal vasculitis is suspected, a fluorescein
asymptomatic nature.
Colon cancer angiogram preformed by a retina specialist may be
Anterior uveitis is the most common extra intestinal
Primary sclerosing cholangitis useful.
manifestation of IBD seen by clinicians and is more
common in women (1 ). Erythema nodosum DIFFERENTIAL DIAGNOSIS
Approximately 2% of all uveitis cases are reported Depression Infectious or allergic conjunctivitis
to be secondary to IBD (2). Idiopathic anterior uveitis, episcleritis, scleritis,
RISK FACTORS ~ DIAGNOSIS posterior uveitis, retinal vasculitis or optic neuritis; or
one of the above associated with an alternate
Active intestinal IBD is associated with, but not
required for, ocular manifestations. HISTORY systemic inflammatory condition (sarcoidosis,
Episcleritis tuberculosis, etc.)
Presence of other extra-intestinal manifestations,
- Epibulbar injection, foreign body sensation. No Infectious keratitis
such as arthritis or erythema nodosum, are
associated with a higher risk of ocular involvement pain or blurred vision
(3). Anterior uveitis
-Aching pain, photophobia, blurred vision
Genetic (see below)
Scleritis
- Deep boring pain, ocular tenderness. headache,
photophobia, blurred vision
Keratitis
- Sharp, superficial pain, photophobia. No other
source of keratitis by history (contact lenses,
trauma)
Retinal vasculitis/posterior uveitis
-Aching pain, blurred vision. No infectious source
(prior surgery, trauma, endogenous)
226
CROHN'S DISEASE & UC
4. Ghanchi FD, Rembadrl!n BJ. Inflammatory bowel

. TREATMENT ONGOING CARE disease and the eye. Surv OphtiJalmol2003;
48:663-676.
MEDICATION FOLLOW-UP RECOMMENDATIONS 5. Barrie 8, Regueiro M. Biologic therapy in the
RrstLine Patients with ocular manifestations of IBD should be management of extraintestinal manifestations of
Episcleritis seen by an ophthalmologist until the inflammation is inflammatory bowel disease. lnffamm Bowel Dis
- Antllclal tears 1 drop q.l.d escalatlng to
prednisolone acetate 1% 1drop q.i.d if needed
resolved.
There Is no evidence supporting saetnlng patlents
2007;13:1424-1429.
6. Chadhas V, Cruikshank I, Sw1ngler R, et al.
c
Anterior uveitis with I8Dfor ocular manifestations. Advanced glaucomatous visual loss and oral
- Prednisolone acetate 1% 1 drop M!ry hour, taper Patient NIDnltorlng rortkosteroids. BMJ 2008;337:670.
as inflammation is controlled. Scopolamine 0.25% o Patients with uveitis and/or with long-term high 7. Lin P, Tessler HH, Goldstein DA.. Family history of
or cyclopentolate 1% 1drop twtce a day for dose oraI corticosteroid therapy are at risk for inflammatory bowel disease in patients with
cycloplegia and synechiae prevention developing cataracts (a reversible cause of visual idiopathic ocular inflammation. Am J Oi/lthalmol
Scleritis loss) and glaucoma (a nonreversible cause of visual 2006;141(6):1097-1104.
- Oml NSAIDs (ibuprofen 800 mg PO ti.d or loss).
indomethacin 25 mg PO t.i.d). There are no evidence-based recommendations
-Topical steroids are generally not effective and regarding glaucoma screening in patients on ADDITIONAL READING
may predispose to sderal tlllnnlng. long-term oral corticosteroids. The risk of developing Latkanlty PA. Jabs DA. OOJ lar manifestations of
Keratitis glaucoma Increases w1th treatment duration inflammatory bowel disease. In: Bayless TM,
- Epithelium intad - prednisolone acetate 1% (espedally > 1 yea~. treatment dose. and Hanauer SB, eds. Advanced therapy of irrflammatory
frequency dependent on severity pre-treatment morbidity (age. preexisting glaucoma bowel disease. Hamilton, Ontario: BC Dedcer Inc.,
-Epithelial loss- prednisolone acetate 1%, topical or ocular hypertension and connective tissue 2001:275-277.
antlblotlcs, and possibly oral steroids disorders) (6)[C].
Posterior uveitis/retinal YCSOJiitis PATIENT EDUCATION
- Oml steroids, intravitreal or sub-tenons steroid Crohn's and Colitis Foundation of Ame~ca- Patient . CODES
Second Una lact sheet on eye diseases
Anterior uveitis. scleritis, keratitis, posterior uveitis, - http://Www.cda.orglframeviewernurl=.lmed ial ICD9
and retinal vasculitis. pdi/FactSheetslt!jeS.pdf 555.9 Regional enteritis of unspecified site
- Oral steroids (4)[C] A family history of IBD is an independent risk factor 556.8 Other ulcerative colitis
- Azathioprine, cydosporine. methotrexate for the dM!Iopmem of Idiopathic weltls, scleritis, 558.9 Other and unspedfied noninfectious
- Anti-TN Fagents (5)[C) and lceratltls (7). gastroenteritis and colitis
fll'egnancy Considerations PROGNOSIS
Patients wl1o are pregnant should practice punctual Good
occlusion when Instilling topical f!je drops to minlmlze - Most patients with ocular manifestations of IBD CLINICAL PEARLS
systemic effects. lmmunosuppressive therapy should are treatment-responsive at some IM!I and Antet1or uveitis Is the most common dlnlcally
be used with extreme caution in pregnant patients. rna lntaln their 'llsual acuity. encountered ocular manifestation of IBD.
ADDITIONAL TREATMENT COMPUCATIONS Treatment witll topical or systemic corticosteroids is
ISsues for Refei'I'IJI o Glaucoma and cataracts secondary to long-term usually effective in controlling oOJiar inflammation
ReferraI to a comprehensive ophthaImologlst should oraiJtopical steroids or prolonged intraocular secondary to IBD.
be strongly considered for all suspected ophthalmic inflammation Infection must be ruled out before starting topical
manifestations of 180. Marular edema secondary to inflammation oOJ lar steroid draps.
o Phthisis bulbi in a chronically inflamed eye Glaucoma and cataract are long-1erm complications
af inflammation and/or topical or systemic steroid
lntrav!treal or sub-Tenons steroid Injection may be therapy.
considered by a retinal specla list for reca lcttrant ()(lllar REFERENCES
inflammation.
1. Bernstein CN, Blanchard JF, Rawsthome P, etal.
IN-PATIENT CONSIDERATIONS The prevalence of extraintestinal diseases in
Patients with lBO associated ocular inflammation do inflammatory bowel disease: A population-based
not usually require hospital admission. study. Am J Gastroentero/2001; 96(4):1116-1122.
2. McCannel CA. Holland GN, Helm CJ, et aI. Causes
of uveitis in the general practice of ophthalmology.
Am J Ophthalmol 1996; 121 :35-46.
3. Orchard TR, Chua CN, Ahmad T, et al. Uveitis and
erythema nodosum in inflammatory bowel disease:
Clinical features and the role of HLA genes.
Gasrroenrero/ogy 2002;1 23(3):714-718.
227
CROUZON SYNDROME
Deepak P. Grover
Lab
Molecular analysis for FGFR2 mutation
DESCRIPTION HISTORY -Although the mutation is present in more than
Crouzon syndrome, a craniosynostosis disorder, is Craniofacial abnormalities are often present at birth
50% of patients with Crouzon syndrome, it may
characterized by premature closure of calvarial and and may progress with time. also be present in Apert syndrome, Pfeiffer
cranial base sutures, as well as those of the orbit Headaches and loss of vision secondary to elevated syndrome, and Jackson-Weiss syndrome.
and maxillary complex. intracranial pressure -All patients with associated acanthosis nigricans
Distinctive malformations of the skull and facial Decreased mental function have an Ala391 Glu mutation within the
region are its hallmark. Visual disturbance secondary to excessive exposure transmembrane region of the FGFR3 gene.
EPIDEMIOLOGY of cornea or conjunctiva leading to ocular redness
Imaging
and irritation or burning sensation
lnddence Initial approach
Unexplained loss of visual acuity or double vision Skull radiography- to show synostosis, craniofacial
1 case per 60,000 live births.
Hearing loss secondary to ear canal stenosis or deformities, digital markings on skull, widening of
Prevalence atresia hypophyseal fossa, small paranasal sinuses.
1 case per 25,000 population.
PHYSICAL EXAM maxillary hypoplasia, and shallow orbits
RISK FACTORS Common ophthalmic features Spine radiography- to show fusion of the vertebral
Genetia - Proptosis secondary to shallow orbits bodies and posterior elements
It may be transmitted as an autosomal dominant - Divergent strabismus or exotropia limb radiography- to demonstrate subluxation of
disorder with complete penetrance and variable - Ocular hypertelorism the radial head
expressivity, or appear as a new mutation. Crouzon - Exposure keratitis or conjunctivitis CT head/orbits with 3-dimensional reconstruction -
syndrome has no race or sex predilection. Common facial features to define pathologic anatomy
Caused by mutations in the fibroblast growth factor - Midfacial hypoplasia secondary to small, MRl brain -to show corpus callosum agenesis and
receptor-2 (FGFR2) gene, which is mapped to underdeveloped maxilla optic atrophy
chromosome locus 1Oq2 5-1 Oq26. - Beaked nose Follow-up a spec:ial cansideretions
50% of incidents are not inherited and are the result - Short upper lip Genetics evaluation.
of new mutations. -Relative mandibular prognathism secondary to
protrusion of the lower jaw Diagnostic Procedures/Other
GENERAL PREVENTION laryngologic examination with audiography
Other manifestations
Genetic counseling. Sleep study to evaluate for obstructive apnea
- Upper airway obstruction
PATHOPHYSIOLOGY - Obstructive sleep apnea which can often present Ophthalmologic examination
Premature closure of cranial sutures. most commonly in infancy General physical examination with ECG
the coronal and sagittal sutures. results in abnormal - Papilledema or optic atrophy secondary to Psychiatric examination and psychological testing
skull growth of the orbits and maxillary complex. The elevated intracranial pressure EEG -low-voltage, increased convulsive excitability
degree of deformity is dictated by the order and rate of - Progressive hydrocephalus
- Chronic tonsillar herniation Pathological Findings
suture fusion. Growth perpendicular to a fused suture Immunohistochemical analysis of cranial sutures,
is restricted promoting compensatory growth at the - Hearing loss secondary to recurrent ear infections
- Crowding of the upper teeth performed with labeled antiFGFR2 antibodies,
remaining open sutures (1)[B]. demonstrates that sutures obtain lower levels of
- V-shaped maxillary dental arch
ETIOLOGY - Narrow, high, or cleft palate FGFR2 activity in both stenosed and nonstenosed
See "Genetics. - Bifid uvula sutures.
- Cervical vertebral body fusions Histological features of acanthosis nigricans
COMMONLY ASSOCIATED CONDITIONS demonstrate hyperkeratosis, acanthosis, and
Acanthosis nigricans is the main dermatologic papillomatosis. There are increased pigment cells in
manifestation of Crouzon syndrome. the upper dermis of the basal layer.
-Characterized by thickened, velvety, light-brown
to black markings on the neck, under the arms, or
in the groin
- Detectable after infancy
228
CROUmN SYNDROME
DIFFERENTlAL DIAGNOSIS SURGERY/OTHER PROCEDURES COMPLICA110NS

Apert syndreme Brain compression and mental retardation may
-Craniosynostosis combined with s~actyly of t11e Cranlofadal and neurosurgical Intervention w1tl1 t11e result In severely affected Individuals unless relieved
hands and feet involving second, tl1ird, and fourth goal to stage reconstruction to correlate witl1 facial by early craniectomy.
digits growth patterns, visceral function, and psychosocial
development (1)[BJ. Upper airway obstruction can lead to acute
Heiffer syndrame respiratory distress.
-Craniosynostosis combined with broad thumbs -In the first year of life, it is preferable to release
the synostotic sutures of the skull to allow
Increased intracranial pressure and optic atrophy C
and great toes, complex cardiovascular may occur secondary to a disproportion between
malformations and variable partial soft tissue adequate aanlaI volume to promote brain growth craniostenosis and growing brain matter.
syndactyly of the hands and feet and expansion. This can be performed with Postoperative complications
C111penter qrndrom fronto-<Jrbital advancement with cranial - Postoperative hydrocephalus and elevated
-Craniosynostosis combill@d with craniofacial decompression. intraaanial pressure
dysmorphism, finger and toe abnormalities. heart - Subsequent development of midfacial hypoplasia - Cerebrospinal fluid leak
defects, growth and mentaI retardation. may be repaired wltl1 the Le Fort Ill osteotomy, - Resplratol"f distress
Saethre-Chotzen syndrame monoblocfrontofaclal advancement or bipartition - Wound infections. extradural abscess. frontal bone
- Cr.miosynostosis combined with low-set frontal osteotomy. osteomyelitis. periorbitaI abscess
hair Iine. deviated nasal septum, wriable facial o Endoscopy before midface advancement is - Blindness. diplopia, fildal nerve palsy
asymmetry and partial cutaneous syndactyly recommended to identify airway obstruction
rJ TREATMENT
that may Interfere with respiratory Improvement
alter mklface advancement (3)[8).
- Ea~y aaniectorny with frontal bone advancement
may be needed to prevent or treat inaeased
REFERENCES
1. Bowling E. Burnstein F. Crouzonsyndrome.
Optometry 2006;77:117-112.
imracranial pressure secondary to multiple suture 2. Ahmed J, Marucci D, Cochrane L, et al. The role of
General Meuutes synostoses and fused synchondroses.
Early detection and management of amblyopia and the nasopharyngeal alrway for obstructiYe sleep
- SlwII reshaping may be repeated as the chi kl apnea in syndromic aaniosynostosis. J Craniofac
refractive error grows.
NasaI continuous positive airway pressure device to Surg 2008;19(3):659-663.
rei ieve obstructive sleep apnea IN-PATIENT CONSIDERATIONS 3. Ban nink. N, Nout E, Wolvi us EB, et aI. ObstructiYe
Initial Stabilization sleep apnea in children with s~romic
Nasopharyngeal airway as a better tolerated cran losynostosls: Long-term respiratory outcome of
Admit for surgical intervention
treatment modality in the management for mldface advancement /nr1 Oral Max/1/ofac Surg
-Shunting procedures for hydrocephalus
obstructive sleep apnea (2)[BJ - Tracheostomy for airway compromise 201 0;39(2):11 5-121.
Speech mana~ent
Issues for Refetral
Neurosurgeon ONGOING CARE . CODES
Neuroradiologist FOLLOW-UP RECOMMENDATIONS
Neurologist Ophthalmology and neurology for longte11n ICD9
aphthaImologist monitoring. 378. 10 Exotropia, unspedfied
0romaxillofacial surgeon 743.66 Specified congenital anomalies of orbit
l'lltient MonifDring
Genetic specialist 756.0 Congenital anomaIies of skull and face bones
Monitor postoperative complications.
Psychiatrist
DIET
Stomatologist No spedaI diet is required. CLINICAL PEARLS
L.aryngalogist
PROGNOSIS Unlike some other forms of craniosynostosis, there
Depends on t11e severity of the malformation are no digital abnonmalities with Crouzon syndrome.
Pa-tients usually haYe a nonmallifespan Surgical intervention for craniofacial reconstruction
is staged to correlate with fadaI growth patterns.
visceral function, and psychosodal development.
Close monitoring of neurological and respir.rtory
complications is fundamental for an overall good
prognosis.
229
CRYSTALLINE KERATOPATHY
Michel J. Belliveau
Jacky Y. T. Yeung
Stephanie Baxter
~ BASICS
PATHOPHYSIOLOGY DIAGNOSTIC TESTS 8r INTERPRETATION
Implantation and colonization of interlamellar spaces Lab
by microorganisms. The organisms are typically Initial lab tests
DESCRIPTION nonvirulent bacterial and fungal species. Extracellular Corneal scraping
There are 2 broad categories of crystalline matrix secretion and biofilm fonnation mask the - Send for culture and sensitivity
keratopathy: antigenic stimuli and likely contribute to the Lamellar biopsy
- Infectious type characteristically scarce inflammatory response, in - Send for culture and sensitivity and histopathology
- Deposition type conjunction with the anti-inflammatory effects of
Consider lipid profile (Schnyder's crystalline
When discussing crystalline keratopathy, it is steroids. dystrophy) and protein electrophoresis (monoclonal
generally accepted that one is referring to the gammopathies)
ETIOLOGY
infectious type. unless otherwise stated.
Streptococcus viridans (a-hemolytic) Follow-up ll special considerations
-Synonym: Infectious crystalline keratopathy (ICK)
Candida sp Routine culture growth often unsuccessful:
Branching, crystalline corneal opacity caused by
Nontuberculous mycobacteria - May require specific nutrient (pyridoxal) for
interlamellar colonization by microorganisms
Other gram-positive and gram-negative bacteria viridans streptococci (1)
without significant adjacent stromal inflammation
may be polymicrobial -Lowenstein-Jensen agar for isolation of
EPIDEMIOLOGY nontuberculous mycobacteria
Incidence If cystinosis is suspected, examine conjunctival
Corneal transplantation
Unknown. uncommon biopsy, WBCs. or bone marrow for cystine crystals.
If Bietti crystalline corneoretinal dystrophy is
RISK FACTORS
Corneal graft ~ DIAGNOSIS suspected, do visual fields and electroretinography.
Chronic topical steroid use Imaging
HISTORY Anterior segment photography
Refractive surgery Typically insidious onset of vision loss and/or
Contact lens wear Corneal optical coherence tomography, laser
identification of a corneal opacity in the setting of
Topical anesthetic abuse confocal microscopy
known risk factors
Acanthamoeba keratitis (co-infection) Diagnostic Procedures/Other
PHYSICAL EXAM Ocular evaluation:
Prior herpes simplex virus (HSV) keratitis White, branching, crystalline opacity in the anterior
Systemic immunosuppression - Polymerase chain reaction of corneal scrapings
stroma
Systemic evaluation:
GENERAL PREVENTION Lack of significant inflammation
- CBC and differential
Prudent steroid use Slow expansion - Protein electrophoresis
Routine follow-up Rarely keratic precipitates or anterior chamber cells - Lipid profile
if posterior location -Uric acid
- Bone marrow aspiration
ICK- anterior stroma shows distended interlamellar
spaces filled with microorganisms and without
significant adjacent inflammation
230
CRYSTALLINE KERATOPATHY
DIFFERENTlAL DIAGNOSIS SeCDIId Une ADDITIONAL READING

Infectious keratitis: May mnsider systemic antibacterial or antifungal
- Bacteriai-ICK agents If refractory to topical treatment Bron AJ. Inherited dystrophies and developmentaI
-Fungal anomalies of the cornea, In: Tasman W, Jaeger EA,
-Viral eds. Duane's ophthalmology. foundations (}{ dinical
- Protozoan - Acamhamoeba GenersfAfeasures
Suspend immunosuppressive medication (e.g., topical
ophthalmology, Lippincott Williams & Wilkins,
201 0;3: chapter 63.
C
Deposition:
-Acquired immunoprcll!in la!ratopathil!s- multiple sll!roids) if possible Grimmett MR. Hematologic disorders. In: Krachmer
myeloma, essentlaI ayobull nemla, and other Additional Thel'flpies J, Mannis M, Holland E, eds. Comea: Fundamentals
monoclonal gammopathies Possible Nd:YAG laser for crystal disruption of ICK (2) and medical aspects of axnea and external disease,
-Lipid la!ra1opathies- Schnyder's crystalline Mosby, 2004;1.
dystrophy, Tangier disease, familial lipoprotein Eariy surgical debrldement and culrure are advised, Kaiser-Kupfer Ml, Gazzo MA. Datiles MB, et al. A
disorders especially for post-LASIK patients. randomized placebo-controlled trial of cysteamine
- Drugs deposition - dprofloxacin, ctuysiasis, eye drops in nephrcpathic cystinosis. Aich
FuII thidmess or partial thickness anll!rior lamellar
chloroquine, chlorpromazine Ophthalmal t 990;1 08:669.
- Ernn of pro!!!In metabolism - cystinosis. keratoplasty may be required for severe and/or
tyrosinemia, hyperuricemia, gout refractory cases.
-Miscellaneous dystrophies and metabolic & cODES
abnonmalities- posterior aystalline corneal ONGOING CARE
dystrophy, Bietti O)Stalline corneoretinal ICD9
dystrophy, cald um deposition, porphyria, oxalosis FOLLOW-UP RECOMMENDATIONS 371 .00 Corneal opacity, unspedfll!d
Long-term follow-up required for treatment
371.49 Other corneaI degenerations
failune:
. TREATMENT -Corneal graft follow-up: Possible rejection or
recurrence
MEDICATION CLINICAL PEARLS
First Line PROGNOSIS
Guarded due to chronic. rewrrent nature of most ICKis the most mmmon presentation of crystalline
Tailor treaunem Is performed according to specific
crystalline keratopath les keratopathy, and it is very uncommon.
organism illcnown.
ICKis often slaw to resolve and requires treatment
Duration of treatment often requires weeks to COMPLICAnONS for a prolonged period of time.
months with slaw taper. FaiIure or rejection of corneaI graft
Deposition crystal! ine keratopathy may be the initiaI
Bacll!rial: presentation of cystinosis or multiple myeloma.
- Depending on severity of disease, consider broad
spectrum fluoroqulnolones (e.g., gatlfloxadn, REFERENCES
moxifloxadn) as initial therapy 1. Ormerod LD, Ruoff KL. Meisler DM, et al. Infectious
May also add/replace with: crystalline la!ratopathy. Role of nutritionally variant
- Gram +ve: cefazolin 50 mg/ml or va neomycin streptococci and other bacterial factors.
25-50 mgfml 1gn per 1 h Ophthalmology 1991 ;98: 159-169.
-Gram -ve: gentamidn or tobramydn 14 mgfml 2. Masselos K. Tsang HH, Ooi Jl.., et al. Laser mmeal
1gttper 1 h biafi lm disruption for infectious crystalline
- See the chapter on Bacll!rial Keratitis. kerat:opathy. Clln Expetfment Ophthalmol2 009;
Fungal: 37(2):177-180.
- Ampholl!ricin B0. t 5% or voriconazole 0.5-t%
per 1 to 2 h drops for candida
- See the chapter on Fungal Keratitis.
231
CYSTOID MACUlAR EDEMA
Mimi Liu
~ BASICS ETIOLOGY
May occur after any type of ocular surgery, including
laser.
Lab
None for post-op CME
DESCRIPTION Uveitis, retinal vasculitis If clinical suspicion is present for uveitis,
Accumulation of fluid within and under the Diabetic retinopathy hypertension, retinal venous occlusion, or
perifoveal region causing decreased acuity. Exudative age-related macular degeneration undiagnosed diabetes, laboratory studies may be
Changes are often visible on clinical examination indicated.
Retinal vein occlusions
but sometimes may only be evident on fluorescein
Retinitis pigmentosa Imaging
angiography (FA) or optical coherence tomography
(OCT). Retinal telangiectasis (Coats' disease) Initial approach
Cystoid macular edema (CME) is a final common Venous or arterial macroaneurysms OCT: Increased foveal thickness, cystic spaces in
Drugs (tamoxifen, niacin, betaxolol, epinephrine, outer plexiform layer, and subretinal fluid
pathway of various retinal disorders. The most
common cause is postoperative CME. dipivefrin, prostaglandin agonists) Fluorescein angiogram: Most cases of pseudophaldc
Macular pucker, vitreomacular traction CME will show late intraretinal pooling of dye in a
EPIDEMIOLOGY Radiation retinopathy petaloid fashion, as well as hyperfluorescence of the
Incidence Other (intraocular tumor, systemic hypertension, optic nerve.
CM Emay be detected by FA in up to 20% of serous and rhegmatogenous retinal detachments) Causes of CM Ewithout leakage on FA include
uncomplicated cataract surgery cases. nicotinic acid retinopathy, docetaxel, X-linked
Optic nerve head abnormalities (optic pit, coloboma,
Clinically significant CME (vision worse than 20/40) retinoschisis, and Goldmann-Favre disease.
diabetic papi llopathy)
occurs in up to 2.4% of patients after Follow-up ll special considerations
Pseudo-eM E(no leakage seen in: Nicotinic acid
uncomplicated phacoemulsification (1). OCT is helpful for monitoring response to treatment
retinopathy, docetaxel, X-linked retinoschisis. and
RISK FACTORS Goldmann-Favre disease) and for evaluating CME caused by an epiretinal
Complicated cataract surgery (vitreous incarceration, membrane or vitreomacular traction.
iris trauma, long-operative times, prior history of
intraocular inflammation) ~ DIAGNOSIS Pathological Findings
May be intracellular (Muller cells) or extracellular
Diabetes HISTORY accumulation of fluid.
Other retinal vascular disease Recent intraocular surgery or lasers? DIFFERENTIAL DIAGNOSIS
Intraocular inflammation History of diabetes, uveitis, radiation, hypertension? Diabetic macular edema
Macular pucker Medication history: Does it include tamoxifen, Retinal venous ooclusions
Preoperative use of topical prostaglandin agonists niacin, betaxolol, epinephrine, dipivefrin, Macular pucker
Genetia prostaglandin agonists, docetaxel? Exudative AMD
Unknown Any family history of CME? Chronic retinal detachment
GENERAL PREVENTION PHYSICAL EXAM Other (intraocular tumor, systemic hypertension,
Postoperative topical steroids and nonsteroidal Foveal thickening serous and rhegmatogenous retinal detachments)
anti-inflammatory drugs (NSAIDs) Cystic spaces in the perifoveal area Optic nerve head abnormalities (optic pit, coloboma,
Consider preoperative topical NSAI Ds Evaluate for signs of retinal vascular disease diabetic papillopathy)
(diabetic retinopathy, retinal vascular occlusion, Pseudo-CM E(no leakage seen in: Nicotinic acid
PATHOPHYSIOLOGY retinal telangiectasis, or macroaneurysm) retinopathy, docetaxel, X-linked retinoschisis, and
Not completely understood. Theories of contributing Goldmann-Favre disease)
Evaluate for signs of intraocular inflammation
factors include uv light exposure, mechanical vitreous -See Algorithm.
traction, and inflammation leading to vascular Evaluate for occult retinal detachment and
instability/breakdown of the blood aqueous barrier. intraocular tumors
232
CYSTOID MACULAR EDEMA
SURGERY/OTHER PROCEDURES 4. Warren KA. Bahrani H, Fox JE. NSAIDs in

. TREATMENT Nd:VAG vltreolysls may be helpful In eyes with combination tl1erapy for the treatment of chronic
vitreous to cataract wound. pseudophakic cystoid macular edema. Retina
MEDICATION Focal and/or grid laser is useful in CME 201 0;30;260-266.
RrstLine predominantly relatl!d to diabetk macular edema 5. Artunay 0, Yuzbasioglu E, Rasier R. et al.
Treatment outlined below focuses on post-<lP CME. and retinal vein ocdusions.. lntr.Mtreal ranibizumab in the treatment of cystoid
I
70% of post-cataract CMEresolves spontaneously Vitrectomy and membrane peel macular edema associated with retinitis
witl1 in 6 months. UsefuI In diffuse DME, mac.ular pucker, vltreomacular plgmentosa. J Ocul Pharmaco/ Ther 2009;25:
Treat if symptomatit witl1 decreased vision or traction, and in cases of post-<Jp CME unresponsive to 545-550.
metamorphopsia. other treatment modalities.
Trial of topical steroids (prednisolone t% q.i.d, or ADDITIONAL READING
dlfluprednate q.l.d) and topical NSAIDs (dlclofenac $ ONGOING CARE
0.1% t.i.d, ketorolac 0.4% t.i.d, nepafenact.i.d Benitah NR, Arroyo JG. Pseudophakit cystoid
(2)[C], or bromfenac 0.0!1% b.i.d). Use in FOLLOW-UP RECOMMENDATIONS macular edema. tnt Ophthaimo/ Clin 201 0
tombination for 4--6 Wl!eks. l'lltient Monitoring Winter; SO:139-1 53.
Consider stopping prostaglandin agonists and other Every H Wl!eks until CMEresolves, then as needed Johnson MW. Etiology and treatment of mac.ular
exacerbating medications. O<:ular steroids may tause aculeraticn of tataract edema. Am J Ophthillmol 200!1;147:11-21 .
Second Line formation and may increase the intraocular pressure.
Periocular steroids (triamdnolone 4{) mg) or PROGNOSIS
intravitreal steroids (triamd nolone 4 mg) Usually good for post-<lp CME.
. CODES
lntravitreal anti-VEGF agents (bevadzumab
1.25 mg) (3)[8] ICD9
REFERENCES 362.18 Retinal vasculitis
Steroids and anti-VEGF may be used simultaneously 362.53 Cystoid mac.ular degen eratlon af retina
or sequentially while CDntinuing topical therapy 1. Henderson BA, Kim JY, Ament CS, et al. Clinical
(4)[C]. pseudophakic cystoid macular edema. Risk factors 364.3 Unspedf!ed iridocyclitis
Repeat treatments may be necessary at 1 (for for development and duration after treatment.
bevadzumab) to 3 mont11s (lor depot steroids) 1 Cataract RefractSurg 2007;33(9):155Q-1558.
Intervals. 2. Ha~prasad SM, Akduman L, Clever JA, et al.
CLINICAL PEARLS
Treatment of cystoid macular edema wltl1 the CMEis the final patl1way for a variety of prevalent
ADDITlONAL TREATMENT new-generation NSAID nepafenat 0.1%. Clin retinal disorders..
lssuu for Referral Ofirthalmol 200!1;3:147-154.
Consider referral to a vitreoretinal spedalist if CME is Post-op CME is often subd inical and self-limited.
3. An!Vl!lo JF, Maia M, Garda-Amaris RA. et al. Symptomatic post-op CME are treated with a
not responsive to topical treatment. or if tl1ere are lntravitreal bevacizu mab for refractory
coeJdstlng conditions such as DME, uveitis, ret! nal step-wise approad'l using topical therapy first.
pseudophaldc cystoid macular edema: The Second line therapy includes subtencn's steroid
vasrular ocdusions, and others. Pan-American Collaborative Retina Study Group injection, or intravitreal steroid, and/or anti-VEG Fin
Additional Therapies results. Ophthalmology 200!1;116;1481-1487. mmbination with tDpitaltreatment.
Acetazolamide 25Q-500 mg b.i.d may be bene1kial
in post~p CME.
Oral acetazolamide 250-500 mg b.l.d for CME
associated with retinitis pigmentosa
lntravitreal ranibizumab 0.5 mg may be useful for
CME associated witl1 retinitis pigmentosa (5)[C].
233
CYTOMEGALOVIRUS (CMV] RmNinS
AmroA/i
Steven T. Bailey
~ BASICS
ETIOLOGY Diagnostic Procedures/Other
Cytomegalovirus beta-hellJes virus. If clinical diagnosis unclear, polymerase chain reaction
(PCR) of vitreous or aqueous humor samples can
DESCRIPTION COMMONLY ASSOCIATED CONDITIONS
detect CMV.
Cytomegalovirus (CMV) retinitis is a full thickness CMV pneumonitis
retinal necrosis resulting in progressive vision loss. CMV colitis and esophagitis DIFFERENTIAL DIAGNOSIS
CMV transverse myelitis and meningoencephalitis Acute retinal necrosis (HSV or VNJ
CMV is an ubiquitous herpes virus.
Congenital CMV infection Progressive out retinal necrosis (VZV)
Retinitis occurs in immunosuppressed hosts, typically
those infected with human immunodeficiency virus HIV-associated retinopathy
(HIV) and a CD4+ count <50 cells/ml.
Leading cause of acquired immunodeficiency
~ DIAGNOSIS

Syphilis
Toxoplasmosis
syndrome (AIDS) related blindness HISTORY Endophthalmitis
Treated with immune reconstitution with highly May be asymptomatic Tuberculosis
active anti-retroviral therapy (HAART) and anti-CMV
medications
EPIDEMIOLOGY

Decreased central or peripheral vision
New onset of floaters
AIDS with CD4+ count <50 cell/ml
Leukemia, lymphoma, and aplastic anemia
rJ TREATMENT
MEDICATION
lnddence
AIDS patients pre-HAART era: 30% lifetime Organ transplant recipient First Line
probability Systemic immunosuppression chemotherapy HAART na'ive with Zone I disease: lntravitreal
HAART era: Reduced incidence by 75-80% ganciclovir implant 4.5 mg with oral valganciclovir
PHYSICAL EXAM (1) (see dose below)
Much less common in non-HIV immunosuppressed Visual acuity: Decreased or normal
individuals Heart na'ive with Zone 111111 disease: Valganciclovir
Confrontation to visual fields: Decreased or nonmal oral 900 mg b. i.d for 3 weeks followed by
RISK FACTORS Afferent papillary defect may be present maintenance dose of 900 mg per day (2)
HIV+ with CD4 <50 cellslml Typically minimal anterior and/or vitreous HAART experienced with Zone 1 disease: Ganciclovir
HIV-associated microvasculopathy inflammation implant with oral Valganciclovir
Organ transplant recipients Fulminant retinitis with retinal edema. retinal HAART experienced with Zone 11/111 disease: Oral
Steroid treatment hemorrhage, and vasculitis Valganciclovir +1- ganciclovir implant
Systemic chemotherapy Indolent/granular retinitis with faint grainy retinal zone 1disease: May also consider intravitreal
Malignancies, that is, leukemia, lymphoma opacification ganciclovir injection 2 mg/0.1 ml twice weekly or
Zone 1: Within 3000 microns from fovea foscarnet 2.4 mg/0.1 ml twice weekly until
GENERAL PREVENTION ganciclovir implant available
Zone II: Peripheral to zone 1 to vortex veins
Safe sex practice
Zone Ill: Peripheral to zone 2 to ora serrata Valganciclovir toxicities: Renal toxicity, neutropenia,
Avoid contact with bodily fluids anemia, thrombocytopenia
Ophthalmic examination with dilated fundus DIAGNOSTIC TESTS It INTERPRETATION
Initiate HAART or alter HAART if ineffective
examination for high risk individuals Lab If HAART naive, consider treatment of CMV retinitis
HIV Serology (if unknown)
PATHOPHYSIOLOGY prior to HAART to limit immune recovery uveitis
CMV transmission: Transplacental, contact with CD4+ T-lymphocyte count
bodily fluids, blood transfusion, organ transplant HIV ribonucleic acid (RNA) blood level
Immunosuppressed host susceptible to primary Imaging
infection or reactivation of latent infection Initial approach
CMV reaches eye through the bloodstream Fundus photography
All layers of retina infected resulting in full thickness Follow-up It special considerations
retinal necrosis Serial fundus photographs are useful to evaluate for
Untreated retinitis slowly progressively enlarges over disease progression.
weeks to months
Rhegmatogenous retinal detachment may develop
in 15--40% of eyes
234
CYTOMEGALOVIRUS (CMV) REnNITIS
SecandUne ADDITIONAL READING

Gancldov!r: Inductlon dose 5 mg/kg IV b.l.d for ONGOING CARE
I
14-21 days. OraI maintenance dose: 1000 mg PO Foscamet-Gandclovir Cytomegalovirus Retinitis
t i.d. Intravenous (IV) mainll!nance dose: 5 mglkg IV FOLLOW-UP RECOMMENDATIONS Trial. 4. VIsual outcomes. Studies of Owlar
daily or 6 mg/kg IV 5 dayslweek Those on HAART with CD4+ counts Complications of AIDS Research Group in
Gancldov!r toxicities: Renal toxicity, neutropenia, > 100--150 cellslrn Lfor 3-6 monms may collaboration with the AIDS Clinical Trials Group.
anemia, ttuombocytopenia discontinue me arrti-CMV drugs (3) Ophthalmology 1994;1 01 (7):125D-1261.
Foscamet: Induction dose: 90 mglkg IV b.i.d for Reactivation of CMV retinitis may preserrt with Jabs DA. Ocular manlfesla11ons of HIV Infection.
14-21 days. Malntl!nanee dose: 90 mg./kg IV dally. appearance of a new lesion or expansion of Tr.msAm Ophfhalmol Soc 1995;93:623-6ll3.
Foscamet toxicities: Renal impairmerrt, neutropenia. previously inactive border. Martin DF, Kuppennann BD, Wolitz RA, et al. Oral
anemia, electrolyll! imbalances Reactivation is treall!d with re-induction with ganclclovlr for patients with cytomegalovirus
Cldofovlr: Induction dose: 5 mg/kg IV weekly for antl-CMV medications and possible adjustment In retinitis treall!d with gancidovir implarrt: Roche
2 weeks. Mainrenance dose: s mg/kg IV eve.y HAART to establish immune recovery. ganciclovir study group. N Eng 1Meri
2weeks Evaluall! for gancidovir resistance if treatment 1999;340(14):1 063-10 70.
Cidofovir toxicities: Nephrotoxidty, owlar hypotony, response is inadequate. Martin DF, Sierra-Madera J, Walmsley S, et al. A
and Iritis l'ilfiwlt Monitoring corrtrolled trial of valganddovir as induction therapy
Frequent dilall!d fundus examinations dependerrt on for cytomegalovirus retinitis. N Eng J Med
ADDITIONAL TREATMENT 2002;346(15):1119--1126.
extend of CMV retinitis and degree of immune
Issues for Refeal recovery.
Retina spedalist for evaluation and treatmerrt of
suspected CMV retinitis PATlENT EDUCATION . CODES
Infectious disease specialist to evaluale for other Symptoms a! CM'I retinitis: Floaters, photophobia,
end-organ CM'I relatl!d disease and/or 0111er central or perlpheraI vision loss
ICD9
opportunistic infections Appropriate medication use and side effect profile 053.29 Herpes zoster with other ophthalmic
General internist, oncologist, or hematologist for PROGNOSIS complications
non-HIV related CMV retinitis Dependent on ability of immune recovery - much less 078.5 Cytomegaloviral disease
Additional Therapies likely to lose significant vision in HAART era. 363.13 Dlssemlnated choroiditis and cho~oretlnltls,
Law vision evaIuation for those with substantial vision COMPLICATIONS generalized
loss. Vision loss
SURGERY/OTHER PROCEDURES Retinal detad1men!
Surgical insertion of ganciclovir sustained release Immune recovery uveitis may result in: Macular
CLINICAL PEARLS
Implant -lasts 6--1 0 montlls edema, epl retinal membrane, neovascula~zatlon of Retinitis with paudty of anrerior and vitreous
Surgical repair of retinal detachment may include the retina, and cataract inflammation
vilrectomy, sderal buckle, and silicone oil or gas Slowly progressive
endotam ponade. Immunosuppressed hosts, typically AIDS patients
REFERENCES with CD4+ count <50 cellslml
1. Jabs DA. AIDS and ophthalmology, 2008. Arrh Zone I treated with intravitreal gancidovir, oral
Ophthalmo/ 2008;126(8):1143-1140. Valgancidovir, and HAART
2. PatiI AJ, Sharma A, Kenney MC, et al. valgancidovi r Zone IIIIII treall!d with oral valgancidovir and
in the treatment of cytomegalovirus retinitis in HAART
HIV-infected patients. Clin Ophthalmo/ 201 0;4:
11-119.
3. Holland GN. AIDS and ophthalmology: The first
quarter century. Am J Oph thaimol 2008;145:
397--408.
235
DACRYOCELE
Rudolph S. Wagner
Imaging
Initial approadl
In ttle presence of signs and symptoms of nasal
DESCRIPTION HISTORY airway obstruction
Distended lacrimal sac usually in neonates or very Distended mass with bluish discoloration below the
medial canthal tendon within the medial aspect of - CT or MRI to demonstrate endonasal cyst
early infancy
the lower lid. presenting in a neonate unilaterally or occasionally indicated (4)[A]
With or without associated intranasal cyst
bilaterally Follow-up a special considerations
Also known as dacryocele, lacrimal sac mucocele,
dacryocystocele, or amniotocele May be history of overlying progressive erythema Consider otorhinolaryngology consult to evaluate
and swelling (if infected) nasal cysts
EPIDEMIOLOGY May be history of difficulty breast feeding on Diagnostic Procedures/Other
lnddence mettler's breasts ipsilateral to dacryocele (e.g., right Endoscopic identification of nasal cysts at time of
Incidence unknown breast of woman feeding child with a right surgery (when indicated)
Prevalence dacryocele) due to compression of contralateral
patent nares against nipple Pathological Findings
0.1% of infants with congenital nasolacrimal duct Membranous intranasal cyst wall at inferior meatus
obstruction (NLD) (1)[A] PHYSICAL EXAM with ciliated respiratory epithelium on nasal side and
Palpable mass stratified columnar epithelium on side of NLD
RISK FACTORS - Distended and firm
Unknown - May be tender DIFFERENTIAL DIAGNOSIS
Genetics - Non-moveable Ottler masses in medial canthal area
- Capillary hemangioma (not present at birth,
Usually sporadic - Medial lower eyelid displaced superiorly
- May be signs of NLD obstruction or dacryocystitis rubbery and soft to palpation, and possible
Familial cases have been reported
reddish surface component)
- Mucoid discharge may be expressed from puncta
GENERAL PREVENTION - Dermoid or epidermoid cyst (moveable
or nasal cavity on compression of mass
-Conduct full eye examination with attention to subcutaneous mass. typically superonasal, no blue
Can be detected by prenatal ultrasound (2)[A] discoloration, rarely infected)
possible secondary periorbitaUorbital cellulitis,
- No preventive measures identified - Encephaloceles (typically present above medial
globe displacement, sb'abismus, amblyopia, or
PATHOPHYSIOLOGY canthal ligament, usually with hypertelorism)
induced astigmatism
Congenital distal membranous blockage of
nasolacrimal duct at inferior meatus intranasally
causing lacrimal sac distension and obstruction of the
entrance to the sac by the common canaliculus at
Lab
Initial lab tests
rJ TREATMENT
MEDICATION
valve of Rosenmuller. Antegrade and retrograde CBC with differential and blood culture if
Decompression by firm but careful digital massage
discharge of accumulated secretions prevented. dacryocystitis or cellulitis suspected
(if successful, immediate decompression of mass
Consider additional cultures (rule out sepsis) occurs)
EnOLOGY including urine and cerebrospinal fluid if infection
Congenital membrane or valve (Hasner) obstruction - If dacryocystitis and/or cellulitis present, some
present and child showing systemic signs recommend warm compresses and systemic
related to canalization failure or persistence of
Follow-up a 5pecial considerations antibiotics but in this age group risk for systemic
embryologic membrane.
Monitor for infection infection is high and surgery should be considered
Dacryocystitis ADDITIONAL TREATMENT
Pre-septal cellulitis General Measures
Congenital NLD obsb'uction Monitor and b'eat subsequent NLD obstruction if
- Cystic bulging of the mucosa of the distal present
nasolacrimal duct into the nasal cavity Issues for Refe"a/
- May cause nasal airway obstruction and Consider otorhinolaryngology consult to evaluate
respiratory distress nasal cysts
236
DACRYDCELE

None known 1. Wong RK. VanderVeen DK. Presentation and
FOLLOW-UP RECOMMENDATIONS management of congenital dacryocystocele.
SURGERY/OTHER PROCEDURES As needed if cystic mass r&urs Pedlatrfcs 2008;122:e1108-e1112.
Probing and irrigation with or without nasal 2. Maaenzie PJ, Dolman PJ, Stokes J, et al.
e~doscopy if nonresponse to medical therapy, Patient MonlfDrlng
Care givers to observe for recurrence of cystic Daayocele diagnosed prenatally. Br J Ophthalmo/
a1rway obstruttion, or infettion 2008;92:437-438.
- If not Infected, gentile probing through puncta mass
- Monitor for breathing difficulty 3. Mansour AM, Cheng KP, Mumma N, et al.
into proximal lacrimal sac by common canaliculus
in cases resistant to digitaI message - Monitor for signs of infection Congenital daayocele. A collaborative review.
- May have residua I NLD obstruction Ophthalmology 1991;98:1744-17s1.
Probing under general anesthesia is the mainstay of
surgicaI therapy PATIENT EDUCATION 4. Paysse EA. Coats DK, Bernsetin JM, et al. D
Management and complications of congenital
- NasaI endoscopy useful to visualize nasal cyst and Parents lnstrutted to gently dlgltally massage dacryocele with concurrent int~anasal mucocele.
to guide probe inferior medial canthaI area where cyst was present
JAAPOS 2000;4:46-53.
-Nasal mucocele can be marsupialized under lor a few days to possibly prevent reformation of
dacryocele 5. Levin AV, Wygnanski-Jaffe T, Forte V, et al. Nasal
endoscopic guidance (5)[A] endoscopy in the treatment of congenitallaaima 1
- In office awake nasal endoscopy has been - Parents educated as to signs of infection and
u~gent need for returning to care in that
sac mucoceles. lnt J Pediatr Otathino/aryngol
performed but is technically challenging (6)[8) 2003;67:255-261.
drcumstance
IN-PATIENT CONSIDERATIONS 6. Hain M, Bawnik. V. Warman M, et al. Neonatal
Admission Criteria PROGNOSIS dacryocele with endonasal cyst Revisiting the
Advised if dacryocystitis/periorbital cellulitis 99% complete recovery and resolution of signs and management Am J Oto/a~yngo/ 2011;32(2):
especial~ if signs of systemic infection for
symptoms with su~gery including nasal endoscopy 152-155.
intravenous antibiatics prior to su~gery Success less for probing without endoscopy
Some recommend an additional Intravenous day of (approximately 70-80%)
antibiotics after surgery - May develop signs and symptoms to typical ADDITIONAL READING
nasolacrimal duct obstruction in the future
DlschaiJie Ctfterla o http:/lwwN.pediatrics.org/cgilcontentlfull/122/51
Reduction or resolution of cystic mass and COMPUCATIONS e1108
infection Development of fistulous tract through skin aver
-No evidence of nasal airway compromise distended dacryocele (NOTE: Do not drain
dacryocele through skin) . CODES
Chronic nasolacrimal dutt obstruction
o Pre-septal cellulitis ICD9
- Sepsis/meningitis 375.43 L.aalmal mucocele
- May be transient excavation of Infraorbltal bane
that is palpable after cyst decompressed
CLINICAL PEARLS
Try to decompress the dacryocele with gentle but
firm massage (this may help to avoid a surgical
procedure)
o Ask the mother if she has obseM!d her baby having
breathing difficulty while she is breast feeding. 1his
may suggest the presence of an Intranasal mucocele.
o Consider the use of nasal endoscopy when probing
o Secondary dacryocystitislperiorbitaI cellulitis in a
neonate shau ld be considered an urgent concern
with a risk far systemic spread
237
DACRYOCYSTITIS
Katherine Gold
Jacqueline R. Carrasco
~ BASICS ~ DIAGNOSIS . TREATMENT

DESCRIPTION HISTORY ADDITIONAL TREATMENT
Dacryocystitis is an inflammatory condition of the Acute, chronic, or congenital forms
General Measures
lacrimal sac, usually infectious in nature Pain, redness, swelling over medial canthal region
Oral antibiotics
May occur as sequelae of nasolacrimal duct Epiphora Warm oompresses
obstruction (NLDO), and it may lead to recurrent PHYSICAL EXAM Topical antibiotic ophthalmic drops and/or
episodes Tenderness to palpation over lacrimal sac region ophthalmic ointment
May be chronic, acute, or oongenital Firm nodule inferior to medial canthus IV antibiotics for severe cases, or concern for orbital
RISK FACTORS Purulent discharge from puncta cellulitis
Structural predispositions: May have drainage through dacryocutaneous fistula, SURGERY/OTHER PROCEDURES
- Brachycephalic head which may close spontaneously
- Narrow face with flat nose A seoondary orbital cellulitis may result in an afferent Usually a OCR -external or endonasal - must be
pupillary defect, limited extraocular movement done to avoid recurrence oncethe initial infection has
GENERAL PREVENTION resolved with antibiotic therapy. Although endonasal
There is no preventive counseling prior to a first DIAGNOSTIC TESTS & INTERPRETATION DCRavoids external scars, there are no recent
episode. Once an episode of dacryocystitis has Diagnostic Procedures/Other randomized prospective trials with direct comparison
occurred, undergoing a dacryocystorhinostomy (OCR) Usually a clinical diagnosis of efficacy. A Cochrane Review found mixed data and
procedure in certain cases may help to prevent future paucity of randomized controlled trials (1)[8]. A
If an inflammatory etiology is suspected: ANA,
recurrences. comparison of external DCRwith endonasal
ANCA, ACE, CBC
PATHOPHYSIOLOGY If unresponsive to empiric therapy, may obtain laser-assisted (endocanalkular) OCR found similar
The surfaces of the lacrimal passages are normally cultures of discharge or blood cultures efficacy (92.4 vs. 94.2% respectively) (2)[8[. Routine
colonized with bacteria. When blockage occurs for any CT scan to evaluate for structural abnormalities and biopsy of lacrimal sac at time of OCRis controversial.
reason, and tears do not flow normally through the other obstructive causes, not always necessary. A recent large retrospective review suggests biopsy in
system, dacryocystitis can result. atypical or suspicious cases (3)[C].
Dacryocystography and dacryoscintigraphy may be
EnOLOGY used to help define the lacrimal system anatomy.
Structural midface abnormalities Jones dye test (I or II)
Ethmoidal inflammation Endoscopy to evaluate anatomy by direct
Obstruction, including nasal fractures, impacted visualization
punctal plugs, lacrimal sac tumors, or cysts DIFFERENTIAL DIAGNOSIS
Bacterial: Staph}foroccus epidermidis, Canaliculitis
Staph}facaccus aureus, Streptococci, and Encephalocele
Pneumacacd, as well as gram-negative bacteria and
Lacrimal sac tumor
anaerobes.
238
DACRYOCYSTinS
ADDITIONAL READING CLINICAL PEARLS

ONGOING CARE
Barrett RV, Meyer DR. Acquired laalmal sac fistula Amass below the medial canthal1endon lndIcates
FOU.OW-UP RECOMMENDA110NS after indsion and drainage for dacryocystitis: A infectious etiology, whereas a mass above the
OphthaImologist multicerrter study. Ophtfls/ Plast Reconstr Surg medial canthal tendon may indicate a slowly
Oruloplastic surgeon 2009;25(6):455-457- enlarging mass. such as a tumor of the lacrimal sac.
Patient Monitoring Bharathi MJ, Ramakrishnan R. Maneksha V, et al. Chronic conjunctivitis of unknown etiology may be
See "Follow-up Comparative bacteriology of acute and chronic due to chronic, undiagnosed dacryocystitis. A
dacryocystitis. Eye (lond) 2008;22(7):953-960. diagnostic probing/Irrigation should be performed to
PROGNOSIS Vicinanzo MG, McGwin G, Boyle M, et al. The rule out underlying NLDO and dacryocystitis.
Excellent mnsequence of premature silimne stent loss after Once a patient has had an episode of dacryocystitis,
external dacryocystorhinostomy. Ophthalmriogy they ane at risk for futune attacks if a OCR is not
I
COMPLICATIONS
Orbital cellulitis 2008;1, 5(7}:1241-1244. performed.
If severe Infection, may lead to sepsis and rarely
death
. CODES
REFERENCES ICD9
37 5.30 Dacryocystitis. unspecified
1. Anijeet D, Dolan L.. Macewen 0. Endonasal versus
external dacryocystorhinostomy for nasolacrimal 37 5.32 Acute dacryocystitis
duct obstruction. CodJrane Database Syst Rf'>' 375.42 Chronic dacryocystitis
2011 ;1 :CD007097.
2. Ajalloueyan M, Fartookzadeh M, Pamlzgar H. Use
of laser for dacryocystllrhlnostomy. Arch
Otalaryngol Head Neck Surg 2007;133:340-343.
3. Salour H, Hatami MM, Parvin M, et al.
Cli nimpathologicaI study of lacrimal sac specimens
obtained during DCR. Orbit 2010;29(5):25o-253.
239
DEWN
Robert Eyck Fintelmann
~ BASICS
DESCRIPTION
Episcleritis
Pinguecula
Pterygium
rJ TREATMENT
MEDICATION
Small, saucer-like excavation at the co meal margin Subconjunctival injection First Line
Most often form an ellipse; 2 x 1.5 mm parallel to Glaucoma surgery with creation of a filtering bleb Artificial tears, 1 drop q.i.d (3)[C]
the limbus Ointment (antibiotic or tear) q.h.s (3)[C[
Subconjunctival hemorrhage
Associated with adjacent elevation of paralimbal
Limbal malignancy Second Line
tissue
Paralytic lagophthalmus Topical antibiotic, 1drop q.i.d (2)[CI
EPIDEMIOLOGY
lnddence
9% after trabeculectomy (1)[C] ~ DIAGNOSIS General Measures
Patching of tile involved eye for a day (3)[C]
Up to 19% after muscle surgery (2)[CI HISTORY Treatment of the cause for the tissue elevation
RISK FACTORS Recent surgery
Any process causing elevation of tile perilimbal tissue Any change in the appearance of the eye
Localized dehydration of the cornea secondary to a Apparent corneal thinning evident on slit lamp
localized break in the precomeal oily tear film layer exam (3)[C]
EnOLOGY Steep wall on the corneal side, sloping wall on the
Elevation of paralimbal tissue leads to a change in tile limbal side
tear film probably by affecting lid function May or may not stain with fluorescein
Cornea can appear markedly thinned (may resemble
a descemetocele without a bulge)
Peripheral ulcerative keratitis
Corneal ulcer
Terrien's marginal degeneration
240
DELLEN
REFERENCES . CODES
ONGOING CARE
1. Fresina M. Campos EC. Corneal 'dellen' as a
FOU.OW-UP RECOMMENDA110NS complication of strabismus surgery. Eye 2009; lCDI
Should be seen in a week 23(1):161-163. 371.41 Senile corneal dlanges
PROGNOSIS 2. Soong HK, Quigley HA. Dellen assQ(iated with
filtering blebs. Anfl Ophlha/mo/1983;1 01:
If treated, resolves without sequelae
385-387. CLINICAL PEARLS
May leave scar 1f present for a prolonged period of
time 3. Baum JL., Mishima S, Borudloff SA On the nature Del len may occur when elevated limbal tissue is
of dellen. Ardl Ophrhalmo/ 1968;79:657-ii62. present
COMPLICATIONS 4. lnsler MS, Tauber S, Packer A. Descemetocele Del len do not represent true loss of tissue
Rare~, severe thinning may occur (4)(C]
I
formation in a patient with a postoperative com eal Del len ~ally respond rapidly to patdling and
May need surglcallnteMntlon (4)[C] dellen. Cornea 1989;8:129-130. lubrication
ADDITIONAL READING
Fud1s E. Ueber Dellen in der Homhaut Albrecht v
Graefes Ardr Ophtha/1911;78:82-92.
241
DERMATOCHAlASIS
Edward H. Bedrossian Jr
Consistent with normal aging changes of the skin
Lab
Loss of elastic and reticular fibers of the dermis, Initial lab tests
DESCRIPTION thinning of the epidermis with resultant skin In most cases, none is needed
Dermatochalasis refers to excess eyelid skin redundancy Tensilon test, if associated with ptosis
associated with the aging process.
ETIOLOGY Schirmer test, for tear function
Blepharochalasis is a rare eyelid disorder that often
Age Visual field, for functional defect(surgery)
presents in childhood, characterized by recurrent
episodes of idiopathic painless edema of the upper Family tendency Pre-op external photography
and occasionally lower eyelids. Chronic manipulation of eyelids Serum TSH if thyroid disease is suspected
Steatoblepharon describes the herniation of orbital C1-esterase inhibitor, if hereditary angioedema is
fat. suspected
Blepharoptosis
Herniated orbital fat Follow-up & special considerations
EPIDEMIOLOGY If positive tensilon test, need to rule out Myasthenia
lnddence Eyelid laxity
Gravis
Data unavailable Dry eye syndrome
If low tear film, conservative skin excision is advised
Frequently occurs by the age of 40 years and Chronic blepharitis
to avoid lid lagophthalmos.
progresses with age. Chronic dermatitis
If superior visual field loss, surgery is functional and
May develop by age 20 years in those with family Thyroid eye disease may be covered by insurance.
history. Chronic renal insufficiency External pre-op photography is essential for
Prevalence documentation.
Data unavailable
~ DIAGNOSIS Imaging
Initial approadl
RISK FACTORS
Advancing age HISTORY In most cases, none needed.
Smoking Excess skin of the upper lids and/or lower lids CT scan or MRI of orbit and midbrain if associated
Sun exposure Brow ache third nerve palsy or proptosis
Facial trauma Ocular fatigue when reading Follow-up & special considerations
Positive family history of dermatochalasis Difficulty applying eye make-up Treat underlying condition if present
Genetics PHYSICAL EXAM Pathological Findings
Unknown Brow ptosis Atrophy of eyelid skin, actinic elastosis, and
Horizontal forehead creases basophilic degeneration of dermal collagen
GENERAL PREVENTION Excess upper eyelid slc.in Attenuation of orbital septum
Avoid smoking
Excess lower eyelid skin
Avoid eyelid rubbing DIFFERENTIAL DIAGNOSIS
Descent of retro- orbicularis oculi fat (ROOF) Blepharoptosis
UV protection-hat, sunglasses, and sunscreen
Descent of suborbicularis oculi fat (SOOF) Blepharochalasis
advised
Herniated orbital fat Floppy eyelid syndrome
Prominent bony orbital rim Prolapsed lacrimal gland
Low or absent eyelid crease Entropion
Prominent nasojugal fold
Prominent nasolabial fold
242
DERMATDCHAUSIS
ADDITIONAL READING
Ancona D, Katz BE. Aprospective study af the
MEDICATION FOLLOW-UP RECOMMENDATIONS improvement in periorbital wrinkles and eyebrow
RrstLine Slit-lamp evaluation for corneal health elevation with a novel fractional C02 laser-the
Skin care prod ur:ts (Re1in-A, Alpha-Hydroxy Acids) Patient MonlfDrlng fractional eye lift. J Drugs Dermatal 2010;9(1):
1 day, 1 week, 1 month post-op, and as needed. 16-21.
If blepharitis, consider lid hygiene, topical
antibiotics, and topical steroids. Grant DGilliland, Md Dermatochalasis Emedicine
DIET ophthalmology from WebbMD emedlclne.medscape.
If dry eye. consider appropriate IDpicallubricant Law salt diet
and/or punctuaI occlusion. comlarticle11212294-printup Feb 25 2010.
Fruits. berries, Kom BS. Ki kkawa DO, Cohen SR. Transcutaneous
SecondUne
Fractional C02 laser treatment
Leafy green vegetables
Fish (salmon, sardines)
lower eyelid blepha roplasty with orbitomalar D
suspension: Retrospective review of 212 conseculive
Infra-brow botulinum toxin injections
PATIENT EDUCATION cases. Plast Reconstr Surg 201 0;125(1):31 s-m.
ADDITIONAL TREATMENT See risk factors Mack WP. Complications In periocular rejuvenation.
Issues for Refeml Fadal Plast SrJrg Gin North Am 2010;18(3):
PROGNOSIS 435-456.
Unde~ylng eyelid ptosis
Excellent in most cases
Dry eye s~drome
Corneal patl1o logy COMPUCATlONS
Undercorrection . CODES
Brow p!Dsis requiring brow lift
Laxity of lower lid requiring lid tightening procedure Overcorrection (lagophthalmos)
Exposure kera!Dpathy ICD9
Prolapsed lacrimal gland 374.34 Blepharochalasis
Hollow superior sukus (excess fat removal)
COMPLEMENTARY a ALTERNATIVE Asymmetry af lid aease, fold or arch
374.87 Dermatochalasis
THERAPIES MedIaI canthal web
Vrtamin supplements
Brow p1osis CLINICAL PEARLS
Fish oiI and alpha omega-3 supplements
Blepharop1osis
SURGERY/OTHER PROCEDURES Complete loss of 'lision Determine and address the patiem's main concem.
The upper and lower lid blepharoplasty has Treatment is surgical if symptoms warrant treatment
undergone numerous refinements in recent years. The patient needs ID understand the true risks and
These refinements include techniques to elevate and have realistic expectations before surgery is
re-inflate descended and deflated tissues, as well as undertaken
ethnic considerations. The tedmique is essentially Thorough preoperative evaluation and metlrulous
the same whether surgery Is for functlona I or surgical technique are necessary to obtain
cosmetic reasons. satisfactory results
Primary treatment is surgical
lniff11l Stabiliz11tion
Most are outpatient
243
DEVIC'S DISEASEINEUROMYEUTIS OPTICA
Sarkis M. Nazarian
Follow-up imaging is dependent on the development
of new symptoms.
DESCRIPTION HISTORY
Following a viral-type prodrome, sudden, painful. Diagnostic Procedures/Other
Neuromyelitis Optica (NMO) or Devic's disease is an Lumbar puncture is useful in differentiating NMO
complete loss of vision in one eye occurs. often
autoimmune relapsing demyelinating disease of the from MS; 50 or more WBC/mml or 5 or more
followed by similar symptoms in the other eye.
CNS that has been thought to be a variant of multiple neutrophilslmm3 is considered diagnostic. Oligoclonal
Paraplegia due to multilevel spinal cord involvement is
sclerosis (MS). It manifests with severe optic neuritis, bands are generally absent.
a less common presentation. Patients often have
often bilateral, and transverse myelitis, usually sparing
concurrent fever, headache. severe muscle spasms, Pathological Findings
the brain and the brainstem. Recovery of vision can
and anorexia. The hallmark of NMO distinction from MS is the severe
occur in a few weeks, though myelitis takes months
to recover. NMO was found to be a distinct entity PHYSICAL EXAM inflammatory demyelination seen in spinal cord
from MS when an autoantibody, NMO-IgG, to the Visual loss presents as central and peripheral visual lesions, with neutrophil, eosinophil and macrophage
predominance, severe edema, and patchy necrosis
aquaporin-4 channel protein (AQP4). a water channel loss and achromatopsia.
involving both the white and gray matter. Perivascular
protein important in the regulation of cell fluid The usual pattern of spinal cord involvement is
balance in the CNS, was discovered in 2004 (1)]A]. complement activation and immunoglobulin
transverse myelitis, or complete spinal dysfunction
deposition suggest an antibody-mediated response. It
EPIDEMIOLOGY with paraparesis or quadriparesis (depending on
is postulated that NMO antibody to aquaporin-4
location of lesion), and bowel and bladder
lnddence channels is a component of this antibody-mediated
dysfunction. inflammation.
The incidence is unknown but rare.
Hemisection (Brown-Sequard) or central cord
Prevalence syndromes (loss of function in upper extremities. DIFFERENTIAL DIAGNOSIS
Prevalence in the Caribbean is about 1:1 00,000. It is with preservation of lower extremities) have been Demyelinating optic neuritis
very uncommon in White patients in Europe and North reported. Recurrent/relapsing optic neuritis
America, and makes up < 1% of demyelinating Severe, painful flexor spasms of the trunk and Relapsing inflammatory optic neuropathy
diseases in that group. It is most common in Japan, extremities are common. Multiple sclerosis and variant forms
where it may represent one-third of all demyelinating Acute transverse myelitis
diseases. DIAGNOSTIC TESTS & INTERPRETATION
Lab Tropical spastic paraparesis
RISK FACTORS Initial lab tests Neurosarcoidosis
Women have 4-9 times the risk. than men, and median lgG test for aquaporin-4 antibody is positive in 80% of Systemic lupus erythematosus
onset is in the thirties, a decade later than MS. cases. Neuro-Beh~et's disease
Genetics Follow-up It special considerations Neurosyphilis
No genetic influence has been discovered. Optical coherence tomography (OCD findings in NMO HIV-related myelopathy
GENERAL PREVENTION parallel central and peripheral vision defects.
No primary preventive measures are known, but Imaging
immunomodulatory therapies discussed below are Initial approach
used for secondary prevention. MRI of the brain, optic nerves, and appropriate
PATHOPHYSIOLOGY portions of the spinal cord are mandatory for the
Autoantibodies targeting the aquaporin4 channel correct diagnosis.
activate complement and cause inflammation, The earlier diagnostic requirement that the initial
resulting in demyelination and extensive tissue brain MRI be normal has been dropped in the
necrosis. revised criteria (2)]A]. Brain MRI is atypical and
ETIOLOGY does not meet diagnostic criteria for MS.
The etiology of NMO is idiopathic, but post-infectious Brain lesions are ovoid and concentrated in the
cases linked to syphilis, HIV. Chlamydia, varicella. cerebellum, brainstem, and in periventricular
CMV, and EBV have been reported. regions.
COMMONLY ASSOCIATED CONDITIONS MRIIesions in the spinal cord typically cause
No other conditions are known to be associated with expansion of the cord, and extend over more than 3
NMO. spinal segments.
244
DEYIC'S DISEASEINEUROMYEUTIS OPTICA
IN-PATIENT CONSIDERATIONS REFERENCES

. TREATMENT Initial Stabilization
1. Lennon VA. Wingerchuk DM. Kryzer TJ, et al. A
Patients with severe myelopathy need to be admlned
MEDICATION to hospital, and ilthey have a high cervicaI lesion that setU mautoantibody marbr of neuromyelitis optlca:
RrstLine interferes with respiration, may need to be intubated Distinction from multiple sclerosis. lancet
High-<lo.se intravenous corticosteroids (e.g., and artifiCially ventilated. 2004;354(9451 ):2106-2112.
methylprednisolone 1 g/d for 5 days). Patients who 2. Wingerchuk OM, Lennon VA. Pinodt ~. et al.
Admission Criteria Revised diagnostic criteria for neuromyelitis optica.
do not respond Qn be treated with plasmapheresis Severe visual loss, paraparesis or quadr1paresls
(7 ei{Changes ol55 mllkg I!Yt!ry other day). Neurology 2006;66:1485-14~.
Early treatment has been found to be more effective. tv Fluids
A5 needed for hydration.
Second Line ADDI110NAL READING
I
Prevention of relapsing disease (more than 1 Nui'Sing
attack), especially in patients with positive NMO Ventilator care, rna nagement of paralysis, and bladder Hazln R. Khan F, Bhatti MT. Neuromyelitis optlca:
.serology, requires immunosuppressive therapy. and bowel care are the mainstay of nursing care. Currem concepts and prospects for flll\lre
The most standard approach is a combination of Discharp Criteria management. Curr Opin O{ilthalma/ 2009;20:
oral prednisone (1 mglkgld) and azathioprine Patients can be disd!arged as they fin ish their 434-439.
(2-3 mg/kg/d), with the prednisone being tapered treatments; often, transfer to a rehabil italion facility Nandhagopal R, AIAsmi A, Gu]ar AR.
as azathioprine exerts Its effect (reduction In WBC wi II be necessary. Neuromyelitis optica; An overview. Postgrad Med J
and MCV. mean corpuscular volume). 201 0;86: 153-159.
Rituximab, a murine monoclonal (1}20 positive Wingerchuk DM. Diagnosis and treatment of
B-cell depleting agent. has been used, based on the $ ONGOING CARE neuromyeIitis optica. Neurologist 2007; t 3(1):2-1 t .
theory that NMO is a humorally-mediated disease, FOLLOW-UP RECOMMENDATIONS
and small studies have shown success. Patients with spinal c.ord involvement will need Q S11 Also (laplc, Algaltthm, Eleelronlc
Other agents, such as mycophenolate mofetil, rehabilitation by physical and occupational therapy. ~ Media Elll'llntl
mitoxantrone, methotrexilte, and
Patient MtNJltorlng Multlple Sclerosis, Optic Neuritis
cyclophosphamide, have been used, although no
Follow-up visits with an ophthalmologist or
studies have been conducted.
neurologist usually will occur on a quarter~ basis.
DIET . CODES
General Meuutes No specilic diet needed
No specific measures other than medication treatment
are avaiIable. PATIENT EDUCATION ICD9
Patients need to be educated on all the possible 341.0 Neuromyelitis optica
ISsues for Refei'I'8I
visual, motor; and sensory manifestations of a relapse
Sl nee NMO Is potentially a relapsing disease, even and advised to seek Immediate medical anemlon If
patients with full recovery need to be followed on a any occur. CLINICAL PEARLS
regular basis.
PROGNOSIS NMO morbidity, unlike MS,Is entirely due to optic
Additional Thetaples nerve and spinaI cord Involvement. and lesions In
Rehabilitation, such as physical or occupationaI The mortality rate can be as high as 2Q-25%, and
median sul"/tval has been found to be 8 years from other CNS areas do not QUse much problems.
therapy, is indicated for patients with spinal cord
date of diagnosis. The mortality rates are highest in NMO is much more severe disease than MS, with
involvement. high mortality, especially in patients with high
patients ol African origin.
COMPLEMENTARY & ALTERNATIVE CI!!Vicallesions and those of African descent.
COMPUCATlONS
TliERAPIES
Permanent neurologic defects are common, with only
No specific therapies have been used.
partial remission of symptoms. after each attack.
No surgical procedures available.
245
DIABOIC PAPILLOPATHY
David B. Auerbach
Imaging . ..
MRl brain and orbits with and w1thout gadohmum to
rule out demyelination and/or a compressive lesion.
DESCRIPTION HISTORY
Painless decrease in vision Diagnostic Procedures/Other
An uncommon unilateral or bilateral swelling of the
Visual field defect (most common is an enlarged Intravenous fluorescein angiography (IVFA). Follow up
optic disc seen in diabetics of all ages. The optic disc
blind spot) IVFA can show capillary nonperfusion and rule out
edema is transient and usually resolves over the course
neovascularization.
of a few months. Impairment of optic nerve function is PHYSICAL EXAM
usually mild. It is important to differentiate between Pathological Findings
Visual acuity can be normal
diabetic papillopathy and proliferative diabetic IVFA shows focal or diffuse optic disc
Minimal or no afferent pupillary defect hyperfluorescence
retinopathy with neovascularization on the optic disc.
Dyschromatopsia is mild or absent Leakage from telangiectatic vessels
EPIDEMIOLOGY Enlarged blind spot or mild arcuate defect on visual
Incidence field Need to differentiate this disc swelling fromdisc
Although more common in juvenile dia~tics, . neovascularization where fluorescein is leaked into
Hyperemic swelling of the optic disc with dilated, the vitreous in the latter (2)[A].
diabetic papillopathy has been reported 1n patients
radially oriented superficial telangiectatic vessels
as old as 79 years. DIFFERENTIAL DIAGNOSIS
(1)]A]
Sexes are equally affected. NAION
Background diabetic retinopathy
RISK FACTORS Papilledema
Macular edema
Poor glucose control Hypertensive retinopathy
Small optic disc ratio in fellow eye if only one eye
Duration of diabetes Proliferative diabetic retinopathy
affected
Optic Neuritis (Papillitis)
GENERAL PREVENTION DIAGNOSTIC TESTS & INTERPRETATION
All diabetics should be counseled on the importance lnflammatmy optic neuropathies
of strict blood glucose control. Lab
May have an elevated Hb A1c
PATHOPHYSIOLOGY Blood pressure
The pathophysiology of disc swelling is unclear. CBC
Some consider this as being avasculopathy of the ANA
superficial layers of the disc capillaries. ACE
COMMONLY ASSOCIATED CONDITIONS Lymetiter
Diabetic retinopathy RPR
Macular edema ESR
246
DIABETIC PAPILLDPATHY
PATIENT EDUCATION
. TREATMENT The importance of strict blood glucose control must be . CODES
stressed.
MEDICATION PROGNOSIS ICD9
No llll!dication for treatment Good clinical outcome, however, there may be mild 250.50 Diabetes mellitus with ophthalmic
Self-limited permanent visual field defects and mcrbidity from manifestations, type II or unspecified type, not
May req ulre laser photDCOag ulatlon for diabetic assodated mawlar edema. stated as uncontrolled
retinopath~ and/or macular edema 377.00 Papilledema, unspecified
ADDITIONAL TREATMENT 377.31 Optic papillitis
REFERENCES
General MHsures
May need retinal photocoagulation after the disc 1. Regillo CD, Brown GC, Savino PJ, et al. Diabetic
I
edema has resolved to treat diabetic retinopathy papillopathy. ArdJ Ophthalmol 199 5;113: CLINICAL PEARLS
and/or macular edema 889-895. t.1 ust differentiate disc edema from
Issues for Refenal 2. Stransky TJ. Diabetic papi llopathy and proliferative neDYascularlzatlon
Follow up with neuro-ophthalmologist or retinal retinopathy. Graefe's ArdJ Clin Exp Ophthalmo/ With disc edema, dilated capillaries are within the
specialist 2weeks after initial diagnosis is made t 986;224:46-50. nerve and retina. Vessels are radially oriented and
leak fluorescein into the disc and retina.
ADDITIONAL READING With neovascularization, vessels are usually
$ ONGOING CARE peripheral, have a random course, and leak.
FOLLOW-UP RECOM MENDA110NS Appen RE. Chandra SR, Klein MD, et al. Dlabedc fluorescein Into the 'litreous obscuring t11e vessels.
pap/llopathy. Am 1Ophtha/mo/ 1980;90:203-209. Must differentiate from papilledema when bilateral.
l'affenf Monitoring
Every 2-3 weeks to Iook for resolution of edema Ba)faktar z, Alacali N, B~aktar S. Diabetic
and assess optic nerve fu netian (color vision, visual papillopathy in type II diabetic patients. Retina
field, and pupillary exam) 2002;22:752-758.
Need to confirm there Is no proliferative dlabedc
retlnopatl1~
Need to reconsider the diagnosis if severe optic
nerve dysfunttion noted at presentation (this
remains a diagnosis of exclusion).
DIET
Diabetic diet
247
DISSOCIATED STRABISMUS
Harold Koller

Maintenance of alignment and correction of refractive
error and amblyopia helps to promote bifoveal fixation
~ DIAGNOSIS
DESCRIPTION without dissociated deviation. HISTORY
Dissociated strabismus is an ocular deviation in Parents notice the eyes drifting out or up or both;
which refixation of the deviated eye does not elicit PATHOPHYSIOLOGY often to different degrees and at different times.
an opposing deviation of the other eye (i.e., it is not Generally unknown. DVD violates Hering's law of yolk May be more frequent when child is ill or tired.
a true tropia) muscles. Covering one eye induces the dissociated It should be looked for in any case of congenital/
deviation with no associated opposite deviation of the infantile esotropia or latent or manifest-latent
Due to 3 recognizable components- vertical,
fellow eye when the dissociated eye refixates. nystagmus.
horizontal, and torsional -a more appropriate
Helveston believed that DSC resulted from
designation of the condition is dissodated PHYSICAL EXAM
maldeveloped supranuclear centers. Guyton suggested
strabismus complex (DSC). DSC is characterized by that DVD may be secondary to a cycloversion/vertical Deviations can be small and well controlled on one
slow elevation, abduction, and extorsion of a visit and large and manifest spontaneously on the
vergence produced to dampen a cydovertical
non-fixing eye. next visit. The eye may be "up" one time and out
nystagmus that occurs in patients with an early onset
DSC can be subdivided into dissociated vertical defect of binocular function. the next time.
deviation (DVD), dissociated horizontal deviation The non-fixing eye is elevated, abducted, and
(DH D), and dissociated torsional deviation (DTD), ETIOLOGY extorted. Diplopia is not present. Bi-fixation is
and may have features of one or more Unknown absent.
simultaneously. COMMONLY ASSOCIATED CONDITIONS The degree of each component of DSC can be
DCS is usually comitant in all fields of gaze. Congenital/infantile esotropia documented using a +4 to + 1 designation
EPIDEMIOLOGY Monofixation syndrome separately, with +4 being the most severe.
lnddence Latent or manifest-latent nystagmus Alternatively, use the prism cover-uncover test.
DVD found in 45-92% of patients with Amblyopia Use the cover-uncover test or the cross-cover test.
congenital/infantile esotropia. In a true hypertropia, the opposite eye is lower
when the hypertropic eye is uncovered. The absence
Prevalence of upward ref~xation movements in either eye on
Unknown alternate cover testing can distinguish DVD from a
RISK FACTORS true hypertropia. In a true DVD, the opposite eye is
Congenital/infantile esotropia never hypotropic unless the DVD is present with a
Monofixation syndrome true hypertropia simultaneously.
Latent or manifest-latent nystagmus
Amblyopia
Genetia
Unknown
248
DISSOCIATED STRABISMUS
Any of the components of DSC can be present at SURGERY/OTHER PROCEDURES ADDITIONAL READING
any exam lnatlon (DH D, DID) as well as nystagmus. There is no total surgical cure for any component of
In DVD, binoOJiar inYillvement but asymmelly is the DSC. Options lnducle: W~ght ~. Complex strabismus. Pediatric
rule. with expected variability. For DVD, Iarge recessions of the superior rectus. If Ophthalmology and Strabismus, 2nd ed. Wright KW,
DSC often coexists with true inferior oblique asymmetry exists. do unequal recessions Spiegel PH, (Eds). New York: Spinger-Verlag,
overaction with or without. a v -pattern. DVD can For DVD, anterior transposition of the inferior 2003:450-480.
simulate i,;rerior oblique overaction by becoming obi ique. espedally if inferior oblique overaction Olitsq SE, Nelson LB. Strabismus disorders. Harlefs
manifest in adduction as the nose interrupts exists Pediiltlic Of/!thalmology, 5th ed. Nelson LB. Olitsq
fixation. True vertical or horizontal deviations can For DVD, resection of the Inferlor oblique Oess often SE, (Eds). P~iladelp~ia: Uppincott, Williams &
also be confused with any other component of DSC. performed) Wilkins. 2005:255--284.
Prolonged patch or rover may encourage the For DVD, Faden suture of the superior rectus Wilson ME. Dissociated deviations. Strabismus
Surgery, Basic andAdvanced Stratefies Of/!thalmic
I
dlssodated deviation to appear For DHD, recession at the lateral rectus
- Complete ocular examination including Monographs 17, Plager DA (Ed)_ New York: Oxford
- Correction at associated strabismus (e.g., infantile Univer.iity Press, 2004.
cycloplegic refraction esotropia)
-Worth 4-dottest, Bagolini striate glasses, and
Tltmus or Randot stereo tests to rule out
monof001tion $ ONGOING CARE i ; coDES
DIFFERENTlAL DIAGNOSIS FOLLOW-UP RECOMMENDATIONS
Inferior oblique overaction ICD9
Monitor for amblyopia, recurrent deviation, and 378.9 Unspecified disorder at eye movements
- True hypertropia coexisting tropias.
- True exotropia
- True cydotorslon PATIENT EDUCATION
Keep parents and family infonmed about the CLINICAL PEARLS
limitalians of treatment including the diagnasis, The 3 components of the DSC may all be present
. TREATMENT treatment plan, and prognosis. simultaneously or in different proportions at
MEDICATION PROGNOSIS dlfferent times during subsequent examinations.
Atropine is ineffective for DSC; use only for moderate Variable with recurrences possible. No full rure is ReOJrrence is common
to mild associated amblyopia. available. Correction of DSC in one eye may uncover DSC in
COMPLICATIONS the other eye.
ADDITIONAL TREATMENT Deviations may be asymmetric between the two
Amblyopia
General Measures eyes.
Correct refractive error and amblyopia ID encourage Complications of strabismus surgery
fixation with affected eye.
249
DOMINANT OPnC ATROPHY
Louis C. Blumenfeld
~ BASICS ETIOLOGY
Inherited mutation usually involving OPA1 gene of
chromosome 3.
Lab
Initial lab tests
DESCRIPTION Genetic testing of OPA 1gene sequence is available.
Most common hereditary form of optic atrophy
Majority of patients are otherwise completely This detects mutations in 70-90% of familial cases
causing vision loss within the first decade of life. and 50% of simplex cases.
Vision loss tends to be insidious with slow healthy.
Reoent studies suggest that up to 20% of OPA1 Follow-up lr special considerations
progression described.
mutational carriers may have other extraocular Auditory testing -auditory brainstem responses.
- May be referred to as Kjer type optic atrophy
neurological complications (1) auditory evoked potentials
-Vision is typically reduced to between
20/7D-20/1 00, but range can be from 20/20 to - Bilateral sensorineural deafness beginning in late Glucose tolerance test may be appropriate.
counting fingers childhood and early adulthood Blue cone ERG may help distinguish from congenital
-Ataxia tritanopia.
EPIDEMIOLOGY -Myopathy
Imaging
Prevalence - Peripheral neuropathy
MRI with attention to the optic nerves and chiasm
1:50,000 worldwide - Progressive external ophthalmoplegia
may be necessary to rule out compressive lesion if
Most prevalent in Denmark 1:10,000 - Spastic multiple sclerosis-li lei! illness
diagnosis is questionable.
- Mental retardation
RISK FACTORS Diagnostic Procedures/Other
~ DIAGNOSIS
Positive family history Visual field testing is appropriate if the child is of
Genetics appropriate maturity to reliably do this test. Most
Autosomal dominance inheritance pattern with children are not able to respond reliably to this test
HISTORY
incomplete penetrance and variable clinical below the age of 10 years. Static perimetry may be
Vision loss is often insidious and may be found
expression more sensitive than kinetic perimetry.
incidentally on routine examination in some children
OPA1 gene, chromosome 3q28 most commonly Electroretinography- markedly reduced negative
Mild photophobia may be present
involved. Other loci include OPA3 (1 Oq 13 .2), OPA4 component with normal positive component
May have positive family history
(1 Bq1 2.2), and OPA5 (22q1 2.1-ql 3.1) Visual evoked potentials -decreased amplitude
PHYSICAL EXAM Pathological Findings
PATHOPHYSIOLOGY Decreased visual acuity (typically 20/7D-20/1 00,
Primary retinal ganglion cell degeneration Ganglion cell loss, primarily in the macula, and
range 20/20- counting fingers) papillomacular bundle.
The OPA1 gene on chromosome 3 produces a - Decreased color vision (blue-yellow defect
protein that is essential for maintaining the shape (tritanopia) most common, but other color defects
and structure of mitochondria. It is also involved in may be present)
cellular apoptosis and maintenance of mitochondrial -Variable degree of optic atrophy (may range from
DNA. OPA 1 is also involved in oxidative mild temporal pallor to complete atrophy (2)
phosphorylation. - Characteristic focal temporal excavation of optic
Mutations in the OPA1 gene lead to overall discs is present in some patients.
mitochondrial dysfunction and increased cell death
(apoptosis). This leads to primary retinal ganglion
cell degeneration and subsequent optic atrophy.
250
DOMINANT OPTlC ATROPHY
DIFFERENTlAL DIAGNOSIS COMPLEMENTARY & ALTERNATIVE PROGNOSIS

Leber hereditary optic neuropathy THERAPIES Children seem to function better than expected for
Toxic deafness optic neuropathies There are no known effecdve complememary or their glven visual defldts
DeafnesHlystonia-optic neuronopathy syndrome alternative therapies. Stem cell treatment (outside of ViSion tends to remain stable or decrease
Wolfram syndrome (AKA DIDMOAD)- Diabetes US) has been proposed and tried without prO'Iefl imperceptibly beyond mid-teens
insipidus. Diabetes mellitus, optic atrophy efficacy.
Congenital tritanopia SURGERY/OTHER PROCEDURES REFERENCES
Optic atrophy secondary to red nal dystrophy No known surgical procedures.
Idiopathic imracranial hypertension IN-PATIENT CONSIDERATIONS 1. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al.
lntracranialtumor Generally, does not require hospitaIization. MuIIi-system neurologicaI disease is common in
patients with OPA1 mutations. Brain
I
201 0;133(3):771-786.
. TREATMENT $ ONGOING CARE 2. Hoyt CS. Domlnam optic atrophy: A spectre of
disability. OtiJfhalmology 1980;87:245.
MEDICATION FOLLOW-UP RECOMMENDATIONS
No medical therapy is avai!able Yearly ophthalmic evaluations
ADDITIONAL TREATMENT l'fltient Monif.oring ADDITlONAL READING
General Measures Visual field testing Newman NJ. Hereditary optic neuropathies: From
SymptOmatic treatment with low vision aids o Monitor for possible sensorineural hearing loss the mitochondria to the cptic nerve. Am 1
Issues for Referral o Neurologic evaluation based on symptoms Ophthalmol 2005;140:517-523.
Audiology referral may be appropriate to detect PATIENT EDUCATION
associated hearing loss Genedc counseling
Low vision evaluation . CODES
ICD9
377.16 Hereditary optic atrophy
251
DOUBLE ELEVATOR PALSY
Colleen J. Christian
Brown's syndrome
Orbital blowout fracture
DESCRIPTION HISTORY
Thyroid ophthalmopathy
An inability to elevate the eye in all fields of gaze Family notices limited elevation and ptosis of the
inv~~ed eye. along with an abnormal chin up head
Orbital fibrosis syndrome
often resulting in a large hypotropia, with
associated ptosis pOSitiOn. Congenital cranial dysinnervation disorders
Anomalous/absent muscles (as in craniosynostosis
Also called monocular elevation deficiency PHYSICAL EXAM syndrome)
EPIDEMIOLOGY Reduced elevation of the eye in all positions of gaze Superior orbital tumor or hemorrhage
Incidence yYhen fixing with the non-paretidrestricted eye, the
Parinaud syndrome
Very rare Involved eye is hypotropic and the lid becomes
- Hydrocephalus
ptotic. -Abnormality in the midbrain region of the
Prevalence Fixation with the involved eye results in a
Unknown quadrigeminal plate
hypertropia of the non-paretic eye (which is often of
RISK FACTORS greater magnitude than the baseline hypotropia) Cranial Nerve Ill palsy (4)[A]
None Known and often, resolution of the ptosis_
Many patients present with a large chin up position,
Genetics . TREATMENT
used to maintain binocular vision.
No known genetic association (although monocular
elevation deficit may also be seen in Congenital Full ocular examination including dilated retinal MEDICATION
cranial dysinnervation disorders and some examination and refraction. None
craniosynostosis syndromes) Evaluate visual acuity for amblyopia.
PATHOPHYSIOLOGY DIAGNOSTIC TESTS & INTERPRETATION General Measures
Neurologic (cranial nerve, nuclear, or supranuclear Lab Correct refractive error
deficits and mechanical restriction (or both) can None Treat amblyopia
contribute. Imaging Issues for Refe"al
ETIOLOGY Can be helpful in differential diagnosis, but is not Consider neurology consult if concern about
Classifi~d into 3 subgroups with different underlying necessary if clinical diagnosis is clear. intracranial cause
mechamsms: Diagnostic Procedures/Other Consider endocrinology consult if concern about
- Primary inferior rectus restriction Forced duction testing is necessary to establish thyroid eye disease
- Primary paresis or of the superior rectus etiology and best surgical approach. Additional Therapies
-Supranuclear deficit (1)[A] If positive, indicates inferior rectus restricted.
If negative, indicates no inferior rectus restriction. Ptosis surgery should not be done until final
COMMONLY ASSOCIATED CONDITIONS alignment is established (S)[A]
Marcus Gunn jaw-winking ptosis is seen in 25% of Assessment of Bell's phenomenon:
patients -When present, cause is likely supranuclear
Hypotropia -When absent, consider inferior rectus restriction
Ptosis (3)]A]
Chin lift (2)]A]
252
DOUBLE ElfYATOR PALSY
COMPLEMENTARY & ALTERNATIVE PATIENT EDUCATION 4. Mets HS. Double elevator palsy. J Pediatr
THERAPIES lmportance of regular follow-up to monitor for Ophthalmo/ Strabismus 1991 ;18:31-35.
None amblyopia 5. Foster RS. Vertical muscle transposition augmented
SURGERY/OTliER PROCEDURES PROGNOSIS with lateral fixation. JAAPOS 1997;1(1):2G-30.
Surgery is indicated for relief of strabismus andfor Reoperalion frequently needed 6. Knapp P. The surgical treatment of double-elevator
limiting head position. Good visual outcome with refractive correction and paralysis. Trans Am Ophthalmo/ Soc 1969;67:
Some patients are orthophoric in primary and do not treatment of amblyopia 304-323.
require surgery. 7. Burke JP, Ruben J8, Scott WE. Vertical transposition
COMPLICATIONS of the horizontal recti (Knapp procedure) far the
Forced duct!on Recurrent strabismus
- If positive, include inferior rectus recession in treatment of double elevator palsy: Effectiveness
Persistent/recurrent true ptosis and long-term stability. Br J Ophthalmo/1992;
surgicaI plan
I
- If negative: Amblyopia 76(12):734-737.
o And large hypotropia present, a ttansposition
procedure should be done, moving aII or a
portion of the medial and lateral rectus muscles
to the superior rectus insertion
REFERENCES
1. Cadera W, Bloom JN, Karlik S. An MRI study of
if coDES
double elevator palsy. Ophthalma/ogy 1997; 32: ICD9
o With a smaller hypotropia, resection of the
250--253. 374.30 Ptosis of eyelid, unspecified
superior rectus and recession of the inferior
rectus can be done (5)[A.], (6)[A], (7)[A] 2. Mims JK3rd. Double elevator paIs( eye 378.31 Hypertropia
supraducts during stage II general anesthesia
supporting hypothesis of (supra) nudear e1lology.
ONGOING CARE Binocul VJS Strilbismus Q 2005;20:19!)....204. CLINICAL PEARLS
FOLLOW-UP RECOMMENDATIONS 3. Zafar SN, Khan A, Azad N, et al. Ptosis associated Diagnosis made by presence of complete Inability tD
More frequently In young children to rule out with monocular elevation defidency. JPak Med elevate the eye in all fields of gaze.
amblyopia. Asroc 2009;59:522-524.
Patients may develop large chin up position to allow
Patient Monitoring blnocuIar vision.
For vlsuaI acuity to rule out amblyopia Fon::ed duction testing results help deterrnine
For recurrent stmbism us and diplopia, or head e1iolagy and best surgical pian.
position
253
DOWN SYNDROME
Donelson Manley

Males are usually infertile exhibiting defects in
spennatogenesis and females have significantly

A single palmar fold
Poor muscle tone (hypotonia)
Mental retardation
DESCRIPTION lower rates of conception. Speech delay
Down syndrome is a chromosomal disorder caused Hematologic malignancies
by the presence of all or part of an extra 21st Short stature
Thyroid disorders Strabismus
chromosome and is named after John Langdon Gastrointestinal disorders
Down who described it in 1866. Cataracts
Epilepsy Increased obesity with age
It is also called Trisomy 21.
Alzheimer's disease tends to develop at an earlier
EPIDEMIOLOGY age, often before age 50 years, and shortens the life DIAGNOSTIC TESTS & INTERPRETATION
lnddence expectancy. Diagnostic Procedures/Other
Down syndrome occurs worldwide in all ethnic Prenatal diagnosis possible if gene mutation known
groups and economic classes.
In 2006, the Centers for Disease Control an~ ~ DIAGNOSIS Albinism is a clinical diagnosis that can be
confirmed in some cases with DNA testing
Prevention estimated the rate as 1 per 733 live HISTORY Optical coherence testing (Ocn demonstrates
births in the US (5, 529 new cases per year). Maternal and paternal age macular hypoplasia
Multichannel visual evoked potentials demonstrate
RISK FACTORS PHYSICAL EXAM excessive decussation of retinal ganglion cell axons
Advanced maternal age. At maternal age Small chin (microgenia) at the chiasm in most cases
20--24 years, the probability is 1 in 1, 562, at age Round face
35--39 years, the probability is 1 in 214, and above Molecular genetic testing may determine the specific
Protruding or oversized tongue (macroglossia) mutations and thus helps identify the subtype of
45 years the probability is 1 in 19.
associated with a small oral cavity oculocutaneous albinism
8% of children with Down syndrome are born to
Short neck Tests for OCA 1, OCA2, and OA 1are available
women under the age of 35 reflecting the fertility in
Brushfield spots (white or grayish/brown) in the clinically
this group.
periphery of the iris Tests for other genes only for research purposes
Paternal age over 42 years also increases the risk.
Epicanthal eyelid folds causing an almond shaped
Geneffa appearance
Chromosomal abnonnality characterized by the Upward slanting palpebral fissures
presence of an extra copy of genetic material on the Shorter limbs
21st chromosome. If whole, it is Trisomy 21, which is
caused by a meiotic nondisjunction event.
GENERAL PREVENTION
Screening can be performed during pregnancy and
includes amniocentesis, chorionic villus sampling, or
percutaneous umbilical cord blood sampling.
254
DOWN SYNDROME
PROGNOSIS
. TREATMENT The life eJII)ectancy of people with Down syndrome . CODES
has lnaeased In recent years.
ADDITIONAL TREATMENT In 1980 it was 25 years. In 2002 it was 49 years. ICD9
General Measures The causes of death hiM! dlanged. Those who o 379.99 Other ilklefined disorders of eye
Medical and surgical treatment as indicated for any survive into their 40s and 50s often develop chronic 743.69 Other congenital anomalies of eyelids,
associated conditions. lll!urodegeneralive disease (Alzheimer's). lacrimal system, and orbit
758.0 Down's syndrome
ONGOING CARE ADDITIONAL READING
FOLLOW-UP RECOM MENDA110NS Center for Disease Control and Prevention (CDC). CLINICAL PEARLS
I
Childhood intervention, vocational training, a Improved national prevalence estimates for 18
su pportlve environment, and medicaI treatment can Risk factors for Down syndrome indude advanced
selected major birth defeds. United States,
improve the development of d'lildren with Down 1999-2001. MMWR Morb MOfta/ Wkly Rep maternal and paternal age.
syndrome and improve the quality of life. Cognitive 2006;S4(S 1):1301-1305. Ophthalmic features of Do\WI syndrome Jndude
ability can be improved with education. Brushfield spots, or grayish brown spots on the
Huether CA,lvanovich J, Goodwin BS, e1 al.
peripherc~l iris. and cataracts.
PA11ENT EDUCA110N Maternal age spedflc risk estimates for Down
syndrome among live births in whites and other The life expectancy has increased in recent years.
National Down Syndrome Society (N DSS):
www.ndss.org races from Ohio and metropolitan Atlanta,
197Q-1989. 1 Med Genet 1!198;35(6):482-490.
o National Down Syndrome Center. http:/lwww.
ndsccenter.org.tresourceslpackage.
255
DRY EYE SYNDROME
Melvin I. Roat
~ BASICS ETIOLOGY
Aqueous tear-deficient
- insufficient volume of tears to lceep conjunctiva
~ DIAGNOSIS
DESCRIPTION and cornea moist. relative to the volume of HISTORY
Multifactorial disease characterized by an abnormal tears lost by evaporation and via puncta ltclhing, burning, gritty, foreign body sensation,
tear film that is inadequate to support the health of Evaporative sharp stabbing pain
the ocular surface - insufficient duration of coating by tears to Ache, pressure behind the eye, eyes pulling, tired
Types lceep conjunctiva and cornea moist, relative to the eyes. eye strain
-Aqueous tear-deficient speed that tears are lost by evaporation and Photophobia
- Evaporative via the puncta Hard to open eyes upon awakening
-Exposure Exposure Blurring with prolonged visual effort (e.g., reading,
Isolated ocular disease - insufficient area of the conjunctiva and cornea watching TV. computer. driving)
- Primary aqueous tear production deficient coated by tears Inability to tear in response to irritants or emotions
- Secondary aqueous tear production deficient (e.g., Intermittent flood of tears, tearing while reading
surgery, radiation) COMMONLY ASSOCIATED CONDITIONS
Aqueous tear-deficient Decreased contact lens tolerance
- Lacrimal ducts not transporting tears (e.g., - Chronic, usually worsening over years
chemical injury, mucous membrane pemphigoid, -Gland not producing tears
o Sjogren's syndrome -Waxing and waning course
Stevens-Johnson syndrome) -Seasonal: Often worse in the winter, better in the
o Drugs, (e.g., beta bloclcers. antihistamine)
- Seborrheic blepharitis spring and fall
o HIV
- Meibomian gland dysfunction -Worse toward the end of the day and with
o Graft-versus-host disease
- Primary lagophthalmos blowing air (e.g., fans. AIC), low humidity (e.g.,
o Sarcoidosis
- Secondary abnormal lid closure (e.g., chemosis, blue sky days. airplanes, malls, offices), fumes.
o Familial dysautonomia
conjunctivochalasis, ectropion, post vapors. or smoky areas
o Xerophthalmia
blepharoplasty) - Better with high humidity days (e.g., cool rainy
- Eyelid or cheek. scar (burn, chemical, thermal, - Ducts not transporting tears
o Mucous membrane pemphigoid days, foggy days), high humidity environments
radiation, trauma. surgical) (e.g., shower, kitchen, basement)
o Stevens-Johnson syndrome
- Loss of corneal sensation (e.g., herpes simplex - Bilateral, asymmetrical
virus. varicella zoster virus) - Insufficient hormonal stimulation
o Menopause PHYSICAL EXAM
Associated ocular manifestation of a systemic
o BCP All TYPES:
disease
o Pregnancy - Conjunctival hyperemia in the exposure zone
Synonym(s). Dry Eyes, Keratoconjunctivitis Sicca, o Androgen deficient?
Keratitis Sicca - Conjunctivochalasis
- Insufficient neural stimulation - Superficial punctate !ceratitis in the exposure zone
EPIDEMIOLOGY o Strolce - Corneal epithelial defect
lnddence o Neurotrophic !ceratitis - Filamentary !ceratitis
22% over 10 years o Radiation - lusterless cornea
o Surgery
Prevalence Aqueous tear-deficient
Evaporative -Poor tear meniscus
17% of females. 12% of males -Androgen deficient
8% in subjects < 60 years, 19% >80 years - Mucous in tear film
- Drugs. for example, Accutane - Enlarged lacrimal gland
RISK FACTORS - Ectodermal dysplasia Evaporative:
Age, female - Meibomian gland dysfunction associated with - Meibomian gland inspissation
Ocular surgery (cataract. corneal transplant, LASIK) acne rosacea -Acne rosacea (i.e., rhinophyma, pustules,
Diabetes, contact lens use Exposure telangiectatic vessels of the nose, chin, and
- Neurologic cheeks)
PATHOPHYSIOLOGY o Unconscious - Seborrheic blepharitis
Desiccation of the ocular surface leads to squamous o Parkinson's disease (slow blink rate or - Seborrheic dermatitis
metaplasia with loss of goblet cells. enlargement and incomplete) - Blood vessels crossing the gray line
increased cytoplasmic/nuclear ratio of superficial o Seventh nerve palsy; Bell's palsy, acoustic - Foam in tear lalce or lid margin
epithelial cells. keratinization and secondary neuroma, surgical, traumatic, congenital - Debris in tear film
inflammation. (Goldenhar syndrome), CVA Exposure
- loss of corneal sensation - Poor blink rate
o Radiation -Incomplete blink
o Fifth cranial nerve palsy; CVA, Trauma, surgery,
- Facial weakness
tumor
-Muscular
o Botulinum toxin
-Endocrine
o Thyroid (i.e., Grave's disease)
256
DRY EYE SYNDROME
DIAGNOSTIC TESTS & INTERPRETATION All types of dry eye mMPUCATIONS

Diegnostk Ptocedures/Other - Cydospo~n A eye drops Secondary bacterial con]unctMtls
Schirmer Test I (Whatman filter paper #41, - Autologous serum eye drops o Filamentary kellltitis
0. 5 x 3 5 mm, lateraI or medial third, not center. no - Secretagogue o Secondary bacterial keratitis - lllre
topical anesthesia, i.e., a standardized tear stimulus, o Plloc.a rplne or cevlmellne tablets o Persistent corneal EPithelial defetts - vety !lire
repeated at least 3 times. 5.5 mm = 85% true - Consider ci1anging to non-<lrying systemic o Caldfic band keratopathy- very rare
positive, 15% false positive} medications
Keminization- very rare
o Tear breakup test {TBUT} (instill a small volume of Pedletrk COIISideratlons CorneaI perforation--very, very rare
highly concentrated fl uoresceln-made by wetting a Doxycycline, tetracyd lne, and de~vatlves should not be - Spontaneous
fluorescein strip with saline and shaking the strip to used in children <8 years of age. - After cataract
remove any excess moisture. aftEr sevellll blinks to
Pregnancy Considerations Psychological-social-1!conomic
I
dlst~bute fluorescein throughout the tear fllm, the
patient stares and the length of time until the first Doxycycline, tetracyd Ine. and de~vatlves should not be Multiple serious systemic complications are with
dry spot develops is determined, normal is used in pregnant or nursing mothe~ Sjogren's Syndrome (see ... )
> t 0 seconds} ADDITIONAL TREATMENT
Rose Bengal 1% (stains desiccated epithelium, General Measures ADDITIONAL READING
traumatized cells, and mucous. Vlln 8ijsterveld soore; Stay hydlllted
1+ sparsely scattered, 2+ densely scattered, 3+ Blink often while reading, watching W. on the o Moss SE, Klein R, Klein BE.Incidence of dry eye in
confluent determined at nasal, temporal conjunctiva computer or driving an older population. Arrh Ophthalmo/2004;122:
& cornea, then sum scores; a total ~4 is abnormal) 369-373.
Avoid drying or irritating environments
Pethologkal Findings Graham JE, Moore JE, Goodall EA. et al.
Schirmer Test I <5.5 mm on repeated testing Is
Issues for Refeml Concordance between common dry eye diagnostic
Patients with signs and symptoms of S]!Sgren's tests. Br J Ophthalmo/ 2009;93(1}:66-72.
consistent with Aqueous tear-<leficient dry eye
syndrome should be evaIuated by a rheumatologist. Penry HD, Solomon R, Donnenfeld ED, et al.
o Tear breakup test <1 0 seconds on repeated testing
is consistent with eYapollltive dry eye SURGERY/OTHER PROCEDURES EvaIuation of topical cyclosporine for the treatment
Aqueous tear-deficient dry eye (I.e., Schirmer Test I First line of dry eye disease. Arch Ophthalma/ 2008;126:
<5.5 mm} and dry mouth needs a further work-up - Preserving moisture 1046-1 OSO[A].
for SjOgren's Syndrome o Pu nctal plugs Vogel R, Crockett RS, Oden N, et aI. Demonstration
Vlln Bl]sterveld score of ;::4 Is consistent with dry o Pu nctal occlusion of efficacy in the treatment of dry eye disease with
eyes of any type Second line 0.18% sodium hyaluronate ophthalmic solution
-Exposure (VIsmed, Re]ena}. Am J Ophtha/mol2 01 0;149:
DIFFERENTIAL DIAGNOSIS o Eye lid spring 5~01.
Allergic conjunctivitis o Eye lid gold weight o Jackson WB. Management of dysfunctional tear
Corneal foreign body o Tarsonhaphy syndrome: A Canadian consensus. Can J
o Conjunctival foreign body o Ud lengthening Ophthalmo/ 2009;44:385-394.
Trlch lasIs o Conjunctival flap
o Hypoglossal transposition
. TREATMENT . CODES
ONGOING CARE ICD9
MEDICATION
FirstUne FOLLOW-UP RECOMMENDATIONS 373.02 Squamous blepharitis
SupplementaI moisture Patient Monltotfng 373.12 Hordeolum lnternum
-Artificial tear drops (usually more visoous It can take 2 weeks to know if a new artificial tear, o 375.15 Tear film insuffidency, unspecified
fonmu lations for evaporative dry eye, usually less warm compresses or pi ugs are helping
viscous formulations for Aqueous tear-defldent), It can take 4 weeks to know that doxycycline or
gels. sprays cydosporin A drops are helping CLINICAL PEARLS
Preserving moisture
DIET All artificial tears are formulated differently, patients
-Artificial tear ointment. h.s during day Stay hydlllted
-Humidifier will need direction.
A diet high in Omega 3 fatty acids There are different types of dry eye that have
SfKOIIdUne dlfferent mechanisms and treatments.
Seborrheic blepharitis PROGNOSIS
o It is important to check for Sjogren's Syndrome. ask
- Eyelid margin scrubs Excellent, for most patients dry eyes are easily
controlled about a dry mouth.
- Culture eyeIid margin then antibiotic
Meibomian gland dysfunction
- Warm compresses (gel fi lied)
- Eyelash scrubs contraindicated
- Doxycycline
- Omega-3 supplements
o Exposure
- Moisture chamber h.s
- Lid taping h.s
257
DUANE SYNDROME
Leonard B. Nelson
Rizwan A. A/vi
Scott 0/itsky
Other loci noted based on chromosomal aberrations:
del4q27-31, 22pter-q11 (mark.er chromosome),
trisomy 8, del1 q42 .13-43 (with abnormal
DESCRIPTION cerebellum) HISTORY
A congenitalf!Ye movement disorder characterized Duane+ radial ray (Oidhiro syndrome)+/- Child presents with an f!Ye that does not appear to
primarily by abduction deficiency, associated with hearing/heart/renal/absent thumbs due to mutations abduct and history of possible esotropia.
globe retraction and palpebral fissure narrowing on in SALL4 (20q13.2). Autosomal dominant. Also PHYSICAL EXAM
attempted adduction as well as possible adduction causes IVIC syndrome = thrombocytopenia + radial Absence of abduction with possible limitation of
limitation. ray defect + hearing loss adduction, retraction of globe in attempted
Type I. Marked limitation or complete absence of Duane+ anal abnormalities + renal +ear+ adduction, and up and down shooting or both in
abduction. normal or only slightly restricted thumb abnormalities and occasional cataract, adduction
adduction. coloboma, optic atrophy, limbal dermoid (Town Full ocular examination with attention in particular
Type II. Limitation or absence of adduction with Brock.s syndrome) due to mutation in SALL 1 to amblyopia and possible face turn
exotropia of the affeded eye. Nonmal or slightly (16q12.1 ). Autosomal dominant Ocular anomalies may include dysplasia ofthe iris
limited abduction. stroma, pupillary anomalies, cataract,
GENERAL PREVENTION
Type 111. Severe limitation of both abduction and heterochromia, Marcus Gunn jaw winking,
None
adduction. coloboma, crocodile tears, and microphtllalmos.
PATHOPHYSIOLOGY Full physical examination for associated systemic
EPIDEMIOLOGY
Various theories include structural and innervational abnormalities
Incidence anomalies of the extraocular muscles as well as
Found in approximately 1% of individuals with Consider audiology especially if speech delay or
absence or hypoplasia of the sixth nerve nucleus. malformation of external ears
strabismus Up and down shoots and globe retraction due to
- More frequently coin nervation of the horizontal and vertical rectus DIAGNOSTIC TESTS It INTERPRETATION
- More common in females muscles or. for the former. slippage of the lateral Lab
- Bilateral less frequent rectus muscle above or below the eye, commonly None
Prevalence referred to as a "leash phenomenon. Imaging
Unknown None
ETIOLOGY
RISK FACTORS Considered as one of the congenital cranial Follow-up & special considerations
Thalidomide ingestion during first trimester dysin nervation disorders (CCDD) Cine-MRI has been used to characterize upshoot
Associated with some specific syndromes Embryologic field defect involving branchial arches and downshoot movement
Genetics particularly when associated with Klippei-Feil High resolution MRI of brain may identify associated
Two genes k.nown to be causative when mutated: anomaly, oculo-auriculo-vertebral spectrum (e.g . malformation or abnormalities of sixth cranial nerve
CPAH (carboxypeptidase, 8q12-13, DURS1) and Goldenhar). hearing loss. and Wildervanck and its nucleus
CHN1 (alpha2 chimerin, 2q31-32, DURS2). Both syndrome.
autosomal dominant. DURS2 80% type 1 Duane COMMONLY ASSOCIATED CONDITIONS Consider audiology
and 20% type 3 Congenital labyrinthine hearing loss Pathological Findings
DURS1 can also be involved in contiguous gene Amblyopia Autopsy findings include hypoplasia or aplasia of sixth
deletion syndrome: branchio-oto-renal syndrome Anomalous head position (face turn) Strabismus in cranial nerve
overexpression, 80% type 1, 20% type 3 primary position
Sixtll Nerve Palsy
Congenital Esotropia
Exotropia
Orbital fracture, tumor, or restrictive infiltrative
process
258
DUANE SYNDROME
If an up or down shoot of the eye occurs, surgical COMPLICA110NS

. TREATMENT options lndude recessing a stiff, fibrotic lateral o Recession of the medial rectus more than 6 mm may
rectus musde, perform lng a Y-spl!nlng of the muscle cause conserutlve exatropla.
MEDICATION or placement of a posterior fixation suture to reduce Amblyopia
None the leash effect when present.
o Patients who suffer from a cosmetically noticeable
ADDITIONAL TREATMENT ADDITlONAL READING
retraction of the globe in attempted adduction may
General Measures benefit from recession of both horizontal recti to
Before su ~ery is contemplated, coexisting sign ificarrt Isenberg S, Urist MJ. Clinical observations in 101
reduce the ex>-contraction. This can be done in the
refractive errors. anisometropia, and amblyopia should consecutive patients with Duane's retraction
absence of a deviation in primary gaze or adjusted
be treated. syndrome. Am J Ophthi/mol1972;84:419.
to eliminate a deviation if present.
Issues for Refetral Jampolsky A. Duane syndrome. In: Rosenbaum AI.,
I
IN-PATIENT CONSIDERATIONS Santiago AP, eds. Clinical srrablsmus matMgement:
Consider genetic consult if other malformations
None Ptindples and surgical techniques. Philadelphia:
present or genetic testing desired.
Saunders, 1999:325-346.
Addltlanal Thelilples
Occlusion or penalization therapy for amblyopia ONGOING CARE
Glasses for refractive error FOLLOW-UP RECOMMENDATIONS . CODES
COMPLEMENTARY a ALTERNATIVE Follow the child for the development of amblyopia,
THERAPIES strabismus in the primary position, or a face tum. ICD9
None l'atient Monitoring 378.71 Duane's syndrome
SURGERY/OTHER PROCEDURES Periodic for assessment of vision and aIignment
Indications for surgery lndude: PATIENT EDUCATION CLINICAL PEARLS
- 1. Significarrt deviation in primary position. o http:Jtwww.expelienceproject.com/groups/Have
-2. Anomalous head position. Duane-Syndrome/97737 Most children with Duane syndrome have no
- 3. Large up or down shoot or retraction of the http:Jihealth.groups.yahoo.CDmfgroup/duanesl strabismus in the primary straight ahead position.
globe that is cosmetically intolerable. Duane syndrome does not usually worsen with age.
Surgery usually involves recession of the medial or PROGNOSIS
o Surgery can help to reduce or eli minalE an
lateral rectus for patients w!tll esotropia of
exotropia. Some surgeons prefer transposition assoda!Ed face tum.
surgery. The medial rectus of the involved eye is Few patients show Improvement In abduction
usually tight and forced duction testing is often following surgery and some patients undergoing
positive because of the corrtracture of the muscle. medial rectus recession may have a deaease in
Resection of the ipsilateral lateral rectus should adduction. In patierrts with significant
almost never be performed because it will inaea.se co-contraction, large over-corrections can occur
retraction of the globe in adduction. following mediaI rectus recession.
Excellent prognosis for vision If amblyopia and
refractive error addressed
o Su ~ k:al results can be very sillisfactory.
259
DYSLEXIA
Michael D. Tibbetts

Some children may have visual problems that
contribute to primary reading or learning
Imaging
Currently, there is no indication for imaging in the
DESCRIPTION dysfunction standard evaluation of dyslexia or other learning
Dyslexia is a primary reading disorder. It is -Treatable ocular conditions include: disorders_
characterized by difficulty in understanding and o Strabismus
using alphabetic and logographic principles to o Amblyopia
Diagnostic Procedure~th~r
acquire accurate and fluent reading skills o Convergence and/or focusing deficiencies
Dyslexia as well as other learn1ng disorders should
- Results from a written word processing o Refractive errors
not be diagnosed by physicians but by educators.
abnormality in the brain psychologists, or neuropsychologists with
~ DIAGNOSIS
- Not explained by sensory deficits, cognitive specialized, comprehensive assessments.
deficits, lack of motivation or lack of adequate Standardized tests of reading including:
reading instruction -Comprehensive Test of Phonological Processing in
HISTORY Reading
- Historically termed "word blindness, but most In young children, language delay or not attending
commonly due to deficit in auditory processing of -Woodcock Johnson Tests for word decoding
to the sounds of words: -Gray Oral Reading Test for fluency
language (phonological processing) and not visual -Trouble learning letters of alphabet or nursery
processing In the future, the combination of standardized
rhymes
-Word reversals and skipping words result from neurocognitive tests, neuroimaging, genetic and
- Confusing words that sound alike or
linguistic deficiencies rather than visual or familial information may improve diagnosis and
mispronouncing words
perception disorders allow for earlier intervention.
In older children, slow and laborious reading and
EPIDEMIOLOGY writing Pathological Findings
Prevalence Discrepancy between general intelligence (IQ) and Functional neuroimaging studies have revealed
In a population, reading ability and reading disability standardized reading test scores differences in brain function and connectivity that
occur along a continuum, with reading disability are characteristic of dyslexia: (3)
PHYSICAL EXAM - Reduced or absent activation of left
representing the lower tail of the distribution
If a child has suspected learning disabilities, child temporoparietal cortex
Depending on definition, 5-17% of children should be evaluated for medical problems which -Atypical activation in other regions including:
affected; boys more than girls could affect the child's ability to learn o left prefrontal regions associated with verbal
-Similar rates across languages
Children with dyslexia should have hearing and working memory
Approximately 80% of people with learning visual screenings. according to national standards o left middle and superior temporal gyri
disabilities have dyslexia for all children associated with receptive language
RISK FACTORS -Visual screening with non-letter symbols may be o left occipito-temporal regions associated with
Genetics necessary for testing children with dyslexia visual analysis of words and letters.
Strongly heritable (54-75%) Children with dyslexia have the same visual Experimental functional neuroimaging studies have
- 68% concordance in identical twins and 40% of function and ocular health as other children demonstrated brain plasticity associated with
individuals with affected parent or sibling (l)[A[ effective intervention for dyslexia
- Heritability greater among children whose parents - Dyslexia is not caused by subtle eye or visual - Neuroimaging studies have not revealed any
have higher education level problems including (2)[A[: differences in the brains of children who do and
Polygenic inheritance do not respond to treatment
-Visual perceptual disorders
-At least 9 associated loci
- Refractive error
GENERAL PREVENTION - Abnonmal focusing
Early identification and intervention key to improving - Jerlcy eye movements,
outcomes - Binocular dysfunction
- Misaligned or crossed eyes
EnOLOGY
Readers with dyslexia may have saccadic eye
Disorder within the language system, specifically
movements and fixations similar to beginning
phonological processing:
readers but show normal saccadic eye movements
- Disruption of left hemisphere posterior brain
when content is corrected for ability
systems while performing reading tasks
- Increased reliance on ancillary brain regions - Saccadic patterns are result of reading disability
including frontal lobes and right hemisphere but not the cause
posterior circuits
Vision problems can interfere with the process of
learning.
However, vision problems are not the cause of
primary dyslexia or learning disabilities.
260
DYSLEXIA
DIFFERENTlAL DIAGNOSIS lssllfls for llflfwral 3. Shaywitz SE, Shayv.itz BA. Pugh KR, et al.
Other Important reasons for reading failure on the Patients with suspected learning disabilities should Functional disruption In the organization af the
population levellndude: be referred for funher educatlonaI, psychological, or bJaln for reading In dyslexia. Proc Nall ACildSd
- Reduced vocabulary and strategies needed for text other appropriate evaluation. US A 1998;95(5~2636-2641.
comprehension If vision problem is suspected, children should be 4. Barrett B. A critical evaluation of the evidence
- Reduced motivation to read referred to an ophthalmologist with experience in supponing the practice of behavioural vision
- Both these reasons are often tied to assessment and treatment of children. therapy. Ophthalmic Physio/ Opt 2009;29(1):4-25.
sodoeconomlc factors at home and at sdlool 5. Schatschnelder C, Torgesen JK. Using our current
Attention deficit hyperactivity dborder (ADH D) understanding of dyslexia to support early
THERAPIES
Aphasia Scientific evidence does not support alternative identification and intervention. J ChUd Neurol
Auditory processing disorder therapies aimed at visual training. 2004;19(1 0}:759-765.
I
Less common reasons indude visual problems sud1
as strabismus, amblyopia, and refractive errors.
Other conditions such as convergence lnsufflclency ONGOING CARE . CODES
and poor accommodation (both of which are rare in
children under age 1Dyears) can interfere with the FOLLOW-UP RECOMMENDATIONS ICD9
physical act of reading but not decoding and Multidisciplinary management by educators 368.DO Amblyopia, unspedflecl
comprehension. PATIENT EDUCATION 378.9 Unspedf!ed dborder of~ movements
rl TREATMENT
The lntl!rnational Dyslexia Association (http:flwww.
interdys.org)
PROGNOSIS
Persistent ch ronlc condition, not a tr.~nslent
784.61 Alexia and dyslexia
CLINICAL PEARLS
General Meuutes developmental lag Dyslexia is a primary reading disorder from a word
Multidisciplinary evaluation and management A student who fails to read adequately in the 1st processing abnormality in the brain.
Explidt and systematic intensive instruction in small grade has a 90% probability of reading poorly in 4th Dyslexia is not due to a llisual problem.
groups in phonologicaI awareness and decoding grade and a 75% probability of reading poorly in
It Is Important to recognize the signs and symptoms
strategies high sd1ool
of dyslexia earty so that affected children can receive
-Improvements more likely ln younger children For students with dyslexia, early Intervention appropriate instruction and improve their longtl!rm
(ages 6-8 years) than in older children (before the 3rd glillie) is key to improving reading reading ability.
Providing accommodations for older d1ildren ability (5) [C]
including exllll time for reading. spell d1Kk
computer programs. tape recorders
REFERENCES
Vision training is not a primary or adjunctive
ther.~py for dyslexia (4)[8 [ 1. Helveston EM, Weber JC, Miller K. et al. Visual
function and academic performanee. Am J
Scientific evidence does nat support the following Ophtha/moi 1985;99(3):346-355.
alternative therapies for improving the long-term
educational performance efficacy: 2. Polataj leo HJ. Visual-ocular control of normal and
- Eye exerdses learning disabled children. Dev Med Child Neuro/
- BehavioJal vision theJapy 1987;29(4):477-485.
- Spedal colored or tintl!d filtl!rs or lenses
261
EAI.B DISEASE
P. KumarRao
Imaging
Initial approach
Fluorescein angiography (FA) is helpful to analyze
DESCRIPTION HISTORY presence of active vasculitis, vascular damage, and
An idiopathic obliterative vasculopathy. The classic The most common symptoms include decreased vision to look for areas of nonperfusion and
triad is a retinal phlebitis, associated witf1 peripheral and cobwebs or floaters. neovascularization.
retinal nonperfusion and vitreous hemorrhage, PHYSICAL EXAM OCT may reveal cystoid macular edema and/or
typically in young adults. Retinal phlebitis appears as vascular sheathing with epiretinal membranes.
EPIDEMIOLOGY adjacent nerve fiber layer hemorrhages and hard Follow-up & special considerations
Incidence exudates. Patients should be monitored for neovascularization of
Most commonly reported in India and the Middle Over half of patients will have bilateral disease. tf1e retina, iris, and anterior chamber angle. Retinal
East. Anterior chamber cell and flare with keratic neovascularization may lead to vitreous hemorrhage.
In India, it occurs in 1/2 50 patients witf1 eye precipitates may be present. Vitreous debris and Epiretinal membranes may develop after pan-retinal
disease. cells, as well as vitreous hemorrhage, can be seen. photocoagulation (but may also occur without laser
It usually occurs in adults 2D-30 years old. Cystoid macular edema may be present. photocoagulation).
Prior studies suggested a higher incidence in men; Non perfusion in the temporal periphery is typical Diagnostic Procedures/Other
however recent reports suggest a more even and is associated with other microvascular changes Eales disease is diagnosis of exclusion and therefore
distribution between men and women. such as microaneurysms, venous shunting, venous entities in the differential diagnosis must be ruled
beading, hard exudates, and cotton wool spots. out with appropriate history, physical exam, and
RISK FACTORS Neovascularization of the disc or elsewhere in the ancillary testing.
Living in areas such as India and the Middle East. retina is present in up to 80% of patients. MRl testing of the CNS may reveal multifocal white
PATHOPHYSIOLOGY Neovascular glaucoma may also occur. matter abnormalities.
A nonspecific obliterative vasculitis. DIAGNOSTIC TESTS & INTERPRETATION DIFFERENTIAL DIAGNOSIS
A hypersensitivity to tuberculin protein has been
suggested, and tubercle bacilli have been identified in
Lab Siclde cell disease.
Initial lab tests Diabetes mellitus.
pathology specimens.
No specific testing can determine the diagnosis; Branch retinal vein or artery occlusion.
COMMONLY ASSOCIATED CONDITIONS however Eales disease is a diagnosis of exclusion and Retinal embolization.
Myelopatf1y, ischemic stroke, hemiplegia, multifocal testing should be done to rule out causes of vasculitis
Retinopathy of prematurity.
white matter abnormalities, and vestibuloauditory (see Differential Diagnosis section).
Familial exudative vitreoretinopathy.
dysfunction have been reported. Follow-up & special considerations
Hyperviscosity syndromes (e.g., leukemia).
lumbar puncture (not routinely needed) shows
pleocytosis of CSF. In addition, MRI and CT imaging Ocular ischemic syndrome.
may be used to identify CNS lesions.
262
EALES DISEASE
Carotid-cavernous fistula. 3. lshaq M, Feroze AH, Shahid M, et al.lntravitreal

Multiple sclerosis. ONGOING CARE steroids may fadlltate treatment of Eales' disease
Toxemia of pregnancy. (idiopathic retinal vasculitis): An interventional tase
FOLLOW-UP RECOMMENDATIONS series. Eye (Lone/) 2007;21(11):1403-1405. Epub
Sarmidosis.
Patient Monitoring Sept 15, 2006.
Collagen-vaswlar disease.
Patients should been followed every 3 to 12 months, 4. Therese ICI... Deepa P, Therese J, Bagyalakshmi R,
vasculitis secondal) to infection. depending on the extent of nonperfusion and Biswas J, Madhavan HN. Association of
Uveitis. neovascularization. mycobacteria with Eales' disease. lnd 1 Med Res
Blrdshot retlnoc:horoldopathy. 2007;126(1):56-62.
Toxoplasmosis. PATIENT EDUCATION
Patients should be tauglrt the symptoms of vitreous
Acute retinal necrosis.
hemorrhage. such as sudden onset of floaters. Early
Long-standing retinal detachment detection and treatment of vitreous hemorrhage and f ; coDES
Retinitis pigmentosa. neovascularization can allow laser photocoagulation,
Retinosch isis. which may prevent the tr.~ctional complications such ICD9
Choroidal melanoma or hemangioma. as retinal detachment or neovascular glaucoma. 362.18 Retinal vasculitis
lncondnenda plgmentl. 379.23 Vrtreous hemorrhage
PROGNOSIS
rl
I
The majority of patients maintains 20140 vision or
TREATMENT better with disease stabilization.
CLINICAL PEARLS
COMPLICATIONS
ADDITIONAL TREATMENT Retinal neovascularization, rhegmatogenous retinal Suspect Eales disease in young men from India who
lmle.s for Refeal detachment.. vitreous hemorrhage, and traction retina I have no other underlying systemic disease that
CNS findings warrant a referral to neurology. detachment can also OCOJr. could cause retinal neovaswlarization.
COMPLEMENTARY 8t ALTERNATIVE
THERAPIES REFERENCES
Thyroid extract. osteogenic hormones. androgenic
hormones, and .systemic steroids and antioxidant 1. Chanana B, Azad RV, Patwardhan~ Role of
vitam ins A. C, and Ehave been suggested. None have intravitreal bevadzumab in the management of
been prt11151 effective in lt1e treatment of this disease. Eales' disease. lnt Ophtha/mal 201 0;30(1):57-ii1.
Epub Jan 23, 2009.
SURGERY/OntER PROCEDURES 2. Das T, Pathengay A. Hussain N, Biswas J. Eales
Pa nretinal photocoagulation for neovascular disease: Diagnosis and management. Eye
complications is necessary. 2010;24:472-42.
VJtrectomy and membrane removal may be
considered for eplretlnal membranes.
Both oral steroids and intrllvitreal triam(inolone has
been used to stabilize vascular leakage.
lntravitreal bevacizumab has been used to induce
regression of neovaswlarization.
263
ECTOPIA LENTIS
Dorothy H. Hendricks
~ BASICS Hyperlysinemia is caused by mutation in the

alpha-aminoadipic semialdehyde synthase gene
(AASS, 7q31.3)(6).
~ DIAGNOSIS
DESCRIPTION Virtually any form of glaucoma resulting in HISTORY
Displacement of the lens. buphthalmus may rarely be a cause of ectopia lentis. Family history of ectopia lentis or any of the
This may be divided into subluxed lens, which is The genetics of the underlying disorder determine above-mentioned associated conditions.
partially displaced, and luxated or dislocated lens, the inheritance pattern. The same holds true for History of ocular trauma.
which is completely displaced. other rare syndromic causes of ectopia lentis and PHYSICAL EXAM
May be an isolated anomaly, or associated with coloboma. Full ocular examination including slit lamp
various systemic diseases or trauma. Persistent ocular fetal vascular is usually not genetic examination pre- and post-dilation.
EPIDEMIOLOGY (see chapter). Pupil position (e.g., corectopia).
lnddence GENERAL PREVENTION Assess if zonules absent, broken, or stretched.
Marfan disease 4-611 00,000 births (1) and Genetic counseling. Assess if lens edge flat, round, crenulated.
approximately 6D-75% have ectopia lentis. Some recommend restricted activity or protective Measurement of intraocular pressure.
Homocystinuria 1/200,000 births (1) and polycarbonate lens in patients with systemic Cycloplegic refraction and assessment of vision: Can
approximately 80-85% have ectopia lentis. conditions associated with ectopia lentis. refract through aphakic (with or without
Some forms of homocystinuria may respond to pharmacologic mydriasis) or phakic visual axis for
Prevalence
Unknown. vitamin B6, methionine-restricted diet. betaine, or best vision.
supplementary cysteine (1 ). Full physical exam for systemic associations.
RISK FACTORS -This treatment has been shown to reduce the
Trauma. incidence of lens dislocation. DIAGNOSTIC TESTS & INTERPRETATION
Family history. Lab
PATHOPHYSIOLOGY lnitiall111b tests
Marfan syndrome Weakening or stretching of the zonular attachments
Type 1 Ehlers-Danlos. None if history of ocular trauma (ectopia always
lens (1). unilateral).
Weill-Marchesani
ETIOLOGY All patients without clear family history or diagnosis
Homocystinuria. and no trauma should have urine/blood
Traumatic rupture of zonules.
Hyperlysinemia. homocysteine levels as risk of stroke/death under
Congenital zonular deficiency (e.g., ciliary body
Sulfite oxidase deficiency. general anesthesia.
coloboma).
Molybdenum cofactor deficiency. Follow-up 1ft special considerations
Defective zonules that results in weakening.
Infantile glaucoma with buphthalmos. - Marfan-defect in fibrillin. Genetic consult for further work up and evaluation if
Persistent ocular fetal vasculature. - Eh lers-Danlos-defect in type V collagen. warranted.
Coloboma of ciliary body. - Homocystinuria-zonules deficient in cysteine. - Consider cardiology consultation.
Genetics COMMONLY ASSOCIATED CONDITIONS Imaging
Isolated ectopia lentis can be autosomal dominant Marfan syndrome: Aortic root dilation, Marfanoid Initial approach
due to mutations in the fibrillin 1gene habitus, pectus excavatum/carinatum, and other Consider echocardiogram if considering Marfan
(FBN1, 1Sqll), the same gene involved in Marfan features. syndrome or Weill-Marchesani.
syndrome (1). Eh lers-Danlos: joint laxity, cigarette paper scars Follow-up a special considerations
An autosomal recessive form of isolated ectopia of skin and other features. Follow for increased movement of lens, change in
lentis is associated with mutation in ADAMTSL4 Weill-Marchesani: short stature, cardiac vision/refraction, and amblyopia.
gene (1 q2 1) (l). abnormalities, abnormal hands -Weill-Marchesani follow for progressive
Ectopia lentis et pupillae is autosomal recessive (3), Homocystinuria: Developmental delay (50%), shallowing of anterior chamber and secondary
gene unknown. Marfanoid habitus, premature grey hair, closed angle glaucoma.
Weill-Marchesani may be autosomal dominant due hypercoagulability and other features. -Glaucoma risk also in other forms of ectopia lentis
to mutation in FBN 1 or autosomal recessive due to (Marfan, persistent ocular fetal circulation,
Hyperlysinemia: Severe developmental delay.
mutations in ADAMTS 10 (19p 13.3) or ADAMTS 17 trauma).
Sulfite oxidase deficiency: Severe developmental
(15q24) (4).
delay.
Type 1 Ehlers Danlos is due to mutations in
collagens COLSA1, COLSA2, or COL1A1.
Homocystinuria is autosomal recessive and linked to
the gene coding cystathionine beta-synthase
(21 q22.3) (1). Other less common disorders of
cysteine metabolism may also be associated with
ectopia lentis.
Mutation in the sulfite oxidase gene (SUOX,
12q 13.1 3) cause autosomal recessive sulfite oxidase
deficiency (5).
264
ECTOPIA LENDS
Diagnostic ProCIIrJu/WSIOthaT IN-PATIENT CONSIDERATIONS REFERENCES

Molewlar genetic testing as indicated. Inftlel Stabilization
A.s needed for associated systemic diseases. 1. Neely DE. Plager DA. Management of ectopia lentis
Pathological Findings In children. Ophthalrnc/ Clln North America
Fibrill inopathy: Loss of periodidty in zonules with - If lens in anterior chamber maintain supine
fibrillin staining. position. 2001 ;14(3):493-497.
- Hamocystinuria and related disorders: PAS positive 2. Ahram D, Sato TS, Kohilan A, et al. Ahomozygous
Admission Crltetffl mutation in ADAMTSL4 causes
zonular material on lens edge and ciliary body. A.s indicated by systemic disease.
-Weill-Marchesani: Peripheral anterior synechia. autosomal-recessive isolated ectopia lentis. Am J
-Admit all patients w1t11 homocystlnurla Hum Genet 2009;84:274-278.
DIFFERENTlAL DIAGNOSIS undergoing surgecy night before and after surgecy.
3. Colley A. Lloyd IC, et al. Ectopia lends et pupillae:
Microspherophakia. IV Fluids The genetic aspetts and differential diagnosis.
Hamocystinuria 1.5 x maintenance starting night J Med Genet 1991 ;Nov 28(11 ):791-794
before surgery and continuing through 1 night after. 4. Faivre L Dollfus H. Lyon net 5, et al. Clinical
TREATMENT Nursing homogeneity and genetic heterogeneity in
MEDICATION Maintain supine position and strict bed rest as long as Weill-Marchesani syndrome. Am JMed Genet
Hamocystinuria (see earlier}. lens in anterior dlamber. 2003;123A:204-207.
If lfns dislocared into anterior dlamber consider Discharge Criteria 5. Kisker C, Schindelin H, Pad1eco A, etal. Molecular E
glaucoma treatment induding mannitol to shrink If lens is not returned to retropupillary position by basis of sulfite oxidase defidency from the structure
vitreous. topical steroids ID reduce inflammation, medical means, lensectomy before discharge. of sulfite oxidase. CeU 1997;91 :973-983.
and short acting mydriatics with patient in supine 6. Sacksteder KA, Biery BJ, Morrell JC, et al.
position. After lens floats back. behind pupil, then ldentlftcatlon of the alpha-amlnoadlplc
pilocarpine. $ ONGOING CARE sem!aldehyde synthase gene, which Is defective In
Weill-Marchesani: Aggressive cydoplfgia (e.g., familial hyperlysinemia. Am J Hum Genet
FOLLOW-UP RECOMMENDATIONS 2000;66:1736-1743.
atropine) may deepen anterior chamber as Routine ophthalmic examination depending on degree
shortterm treatment. of dislocation and presence of other pathology
ADDITlONAL TREATMENT including amblyopia. . CODES
General Measures l'lltient Monitoring
Correction of refractive error (1 ). Cardiology, metabollcs, developmental services as ICD9
- Treatment of amblyopia if present needed. 743.37 Congen itaI ectopic lens
Issues for Refet'l'81 - Visual awity, intraocular pressure. 996.53 Mechanical complication of prosthetic
Genetic consultation. DIET ocular lens prosthesis
-Cardiology as indicated. Methioni~nestricted diet in patients with
- Metabolics consu Italion as indicated. hom~lnu~a.
ArlrJit:lonal Tllaraplfls CLINICAL PEARLS
PATIENT EDUCATION
Massage of mrnea may be needed to release lens Genetic counseling. Trauma rarely cause bilateral ectopia lentis.
dislocated Into anterior chamber. http://Www.marfan.cal and If considering surgery and diagnosis not clear, do
COMPLEMENTARY a ALTERNATIVE http://Www.marfan .o~marfanl. urine and blood homocysteine measurement and
T11ERAPIE5 http:/Jwww.mdjunctlon.comlhom~lnur!a. ECG.
None. If cannot darify vision through phakic visual axis,
PROGNOSIS
SURGERY/OTHER PROCEDURES consider aphakic correction with pharmacologic
Good visual prognosis with early intervention and
mydriasis as needed.
L.ensectomy and anter!or vltrectomy. routine follow-up.
- Typically poor zonule support prevents lens Even in patients requiring lensectomy most achieve
implantation in children (1). vision of 20/40 or better (1).
- Contact lens or spectades are then used for -If not complicated by umreated amblyopia.
aphakic correction.
-Weill-Marchesani: Early lensectomy advised if COMPUCATIONS
anter!or chamber deepening. Ambtjopia, glaucoma, retina I detachment (partiwlarly
- Use of argon laser iridoplasty or YAG laser lysis of in patients with Marfan disease), lens dislocation.
zonu les has been reported.
265
ECTROPION
Thaddeus S. Nowinski
~ BASICS Pediatric Considerations

Congenitai-Biepharophimosis, Downs, Ichthyosis,
Lab
congenital eyelid eversion, facial dysmorphic Bells palsy-Lyme titers.
DESCRIPTION syndromes. Congenital eversioninclusion conjunctival swab.
Outward turning/eversion of the upper eyelid
margin. ETIOLOGY DIFFERENTIAL DIAGNOSIS
Types: Drug toxicity, eyedrops or systemic. Thyroid ophthalmopathy.
- Congenital. Severe cellulitis. Floppy eyelid syndrome.
- Involutional (most common).
- Paralytic.
- Cicatricial.
Bells-Lyme
rJ TREATMENT
EPIDEMIOLOGY
lnddence
~ DIAGNOSIS MEDICATION
First Line
Bells palsy-25 per 100,000. HISTORY Ocular lubrication.
Prevalence Foreign body sensation. Artificial tears, gel, ointment.
Involutional ectropion-increases with age. Redness. Second Line
Tearing. Ocular antibiotidsteroid ointment to lower eyelid
RISK FACTORS
Mucous secretion. skin (1)[C].
Increased skin sun sensitivity.
7th nerve palsy. Bells palsy.
Lighter iris color.
Previous surgery-cosmetic, ENT, neurosurgery, -Corticosteroids.
Diabetes.
MDHS. -Possible antivirals (2)[C].
Hypertension.
PHYSICAL EXAM lyme-antibiotic tx
Stroke.
Outturning of eyelid margin, pull away of eyelid Herpes zoster-antiviral tx, possible corticosteroids.
Smoking.
from globe. ADDITIONAL TREATMENT
PATHOPHYSIOLOGY Lagophthalmos.
lnvol utional---florizontal eyelid laxity. General Measures
Hyperemia/keratinization of conjunctival epithelium. Warm compresses.
Cicatricial--skin contracture secondary to Retractor disinsertion.
inflammatory or infiltrative dermatitis, tumor, Temporary taping of eyelid.
previous eyelid, or facial surgery Superficial punctuate keratitis. Possible cyanoacrylate at lateral canthus.
Horizontal eyelid laxity.
Paralytic-Bell's palsy, herpes zoster, parotid gland Issues for Refe"al
surgery, surgery involving the 7th nerve. Lacrimal punctal eversion and atresia. Ophthalmologist for cornea monitoring 1 week.
Allergic-<ontact dermatitis. Inability to push lower eyelid up to normal position
(cicatricial). Additional Therapies
Cicatricial---fTlassage.
Signs of 7th nerve palsy (paralytic)--check
orbicularis squeezing tone. Palsy---fTlassage, TENS unit.
Bells Palsy-signs of herpes zoster (Ramsay Hunt).
signs of sarcoid (Heerfordt's).
266
ECTROPION

THERAPIES
REFERENCES a S11 Alia (Tapic, Al1arithm, Elactranic
~ Media Ele11en0
Hyaluronic add flller Injection. 1. Libau J, Schulz A. Arens A, TIIkorn H. Schwipper V.
Management of lower lid ectropion. Dermatolo www.asaprs.org
SURGERY/OTHER PROCEDURES Surgery 2006;3 2:1 050-1 056. Topic
lnvolutiona1---florizonlilltightening, medial spindle. 2. De AI meida J, et al. Combined corticosteroid and -Bells palsy
Paralytic---iame, upper lid gold weight. wait months antiviraltrea'lmentfor Bells palsy. A systema'lic - Herpes zoster
before surgical repair to a!low for spontaneous relliew and meta-analysis. lAMA 2009;985-993. - cyme disease
Improvement unless cornea threatened (3)[C]. 3. Mehta R. Sugical treatment of facial paralysis. Clin Figure
Clcatrldal-above, full th lckness skin graft, flap. or Exp Orothlno/aryngo/ 2009;2:1-5.
midface suspension.
ADDITIONAL READING . CODES

ONGOING CARE
Fezza J. Nonsurgical treatment of dcatricial ICD!t
FOLlOW-UP RECOM MENDA110NS ectropion with hyaluronic acid filler. Plast Reronstr 374. 10 Ectropion, unspedfied
Bells palsy--ophthalmologist in few days. Surg 20().11;121 :1009-1014. 374.12 Mechanical ectropion
Involutional ectroplon-2 weeks.
I
Heimmel M, Enzer Y, Hoffman R. 743.62 Congen itaI deformities of eyelids
PROGNOSIS Entropion-ectropion: The Influence of axlaI globe
Surgery may be needed if cornea affected or very projection on lower eyelid malposition. Ophrha/mlc
symptomatic. Plast Recrmstr Surg 2009;25:7~. CLINICAL PEARLS
lnvolutionaI. Mehta R. Surgical treatment of fadal paralysis. Clin
Exp OtcNhino/arynga/2009;2: 1-S. Most forms are ectropion can be treated
Paralytic-may resolve depending on etiology. conservatively to protect the cornea before elective
COMPLICATIONS surgery is considered.
Corneal abrasion, ulcer. scarring, perforation. Many cases of involutional ectropion have a
cicatridal component of dermatitis, which may
respond to a short course of topical steroids.
267
EHLERS-DANLOS SYNDROME
Swathi Reddy

Genetics
Abnormal wound healing.
Increased bleeding (platelet aggregation
Varies by type: the kyphoscoliosis and the dysfunction).
DESCRIPTION dermatosparaxis types are autosomal recessive, and Ocular defects.
Ehlers-Danlos syndrome is a group of connective the remaining types are autosomal dominant. - Retinal hemorrhage.
tissue disorders characterized by joint hypermobility, The ADAMTS2, COL 1A2, COl3A 1, COLSA 1, - Retinal detachment (due to stretching of
hyperextensible skin, and fragile connective tissue. COL5A2, PLOD 1, and TNXB genes are all associated collagenous sclera).
New classification system describes 6 types: with Ehlers-Danlos. - Keratoconus.
- Classic type (formerly types I and II, characterized -These genes are responsible for the assembly and - Lens subluxation.
by joint hypermobility, skin laxity and fragility). modification of collagen molecules. -Angioid streaks.
- Hypermobility type (formerly type Ill, characterized -Dry eyes.
by joint hypermobility). GENERAL PREVENTION - Strabismus.
-Vascular type (formerly type IV, complicated by Genetic counseling. -Glaucoma.
arterial or bowel rupture). PATHOPHYSIOLOGY - Blue sclera.
- Kyphoscoliosis type {formerly type VI or Gene mutations result in deficient collagen - Carotid-cavernous sinus fistula.
ocular-scoliotic type, characterized by globe biosynthesis, primarily of types I and Ill, leading to -Globe rupture.
fragility, scoliosis, and skin and joint laxity). fragility of collagen-containing structures. -Myopia.
- Arthrochalasis type (formerly type VIIB, - Posterior staphyloma.
characterized by short stature. joint laxity and ETIOLOGY - Photophobia.
dislocations). The various types of Ehlers-Danlos syndrome are due
to mutations in many genes coding for collagen Musculoskeletal features.
- Dermatosparaxis type (formerly type VII C. - Hyperextensible joints.
characterized by fragile skin with sagging and synthesis or posttranslational modification.
o Spontaneous dislocation.
folding). o Sprain.
- Tenascin-X-deficient type (characterized by joint
hypermobility, hyperelastic skin, and fragile tissue). ~ DIAGNOSIS o Subluxation.
- Kyphoscoliosis (convex curving of the spinal
EPIDEMIOLOGY HISTORY column both backwards and sideways).
Prevalence Family history. - Hallus valgus (bunion).
The prevalence of Ehlers-Danlos syndrome is Muscle weakness. - Pes planus (flat foot).
reported to be 1 in s,ooo- 10,000 individuals. Joint pain. - Genu recurvatum {hyperextension of knee).
However, the disease may be underdiagnosed due Easy bruising. Functional bowel disorder.
to milder presentations. Dental problems. -Gastritis.
-The kyphoscoliosis type affects 2% and is 1 of the Ocular problems. - Irritable bowel syndrome.
less common types. Nerve compression {carpal tunnel).
PHYSICAL EXAM
Sldn usually white, soft, doughy, hyperextensible,
fragile, and with visible underlying vessels.
Flexible fingers and toes.
Molluscoid pseudotumo~pongy tumors
overlying scars
Cardiac defects.
- Mitral valve prolapse.
- Dysautonomia.
268
EHLERS-DANLOS SYNDROME
DIAGNOSnC TESTS & INTERPRETAnON PROGNOSIS

Lab . TREATMENT o Generally patients have a normaiiHespan.
No saeenlng laboratory tests. Risk of large vessel or organ rupture with the
Secondacy laboratocy testing indudes the MEDICATION vasaJiar and kyphoscoliosis types with possible
following: FlrstUne suddl!n death.
- Collagen typing. Unsatisfactory medical treatments. COMPLICAnONS
- Collagen gem~ mutation ll!sting (see Gelll!lics"). Treatment is largely supportive. o Organ rupture (uterus or bowel).
- Lysyl oxidase or ~ydroxylase activity. SemndUne o Vessel rupture (aortic aneurysm).
Imaging Villlmi n C--<ofactor for collagen fibril synthesis. Globe rupture.
No initial imaging. Arthritis.
ADDmONAL TREATMENT
Secondary imaging may show:
- Caldfication of nodules opaque on radiographs. Genel'lll MHsurw
-Joint dislocation/subluxation. Care with surgery (vascular rupture and increased ADDITIONAL READING
bleeding risk).
DMgnosfic Procedutn!Other Care with anesthesia (cervical spine and airway BeighiDn P. Serious Optrthalmological complications
Echocardiograp~y (mitral valve prolapse). trauma). in the Ehlers-Danlos syndrome. Br J O{ilthalmol
Skin biopsy (not sensitive}. Avoidance of contact sports (types IV and VI} due to s4(4l:263-26s. E
l'athologkal Findings spontaneous vascular rupture. Belghton P, De Paepe A. Steinmann B, Tslpouras P,
Hlstology revea Is whorled, sparse, and disorderly Care with pregnancy-reports of premature rupture Wenstrup RJ. Eh lers-Danlos Syndromes: Revised
collagen. of membranes. Nosology, Vi llefranche. 1997. Am J Med Genet
Irregular diameter of fibrils. 77:31-37.
Issues for Referral
o Pollack JS, Custer PL. Hart WM, Smith ME,
DIFFERENnAL DIAGNOSIS O~thalmology.
Fitzpatrick MM. Ocular Complications In
Elastolysis. Dental. Ehlers-Danlos Syndrome Type IV. Ard! Optha/moJ
Loeys-Dietz syndrome. Orthopedics. 115:416-419.
Pseudoxanthoma elastlcum.
Tumer syndrome.
Cartilage-hair hypoplasia syndrome.
$ ONGOING CARE . CODES
Muscular hypotonia. FOLLOW-UP RECOMMENDATIONS
o O~thalmology. ICD9
o Primary care doctor or dermatologist for periodic 361.9 Unspedfled retinal detachment
skin examinations. o 362.81 Retinal hemorrhage
Orthopedics (braces, surgical repair of joints). 756.83 Ehlers-danlos syndrome
o Rehabilitation (physical and DCCUpational therapy).
Genetic counseling prior to pregnancy.
CLINICAL PEARLS
PATIENT EDUCAnON
The Ehlers-Oanlos National Foundation Ehlers-Danlos is underdiagnosed betause of varied
(http:Jiwww.ednf.org). presentation.
o The vascular type of Ehlers-Danlos may not present
with joint hypermobility or skin hyperelasticity.
Ehlers-Danlos syndrome Is primarily a clln leal
diagnosis, and most individuals will not likely have
arry symptoms throughout their lifetime.
269
ENDOPHTHALMinS
Benjamin D. Spirn
Initial infiltration of vitreous by infectious organism
is followed by invasion of ocular tissue by
Lab
Initial lab tests
DESCRIPTION polymorphonucleocytes within 24 h. Blood and urine cultures may be useful in suspected
Endophthalmitis is a serious intraocular Significant photoreceptor damage by 48 h. cases of endogenous endophthalmitis where the
inflammatory reaction marked by inflammation of Experimental models of bacterial and fungal underlying source in not apparent.
intraocular fluid and tissues. endophthalmitis have shown tissue damage Follow-up 1r special considerations
- Infectious causes of endophthalmitis may be continues to occur after organisms are able to be Careful history and physical examination important
classified as postoperative, posttraumatic, or isolated from vitreous cavity; thus, implicating for identifying source in endogenous cases.
endogenous. endotoxin in disease progression.
- Noninfectious causes of endophthalmitis may Consider echocardiogram to rule out endocarditis in
clinically mimic infectious cases (e.g., sterile ETIOLOGY patients with endogenous endophthalmitis.
endophthalmitis). Bacterial or fungal infection of vitreous cavity. Imaging
B-scan ultrasound to evaluate vitreous cavity for
EPIDEMIOLOGY
Incidence ~ DIAGNOSIS vitreitis.
Varies by cause: Postoperative 75% of cases.
posttraumatic 20%, endogenous 5%. HISTORY Vitreous tap (0. 5 cc) for gram stain, culture, KOH
Postoperative endophthalmitis incidence ranges Ocular pain. prep, and fungal culture.
from approximately 0.05-0.16% of cataract cases. Loss of vision. Consider vitrectomy with vitreous tap in patients
Red eye. with nondiagnostic tap.
Prevalence History of recent ocular surgery, trauma,
Endophthalmitis occurs in approximately Pathological Findings
hospitalization, IV drug use. Coagulase negative bacteria followed by 5. aureus
1500 patients in the United States per year.
PHYSICAL EXAM are the most common cause of endophthalmitis.
RISK FACTORS Exogenous cases are typically unilateral, Endogenous cases may also be associated with
Postoperative: Recent ocular surgery, prolonged fungal infection (approx 50% of cases). Candida
endogenous cases may be bilateral.
ocular surgery, wound leak, open posterior capsule, a/bicans and Aspergillus are the predominant
vitreous incarceration to wound. Ocular findings may include the following:
-Adnexal swelling. species.
Posttraumatic: recent penetrating eye trauma, - Conjunctival chemosis and injection.
intraocular foreign body, vegetable matter in DIFFERENTIAL DIAGNOSIS
- Corneal edema. Sterile endophthalmitis.
wound, delayed presentation.
-Hypopyon. Noninfectious posterior uveitis: Sarcoidosis, pars
Endogenous: lmmunocomprom ised patients, -Anterior chamber fibrin.
indwelling catheters. intravenous drug use planitis.
- Infiltrated conjunctival bleb.
Infectious posterior uveitis: Toxoplasmosis,
GENERAL PREVENTION - Vitreitis.
Toxocara. syphilis.
Patient's own external bacterial flora from - Reduced view of retina.
- Other causes of postoperative inflammation:
conjunctiva and ocular adnexa are most likely Sympathetic ophthalmia. Phacoanaphylactic
culprits. uveitis.
Preoperative preparation with 5% povidone-iodine
solution reduces risk from own bacteria flora.
lntracameral injection of cefuroxime may reduce the
incidence of postcataract endophthalmitis.
270
ENDDPHTliALMITIS
SURGERY/OTHER PROCEDURES PROGNOSIS

. TREATMENT lnltlaI treatment wltl1 vitreous tap and Injection of This remains a serious owlar condition with a
lntrav1treal antibiotics Is recommended for postop significant possibility of vtslon loss and permanent
MEDICATION patients presenting with vision of hand-motions or blindness. However, wltl1 prompt diagnosis and
RrstLine better. treatment, vision can be saved with promising
lntravitreal antibiatit injections to empirically treat Initial pars plana vitrectomy with injection of long-ll!rm visual results.
Gram-positive and Gram-negative bacteria. intr.witreaI antibiotics is recommended for postop COMPLICA110NS
lntravitreal antifungal medications in patients with patients presenting with vision af light perception. Retinal detachment.
endogenous disease. IN-PATIENT CONSIDERATIONS Phthisis.
lntravitreal steroid injections ID reduce inflammatory Initial Stabilization
response. o Complete histDry and examination.
- Ceftazldlme 2.25 mg In 0.1 mL o Complete eye exam induding dilall!d
REFERENCES
- Vanmmycin 1.0 mg in 0.1 ml. ophthalmoscopy.
-Dexamethasone 0.4 mg in 0.1 ml. 1. Endophthalmitis Vitrectomy Study Group. Results of
Admission Criteria the Endophthalmitis Vitrectomy Study. A
Second Una While most commonly treall!d in the outpatient randomized trial of immediall! vitrectomy and of
Patients presenting with light perception vision setting. hospital admission should be mnsidered for intravenous antibiotics for the treatment of
I
should be treated Initially with vltrectomy, vitreous patients unable to care for their mndition as postoperative bacterial endophthalmitis. Arch
tap, and intravitreal antibiotics. outpatient or unable 10 comply with close daily Ophthalmo/ 1995; 113: 1479-1496.
Patients who do not respond adequately ID initial obseiVatlon. 2. Barry P, Seal DV, Gettinby G. ESCRS Study of
injection of intravitreal antibiotics with 48 h should Proph~axis of Pos!Dperative Endophthalmitis after
undergo either additional injection or vitrectomy. Discharge Criteria
o Hospital discharge should he considered onc:e
Cataract Surgery. Preliminary Report of Princ:ipal
Fortified topical antibiotics may be used in Results from a European Multicenter Study.
addition. dinic.alslllbilization has occurred.
- Improving vision. J Cataract Refract Surg 2006;32:407-410.
- Vanmmycin 50 mglmLevery hour. 3. Lemley CA, Han DP. Endophthalmitis: A review of
- Ceftazidime 100 mglml every hour. - Resolving hypopyon and vttreltls.
current evaluation and management Retina
ADDITlONAL TREATMENT 2007;27:662-680.
General Measul'fiS ONGOING CARE
Patients with endogenous endophthaImitis will need FOLLOW-UP RECOMMENDATIONS
complete evaluation by infectious disease speda list 10 . CODES
diagnose and treat underlying disease sou rc:e (e.g. Patient Nlrmltodng
Abscess, endocarditis, sepsis). Patients will require dose daily observation until ICD9
clinical stabilization has been achieved. o 360.01 Awl!! endophthalmitis
ISsues for Refel'l'81
All patients require evaluation and treatment by an PATIENT EDUCATION 360.19 Other endophthalmttls
ophthalmologist/retinal spedalist. Patients should be Instructed ID urgently contact their
Patients require dose daily re-evaluation until physician with any sign of disease progression (e.g.,
slllbilization is achieved. worsening redness, pain, or decline in vision).
AdditiotJal Th.,..p;es
Patient may require delayed vltrectomy to treat
nondearing vitreous debris.
271
ENOPHTHALMOS
Katherine Gold
~ BASICS
Orbital fat atrophy (such as that secondary to Skin changes--thinned if wasting syndrome,
radiation or wasting syndromes. among others). thickened in scirrhous carcinoma.
Silent sinus syndrome. Motility or sensation may be affected if the etiology
DESCRIPTION Orbital venous malformation (due to bone erosion is fracture.
Enophthalmos is a descriptive term and condition or fat atrophy). Check vision and for afferent papillary defect to
referring to the posterior recession of the Duane retraction syndrome. evaluate concomitant optic neuropathy.
normal-sized globe within the orbit.
Reported cases due to inflammatory conditions and DIAGNOSTIC TESTS & INTERPRETATION
Acquired or congenital. after CSF shunting procedure. Diagnostic Procedures/Other
PATHOPHYSIOLOGY COMMONLY ASSOCIATED CONDITIONS CT scan of orbits with coronal and axial cuts.
Congenital type is due to fetal/embryologic See Etiology section. If concern for inflammatory cause or malignancy,
maldevelopment. MRl with and without gadolinium and fat
~ DIAGNOSIS
Acquired. suppression.
- Mechanical pull of orbital contents by fibrous
May need orbitotomy for tissue biopsy.
contracture.
- Enlargement of orbit or lack of support by orbital HISTORY DIFFERENTIAL DIAGNOSIS
floor may cause enophthalmos with hypoglobus. Patient may report sinking in of eyeball, unilateral or Pseudo-enophthalmos.
bilateral, over time or may note a droopy lid. - Contralateral exophthalmos.
EnOLOGY May have old photographs for comparison. - Homer syndrome.
3 categories: Structural abnormality, fat atrophy, -Phthisis bulbi.
and traction. PHYSICAL EXAM
- Microphthalmos.
Orbital floor fracture. Superior sulcus deepened.
Postsurgical (sip decompression or mass resection). Narrowed palpebral fissure.
Scirrflous breast carcinoma metastatic to the orbit. Hertel exophthalmometry to establish baseline or
chart progression, may not be helpful in diagnosis if
bilateral.
272
ENOPHTliALMOS
. TREATMENT ONGOING CARE . CODES

ADDITIONAL TREATMENT FOLLOW-UP RECOMMENDATIONS ICD9
General Measures Patient Monitoring 376.50 Enophthalmos. unspedfied as to cause
Depending on etiology. Ophthalmologist. 376.51 Enophthalmas due to atrophy of orbital
- Fracture repair. Otolaryngologist fur sinus patholo!Ji. tissue
- Oncologic evaluation for treatment of metastatic PATIENT EDUCATION 376.52 Enophthalmas due to tlilu rna or surgery
carcinoma. If the cause is orbital fracture or un lenown, no
- OrbitaI soft tissue replacement with filler material, nose-blowing or sneezing with mouth closed.
sudJ as porous implant. hyaluronic add. CLINICAL PEARLS
polyaaylamide gel injection. COMPUCATIONS
- Sin us aeration with functional endoscopic sl nus If chron lc, may be difficult or lmpossible to correct Enophthalmos with lid retraction may be a sign of
surgery if suspect silent sin us ~rome. fully. silent sinus syndrome.
ADDITIONAL READING
Athanasiov PA. Plilbhakaran VC. Selva D.
Nontraumatic enophthalmos: A review. Acta
O{iltha/mo/2008;86(4):356-364.
Bernardini FP, Rose GE, CruzAA, Priolo E. Gross
enophthalmos after cerebrosplnaI flu ld shunting for
dJildhood hydrocephaIus: lhe silent brain
syndrome. Ophtha/ Plast Recofl5tr Surg 2009;
25(6):434-436.
I
Hamedani M, Pournaras JA. Goldblum D. Diagnosis
and management of enophthalmos. Surv
O{iltha/mo/2007;52(5):457-473.
273
ENTROPION

Cicatricial.
Lab
OCP Initial lab tests
DESCRIPTION Stevens-Johnson (erythema multiforme major). None.
Inward rotation ofthe eyelid margin, allowing the OCP-ANA.
Trachoma.
eyelashes and skin to abrade the globe.
Trauma. Follow-up It special considerations
Types:
Chemical burns. OCP-elevated soluble CD 8 glycoprotein, elevated
- Congenital.
Chronic topical medications. tumor necrosis factor.
- Involutional (most common)(I ){C].
-Spastic. Diagnostic Procedures/Other
- Cicatricial.
~ DIAGNOSIS Cicatricial-conjunctival biopsy.
EPIDEMIOLOGY
HISTORY Cicatricial-ANA
lnddence Foreign body sensation.
lnvol utional-increases with age. OCP-biopsy of conjunctiva for direct
Tearing. immunofluorescence studies or indirect
Spastic-temporary secondary to trauma, ocular
irritation, blepharospasm. Redness. immunofluorescence for presence of
- Cicatricial--ocular cicatricial pemphigoid antibodies-positive in >80%.
PHYSICAL EXAM
(OCP}-females > males Redness of conjunctiva. DIFFERENTIAL DIAGNOSIS
-Average age 60--70 years. Inverted eyelid margin. Epiblepharon.
Prevalence Thickened muscle band of orbicularis muscle. Trichiasis.
Cicatriciai--OCP-1 in 15,000--20,000. Lashes abrading globe. Distichiasis.
RISK FACTORS
Genetia
OCP-associated with HLA-0087*301.

Superficial punctuate keratopathy, corneal abrasion.
Corneal scarring, thinning, or ulceration,
vascularization in severe cases.
Symblepharon--cicatricial-linear scar/fold of
rJ TREATMENT
MEDICATION
PATHOPHYSIOLOGY palpebral conjunctiva to bulbar conjunctiva. Topical lubrication.
Increased orbicularis muscle tone and override shortening offornix. - Frequent artificial tears, ophthalmic lubricating
secondary to loss of adhesions to orbital septum. - Scarring of upper eyelid tarsal conjunctiva on ointment.
Thinningfdehiscence of lower lid retractors. eyelid eversion (trachoma).
Horizontal laxity. ADDITIONAL TREATMENT
Atrophied tarsal plates. General Measures
Taping of lower eyelid skin to cheek.
ETIOLOGY Issues for Refe"al
Dipivefrin, practolol, pilocarpine, timolol,
Decreased vision.
echothiophate, iodide, epinephrine eye drops.
Pain.
OCP-a systemic autoimmune pemphigoid disorder
that has ocular and nonocular manifestations.
- OCP thought to be a type 2 hypersensitivity
reaction, genetically predisposed.
274
ENTROPION
Additional Tllfllilplfls REFERENCES Shiu M, McNab A. Cicatricial entropion and

OCP---prednisone, dap50ne, me1hotrexate, trlchlas!s In an urban Austral!an population. atn Exp
cyclophosphamide, CeiiCept. doxycycline (2)[C]. 1. Heimmel M, Enll!r Y, Hoffman R. Entropion- Ophlha/mol 2005;33:582-585.
SURGERY/OTHER PROCEDURES ectropion: The influence of axial globe projection Wu AY, lhakker MM, WIadis EJ, et aI. Eyelash
SurgicaI treatment is almost always necessary, on IIIW!!r I!)'!!Iid malposition. Ofildla/ Plast Remnstr resection procedure for SI!Vt!t'e, recurrent, or
timing depends on corneaI health. Surg 2009;25:7-9. segmental cicatricial entropion. OphtflaJ Plast
2. Neff AG, Turner M, Mutaslm DF. Treatment Remnstr Surg 2010;26:112-116.
Suture repair---fllay be done bedside--t1ighest
recurrence rate. strategies In mucous membrane pemphigoid. Ther
Clin Risk Manag 2008;4:617-626. Q See Alsa {lapic, Allarithm, Electranic
0 utpatlem eyelid surgery, lncludlng ho~zontal
tightening, lower lid retractor tightening, orbicularis 3. Bieyen I, Dolman PJ. The Wies procedure for ~ Media El1111nl)
musde stabilization or marginal rotation (3)[C]. management of trid1iasis or cicatricial entropion af
either upper or lower eyelids2009;93: 1612-161 5. www.asoprs.org
Topic:
ONGOING CARE ADDITIONAL READING - Trichiasis
- Ocular cicatridal Pemphigoid
FOU.OW-UP RECOM MENDA110NS -Trachoma
Ophthalmologist I week to monitor cornea. Foster CS, Chang PY, Ahmed AR. Combination of
I
rituximab and intravenous immunoglobulin for Figure - Involutional entropion
PaRent Monitoring recalcitrant ocular cicatricial pemphigoid.
Warning signs: Pain, redness. tearing, photophobia. O{il thalmology 201 0; 117:861~69.
PA11ENT EDUCATION Hatton M, Raizman M, Foster CS. Exacerbation of . CODES
Ocular dcatridaI pemphigoid also be present in other undiagnosed ocular dcatridal pemphigoid after
mucous membranes. repair of Involutional entropion. OphriJal Plast ICD9
Reronstr SllfJ/ 2008; 24:165-166. 374.00 Entropion, unspeclfled
PROGNOSIS Scheepers MA. Singh R, Ng J, et al. A randomized
Most patiems require surgical repair.
374.01 Senne entropion
controlled trial comparing everting sutures and a 743.62 Congenital deformities of eyelids
Ocular cicatricial pemphigoid is d1aracterill!d by lateral tarsal strip for involutional entropion.
remissions and exacerbations and regardless of O{il thalmology 201 0; 117:352-355.
therapy can lead to loss of llision.
CLINICAL PEARLS
COMPLICATIONS
Entropion if untreated may lead to comeaI scarring,
ALERT infection and permanent loss of llision.
Corneal abrasion, ulcer, scarring, perforation, loss of Clcatrldal entropion may be assoc!ated with a
eye. severe autoimmune disorder.
Trachoma should be suspected in appropriate
patients with dcatricial entropion, especially af the
upper eyelid.
275
EPIPHORA
Scott M. Goldstein
~ BASICS Lower lid laxity, with or without frank ectropion, can

limit the normal tear pump mechanism.
PHYSICAL EXAM
Examine tear film for quality and quantity.
Acquired obstructions occur from progressive Lid anatomy and position, looking specifically for
DESCRIPTION narrowing anywhere along tile course of the drain. misdirected lashes, entropion, ectropion, lower lid
Epiphora. or tearing, represents an imbalance This usually results secondarily from infection, laxity. Also, they may have macerated skin in the
between tear production and tear drainage. The inflammation, or trauma. These patients typically lower lid from chronically being moist.
lacrimal gland and accessory tear glands produce tears have constant tearing. Certain chemotherapeutics Ocular surface exam looking for evidence of dry eye,
while the nasolacrimal drain carries the tears form the can also cause stenosis. foreign body, conjunctivitis, or keratitis.
ocular surface down into the nose. An overproduction Examine tear drainage both functionally and
from ocular irritation will cause tearing as will a ETIOLOGY
Again, a multitude of things can trigger tearing. Over physically with evaluation of the puncta, canaliculi,
blockage of the drainage system. and irrigation down the nasolacrimal duct. Palpation
production of tears occurs from irritation of the ocular
EPIDEMIOLOGY surface while a blockage of the drain leads to poor of the lacrimal sac is important if a distal obstruction
This can occur in patients of any age, but tllere is drainage. ofthe drain is suspected.
typically a bimodal distribution, in infancy and late DIAGNOSTIC TESTS & INTERPRETATION
adulthood. In infants, tearing most commonly COMMONLY ASSOCIATED CONDITIONS
Blepharitis, trichiasis, entropion, ectropion, dry eye, Dye disappearance test: Fluorescein is applied to the
represents a blocked tear duct, which occurs in conjunctival cui de sac, and the patient is observed
about 5% of all babies. Fortunately, 90% of these tear drain obstruction, ocular surface inflammation,
foreign body. for 5 min.
resolve by age 1. -In a negative test (nonmal), tile tear meniscus will
In the adult population, tearing is a much more
~ DIAGNOSIS
become relatively unstained as the tears naturally
common problem, often from a dry eye. This is more flow down through the drainage system. Dye can
common in women, especially postmenopause. sometimes be found in tile nose.
PATHOPHYSIOLOGY HISTORY - In a positive test (abnormal), the height of the
In normal patients. aqueous tears are produced by Infants most commonly present with constant stained tear meniscus will increase owing to tile
the lacrimal glands, which mix with sebaceous tearing in 1 or both eyes that starts shortly after obstructed lacrimal system.
secretions and mucus, to lubricate the eye. The force birth and continues constantly. They often awake -No change in the tear meniscus can be
of blinking, with a negative pressure within the tear from naps and bedtime, which crusting on the encountered with either an obstructed drain or a
drain on opening the lids, pulls the tears off the lashes. Finally, symptoms are often worse with nasal dry eye where there are not enough tears to wash
ocular surface down tile drain and into the nose. Any congestion. the dye down the drain.
imbalance along this pathway can result in tearing. In adults with dry eye, the symptoms have an Schirmer testing of tear production. This is best done
Congenital obstruction occurs from incomplete insidious onset with intermittent symptoms. The with topical anesthesia of the eye to measure basal
canalization of the nasolacrimal duct during tearing is typically worse with activities that require tear secretion alone. Less then 5 mm of wetting in 5
embryogenesis. more concentration, and thus less blinking, such as min is considered dry. 5-10 mm is borderline and
reading, watching TY, using a computer, and driving. greater then 10 mm is normal.
Adults with tearing most often have a dry eye or an
Cold, windy weather also exacerbates symptoms.
unstable tear film that leads to ocular irritation and
In the adult patient with a poor tear pump or
Lab
secondary reflexive tearing, which is intermittently Follow-up & special considerations
symptomatic. The imbalance can occur from blocked drain, the symptoms are more constant.
Sjiigren antibodies-if the patient is a young adult or
associated blepharitis with poor sebaceous Patients with acquired obstruction may have a is middle aged and has a dry mouth or other
secretions from the eyelid or decreased aqueous history of eye infection, dacryocystitis, or trauma to rheumatologic symptoms.
tear production. the drain system, but not always.
Ocular surface irritation from trichiasis, entropion, a
foreign body, keratitis, uveitis, or conjunctivitis can
all cause reflexive tearing acutely.
276
EPIPHORA
Dlagnostlc PtoCIHiuresiOther
Dacryocystogramcan be helpful In differentiating . TREATMENT ONGOING CARE
between poor tear pumping versus obstruction of
the tear dr.~in. MEDICATION FOLLOW-UP RECOMMENDATIONS
Lauimal sdntigraphy can also be performed on FirstUne Infa rrts can be followed ronservatively during the 1st
occasion to evaIuate drainage form the eye Into the Pediatric (chronir}-topical antibiotic ointmerrt year of life. If they fall to resolve by age 1 year,
nose. but is r.~rely done in dJ ildren. (erythromycin, bacitracin, polysporin) PRN if surgery should be scheduled at this time.
a scan be obtained if there is a concern of a significant discharge and crusting. Adults can be fallllWI!d as needed depending on the
nasolacrimal cyst or daayocele, or rumor In the Adult (d1ronic)-artificial tears drops. severity of their S)Tl1ptoms. Chronic dry eye and
lauimal sac. blepharitis patients can be seen with their routine
Acute pediatric and aduIt epiphor.~-treat
In teenagers and adults. in office irrigation of care. Lid malposition and nasolacrimaI obstruction
underlying issue sud1 as removal of foreign body, patients should be sd1eduled for surgery and seen
lacrimal system at the level of the canallculus can be topical antibiotics for bacterial conjunctivitis or
used diagnostically to evaluate for obstruction postoperatively to ensure resolution.
lcer.!titis, removal of irritating lashes with trichiasis.
within the drain s~m. DIET
Second Une
Pathological Findings Adult (chronic}-topical cydosporin eyedrops b.i.d., Fish oiI, flax seed, and other sources of omega-3 fatty
lntrapalpebral punctuate staining of the cornea and topical steroid eyedrops for short-term treatment of acids can improve tear film stability in adult patients
conjunctiva is seen with rnoderate-ID-5evere dry eye. chronic ocular inflammation. with dry eyes. E
o A distended lacrimaI sac, which extrudl!s puru lerrt PATIENT EDUCATION
ADDITIONAL mEATMENT
debris from the puncta with manual pressure. Is For pediatric patients, instruct parents on proper
indicative of a d1ronic dacryocystitis and blocked General Measures nasolacrimal massaging technique.
nasolauimal duct PunctaI occlusion if dry eye present
For adult patients with dlronic blepharitis. daily lid
Punctoplasty for punctual stenosis. scrub can be helpful uslnga warm wash doth.
o Children (chronic) congenital obstruction of
luUfls ftH R.efanal
PROGNOSIS
nasolauimal duct, congenital glaucoma. Acute dacryocystitis, espedally In Infants.
Pediatric cases--excellerrt.
epiblepharon. COMPLEMENTARY a ALTERNATIVE Adult cases-mixed depending on underlying
Children (acute) conjunctivitis foreign body, keratitis. THERAPIES etiology. Chronic dry eye and blepharitis patients
o Adu It (chronic) dry eye. acquired nasolacrimaI duct Pediatric tea~ng from congenital obstruction can be will tend to have intermittent chronic symptoms.
obstruction, ectropion, errtropion, trichiasis. old treated with daily massage aver the lacrimal sac. Pa11ents with nasolacrimal duct obstruction do well
facial palsy. hoping to help open the obstruction distally. after DCR surgery.
o Adu It (acute) conjunctivitis, keratitis, uveitis, foreign
body, craniaI neM! 7 palsy. Pediatric---1)1'obing and irrigation, P& I with
Geriatric Cansidirffons stenting of tear drain, balloon dacryoplasty,
REFERENCE
Tearing in this age group is usually irrterrnitterrt and dauyocystorhinostomy, 1. Katowitz JA, Goldstein, SM, Kherani F, Lowe J.
often represents a dry eye that becomes irritated and ron] unctlvodaayocystorhlnostomy. Laalmal drainage surgery. Dwne's
seconda~ly waters. Adult (blocked tear drainHunctoplasty, Pllr I with Ophthalmology. Tasman & Jaeger, eds,2005.
PfHIIatrlc Conslftr.ttlons stenting or balloon daayoplasty,
In this age group, the most common diagnoses are a dauyocystorhlnostomy,
rongenitally blocked tear duct and infection. Don't
conjunctivodaayocystorhinostomy.
Adult Oid malposition~ropion repair, ectropion
( t coDES
overlook infantile glauroma, but this is relatively
repair, horizontal lid tightening for pump failure. ICD9
uncommon by comparison.
375.20 Epiphora, unspedfled as to cause
375.21 Epiphora due to excess lacrimation
375.22 Epiphora due to insufficient drainage
277
EPIROINAL MEMBRANES
Magdalena F. Shuler
ERM forms due to an abnormal proliferation of glial
cells (primarily fibrous astrocytes but also Muller
Lab
Initial lab tests
DESCRIPTION cells, fibrocytes, myofibroblasts. macrophages, and No laboratory studies are needed to diagnose routine
Epiretinal membranes are also known as macular hyalocytes) on the surface ofthe retina. ERM.
pucker, cellophane maculopathy, and surface Glial cells usually access the retinal surface Follow-up ll special considerations
wrinkling retinopathy. following a posterior vitreous detachment (PVD) but Amsler grid testing is useful in determining the
It is a thin layer of tissue found on the surface of the can also migrate to the retina prior to PVD. symptomatic nature of the ERM.
retina. Traction may result from the cells assuming
It can cause distortion of the retina and lead to myofibroblastic properties exerting traction on the Imaging
decreased vision. retinal collagenous scaffold and ultimately leading Initial approach
- It is associated with abnormal vitreous separation to distortion and decreased vision. Optical coherence tomography (ocn can be useful
and sometimes presents with vitreomacular to show objective evidence of retinal surface disease
traction. ETIOLOGY and underlying macular edema.
Abnormal cellular proliferation on the surface ofthe OCT can also show abnormalities in retinal
Geriatric Considerations retina causes the visual appearance of an ERM. architecture such as edema and cystoid changes.
Epiretinal membranes (ERM) most commonly occur in -Primary idiopathic ERM occurs with no history of - ERM associated with significant CME may confer
the elderly population. trauma, surgery, inflammatory disease or other a poor visual prognosis.
ocular disease.
Pediatric Considerations Follow-up a special considerations
Very uncommon as a primary diagnosis. Most likely - Secondary ERM occurs due to ocular
Asymptomatic patients can be observed.
associated with other conditions that can cause inflammation, trauma, surgery, or retinovascular
disease. Counseling patients in the use of Amsler grid.
macular dragging and ERM formation due to glial Prompt re-evaluation for worsening of symptoms is
abnormalities/proliferation and traction. COMMONLY ASSOCIATED CONDITIONS warranted since surgical intervention prior to
Pregnancy Considerations Diabetes. induced abnormalities in retinal architecture confers
Intervention and full evaluation can usually be Retinal vascular diseases. a better ultimate visual prognosis.
postponed until after the birth of the infant. Ocular inflammation. Diagnostic Procedures/Other
Fluorescein angiography (FA) is useful to evaluate
EPIDEMIOLOGY
lnddence ~ DIAGNOSIS the retina for any underlying retinovascular diseases
and evaluating for macular leakage.
ERM is a common condition that is usually benign HISTORY - Significant vascular leakage or capillary
and causes no visual symptoms and does not Most are asymptomatic. nonperfusion helps in counseling patients about
require surgery. decreased visual prognosis following surgery.
Gradual worsening in vision.
Although bilateral in 20-30% of cases, it is often
Monocular distortion in linear objects. Pathological Findings
asymmetric.
Difficulty reading due to blurry vision. Extensive cystoid macular edema confers a poor
Prevalence Diplopia or central photopsias. visual prognosis after surgical intervention.
Most likely to be found in patients over 50 years old. Thin and irregular photoreceptor layers can be
ERMs occur in 2% of eyes in patients aged 50 years, PHYSICAL EXAM
Biom icroscopic examination reveals the abnormal visualized on spectral domain-OCT (SD-ocn.
and the prevalence increases to 20% of eyes at
75 years of age. appearance of the surface of the retina. DIFFERENTIAL DIAGNOSIS
Subtle ERM may only appear lik.e a glinting or Fibrotic fronds from proliferative diabetic
RISK FACTORS irregular light reflex of the fovea. retinopathy or ischemic vein occlusions.
Gender (women). A contracting ERM can produce retinal striae due to Incomplete partial posterior vitreous detachment
Elderly. traction on the internal limiting membrane (ILM). with adherent posterior hyaloid.
History of retinal laser, ocular surgery, or trauma. Traction results in visible tortuosity of the retinal
Diabetes. vessels.
Retinal vascular conditions. Occasionally retinal hemorrhages, cotton wool
History of vitreous hemorrhage. spots, and commonly macular edema are visible.
History of intraocular inflammation.
Genetia
No genetic predisposition.
278
EPIRETlNAL MEMBRANES
REFERENCES
1. MIVI TRUST Clinical Trial, Phase Ill study for focal
MEDICATION FOLLOW-UP RECOMMENDATIONS VMT using microplasmin for intravitreal
FirstUne Depending on underlying disease and appearance, injection-traction release without surgical
When associated with idiopathk edema, topical routl ne follow-up Is needed. treatment, lhrombogenics. 2010
steroids, topical NSAl Ds or subtenon injection of Patients without symptoms can be observed. 2. Shimada H, Nal(ashlzuka H, Hattori T, Morl R,
t~amclnolone can be considered. Initial timely follow-up is indicated but if no Mizutani Y, Yuzawa M. Double staining with
symptoms occu ~ follow-up can be extended. brilliant blue Gand double peeling for epiretinal
SecondUne membranes. O,dlthalmology 2009 M
Nat usually treated with any ather medications. ERM can commonly stay dormant for many years;
however acute PVD or surgery may indte 116(7):1370-6.
ADDITIONAL TREATMENT contraction and cause symptoms. 3. Kwok A. Lai lY, Yuen KS. Epiretinal memblllne
GfHHH'al Musu,.s l'iltient Monitoring surgery with or without internal limiting membrane
Presence of an ERM does not require surgical Amsler grid monitoring is essential. peeling. Clln Exp O,dlrha/mo/. 2005 Aug:33(4);
lnte!Vendon unless there are slg nlflcant symptoms or 379-35.
Distortions In vision should warrant re-evaluadon.
worsening retinal appearance on OCT. 4. Ramlcissoon YD, Aslam SA, Shah SP, Wong SC,
DIET Sulllvna PM. Risk of Iatrogenic PerlpheraI RetinaI
I
lss&lfi for Ret.al No spedfit diet is recommended. Breaks in 20-G Pars Plana Vrtrectomy.
Patients who are symptomatic should be referred to a
Ophrhalmo/ogy 201 0 May 13 [E-pub ahead of
vitreoreti nal surgeon for evaluation. PATlENT EDUCATION
Amsler grid testing is imperative to follow the prlntl
Underlying associated conditions such as age-related severity of distortion.
macular degeneration and diabetes should be fl.lly new symptom should warrant re-evaluation.
addressed prior to entertaining surgical inte!Vention.
. CODES
PROGNOSIS
COMPLEMENTARY & ALTERNATIVE Asymptomatic ERMthat are obsenred and do not ICD9
THERAPIES require Intervention have an excellent visual 362.56 Macular pucXering of retina
o When assodated with cystoid edema of the retina,
prognosis.
primary treatment to the unde~ylng edema can be Symptomatic ERM that require surgery usually
considered. results in visual improvement with 80-90% CLINICAL PEARLS
Improving 2 or more Snellen IInes.
o Current clinical trials are studying the effect of Most patients can regain half of the vision lost due Most ERMs are asymptomatic.
lntravltrealln[ectlon causing medleal vltreolysls to to the ERM distortion. Symptomatic ERMs should be evaluated by a
facilitate the release of focal vitreomacular traction. - ERM surgery usually results In greatly diminished vitreoretinal surgeon for possible surgical
(1)[A]. lntervendon.
metamorphopsia, however few eyes will regain
SURGERY/OTliER PROCEDURES 20120.
Vrtrectomy surgery with membrane peel is - Preoperadve vision Is a good Indicator of
recommended for patierrts who are symptomatic postoperative visual prognosis.
from visual dlstonlon or with vision worse than COMPLICATIONS
20/40. Cataract formadon: Most common.
o Some vitreoretinal surgeons advoca'le attempled PeripheraI retinal breaks:
removal of the ILM during ERM removal to decrease -1--6%.
the chance for recurrent ERM formation (2)[8), - A:. hlgh as 13.9% In recent study of 20 gauge
(])[B). vitrectomy (4)[C).
-Recent advances in minimally invasive vitrectomy Retinal detad1men!: 1-7%.
systems have led to quicker visual recovery and Recurrent ERM: D-5%.
higher patient satisfaction. Retinal phototoxidty.
Endophthalmitis is IC!re.
279
EPISCLERITIS
Vasudha A. Panday
~ BASICS ETIOLOGY Follow-up It special considerations

Idiopathic If severe, recurrent, or nodular episcleritis, check
Underlying systemic condition or infection serum uric acid, CBC with differential, ANA. RF. ESR,
DESCRIPTION CXR, VORL, and FTA-ABS.
An inflammatory condition, usually mild and COMMONLY ASSOCIATED CONDITIONS
Collagen vascular diseases Pathological Findings
self-limiting, although it can be recurrent.
Gout Histopathology shows nongranulomatous
- Usually affects females, usually seen in young
Herpes zoster or simplex inflammation with vascular dilatation and perivascular
adults, up to 30% may have underlying systemic
infiltrates of lymphocytes and plasma cells.
condition. Rosacea
-Simple: Intermittent episodes of inflammation that DIFFERENTIAL DIAGNOSIS
resolve in 2-3 weeks.
- Nodular: Prolonged attacks, more painful, usually ~ DIAGNOSIS Bacterial or viral conjunctivitis
Scleritis
solitary nodule. Associated systemic disease more HISTORY Pingueculitis
rJ
likely. Acute onset of redness. irritation. tearing; can be
EPIDEMIOLOGY diffuse or sectorial.
TREATMENT
Incidence PHYSICAL EXAM
Difficult to detenmine, most patients do not seek Sectorial or diffuse hyperemia, or localized injected MEDICATION
medical attention (1). nodule over bulbar conjunctiva seen at slit-lamp First Line
Prevalence examination Artificial tears, cool compresses at least 4 times a day.
Unknown. Area of injection or nodule can be freely moved over
Second Line
sclera using cotton tip applicator after topical
RISK FACTORS Short course oftopical antihistamine or NSAID 2-4
anesthesia.
Underlying systemic condition such as collagen times a day.
10% may have associated anterior uveitis.
vascular disease (rheumatoid arthritis, lupus, etc.) ADDITIONAL TREATMENT
(1) DIAGNOSTIC TESTS & INTERPRETATION
- Can be associated with infection such as Lyme General Measures
Lab Oral NSAI Dfor moderate to severe cases (e.g.,
disease, syphilis. Initial lab tests indomethacin 75-100 mg per day) (3)[C]
- Stress. honmonal changes may be associated. Topical2.5% phenylephrine will blanch inflamed - Short course of topical steroid 4 times a day
PATHOPHYSIOLOGY vessels in simple episcleritis (2)[C].
Additional systemic testing dependent on review of Geriatric Considerations
Not clearly understood, thought to be an inflammatory
systems. Side effects of long term topical steroid use include
response to an inciting event.
cataract fonmation and glaucoma.
280
EPISCLERITIS
Pediatric Considflntlotls REFERENCES

Side effects of long term topical steroid use include . CODES
cataract formation and glaucoma. 1. Akpek EK, Uy H. Christen W. et al. Severity of
eplsclerltls and systemic dlsease association. ICD9
~'regnancy Conslderatlans Ophthalmology 1999;1 06:729-731.
Topical N~Ds and steroids are class C and of 379.00 Scleritis, unspecified
2. Okhravi N, Odufuwa 8, Mc.Ciuskey P, et al. Scleritis. 379.09 Other scle~tls
unknown sarety in lactation. Surv Ophtha/mol 2005; 50:351-363.
Issues for Refetral 3. Jabs DA. Mudun A, Dunn JP, et al. Episderitis and
Associated comeal changes, resistant to treatment. scleritis: Clinical features and treatment results. Am CLINICAL PEARLS
recurrent J OtiJthalmol. 2000; 130:469-476.
Mild, self-limiting disease,. can be recurrent
$ ONGOING CARE Diffuse or sectorial injection
ADDITIONAL READING Nodular type more frequently associated with
FOU.OW-UP RECOM MENDA110NS Pearlstein ES. Episderitis.ln Krachmer JH, Mannis underlying systemit condition
Follow up for recurrent episodes. MJ, Holland EJ (eds.}, Comea: Fundamentills, 2.5% phen)1ephrlne w111 blanch the affected vessels
l'atlent Monltorlng Diagnosis, and Management, volt, 1337-1342. in simple episderitis
I
Usually Sl!lf-limiting condition. Majority can be treated with artificial tears and cool
compresses
PROGNOSIS
FaY!lfable to good.
281
ESOTROPIA: COMITANT
Barry N. Wasserman
David R. Lally
GENERAL PREVENTION
Early correction of significant hyperopia may reduce
risk of accommodative esotropia.
DESCRIPTION - Compliance with hyperopic correction for HISTORY
Form of strabismus in which an eye deviates inward accommodative esotropia my prevent secondary Esotropia may start intermittently and then become
toward the nose (formerly called "internal nonaccommodative esotropia from developing. constant.
strabismus"). - Correction of causes of low vision in one or both Frequently noticed by parents in pediatric cases.
- Comitant esotropia: Angle of strabismus is similar eyes. - Can present with diplopia in acute cases.
in all gaze positions. - History of low vision in one or both eyes.
- Can be intermittent or constant. PATHOPHYSIOLOGY - History of neurologic abnormalities or
-Types include accommodative or Most cases have no known pathophysiology developmental delay.
nonaccommodative, sensory, congenital/infantile attributed to ocular muscles. orbit or cranial - History of prematurity.
non accommodative(see chapter), consecutive nerves.
-Accommodative esotropia: Increased PHYSICAL EXAM
after surgery for exotropia, and cyclic Complete eye examination including cycloplegic
- Rarely associated with ocular myasthenia, or accommodative effort to overcome hyperopia
yields excessive convergence. refraction (may need atropine for 2-3 days before
thyroid eye disease. visit to ensure cycloplegia complete).
EPIDEMIOLOGY ETIOLOGY - Stereoacuity testing.
Accommodative esotropia: Etiology related to high - Strabismus evaluation including multiple gaze
Incidence hyperopia (3).
1 study found incidence of 111.0 (95% confidence positions and distance and near (ratio of
-Acute comitant esotropia: Possible gliomas and accommodative convergence to accommodation,
interval, 99.9-122.1) per 100,000 patients younger other tumors, Chiari type 1 malformations,
than 19 years of age. (1). ActA ratio).
hydrocephalus. thalamic disease, or seizures.
Prevalence - Sensory esotropia: Intraocular pathology including DIAGNOSTIC TESTS & INTERPRETATION
Approximately 2.0% of all children younger than cataract and retinoblastoma. Lab
6 years (1). In suspected ocular myasthenia, consider
COMMONLY ASSOCIATED CONDITIONS antiacetylcholine receptor antibody titers.
RISK FACTORS Amblyopia.
- In suspected thyroid eye disease, thyroid function
Poor vision in one or both eyes (sensory esotropia). - Refractive error (hyperopia).
studies.
Premature birth. - latent manifest latent or manifest (sensory
Cerebral palsy. esotropia) nystagmus. Imaging
Seizure disorders. - Other developmental delays or neurologic Only done in cases of suspected neurological
disorders, cerebral palsy. pathology, consider in cases of acute esotropia or
Developmental delay.
esotropia with other neurologic signs.
Hyperopia. - MRl of head and orbits.
Geneffa Diagnostic Procedures/Other
Likely multifactorial (environmental, polygenic). Consider tensilon test if myasthenia considered.
Accommodative esotropia: 23% have affected
1stdegree relative, 91% have any affected relative DIFFERENTIAL DIAGNOSIS
(2). Pseudoesotropia: Prominent epicanthal folds that
- 1-7% of orthotropic relatives of patients with yield the appearance of esotropia when no true
esotropia have monofixation syndrome. deviation is present, positive-angle kappa.
- If underlying cause of sensory esotropia then the - lncomitant esotropia (see chapter).
genetics of that primary disorder may apply - Myasthenia gravis.
although the incidence of esotropia may show -Thyroid eye disease.
variable expression.
282
ESOTROPIA: COMITANT
REFERENCES
1. Louwagie CR, Diehl NN, Greenberg AE, Mohney
MEDICATION FOLLOW-UP RECOMMENDATIONS BG. Is tile inddence of infantile esotropia
FirstUne Follow-up examinations based on findings at each dedi ning? Apopula1ionbased study from Olmsted
o Ora Isteroids or Mestinon specifically for
visit. County, Minnesota, 1965 to 1994. ArdJ
myasthenia. - For stable accommodative esotropia, follow up Ophtha/mol 2009; 127(2):200-203.
- Otherwise no medications Indicated. !!Very 3-4 months depending on the stability of 2. Birdl EE, Fawcett SL. Morale SE, Weakley DR Jr,
the esotropia control to check for ocular Wheaton DH. Risk factors for accommodative
SecondUne alignment and vision. Serial rHYaluation in cases esotropia among hypermetropic children. Invest
Phospholi ne iodide, an anticholinesterase miotic eye of variable esotropia. Ophtha/mol VIS Sd 2005;46(2):526-529.
drop, has been used to facilitate accommodat!on 3. Campos EC. Why do tile eyes cross? Areview and
without stimula1ing convergence. l'llfifmt Monitoring
Patient can note diplopia frequency. discussion of the nature and origin of essential
ADDITIONAL TREATMENT - Parents can monitor child's alignment. Infantile esotropia, mlaOSlrablsmus.
General MNsutes accommodative esotropia. and acute comitant
PATlENT EDUCATION esotropia. 1 AAPOS 2008;12(4):326-331.
o Glasses or conllld lenses for full cycloplegic
Important to differentiate issues of vision
refraction in cases of accommodative esotropia
I
(amblyopia) from alignment (strabismus).
<4 years old and as tolerated in older children (use - In adults with intermittent or variable stJabism us,
of atropine at start of glasses wear may help older Important to know time ana frequency. f ; coDES
cflild tolerate full hyperopic CDITection if unable to -Stress importance of glasses wear and in
relax la1ent hyperopia). accommodative esotropia tilat it is nomal" for ICP9
- Blfocal glasses maybe necessary In cases of high eye to be esotropic without glasses on. o 378.00 Esotropia, unspedfled
AOAratio. 378.05 Alternating esotropia
PROGNOSIS
Issues for Ret.al 378.20 IntEITIIittent heterotropia, unspedfled
o Consider neurosurgery or neurology consu ltatlon for
Accommodative esotropia: Approxima'lely 113
cases of suspected intracranial pathology or atways neea hyperopic correction (glasses or contact
lenses) for straight eyes. 113 "grow out" of need for
myasthenia, respectively.
glasses and maintain might eyes unmrTem:d. 1/3 CLINICAL PEARLS
- Consider orbital specialist for cases of thyroid eye
disease. need strabismus surgery for nonaccommodatiVe Must evaluate ocular alignment and motility in
esotropia. multiple gaze positions to assess comitance.
Additional Therap'-s - Guarded with acute comilllnt esotropia--depends o Full cycloplegic refraction essential in
Occlusive therapy wtth patches or atropine 1% drops on etiology. acmmmodative esotropia.
for amblyopia as indicated. - In cases of cerebral palsy or developmental delay
esotropia may increase CJVI!I' time. Always man itor for amblyopia.
THERAPIES COMPLICAnONS
Vision tllerapy is not indicated. Amblyopia.
SURGERY/OTHER PROCEDURES Surgery for esotropia can result in under or
o Strabismus surgery pelformed In cases of stable
overcorredions.
nonaccommodative esotropia after other treatments - Strabismus surgery also associated with rare
(e.g., glasses for hyperopia in accommodative complications lncludl ng Infection, hemorrhage,
esotropia) fail to obtain acceptable ocular loss of vision, slipped, or lost muscles.
alignment.
- Strabismus surgery can be performed on 1 eye
(recession/resection) or both eyes (usually bilateral
medial rectus recession).
o Only for cases of Intracranial pathology.
-Strabismus usually outpatient surgery.
283
ESOTROPIA: INCOMITANT
David R. Lally
Barry N. Wasserman
~ BASICS
Paresis of cranial nerve VI Lab
- Infiltration of medial recti: Thyroid eye disease, Initial lab tests
DESCRIPTION leukemia, pseudotumor Thyroid function tests if thyroid eye disease
Manifest convergent misalignment of the visual axes - Myasthenia gravis suspected
that varies quantitatively with different fields of -Muscle entrapment/injury/restriction: Orbital Acetylcholine receptor antibody test if myasthenia
gaze. trauma (medial orbital wall fracture, medial fat gravis suspected
Congenital or acquired and fibrous trauma, or lateral orbital hemorrhage),
infiltration, tumor, or eye muscle surgery
EPIDEMIOLOGY - Congenital/genetic: CCDD, hypoplastic lateral
Even if initial thyroid function or myasthenia gravis
lnddence tests are normal, consider repeating at later date if
recti, craniofacial disorders with
Varies depending on underlying cause, but overall absent/anomalous muscles clinical suspicion persists.
strabismus prevalence (including comitant deviations) Imaging
is 1-4%. COMMONLY ASSOCIATED CONDITIONS If acute-onset or neurological signs and symptoms
Brain injury or increased intracranial pressure
Prevalence are present, neuroimaging is necessary to rule out
-Thyroid eye disease
More common in adults intracranial pathology.
- Orbital trauma, infiltration, tumor, hemorrhage
- Horizontal rectus muscle surgery Consider orbital CT scan with suspected thyroid eye
RISK FACTORS
- Craniofacial disorders disease, or to rule out orbital mass, fracture,
Brain injury or increased intracranial pressure
infiltration, or inflammatory lesions.
- Thyroid eye disease
~ DIAGNOSIS
- Myasthenia gravis Consider CT scan to evaluate for orbital fracture
- Family history or genetic predisposition (isolated Diagnostic Procedures/Other
or syndromic) HISTORY Bscan orbital ultrasound may be useful.
- Orbital trauma (medial orbital wall fracture, medial Binocular, horizontal diplopia that is worse at Pathological Findings
fat and fibrous trauma), tumor or infiltration distance and in lateral gaze CCDDs: Absent cranial nerve nuclei, absent or
- Eye muscle surgery (excessively resected medial - Orbital trauma hypoplastic cranial nerve, fibrotidhypoplastic
rectus muscle or over recessed lateral rectus - Prior infections. head trauma, ocular surgeries extraocular muscle
muscle) - Family history of CC DD or craniofacial disorder - See thyroid eye disease and myasthenia gravis
- Craniofacial disorders - Hyperthyroidism or myasthenia gravis chapters
Genetics PHYSICAL EXAM DIFFERENTIAL DIAGNOSIS
See chapter on craniofacial disorders Full ocular examination with emphasis on Comitant esotropia (accommodative or
Congenital cranial dysinnervation disorders extraocular muscle functioning and ocular alignment non-accommodative)
(CCDD): in 9 positions of gaze (up, down, right, left, up right, Pseudo-abduction defect in infantile large angle
- See chapters on Duane syndrome. Brown up left. down right, and down left) as well as near esotropia with cross fixation
syndrome, Moebius syndrome - Measured esodeviation angle increases in lateral -Esophoria
-Also Congenital fibrosis of the extraocular muscles gaze - Negative angle kappa
(but usually exotropia): CFEOM 1-autosomal -Determination of fixation pattern and visual acuity -Hyperopic anisometropia with varying deviation as
dominant, K1 F21 A gene (12cen); CFEOM2- with best correction (cycloplegic refraction) fixation changes between eyes
autosomal recessive, ARIXJPHOX2 A (11q13); - Cranial nerve and sensory exam
CFEOM3- autosomal dominant, TUBB3 - Forced-duction testing if necessary to distinguish
(16q24.2-24.3) lateral rectus from medial rectus dysfunction and
-Also horizontal gaze palsy with progressive to distinguish paresis from restriction
scoliosis (HGPPS)- autosomal dominant, ROB03 - Proptosis and lid retraction may be seen with
(11q23-25) thyroid eye disease
GENERAL PREVENTION - Evaluate anomalous head positions, often
Genetic counseling manifest to maintain binocularity
Congenital bilateral sixth and seventh cranial nerve
PATHOPHYSIOLOGY palsies may indicate Moebius syndrome. Also assess
Unbalanced functioning of horizontal rectus muscles for other cranial nerve palsies and defects of the
whether due to structural muscle change, muscle neck, tongue, chest, and limbs
restriction, or muscle innervation dysfunction - Congenital abduction deficit with an aberrant
lateral rectus innervation and globe retraction ion
attempted adduction may indicate Duane
syndrome.
284
ESOTROPIA: INCOMrTANT
REFERENCE
1. Rowe FJ, Noonan CP. Botulinum toxin for the
MEDICATION FOLLOW-UP RECOMMENDATIONS treatment of strabismus. Cochrane Database Syst
Consider systemic steroid for orbital Inflammatory For children in amblyopic age range, frequent Rev 2009 ;(2):C 0006499.
disease or orular myasthenia. follow-ups recommended for dose monltorlng of
See also chapters on thyroid eye disease and visual acuity
myasthenIa gravis. - Primary care physidan for glucose and blood ADDITIONAL READING
Medical management of increased intracranial pressure control If underlylng vascular disorder
suspected Volk AE, Fricke J, Strobl J, et al. Analysis of the
pressurelc:erebraI edema. CHN1 gene in patients with various types of
- Neurosurgery if intracraniaI pathology is suspected
ADDITIONAL TREATMENT - Endocrinology if systemic thyroid disease is congenital ocular motility disorders. GOOe$ Arch
suspected 0/n Exp Ophthatmoi2D10;248(9): 1351-7.
General Measures
Amblyopia treatment as indicated Serial evaluations helpful in cases of variable
- Fresnel press-<Jn prisms ID correct primary gaze strabismus including thyroid 1!}'1! disease and ocular Q See Also {Topic, Alprllllm, Electronic
diplopia myasthenia ~ Medii Element)
- Complete rem ission usually occurs without -Stability of strabismus important before pursuing
I
intervention in sixth aanial nerve palsies ~ the surgical intervention Esotropia algorithm
palsy Is caused by a vascular mndltlon or Patifmt Monitoring
increased intraaaniaI pressure/c:erebral edema. Observation for acute neurological d1anges
ISsues for Referral - Observe for amblyopia in children tf; coDES
Neurosurgery mnsuIt if intracranial etiology is
PATIENT EDUCATION ICD9
detected
Strict glucose and blood pressure control if vascular 378.00 Esotropia, unspedfied
- Notify primary care physidan if thyroid 1!}'1! disease
causes of cranial nerve VI palsy are suspected 378.9 Unspedfted disorder of eye movements
suspected, consider endoolnology consultation.
-Consider neurology or neuro-<~ph1halmology if Parents of strabismic children should be educated
myasthenia gravis about the child"s risk of developing amblyopia and
- Consider genetic counsel ingfgenetidst where impaired binocular depth perception CLINICAL PEARLS
appropriate - Diplopia management strategies
Esotropia varies in size with different positions of
Additional Therap-s PROGNOSIS gaze
Smoking c:essation in thyroid eye disease Dependent upon type. Some types can be improved
Most common symptom is a binocular. horizontal
Beyond the amblyogenic age range. occlusion of one with strabismus surgery
diplopia that is worse with lateral gaze
eye may be used to eliminate symptomatic diplopia In CCDDs the prfm ary goal Is Improved head
position and orthophoria in primary gaze Differential dlagnosls Is restrictive versus paralytic
COMPLEMENTARY & ALTERNATIVE muscle disease
CraniaI VI palsies usually resolve spontaneously,
THERAPIES especially If congenital or due to Increased Common causes include cranial nerve VI palsy,
None provet1 or indicated intracranial pressure thyroid eye disease, or medial orbital trauma
- About on~third of palsies in older patients are A careful neurological exam is important to rule out
SURGERY/OT11ER PROCEDURES an intracranial lesion
Surgery for a cranial nerve palsy VI or thyroid eye associated with lntracranlalleslons
disease is indicated when S]IOntaneous resolution - See d1apters on thyroid eye disease and Treat the underlying condition. Patehing may be
myasthenia gravis necessary in children of amblyopic age range
does not occur after 6 months
- Botox InJections Into the medial rectus may be COMPLICATIONS
usefuI with traumatic cranial VI paresis {1) Amblyopia in children
- Muscle transposition is indicated with cranial VI - Anomalous head posture
!Dtal paralysis - Loss of binocularity
- Rectus muscle recession is the preferred surgery -Diplopia
for thyroid eye disease
-Orbital fracture may require liberation of
entrapped tissues and fracture repair
- Neurosurgical intervention for intracranial process
if indicated
285
ESOTROPIA: INFANnLE
Donelson Manley
Jonathan Salvin
~ BASICS ~ DIAGNOSIS . TREATMENT

DESCRIPTION HISTORY ADDITIONAL TREATMENT
A large angle (>35 prism diopters) esotropia Onset of inward crossing of the eyes seen at birth or
soon thereafter (under the age of 6 months) General Measures
developing within the first 6 months of life in an
otherwise normal infant with no significant refractive - Full extraocular movements Strabismus surgery (6)[AJ. Usually bimedial rectus
error and no limitation of ocular movements. - Usually early cross-fixation recession, although larger deviations may be
-Associated with lower incidence of amblyopia at PHYSICAL EXAM managed by additional lateral rectus recession
presentation. Large angle of esotropia, usually over 35 prism Amblyopia treatment as indicated
-Associated with secondary findings of inferior diopters.
oblique overaction, latent nystagmus, dissociated Additional Therapies
Constant and comitant angle of deviation Treat underlying amblyopia if present, generally prior
vertical deviation (DVD); often as later findings.
Refractive error usually <+2 diopters (normal for to surgery
EPIDEMIOLOGY this age group). Treat high hyperopia to rule out accommodative
Incidence Ophthalmic examination is otherwise normal. component
8% of all childhood esotropia Fixation may alternate. A lack of alternation may
- Esotropia (all) has an incidence of 111 per SURGERY/OTHER PROCEDURES
indicate amblyopia is present.
100,000 under the age of 19 years Alignment of the eyes should be achieved prior to
Fixation with the crossed eye may suggest a lateral
Prevalence rectus underaction. Fu II abduction can be 24 months of age to achieve binocularity. (3)[AJ,
2% of all children under the age of 6 years demonstrated by covering the fixating eye or Doll's (7)IAI
RISK FACTORS eye maneuver. (3)[AJ Some data suggests that early surgery is beneficial.
Family history of strabismus DIAGNOSTIC TESTS It INTERPRETATION NOTE: Spontaneous resolution without surgery may
rarely occur.
PATHOPHYSIOLOGY Imaging
Studies in primates reveal that early abnormal Neuroimaging may be indicated if esotropia
binocular sensory input results in the creation of associated with abnormal ductions/versions or
infantile esotropia and its related complications manifest nystagmus.
- Ear~ restoration of normal binocular function DIFFERENTIAL DIAGNOSIS
resulted in improved alignment and decreased Pseudoesotropia
incidence of late findings (2)1CJ - Duane syndrome Type 1 (4)[CJ
COMMONLY ASSOCIATED CONDITIONS - Moebius syndrome (5)[CJ
Amblyopia inferior oblique overaction - Congenital sixth nerve palsy
- Latent nystagmus - Orbital tumor
- Dissociated vertical deviations - Nystagmus blockage syndrome
- Cross fiXation and pseudoabduction deficit - Cianca syndrome
286
ESOTROPIA: INFANTILE
REFERENCES 6. lng M, Costl!nbader FD, Paries MM, et al. Early

ONGOING CARE surgery for congenital esotropia. Am J Ophthalmo/
1. Greenberg AE, Mohney BG, Diehl NN, et al. 1966;61 (6):1419-1427.
FOU.OW-UP RECOMMENDA110NS Incidence and types of dllldhood esotropia. A 7. Louwagie CR, Diehl N, Geenberg AE, et al.
Long term follow-up for rewrrent strabismus. population-based study. Ophtflalmo/ogy Long-term follow-up of congenital esotropia in a
inferior oblique overaction, and DVD all of which 2007;114:170-174. population-based cohort.J AAPOS 2009;13:8-12.
may require later surgery 2. WongAMF. Foeller P, Bradley D. etal. Early versus
- Second strabismus surgery needed in up to 50% delayed repair of infantile strabismus in macaque
of patients by the age of 10 years monkeys: I. ocular motor effects. JAAPOS . CODES
l'atlent Monitoring 2003;7:200.
Monitor for amblyopia and refractive errors 3. Pediatric Eye Disease Investigator Group. The ICD9
Secondary accommodative component may develop clinical spectrum of early-onset esotropia: 378.00 Esotropia, unspecified
and need to be treated with glasses Experience of the Congenital Esotropia
379.50 Nystagmus. unspecified
- Monitor for recurrent/consecutive strabismus Observational Study. Am J Ophtfla/mo/
2002;133(1):102-108. 379.56 Other forms of nystagmus
- Monitor for late compi ications
4. Alexandrakls G, Saunders RA. Duane retraction
PA11ENT EDUCATION syndrome. Ophthlmo/ Clin North Am 2001;
I
Long-term monitoring for recurrent strabismus or 14(3):407-417f
CLINICAL PEARLS
late associated findings 5. Miller MT, Striimland K. The Miibius sequence: A
- iJillycarbanate safety glasses required If dense Infantile esotropia Is an early-onset, large angle,
relook. JAAPOS 1999;3(4):199-208. usually altematlng esotropia.
amblyopia remains
The best outcomes are obtained with surgical
PROGNOSIS intervention before the age of 24 months.
Usually normal vision in boti1 eyes Late assodated findings including inferior obi ique
- iJilorly developed stereoacuity without early overaction, dissociated deviations, amblyopia, and
lntervemlon latent nystagmus.
COMPLICATIONS
Recurrent or consecutive strabismus may di!VI!lop
and require additional surgical treatment
Amblyopia
287
EXODEVIATIONS COMITANT
Donelson Manley
Bruce Schnall
Cover testing should be performed with glasses
DESCRIPTION HISTORY
being worn, if necessary. The distant and near
A horizontal divergence of the eyes that measures the A turning outward ofthe eyes, which is usually
deviations are measured with prisms.
same in left and right gaze as in the primary position noticed in early childhood. At first it may be
intermittent in the distance and then become more An assessment of the control of an intermittent
for a given testing distance. exotropia should be made. Good control-fusion is
constant wiltl time. It may be noticed more often
EPIDEMIOLOGY during illness or fatigue rapidly realigned after cover testing. Fair
Incidence control-fusion is regained after blinking or
Closing one eye outdoors in bright sunlight.
1 in 185 children by age 10 years. refixation. Poor control-eye remains exotropic for an
Horizontal diplopia. extended period oftime.
Prevalence Asltlenopia with reading is common with May require prolonged cover (20 minute patch test)
Approximately 1% of all children < 11 years old. convergence insufficiency. to elicit deviation.
RISK FACTORS PHYSICAL EXAM Sensory exotropia is measured by Krimsky with the
Maternal cigarette smok.ing during pregnancy and low Types: prism being placed over the fiXing eye.
birth weight. Exophoria: A tendency for the eyes to turn outward, - Fixation on a far distant target (e.g., out a
Geneffa which is controlled by fusion. This is usually not window) may be required to elicit maximum
Multifactorial inheritance noticed. Fusion and stereopsis are good. deviation.
Autosomal-dominant inheritance has been reported Intermittent exotropia: The deviation is latent at Pathological Findings
times and manifest at others. This type of deviation Normal extraocular muscle
PATHOPHYSIOLOGY may be noticed and may cause diplopia. The
Horizontal eye muscle imbalance that result5 in variability is related to a high ACtA ratio and
divergent horizontal strabismus. May progress from Rule out incomitant deviation (see chapter on
accommodative convergence, which modify the
exophoria to intermittent exotropia to constant lncomitant Exodeviation)
distant exodeviation and lessen it at near. Fusion
exotropia. -Myopia
and stereopsis are good when the eyes are aligned.
- Neurobiologic pathophysiology unknown
Constant exotropia: The eyes turn out constantly.
EnOLOGY Amblyopia is more common in this group. Fusion
Unknown and stereopsis are lacking.
COMMONLY ASSOCIATED CONDITIONS Divergence excess: The deviation is greater at
May be associated with oblique muscle dysfunction, distance.
A or V patters Basic: The measurements at distance and near are
Amblyopia is infrequent but may occur the same.
More common if refractive error is myopic Convergence insufficiency: The near deviation is
greater than distance.
Sensory exotropia: Exotropia develops as a result of
longstanding poor vision in one eye.
Consecutive exotropia: An exotropia that occurs
following treatment for esotropia. May be comitant
or incom itant.
288
EXDDEVIATlDNS CDMITANT
Mohney BG, Huffaker RIC. Common forms of

. TREATMENT ONGOING CARE childhood exotropia. OtiJfhalmo/ogy
2003;110(11):2093-2096.
ADDITIONAL TREATMENT FOLLOW-UP RECOMMENDATIONS Hunter DG, Ellis FJ. Prevalence of systemic and
General Measures Patient Monitoring orular disease in infantile exotropia: Comparison
Glasses should be prescribed when indicall!d, Intermittent exotropia may progress and patients with infantile esotropia. Ofiltha/mology t 999;
especial ti If myopic. Some children may be offered may need to be monitored at 3- 6 month inll!rva Is 106(10):t951-1956.
additional minus lens power to stlmulam to look for progression.
accommodative convergence. Can add up to 3.00 Following strabismus surgery, patients need to be
diopll!rs of minu.s to c:ydoplegic refraction monitored for recurrence of exotropia, consecutive . CODES
Amblyopia if present should be treall!d. esotropia. and amblyopia.
Part-time patching of preferred frte. - Amblyopia monitoring as indicatEd based on age, ICD!t
Convergence tralnl ng or onhopllcs are most depth of am blyopla (See Amblyopia chapter) 378. 10 Exotropia, unspedlied
effective in treating coiM!rgence insuffkiency PATIENT EDUCATION 378.20 IntermiiiEnt heterotropia, unspecified
Base-in prisms can help to maintain fusion and Film ilies should keep track of frequency of
prevent diplopia. Long-term use of base-in prism is deviation
CLINICAL PEARLS
I
li lceti to result in a reduction of fusion vergence - lmponance of patdling and glasses; wear as
amplitudes. indicated
Amblyopia is uncommon in intermiiiEnt exotropia.
Issues for Rm~l PROGNOSIS SeriaI follow-up is aitical as early intervention can
Deviations not controlled by glasses or patching or Untreated, up to 75% may progress over time. prevent the development of constant exotropia.
the recurrence of amblyopia despite medical Surgkal outcome is dependent upon length of Myopic correction may be a useful therapy prior to
treatment are indications for surgery follow-up. ReportEd success rate at 1 year is surgery.
- Reconstruction of a normal appearance is an approximately 80% and SD-70% at 5 years.
Indication for surgety, provided medical treatment
has fa lied and amblyopla treated. Surgery Is COMPUCATIONS
indicall!d when there is poor control of an Surgkal overcorrection of intErmittent exotropia can
iniErm ittent exotropia, progression toward result in diplopia and amblyopia
constant exotropia, diplopia, or asthenopia. - Most common reason for reoperation is residual
exotropia, although consecutive esotropia may
SURGERY/OTHER PROCEDURES alsoocwr
Surgery involves recession of one or boti11ateral
redus musdes. which may be combined, with
resection of one or both medial recti muscles. The ADDITIONAL READING
dedsion on which musdes to recess or resect is
based upon the size of the de1atlon and whether Pediatric Ophthalmology and Strabismus, Basic and
the exotropia Is greater at the distance or near. Clinical Science Course, Sedion 6, American
Academy of Ophthalmology, 20t D-20t 1.
Sensory exotropia is treated with recession of the
lateral rectus and resection of the medial rectus in Haggerty H, Richardson S, Hrisos S, et aI. The
the deviall!d eye. Newcastle Score; a new method of grading the
lm mediately following recession of both latera I recti severity of Intermittent exotropia. Br J OtiJfhalmol
2004;88(2):233-235.
for lnterm lttent exotropia, a consecutive esotropia Is
commonly seen which should resolve within
2 weeks.
289
EXODEVIATIONS INCOMITANT
Donelson Manley
J. Mark Engel
~ BASICS
COMMONLY ASSOCIATED CONDITIONS DIAGNOSTIC TESTS & INTERPRETATION
Facial asymmetry Lab
Birth trauma In general, no special laboratory testing is necessary,
DESCRIPTION Craniosynostoses unless a thyroid condition or myasthenia gravis is
Exotropia is incomitant if it measures differently in Spina bifida suspected (see those chapters).
different fields of gaze. This occurs most commonly
Aberrant regeneration of the third cranial nerve Imaging
in A and V pattern exotropia where the
measurements differ in upgaze and downgaze. If the Previous eye muscle surgery Initial approach
exotropia is greater in upgaze than downgaze, it is Hyperthyroidism In general. imaging is not necessary in the diagnosis
termed v pattern exotropia. If the exotropia is Brain tumor or aneurysm and treatment of most incomitant exotropia.
greater in downgaze than upgaze, it is termed A Increased intracranial pressure After previous complicated strabismus or retinal
pattern exotropia. Head trauma surgery, especially if a loss muscle is suspected, or to
lncomitant exotropia also occurs if the determine the presence of changes from thyroid
Orbital trauma, inflammation, hemorrhage, or tumor
measurements differ on lateral gaze. This is disease an MRl scan be performed.
~ DIAGNOSIS
commonly secondary to overaction of the oblique MRl scan should also be ordered if recent onset
muscles, and can also be associated with A and V cranial nerve palsy, head trauma, or other
pattern exotropias. neurologic signs present.
- Exotropia can differ in lateral gaze secondary to
HISTORY Consider CT scan if suspect orbital trauma.
restriction or paralysis of the extraocular muscles. Birth history, developmental and neurologic history There has been a suggestion that the pulley system
should be obtained. may be responsible for the A and V patterns in
EPIDEMIOLOGY A previous strabismus or other surgery, which exotropia, and high resolution MRI scanning may be
Incidence involves or could involve the extraocular muscles, of theoretical use to determine the anatomical
The incidence of incomitant exotropia increases with should be asked, including previous sinus surgery, abnormality causing the incomitance.
cranial nerve palsies, thyroid disorders, and after orbital decompression surgery, repair of orbital floor
previous strabismus procedures. Follow-up ll special considerations
fracture, and retinal detachment surgery.
Radiologists may be unfamiliar with some of the
Prevalence Possible anomalous head position (for example, a information wanted by the strabismologist in high
Approximately 25% of exotropia is incomitant. chindown position in A pattern exotropia, or face resolution MRI scans, and should be contacted directly
turn in cranial VI palsy).
RISK FACTORS before the study is performed.
Underlying disorders that affect the action of the PHYSICAL EXAM Diagnostic Procedures/Other
medial or lateral rectus muscle Alternate cover test should be performed with and Forced duction and forced generation testing can be
Prior strabismus surgery without glasses performed in the office with topical anesthesia if a
Measure with prisms while fixating on a distant paralytic or restricted muscle is suspected.
Genetia target preferably 20 feet away in primary position, in
Heredity, in general, plays a significant role in Binocular fields are considered by some to be
25 degrees of upgaze and 25-35 degrees of helpful in certain incomitant exotropias to determine
exodeviations, and is multifactorial. downgaze.
- Underlying conditions associated with incomitant the area of single binocular function.
Measurements in lateral gaze should also be made,
exotropia (e.g., craniosynostoses) may have a Pathological Findings
and primary and secondary deviations should be
genetic basis unrelated to the strabismus. Not applicable except as related to other disorders
noted if present.
GENERAL PREVENTION (e.g., see chapter on Thyroid Ophthalmolopathy)
Oblique overaction should be determined by
Meticulous strabismus surgical techniques, which evaluating the adducting eye in full adduction when DIFFERENTIAL DIAGNOSIS
avoid excessive scarring, and restriction of the the patient is in lateral gaze. This is usually obtained Infantile esotropia
extraocular muscles. by covering the abducting eye, and having the Duane syndrome
PATHOPHYSIOLOGY adducting eye follow a fixation target to full lateral Cranial Ill or VI Paralysis
gaze, and then uncovering the abducting eye to see Internuclear ophthalmoplegia
It is not certain whether there are anatomical
differences in patients with A or V pattern if the adducting eye is higher or lower than the Isolated medial rectus weakness related to
incomitant exotropia versus those with comitant abducting eye. myasthenia gravis or multiple sclerosis.
exotropia. Change in the vertical misalignment should be Consecutive exotropia following surgery for
Downslanting palpebral features have been noted on head tilt to the right and left. as well as all esotropia.
correlated with inferior oblique overaction, and 6 positions of gaze.
Certain craniofacial syndromes can cause the
upslanting palpebral fissures with superior oblique appearance of an incomitant exotropia.
overaction. Unilateral ptosis can also cause an appearance of an
ETIOLOGY incomitant strabismus.
A and V patterns may be associated with oblique A significant anisometropia can cause a
overaction. misdiagnosis of incomitance if the primary and
lncomitance can also be caused by restriction or secondary deviations are measured without
paresis of muscles, in particular, the horizontal recti correction.
290
EXODEYIATIONS INCOMrTAIT
Mohney BG, Huffaker RK. Common forms of

. TREATMENT ONGOING CARE childhood exotropia. Of/lthalmology 2003;
110(11 ):2093-2096.
MEDICATION FOLLOW-UP RECOMMENDATIONS Pediatric Oplhthalmalogy and Strabismus. Basic and
In general, except fur cenaln systemic syndromes such If the incomitance is not secondary to a cranial nerve Cli nicaI Science Course, Section 6, American
as thyroid ophthalmopathy and myasthenia gravis. palsy or lntraaanlalleslon, then usually the ch lid Is Academy of Ophthalmology, 2010-2011.
strabismus is not correctable with medications. followed every 6-12 months unless mncerns for Rosenbaum AI... Santiago AP. Clinical strabismus
amblyopia or diplopia warrant more frequent management. Principles and Surgic:a/ Techniques.
ADDITIONAL TREATMENT follow-up. WB Saunders Company: Philadelphia, 1999;
General Measures Patient MonltDrlng 219-229.
Refractive errors should be corrected. Check for changes in refractive error Stidwill D. Epidemiology of strabismus. Of/lthaJmic
Pflsms can be helpful in some cases of diplopia or
Monitor amblyopia treatment (see Amblyopia Physiol Opt 1997;17:536-539.
significant anomalous head position. chapter)
- Treat secondary amblyopia.
Issues for Refwral PATIENT EDUCATION
The patient should be educated to the cause and . CODES
Endocrinology if suspect thyroid eye disease
treatment options of t11e incomitant exotropia.
Neurology if suspect intracranial process
Genetics If suspect aanlofaclal disorder PROGNOSIS ICD9
378.10 Exotropia, unspecified
E
In general, except If t11e lncomltance of the exotropia
Additional Therapies is caused by cases of paralytic or restrictive muscle. t11e
378.13 MonD<:ular exotropia with v pattern
Should be directed at the underlying neurologic or patient should be told that their condition is 378.17 Ahemat!ng exotropia with vpattern
systemic abnormality If present
correctable. although several stmbismus procedures
COMPLEMENTARY & ALTERNATIVE may be necessary.
THERAPIES CLINICAL PEARLS
COMPLICATIONS
In general vision training and onhoptlc therapy Amblyopia lncomitant exotropia may be due to paresis or
have not been of proven vaIue in most furms of restriction of an eye muscle due to an intracranial or
strabismus. espeda lly when incomitant May require more than one strabismus surgery
Diplopia orbital process or due to systemic disease such as
SURGERY/OntER PROCEDURES thyroid eye disease or myasthenia gravis
Surgical intervention is indicatl!d if the incomitant Patients may present with amblyopia, diplopia, or an
exotropia is causing: ADDinONAL READING anomalous head position.
- I) Anomalous head position Prior strabismus surge~)' is a not uncommon cause of
- 2) Diplopia (not correctable witl1 prisms) Derner Jl. A 12-YI!ar prospective study of emaocular lncomltant exotropia.
- 3) To correct significant defurrnity that tl1e muscle imaging in complex strabismus.JAAPOS
strabismus is causing 2003;6:337-347.
- 4) To expand binocular fleld and visual function of Dunic lli, Stout AU, Drack AV, et al. Giant orbital
t11e adult or child cysts after strabismus surgery. Am J Ophtha/mo/
- 5) Recurrent amblyopia 2006;142:6911-699.
The surgical correction of lncomltant exotropia Is Haggerty H, Richardson s. Hrlsos S, et al. lhe
usually more complicated than correcting an Newcastle Score; a new method of grading the
exotropia which is comitant, and adjustable sutures severity of intermittent exotropia. BrJ Of/lthalma/
may be utilized to increase the success rate of the 2004;88(2):233-235.
procedure. Hunter DG, Ellis FJ. Prevalence of systemic and
Botulinum toxin injection has also been used to ocular disease in infantile exotropia: Comparison
correct incomitant exotropias, and can be indicated with infarrtile esotropia. Ophthalmology 1999;
in small angle incomitant exotropias. 106(10): 1951-1956.
291
EXPOSUREKERATDPATHY
Brad H. Feldman
~ BASICS Degenerative
- For example, Parkinson's. Alzheimer's. dementia
Slit-lamp examination may demonstrate:
- Corneal punctate epithelial erosions (most dense
inferiorly but may be diffuse if severe exposure or
Altered mental state
DESCRIPTION if markedly decreased blink frequency)
Corneal damage due to evaporative tear loss and ALERT - Decreased tear break up time
disrupted tear dynamics in ttle setting of improper lid Especially common under general anesthesia or in - Decreased tear production (in cases of facial
closure and movement. the intensive care unit if ttle eyelids are not properly paralysis)
closed andfor lubricated - Corneal ulceration, infection, thinning, scarring, or
EPIDEMIOLOGY
perforation if severe or prolonged
Incidence COMMONLY ASSOCIATED CONDITIONS
Uncommon DIAGNOSTIC TESTS lr INTERPRETATION
Bell's palsy
Prevalence Diagnostic Procedures/Other
Parkinson's disease
Low overall, but prevalence increases with age. Observe spontaneous blink rate and eyelid closure
Lower lid ectropion prior to placing anesthetic
GENERAL PREVENTION Corneal neurotrophism -Ask patient to close eyes gently and measure
Identification of at risk patients and prompt palpebral fissure
intervention to prevent serious corneal complications
PATHOPHYSIOLOGY
~ DIAGNOSIS -Ask patient to forcibly close eyes and measure
palpebral fissure
The lade of normal movement of the eyelids HISTORY Check corneal sensation prior to placing anesthetic
(especially the upper lid) leads to loss of the normal Typically can elicit a history of one of the etiologies to rule out neurotrophic disease
protective tear film over the surface of the cornea. listed above Stain corneal surface with fluorescein to help identify
Without normal eyelid movements the tear film is May el idt a history of lid opening at night (nocturnal punctate erosions and measure tear break up time
disrupted for several reasons: lagophthalmos) Consider measuring tear production with a
- Evaporation loss of tears exposed within the Typically subacute or chronic in presentation Schirmer's test
palpebral fissure Symptoms may include the following: Note: In office, testing of Bell's phenomenon may be
- Decreased spread of replenished tears across the - Foreign body sensation misleading as it does not often correlate well with
cornea - Photophobia corneal position during sleep or during involuntary
-Abnormal mixing of tear layer components -Tearing lid closure.
(mucin, lipid, and aqueous) - Decreased visual acuity
- Inadequate drainage of tears through the DIFFERENTIAL DIAGNOSIS
ALERT Dry eye syndrome
nasolacrimal system with loss of normal tear
recycling Be aware that patients with associated neurotrophic Sjogren's syndrome
defects may not complain of foreign body sensation, Neurotrophic keratopathy
EnOLOGY Medicamentosa
Neurogenic photophobia, or tearing but may have advanced
corneal damage. Blepharitis
- Facial nerve palsy (e.g., Bell's palsy)
Anatomic
- Cicatricial or restrictive diseases of ttle lids
- Prior blepharoplasty
- Skinfmucous membrane disorders (e.g.,
PHYSICAL EXAM
External examination may demonstrate:
- Failure of lids to close fully on blink or voluntary
rJ TREATMENT
MEDICATION
Stevens-Johnson Syndrome) closure (lagophthalmos)
First Line
- Ocular proptosis (e.g., Orbital tumors, Graves' - Decreased frequency of blink
Lubrication: Strategy and aggressiveness of
disease) -Widened palpebral fissure
lubrication varies with etiology (e.g., although
- Ectropion or lid position abnormalities
nocturnal lagophthalmos may only require ointment
- Brow ptosis (in cases of facial paralysis)
at bed time, a Bell's palsy patient with a wide
palpebral fissure will require frequent instillation) (1)
-Artificial tear supplements (short-lived effect, use
;::4 timeslday)
-Viscous gels (longer effect)
- Ointments (longest lasting effect)
Eyelid taping/placement of cellophane dressing over
eyelids during sleep, obtundation, or
unconsciousness (e.g., general anesthesia)
292
EXPOSURE KERATOPATHY
SecandUne o Orbital decompression or rem!Wa I of orbital lesion if ADDITIONAL READING

Surgical procedures to improve lid dosure may be exposure Is secondary to proptosis
considered when lubrication and lid taping are either o Partial (typically temporaO or full tarsorrhaphy may o Morris CL. Lagoph'thaImos Evaluation and
insuffident or intolerable, or if the condition becomes be needed if patient has progressive or chronic Treatment EyeNet. April 2008. Accessed at
a dTronic disability keratopathy not responsive to other measures http:I/Www.aao.orglpubllcatlonsleyenet/2008041
Botulinum uwn injection intx> Mulle(s musdes and pearls.dm
ADDITIONAL TREATMENT o
Feldman 8. Chapter 14: A patient diagnosed with
Issues for Referral levator to indUCI! ptosis (may take ::=4 days for full
effect and gives variable coverage) Bell's palsy 2 days ago presents with lagophthalmos
lid procedures sud! as gold weight placement are and moderate punctate keratopathy Inferlorly on the
typically performed by ocu loplastlcs-traIned cornea. How should I treat her? CudJSide
ophthalmologists. ONGOING CARE ConsuiUltion in Cornea and External Disease. Ed.
ALERT Frands Prlce Jr. Thorofare: Slack Publishers, 2010.
FOLLOW-UP RECOMMENDATlONS 5~3.
Patients with a combination of neurotrophism and Patients need 10 be followed closely if their disease is
exposure are at considerable risk for of acute onset or Is acutely exacemated as they are a1
slgh't-th reatenl ng complications and should be risk for sight-threatening complications.
managed in conjunction with a corneal spedalist. . CODES
PATlENT EDUCAllON
I
Additional Therapies Patients should be Informed that they must Sllek ICD9
o Moisture chambers/moisture goggles urgent care if they experience a sudden worsening of 370.34 Exposure keratoconjunctivitis
o Puncta! occlusion vision or an increase in pain, photophobia, or redness
Contact ll!nses as this may signify a serious complication.
o CLINICAL PEARLS
-Limited role for high-water content silicone PROGNOSIS
hydrogel lenses In patients with decreased bllnk Varies depending on etiology and severity o Untreated, exposure keratopathy can lead to
rate or mild lagophthalmos (use with caution due sight-threatening complications.
COMPLICATlONS
to risk of infection or disease exacerbation) o Lubrication is the mainstay of treatment for most
Corneal ulceration, infection, thinning, scarring, or
- Scleral lenses (Boston Ocular Surface Prosthesis) if perforation cases.
tolerated may help resolve keratopathy and o More severe cases often require prompt surgical
enhanCI! vision by providing a reservoir of intervention.
aqueous and a stable refractive surface (2) REFERENCES
SURGERY/OTHER PROCEDURES 1. Rahman I, Sadlq SA. Ophthalmic management of
o Lid abnormality repair (e.g., ectropion repair or lid fadal nerve palsy: A review. Surv OphthalmoJ
lightening procedure such as a lateral tarsal strip) 2007;52:121-144.
o Upper lid gold weight placement If due to 2. Rosenthal P, Croteau A Fluid-ventilated,
decreased orbicularis function (90% will improve) gas-permeable scleral contact lens is an effective
(J)[B) option for managing severe ocular surface disease
o Recession of upper eyelid retractors In cases of and many corneal disorders that would othe!Wise
eyeIid retraction require penetrating keratoplasty. Eye Contact lens
2005;31 :130-134.
o Lower eyelid elevation
3. Snyder MC, Johnson PJ, Moore GF, et al. Early
versus late gold weight Implantation for
rehabilitation of the paralyzed eyeIid.laryngoscope
2001;111:2109-2113.
293
EYEUD LACERADON
Rachel K. Sobel
Jacqueline Carrasco
~ BASICS
44% of eyelid trauma is associated with injury to Imaging
the globe. (1) Initial approach
DESCRIPTION 25% of patients with canalicular lid laceration have Small lid lacerations. as with a puncture site, may
Eyelid lacerations occur 3 ways: Sharp trauma (e.g., globe injury (2). indicate possible occult orbital foreign body. If history
pencil), blunt trauma (e.g., fist}, or diffuse trauma 65% of patients with canalicular Iid laceration have and examination are suspects, consider CT scan
(e.g., motor vehicle accident). Lacerations can affect associated injury including: (2) without contrast of orbits, thin cuts, axial and coronal,
3 regions of the eyelid. -Globe rupture to help rule out foreign body.
- Non-marginal eyelid - Facial fractures
- Marginal eyelid Diagnostic Procedures/Other
- Optic neuropathy To test whether or not the canalicular system has been
- Canalicular system, with or without avulsion of - Retinal detachment
medial canthal tendon injured, an ophthalmologist may perform a probing
- Head trauma and irrigation of the canalicular system.
EPIDEMIOLOGY
Prevalence
25% of eyelid trauma affects the margin (1)
~ DIAGNOSIS . TREATMENT
15% of eyelid trauma involves the canaliculus (1) HISTORY
Ophthalmology consult can be obtained once MEDICATION
RISK FACTORS life-threatening injuries are dealt with. First Line
For canalicular lacerations: Tetanus should be up to date.
Obtain details of how and when injury occurred.
-Average age is 24 years (2) Oral antibiotics for lid lacerations are anecdotally
Understanding the mechanism may point to further
- 80% are males (2) driven. If used, a first generation cephalosporin is
injuries such as an occult orbital foreign body.
GENERAL PREVENTION Prior visual status recommended. (3)[CJ
Work or recreational spectacles Tetanus status Lid lacerations due to animal or human bites should
The glasses or goggles should say ANSI Z87.1 be treated prophylactically with antibiotics. (4)[CJ
This means that they meet the safety standards of
PHYSICAL EXAM
Full ocular examination to rule out ruptured globe or ADDITIONAL TREATMENT
the American National Standards Institute.
suspected orbital or ocular foreign body. Issues for Refe"al
See OSHA (Occupational Safety and Health If lid margin or canalicular system is involved, refer
Measure length of laceration.
Administration) and ASTM (American Society for to ophthalmic surgeon. Keep laceration moist with
Testing and Material) for other work and Estimate depth, that is. full thickness versus partial
thickness. wet dressing if eye is not ruptured.
recreational eye protection standards.
Determine if laceration involves the margin. Often the lacerated area may appear to have
PATHOPHYSIOLOGY Look for prolapsed orbital fat which could indicate missing tissue because of skin and orbicularis
Sharp trauma directly tears the eyelid skin, margin, septum violation and levator muscle injury. muscle contraction. Only rarely is there tissue loss.
or canaliculus. Many sharp objects have been If there is tissue loss, more complicated repair is
If the laceration is medial to the puncta, canalicular
reported to be the cause, including finger, nail, indicated. These cases should be referred to an
involvement has most likely occurred.
scissor, door handle, tree branch, fishing pole, and oculoplastic specialist.
glass bottle.
Blunt and diffuse trauma tears the skin and margin
by traction. Sudden lateral displacement of the eyelid
ruptures the medial canthal tendon and canalicular
tissue. This can be the case with dog bites.
294
mUD LACERATION
SURGERY/OTHER PROCEDURES COMPUCATlONS

Repair can be done, depending upon the extent of Infection . CODES
laceration, In a small procedure room or In the Tearing
oper.ning room under monitored anesthesia care or Trichiasis ICD9
general anesthesia. Lagophthalmos and corneal exposure 870. 1 Laceration of eyelid, fu 11-thidcness. not
Surgery and treatment for OOJiar injury should Dislodged silicone stent Involving laalmal passages
precede eyelid repair. 870.2 Laceration of eyelid involving lacrimal
Notched eyelid margin
Repair should be done within 24-48 hours (5) Note: Patients may need further surgerles to repair passages
Non-marginal repair depending upon depth may symptDmatic eyelid deformities 870.8 Other spedfied open wounds of ocular
include a layered closure with 5-0 or 6-0 Vicryt and adnexa
skin dosure with 6-0 plain or fast gut.
Marginal repair should be referred ID an ophthalmic REFERENCES
surgeon for closure. CLINICAL PEARLS
Canalicular Involvement by an ophthalmic surgeon 1. Herzum H, Holle P, Hintschich C. Eyelid injuries:
or ocu loplastic specialist may utilize bi-canalicular EpidemiologicaI aspects. OphtfHJ/mologe Eyelid lacerations are often usodated with globe
inlllbation with Crawford rubes, pigtail probe, or 2001;98:1079-82. and other facial injuries. Treat eye injuries first. than
monacanalicular stents. such as a MiniMonoka 2. Naik M, Kelapure A. Rath S, et al. Management of the lacerations.
Suspect an orbital foreign body if a Iid laceration is
E
Illbe. canalicular lacerations. Am J Of/lthalmol
2008;145:377-380. smaII and the history is compelling.
IN-PATIENT CONSIDERATIONS 3. Reifler D. Management of canalicular laceration. SUrgical treatment varies depending upon whether
Admission Crlterla Surv Ophtha/mol 1991 ;36:113-132. or not the laceration Involves the margin or
Ruplllred Globe 4. Long J. Tann T. Adnexal Trauma. Ofilthalmal Clin canaliculus. Refer to an ophthalmologist or
North Am 2002;1 5(2):179- t 84. oculoplastic specialist for marginal or canalicular
5. Nerad J. Eyelid and orbital trauma. Ted!nlques In lacerations.
ONGOING CARE Of/ltha/mic Plastic Surgery. Saunders 2010; Prophylactic antibiotics are recommended for fadal
FOU.OW-UP RECOM MENDA110N5 355-368. lacerations. especially animal bites.
Small strip of antibiotic ointment should be placed
over sutured wound 2-3 times daily. Depending upon
the extent of wound, patient should be seen for ADDITIONAL READING
follow-up 3-7 days following repair. http://www.geteyesmart.orgleyesmartlinjuries./
PA11ENT EDUCATION eyewear.dm
Patient should be educated about the signs of
infection: Redness, swelling, and pain.
PROGNOSIS
Typically vey good. Once the wound is dosed,
satisfactory functiona I and cosmetic results can be
achieved.
295
EYEUD NEOPlASMS, BENIGN
Michael P. Rabinowitz
~ BASICS
Hyperclholesterolemia and familial lipid disorders COMMONLY ASSOCIATED CONDITIONS
predispose to xanthelasma/xanthoma. Ocular rosacea may be associated with chalazion
Genetics and hordeolum formation.
DESCRIPTION It depends on lesion involved and is beyond the scope Visceral hemangiomas may be associated with
The slcin of the eyelids includes the epidermis, of the overview provided in tflis chapter. multiple cutaneous capillary hemangiomas. Large
dermis, and deeper, adnexal tissue. hemangiomas may be associated with high-output
The epidermis is comprised of four layers of GENERAL PREVENTION cardiac failure or Kasabach-Merritt syndrome
keratinocytes, as well as Merkel cells, Langerhans Limitation of ultraviolet ray and sun exposure as well (thrombocytopenia, anemia, and low coagulant
cells, and melanocytes. as sunscreen use are perhaps the most important levels). Rarely, Maffucci syndrome, which has
The dermis is thicker than the epidermis, containing means of prophylaxis against the development of involvement of the feet and long bones, may be
vessels, nerves, and lymphatics. UV ray-associated eyelid neoplasms. associated.
The adnexa lies deep to the dermis and contains Lid hygiene may reduce occurrences of chalazia and Seborrheic keratoses may be associated with
holocrine, apocrine, sebaceous, eccrine, and various cysts. internal malignancies and may serve as cutaneous
meibomian glands. Improved lipid metabolism may prevent and/or treat markers thereof.
Abnormal growth of any of these structures may fall xanthoma formation. Dysplastic nevus syndrome, when multiple dysplastic
under the rubric of benign eyelid neoplasms. PATHOPHYSIOLOGY nevi occur, is associated with increased risk of
This clhapter will focus on the more common Chalazion: Retained sebaceous secretions cutaneous/conjunctival/uveal melanomas.
neoplasms and provide an overview therein. Epidermal inclusion cyst Epidermis implanted in the Corneal arcus in young age group, in tfle presence
dermis, usually from trauma or surgery of xanthelasma, may signify hypercholesterolemia.
EPIDEMIOLOGY
Capillary hemangioma: Hamartomatous Muir-Terre syndrome, Gorlin-Goltz syndrome, and
lnddence xeroderma pigmentosum are syndromes associated
Of all eyelid tumors, 54--84% are benign. proliferation of benign vascular endothelium, likely
of placental origin with systemic malignancies/malformations but are
Incidence of lesions varies widely by study. associated with malignant skin tumors and will not
Studies show the most common benign eyelid Squamous cell papi llama: Benign epithelial tumor
be further discussed.
tumors encountered by the comprehensive Seborrheic keratosis: Originating in keratinocytes
with acanthosis from basaloid cell proliferation.
ophthalmologist include chalazia and epidermal
inclusion cysts. Somatic fibroblast growth factor receptor 3
mutations and activating transmembrane tyrosine
~ DIAGNOSIS
Capillary hemangiomas are one of the most HISTORY
common lid tumors in infancy; incidence is kinase receptor mutations have been identified.
Melanocytic nevus: Clumps of neural-crest derived Close attention should be paid to the duration of the
approximately 1.0-2.6% of live births. lesion and to the pace of its growth, as
The following are data points from a recent review melanocytes tflat migrate to tfle dermis and
epidermis during development noninflammatory benign lesions are typically slow
of patients whose neoplasms were surgically growing or do not grow at all.
removed (1): Xanthoma/Xanthelasma: Concentration of lipocytes
Bleeding and necrosis are warning signs, as feeder
26% of benign lesions are squamous cell ETIOLOGY blood vessels and tumors outgrowing their blood
papillomas. Chalazion: A clhronic lipogranulomatous supply may signify malignancy.
21% of benign lesions are seborrheic keratosis. inflammatory lesion that is sterile. It may affect the Previous history of skin lesions, benign or malignant,
Other studies note their ubiquitous nature amongst meibomian glands, the glands of Zeis, or both. similar to or different from current pathology may
the elderly, citing that 80-100% of people older When superinfected, termed a hordeolum. provide insight into etiology of lesion or associations
than 50 have them. Epidermal inclusion cyst A superficial epidermal thereof.
Melanocytic nevi, hidrocystomas, and round keratin-filled lesion. History of ocular surgery or trauma should be noted.
xanthoma/xanthelasma are the next most common Capillary hemangioma: A pinlc to faint red to History of systemic malignancies may be related.
benign eyelid tumors. violaceous macular lesion composed of vascular Previous treatment of inflammatory conditions such
Premalignant lesions such as actinic keratosis, channels surrounded by a white halo. They typically as allergies or blepharitis. These may predispose to
Bowen disease, and keratoacanthomas are beyond undergo three stages: A proliferative phase, a stable eyelid cysts or chalazia. Unfortunately, chronic,
the scope of this chapter and will not be further period, and then involution. See the Treatment unilateral blepharitis may be a misdiagnosis for a
discussed. section. potentially malignant underlying etiology (e.g.,
Prevalence Squamous cell papi llama: Pedunculated sebaceous cell carcinoma).
Eyelid tumors are the most common neoplasm "finger-like" projections often compared to History of blistering sunburns, chronic UV exposure,
encountered in a general ophthalmology practice. fibroepithelial polyps found elsewhere on the body. and proximity to equator must be investigated.
Overall prevalence depends on tumor type. Seborrheic keratosis: Usually multiple gray-brown Previous history of radiation therapy should be taken
greasy, scaly, sharply demarcated papules/plaques into account.
RISK FACTORS that may appear anywhere on the body except the
Meibomian gland inspissation and ocular rosacea palms and soles, with a predilection for the face and PHYSICAL EXAM
may lead to clhalazia and hordeolum formation. upper torso/back. Thorough examination of the eyelids, induding
Female gender is a risk factor for capillary Melanocytic nevi: Typically a flat lesion, ranging lid-Hipping to examine tarsal conjunctiva, and
hemangiomas (3: 1female:male ratio). from smooth to verrucous, from well demarcated to adnexa for additional lesions, should be performed.
Eyelid trauma is a rislc factor for epidermoid cysts. slightly irregular, and from deeply pigmented to light Preauricular, submaxillary, cervical lymph nodes
Eyelid surgery and infection are risk factors for (amelanotic). must be palpated.
inflammatory lesions and cysts. Apocrine hidrocystoma: Involving the glands of Lesions themselves must be inspected for
HPV (human papilloma virus) is a rislc factor for Moll, cysts and nodules can also involve any gland ulcerations, necrosis, and neovascularization, all
squamous cell papillomas (particularly those in tfle (Zeis, sweat, meibomian) of the eyelids. Pathology potential warning signs.
oral mucosa). and histology depend on subtype. Skin changes overlying the tumor itself are
Sun exposure, equatorial origin, and advanced age Xanthoma/xanthelasma: Yellow subcutaneous important in narrowing the differential diagnosis.
predispose to lesions such as actinic keratosis and papules or plaques usually on the nasal upper Bleeding and discharge should be noted.
keratoacanthomas. Moreover, they are risk factors eyelids. May also occur at lateral canthi. Madarosis (loss of eyelashes), poliosis (whitening of
for progression to malignancy. eyelashes), and meibomian gland destruction should
be noted, both locally and remote from lid lesions.
296
EYELID NEOPLASMS, BENIGN
Thorough slit-lamp and fundus examination should SeCDIId line Issues for Referral
be performed In aII patients. Oftentimes complete excision follows fa lied Babies being treated for aggressive hemangiomas
Capillary hemangiomas must be frequently marsupialization (rare). should be done so with consult to pediatric
monitored for facial distonion, interference with Nonsurgical modalities induding injection of endocrinology, general pediatrics, and pediatric
physiologic functioning (respiration, swallowing. trichloroacetic add have been shown to be useful cardiology depending on treatment.
hearing), strabismus. amblyopia. and bleeding. for large or confluent apocrine hydrocystomas. Xanthoma/Xanthelasma patients, partlcula rly young
Capillary Hemangiomas: (<50 years). may warTant referral to intemists fur
DIAGNOSnC TESTS & INTERPRETATION
evaluation of hyperlipidemia.
Lab First line
ArP/ discharge may be sent for culture. 50% of lesions regress within 5 years, and 70% IN-PATIENT CONSIDERAnONS
Systemic labcratory tests are unnecessary unless within 7 years. They often continue to fade into the Initial Stabilization
malignancy or systemic involvement/associations are early teens. Oftentimes frequent observation is Neonates on propranolol for hemangiomas require
suspected. warranted as a resuh. vhal sign checks every 30 min for 4 h after beginning
Therapy is undertaken for aggressive lesions as the treatment. This should be done in collaboration
Imaging with pediatric cardiology (3).
Imaging for benign eyelid lesions is unnecessary desaibed above and is often individualized.
unless malignancy or systemlciorbltallnvolvement Is Oral steroids at 2-4 mg/kg per day may be indicated
suspected. fur rapidly growing or distorting lesions.
$ ONGOING CARE
I
Pathological Rndlngs SecondHne
Chalazion: Inflammatory reaction composed If the visual axis Is Involved, 1ntraleslona1 FOLLOW-UP RECOMMENDATIONS
primarily of epitheliaI, lymphocytic. and plasma cells triamcinolone or betamethasone acetate may be All treated lesions should be followed chronically for
with neutrophils and eosinophils on occasion. administered (side effects indude skin necrosis, reaurenc:e. Care must be taken to differentiate
adrenal suppression, growth retardation, and retinal recurrence from incomplete excision in surgicaI
Epidermal Inclusion cyst Cavity IIned by stratified cases, as recurTences may involve different,
squamous epithelium within the deeper dermis. altely occlusion).
Interferon alpha-2a may be injected in refractory potentially malignant pathology.
filled with keratin.
and particularly aggressive cases. Neonates with capillary hemangiomas should be
Capillary hemangioma: Nonencapsulated vascular
vascular~peclflc pu~ dye lasers can be effective examined twice weekly for 2 weeks after discharge,
channels of varying size in the dermis and and then weekly by their internist Ophthalmic
su bcutaneaustissue. in promoting involution of smaller lesions.
Recently, propranolol has been administered for evaIuatlon frequency Is subJective, but may be
Squamous cell papi llama: Vast:Uiar connective tissue monthly to monitor aggressively for amblyopia (3).
encased by acanthotic, hyperkeratotic, and progressive lesions. Dose Is usually 1mg/kg per day
in 3 equal doses for I week, doubled after 1week, Care of premalignant and malignant lesions is
para keratotic epithelium.
then tapered as seen frt. Typically proplllnolol is outside the scope of this chapter.
Seborrheic keratosis: At least 6 variants, induding
monitored in conjunction with child's pediatrician. DIET
acanthotic, reticulated, hyperkeratotic, clonal,
inflamed, and melanoacanthoma subtypes. See the 'Hemangioma In children' chapter. Low cholesterol diet encouraged in patients with
Histopathology depends on subtype. Xanthelasma/Xanthoma: xanthomaslxantlhelasmas
Melanocytlc nevi: May be junctional, compound, or First line PATIENT EDUCATlON
intradermal, with diagnosis being made by nest-like Laser ablation or surgical exdsion is required. Specific to associations and risk factors as above
cellular arTangement.
SecondHne PROGNOSIS
Xanthoma/xanthelasma: Dermal Iipid-laden Oral si mvartatin has recently been shown to resolve
hlstlocytes with or without giant cells. Good fur all benign lesions
xanthelasma in association with lowered systemic
Iipid levels (2).
Papillomas/SeborTheic Keratosis/Nevi: REFERENCES
TREATMENT
First line 1. Deprez M, Uffer S. ClinicopathologicaI features of
Organized by Lesion Etiology Treatment remains optional and cosmetic for all eyelid skin rumors. A retrospective srudy of 5504
Chalazia: dinically benign lesions. However, lesions can grow cases and review of the Iiterall.lre. Am 1
Rrstllne and cause lrrltatlon and/or bleed lng which Dermarop.thol 2009;3 1(3):256-262.
Warm compresses with light massage at least q.l.d. necessitate excision. 2. Shields CL, M~hayekhl A. Shields JA. et al.
for 10 min each time, with lid hygiene, are useful. For cosmetic removaI, laser ablation and cryotherapy Disappearance of eyelid xanthelasma following oral
Topical ophthalmic antibiotic is used fur draining are viable firrt-1 ine options. simvastatin (Zocor). Br 1 Of/Jthalmol 2005;89:
lesions or associated blepharitis. Surgical excision of lesion, with wide margins 639-640.
Second line entailing small portions of surrounding nomnal 3. Manunza F, Syed S, Laguda B, et al. Propranolol for
Incision and curettage are required. tissue, is required. complicated infantile haemangiomas: A case series
Second line of 30 infants. Br JDemlato/2010;I 62(2):466-468.
Steroid injection, dosage of which may depend on
size of lesion, may be used. Trlamdnolone can lead For any suspidous lesion, biopsy must be performed.
to depigmentation and skin atrophy. lnclslonal biopsies are common.
Oral doxycydine (100 mg PO b.i.d.) may be ExcisionaI biopsy with wide margins is preferable, . CODES
considered, particularly if associated with ooular and margins should be sent fur both permanent and
rosacea. frDZI!n .sections. ICD9
216.1 Benign neoplasm of eyelid, lndudlng canthus
Cysts: Mohs' micrographic surgery Is an alternative
intraoperative technique to ensure full resection in 228.09 Hemangioma of other sites
First line alternative to frozen .sections. 374. 51 Xanthelasma of eyelid
Marsupialization, whereby the top of the lesion is
amputated and contents are allowed to drain with Map biopsy may be performed if diffuse local
seamdary epithelialization, is required to be involvement is seen or suspected.
performed. Sentinel node biopsy may be indicated.
Complete exdsion of the entire lesion in an attempt ADDITIONAL TREATMENT
to keep capsule intact is required. Genet"al MeasuteS
Reserved for malignant lesions: lndude radiotherapy
and/or chemotherapy. These are outside the scope of
this chapter.
297
EYEUD NEOPlASMS, MAUGNANT
Amanda Matthews
~ BASICS
- Occur most frequently on lower eyelid followed by - Spread through lymphatic channels makes
medial canthus. upper eyelid, and lateral canthus. regional and systemic metastasis possible.
- Distant spread rarely occurs but does so by both - Local tumor recurrence after surgical excision is
DESCRIPTION hematogenous and lymphatic patilways. common and frequent surveillance is ne<:!SSBry.
The ocular cmexa contain virtually every tissue type - Classified intn 4 groups: -Medical and oncologic referrals are important
and therefore, many types of malignant tumors can - Localized (nodular, ncidulo-ulcerative, and cyst): Malgnant melanoma:
arise in this area. The classic, pearly BCC lesion that is Indurated - Neoplastic proliferation of melanocytes.
Early recognition and diagnosis of eyelid tumors are and firm with characteristic telangiectases over - Leading cause of death from primary skin tumors.
crucial to prevent local tissue destruction and the tumor margins. It may display central - Four types including superficial spreading, nodular,
distant spread. ulceration. Rarely, a cystic variant Is seen. lentigo maligna. and acrallentiginous melanoma.
Metastasis can occur with many eyelid lesions and - Diffuse (morpheaform, sclerosing): Flat. firm, - Superficial spreading melanoma of the eyelld is
can cause significant morbidity and mortality. white-pink to yellow subcutaneous lesion with elevated above the skin, has distinct borders, and
The most common malignant eyelid neoplasms indistinct clinical margins. Surface epidermis displays a wide variety of colors including black,
Include basal cell cardnoma (BCC), squamous cell remains intact. that is, no ulceration. Complete tan, rose, or gray.
carcinoma (SCC), sebaceous gland carcinoma, and swgical excision difficult and may result in large - Nodular melanoma has spherical ncidularlty and
malignant melanoma. eyelid defect. has a uniform blue-black color.
Other extremely rare mariQnant tumors that can - Superfldal, multifocal: Miore irregular surface than - Lentigo mar~gna melanoma arises from a
affect the eyelids are cutaneous T-cell and MALT nodular BCC and diffuse multicentric involvement longstanding tan-colored macule and
lymphoma (see Ocular Adnexal Lymphoma chapter of epidermis and dermis. demonstrates surface elevation and nodule
for further infollTiation), Merkel cell carcinoma, and - Flbroepitheliomatous basal cell carcinoma of formation.
Kaposi sarcoma. Pinkus: Usually seen on the trunk. - There are 2 methods Ill express depth of Invasion
Squamous call carcinoma: and these are based on the anatomic level (Clark
EPIDEMIOLOGY - Arises from prickle-squamous cell layer of level) or the depth of invasion in millimeters
lnddence epidermis (Breslow depth). The Breslow depth is the most
Varies by geographic region with degree of solar - Spreads by extension into dermis important of the two classifications.
exposure. -Multiple precursor lesions including actinic - Stages I and II have no metastatic disease, stage
Approximatelly 5-1 0% of all skin cancers occur in keratosis, Bowen's disease, and radiation Ill has regional lymph node involvement, and
the eyelid. dermatoses. stage IV has distant metastasis.
Basal cell carcinoma: Approximately 14.35 cases per - Occur most frequently on lower eyelid. followed by -Initial evaluation should include tilorough history
100,000 population (SD-90% of all malignant medial canthus. upper eyelid, and lateral canthus. and physical, with special attention on the CNS.
eyelid tumors). -Variable presentation and can be mistaken for bone, and Gl systems.
Squamous cell carcinoma: Between 0.09 and 2.42 basal cell carcinoma. - Medical and oncologic referrals are important.
cases per 100,000 population (5-1 0% of all - Most commonly appear as painless nodular or
malignant eyelid tumors). plaque-like lesions.
The basal cell nevus syndrome (GorlinGoltz
Non-basal cell and nonsquamous cell tumors: - Metastasis to regional lymph nodes but distant
syndrome) Is autosomal dominant with high
Between 1.6 and 2.1 cases per 100,000 population spread uncommon.
penetrance.
(indudes sebaceous gland carcinoma. 1-5% of all - Perineural infiltration of sec of the eyelids allows
-Mutation in PTCH gene on chromosome 9.
malignant eyerid tumors, malignant melanoma, 1% spread into the orbit. intracranial cavity, and
-Multiple basal cell carcinomas, which can be seen
or less, and the very rare lymphoma, Merkel cell periorbital structures.
early in childhood.
carcinoma and Kaposi sarcoma). Sebaceous gland carcinoma: - Associated with odontogenic cysts of tile jaw,
- Arises from the meibom ian glands of the upper skeletal anomalies. and keratinizing pits on the
RISK FACTORS eyelld or tile glands of Zeis.
Chronic sun exposure (the single most Important risk palms and soles.
- Can occur many decades after radiation Ill the
factor), Caucasian race or fair sl:ln color, older age, Bazex syndrome is an x-linked dominant disorder.
eyellds and face. -Multiple basal cell carcinomas that develop an the
previous skin malignancy, immune dysfunction, focal - Often presents as small nodules and confused as
dermatologic trauma (especially thermal burns). face in childhood and adolescence.
recurrent chalazia or intractable -Typical "ice-pick marks" on the extremities caused
history of ionizing radiation, and exposure to trivalent blepharoconjunctivitis (known as the
inorganic arsenic. by atrophic dellTiai changes.
masquerader").
-There are two types of SGC based on the pattern The linear unilateral basal cell nevus syndrome
GENERAL PREVENTION - Unilateral distribution of basal cell carcinomas,
Limit sun exposure, especially in childhood and of infiltration and include the nodular and
non-nodular type. multiple comedones, epidermoid cysts, and areas
adolescence. of striaellke atrophy.
- The nodular type is minimally invasive and usually
PATHOPHYSIOLOGY located on the tarsus or eyelid margin. -Associations with scoliosis and atherosclerotic
Chronic UV light exposure leads to defects in DNA -The non-nodular type is moderately-to-highly heart disease.
repair that allows for malignant transformation and infiltrative and epitilelial changes are more Xeroderma plgmentosum is an autnsomal recessive
unchecked growth of tumor cells. common. disease causing a defect in DNA repair.
- There are also two types of intraepithelial spread -Multiple squamous cell carcinomas, basal cell
ETIOLOGY
and include pagetDid spread and replacement of carcinomas, and melanomas develop on
Basal cell carcinoma:
the full thickness surface epitilelium, resembling sun-exposed areas and arise in the first 2 decades
- Neoplastic transfollTiation of basal cells of
squamous cell carcinoma in situ. of life.
epidermis
- Abnormal basal cells proliferate and invade the - Loss of eyelashes in the region of the tumor may Albinism is an inherited disorder of melanin
dermis as nodules or strands help to differentiate SGC from more benign synthesis.
lesions. - Lack of melanin leads to damage by solar radiation
- No premalignant lesion
- Tumor enlargement is usually slow and rarely - SGC can be multicentric and has true metastatic and an Increased risk for all slcin malignancies.
metastasizes potential. -One-third of all basal cell carcinomas in blaclc
- Potential to be locally invasive, especially with - Direct orbital extension into the orbit, paranasal Africans occur in patients with albinism.
medial canthal involvement. sinuses, and intracranial cavity is possible.
298
mUD NEOPLASMS, MALIGNANT
~ DIAGNOSIS
ADDITlONAL READING
. TREATMENT Bartley GB. Garrity JA. waller RR. et aI. Orbital
Basal cell carcinoma and squamous cell card noma: exentellllion at the Mayo Clinic: 1967-1 986.
Arrt patient presenting with an asymptomatic or o
Ophthalmology 1989;96:468-473.
irriming eye! id lesion should have a prompt biopsy - Excision with Mohs micrographic surgety (1 )[A] OR
performed by an experienced surgeon (1)[A]. Cook BE, Bartley CiB. Treatment options and future
- frozen-sedian or permanent-section control (t)]A] prospedS for the management of eyelid
- Indsional biopsy when malignancy suspected. - These treatments yield the highest cure rate and malignancies. Ophthalmology 2001 ;1 08:
except with malignant melanoma where excisianal lowest recurrence. 2088-2098.
biopsy with wide surgical margins is preferred. - ElCise entire tumor with dear margins Curtis ME, Waltz K. Major review: Basal cell
- Margins of potential sebaceous gland carcinoma - If contraindications to surgery. cryotherapy may be cardnorna of the eyelid and periocular skin. Surv of
and malignant melanoma are sent for permanent Ophthalmology 1993;38:169-192.
section.
used in a double freeze-thaw method to eradicate
the tumor cells (1,2,3)[AJ Esmaeli B. Sentinel lymph node mapping for
- Sentinel node biopsy may be necessary depending patients with cutaneous and canjundival rna lignant
an depth of invasion by eyelid melanoma. o Sebaceous gland carcinoma:
melanoma ]review]. Ophthal Plast Reronstr Surg
Hlstopathologlc confirmation. - Mohs' micrographic surgery (1 )[A] 2000;16: 17D-172.
- Excision with frozen-section control combined
HISTORY
with conjunctival map biopsies (1)]A]
Gennari R, Bartolomei M, Teston A. Sentinel node E
The following apply for all malignant eyelid locallzatlon In primary melanoma: Preoperative
tumors: - Some recommend supplemental cryotherapy at dynamic lymphoscintigraphy, intraoperative gamma
-Duration the time of excision and tDpicaI chemotherapy probe, and vital dye guidance. Surgety2000;127:
(mitomycin C) if there is arrt question of residual 19-25.
- Slow versus rapid growth
involvement (1 ,6,7)[8]
- Previous malignant skin lesion
- If contraindication to surgery, eledron beam Hendley Rl, Rieser JC, Cavanagh HD, et al. Primary
- History of radiation therapy radiation therapy for melbornlan gland carcinoma
radiotherapy Is an alternative treatment (1A,S)[B]
-History of arsenic exposure (case repon). Am J Oph rha/mology 1979;87:
-History of inflammatory or allergic condition - If Olb!ta1Invasion, exenteration Is the preferred 206-209.
treatment (1,6,8)[A]
PHYSICAL EXAM Ide CH, Ridings GR, Yamashita T, Buesseler JA.
o Malignant melanoma: Radiotherapy of a recurrent adenocarcinoma of the
Skin ulceration and signs of inftammation - Recnmmendations for treatment are varied and
Distortion/disruption of normal eyelid anatomy melbomlan gland. Ardl Ophthalmology
often confliding 1968;79:54G-S44.
Abnormal mlor or IEX!ure
-Treatment often depends on Breslow thickness: Lens MBand Dawes M. Interferon alpha therapy in
Persistent crusting and/or bleeding < 1.0 mm- excision with 1.0-on margins (1 )]A], malignant melanoma: A systematic review of
FocaI loss of eyelashes (madarosis) 1.D-2.0 mm- excision with 3.0-cm margins (1 )]A] randomized controlled trials. 1 Clin Oncd
FoeaI wh ltenlng of eyelashes (poliosis) - Stage Ill or IV disease: A sentinel node biopsy and 2002;20: , 818-,82 5.
Presence of abnormaI vessels lymph node mapping should be performed Lisman RD, Jakoblec FA. Small P. Sebaceous
- Sentinel or feeder vessels (1,9,10)]A] cardnorna of the eyelids. The role of adjunctive
-Telangiectatic vessels at tumor margins - Stage II-IV disease: Adml nlstr.~tlon af adjuvant cryotherapy in the management of mnjundival
0rbltaI signs (prop1osls, diplopia, external interferon should be considered (1,11)]8] pagetoid spread. Of}lthalmology 1989;96:
aphtha 1moplegla) are extremely concern! ng for ADDmONAL TREATMENT 1021-1026.
orbital invasion. Shields JA. Demirci H, Marr BP, et al. Sebaceous
General MHSUI'ftS
DIAGNOSnC TESTS & INTERPRETAnON Suntan lotion and other protective measures against cardnorna of the eyelids; Personal exopertence with
Pathological Findings UV su nllght exposure. 60 cases. O(ilthalmology 2004; 111 :2151-2157.
Basal cell ca reinoma: Proliferation of cells with oval Tuppurainen K. Cryotherapy for eyelid and periocular
nuclei and scant cytOplasm. These cells form large basal cell cardnomas: Outcome in 166 cases over
nests and have the charaderistic .basaloid" $ ONGOING CARE an 8 year period. Graef~ Arm Clin Exp
appearance. Cells at the periphery of each nest are Ophthalmology 1995;223:205-208.
usually arranged in a radial, or pa lisading. o Ophthalmologist follow-up .
pattern. - Initially every 1-2 weeks to ensure proper heahng
Squamous cell cardnoma: lntraepldermal squamous of surgicaI site . CODES
cell carcinoma is characterized by full-thickness - Reeva 1uatlon every 6-12 months thereafter, more
at)l:lia of the epidermis. When the atypical cells frequent visits if an aggressive tumor type was ICD9
invade through the basement memb1<1ne, it identified such as sebaceous gland cardnoma or 172. 1 MaIignant melanoma of skin of eyelid,
bemmes invasive SCC. Cells are typically potjgonal malignant melanoma. lndudlng canthus
with abundant cytoplasm and dyskeratotic cells with o Family physician or dermatologist for thorough,
173. 1 Other mallgnant neoplasm of skin of eyelid,
keratin pearls are present full-body, skin exami na1ions. induding canthus
Sebaceous gland ca reinoma: Numerous sebaceous Oncology follow-up is important in patients with
elements with mitotic ligures. Large ana plastic cells sebaceous gland card noma and malignant
are seen with prominent nuclei in foamy or frothy melanoma.
cytoplasm. This foamy appearance is a result of the o Refer to radiation oncologist if there is need for
presence of lipid vacuoles. Highly charade~stlc Is radiotherapy.
spread of the tumor in the form of infiltrating
lobules, nests and cords. as well as superficially. PATIENT EDUCAnON
-Stain positive for lipid with oil red 0 stain. www.skincancer.org
Malignant melanoma: The most corn mon type, COMPUCAnONS
superfidal spreading melanoma has a radia I growth o Local tissue destruction with loss of normal anatomy
phase charade~zed by Increased numbers of and fundlon.
intraepithelial melanocytes that are large and
Orbital, periorbital, Intracranlal, and systemic spread
at)l:licaI and arranged haphazardly at the can oCOJr with any malignant eyelid neoplasm.
dermoepiderm al j undion. These cells show upward
o Loss of vision.
migration (pagetoid spread). Dermal invasion
o Potentially death if there is intracranial spread or
confers metastatic potential.
me1astasis.
DIFFERENnAL DIAGNOSIS
See Benign EyeIid Neoplasms.
299
FABRY'S DISEASE
Ethan H. Tittler
Hong Wei
George L. Spaeth
~ BASICS
High levels of GL-3 are found throughout the body Skin
and in the fluids of patients with Fabry disease, most - Angiokeratomas between the umbilicus and knees
notably in the lysosomes of endothelial, perithelial, (66% of males, 36% of females). Occasionally
DESCRIPTION and smooth-muscle cells of blood vessels. seen intraperiorally and periorally
Also known as Anderson-Fabry disease and - Hypo/anhydrosis (almost constant finding)
a-galactosidase A deficiency, Fabry disease is a rare, ETIOLOGY
Mutation in gene coding for a-GAL causes enzyme Cardiac
X-linked recessive lysosomal storage disorder that, -Arrhythmias, murmurs, chest heave, laterally
when left untreated, is potentially fatal. Defect in deficiency and build-up of toxic substrate.
displaced PMI
the GLA gene coding for the enzyme COMMONLY ASSOCIATED CONDITIONS Abdomen
a-galactosidase A (a-GAL}, which leads to an Dermatologic -Tenderness, hyperactive bowel sounds
accumulation of glycosphingolipids, in particular - Clusters of angiokeratomas (non-blanching,
globotriaosylceramide (GL-3), throughout the body. individual, punctuate, dark red to blue-black DIAGNOSTIC TESTS & INTERPRETATION
Elevated GL-3 causes cellular dysfunction, most telangiectasias) most dense between the Lab
notably in the vasculature, with resulting damage to umbilicus and knees Initial lab tests
the renal, cardiac, and vascular systems. Life - Hypo/anhydrosis a-GAL enzyme activity assay of both plasma and
expectancy shortened by 20 years in males and Neurologic leub)cytes
15 years in females, often from renal failure, - Acroparesthesias (periodic crises of severe pain in Heterozygous females may have normal enzyme
cardiomyopathy, and early stroke. the extremities) appear early activity, so molecular genetic testing may be
Systemic manifestations include angiokeratomas - Early TIA or stroke necessary
characteristically found between the umbilicus and - Hearing loss (CN VIII) During childhood and adolescence, urinalysis
knees, intermittent pain crises, and Ocular
hypohidrosis/anhydrosis.
Imaging
- Cornea verticillata (whorl-like inferior corneal Initial approadl
Ocular manifestations appear early and include subepithelial deposits)-an early finding No special imaging necessary for diagnosis.
whorl-like corneal deposits (cornea verticillata), - Distinctive spoke-like posterior cataracts;
distinctive spoke-like posterior cataracts, and Follow-up ll special considerations
wedge-shaped anterior cataracts
vascular tortuosity of the bulbar conjunctiva and -Vascular tortuosity and aneurismal dilation of the Additional confirmation can be made by identifying
retina. Rarely affects vision. bulbar conjunctiva and retina mutation in a-GAL gene with molecular genetic
testing.
EPIDEMIOLOGY Cardiac
- Mitral insufficiency, left ventricular hypertrophy CBC, CMP for systemic manifestations.
lnddence - Dysrhythmias Secondary complications of Fabry disease may
Estimated 1:40,000 to 1:170,000, though newborn require imaging
- Cardiomyopathy
screening has demonstrated 1:3,100 males. -Cardiac: ECG, chest X-ray, echo
Renal
Prevalence - Mild proteinuria appears in childhood/ -Vascular: Duplex Doppler, angiogram
1:80,000 to 117,000. adolescence -Neurologic: CT. MRI
- Skin: electron microscopy of Fabry angiokeratomas
RISK FACTORS - Progressive renal insufficiency leading to
demonstrate characteristic electron-dense,
Family history, male sex, though heterozygous females end-stage renal disease
lamellar (zebra-like) inclusions within endothelial
can express the Fabry phenotype at various levels of and other cell types
severity due to random variations in X-chromosome
inactivation. ~ DIAGNOSIS Diagnostic Procedures/Other
Decreased a-GAL enzyme activity is diagnostic of
Geneffa HISTORY Fabry disease, and confirmation can be made with
X-linked recessive, mutation of GLA gene at Xq22.1 Classically, symptom onset in childhood or molecular genetic testing.
locus. adolescence (acroparesthesias, angiokeratomas,
Any patient with a constellation of intermittent
- Over 150 mutations at this locus have been linked ocular findings, hypohidrosis).
acroparesthesias, anhydrosis, angiokeratomas, left
to a deficiency in the enzyme a-galactosidase A. Gradually progressive renal insufficiency in the 3rd ventricular hypertrophy, corneal and/or lenticular
to 5th decade and eventually death due to renal opacities, and renal insufficiency of unknown
GENERAL PREVENTION
disease, heart failure, or cerebrovascular accident etiology should be worked up for Fabry disease.
Genetic counseling and prenatal chorionic villus
(55% of males, 45% of females).
sampling (1 o-12 weeks) or amniocentesis Pathological Findings
- Later-onset patients' initial presentation may be
(15-18 weeks). Early on, urinalysis demonstrates protein, casts, red
for renal, cardiovascular, and/or cerebrovascular
Early treatment may prevent secondary symptoms. cells, and characteristic Maltese crosses" in
complications of Fabry disease. sediment, progressing to end-stage renal disease
PHYSICAL EXAM with electrolyte disturbances and anemia.
PATHOPHYSIOLOGY Ocular findings are visible early (as early as
The glycosphingolipid metabolic pathway is Cardiac dysrhythmias including ST segment
age 1)
responsible for break.ing down glycosphingolipid changes, T-wave inversion, and intermittent
- Cornea verticillata (95% of males, BB% of
components of the plasma membrane of cells. In supraventricular tachycardia
females)
this pathway, a-galactosidase A (a-GAL) converts - Spokelike posterior cataracts (70% of males, Left ventricular hypertrophy
globotriaosylceramide (GL-3) to lactosyl ceramide. 35% offemales) Multifocal cerebral small vessel involvement with
Mutation of GAL gene causes a-GAL deficiency, -Vascular tortuosity and aneurismal dilation of the thromboses, aneurisms, intracranial bleeds and
which causes an accumulation of the upstream bulbar conjunctiva and retina (77% of males, areas of ischemia
substrate GL-3 within lysosomes. 19% offemales)
300
FABRY'S DISEASE
DIFFERENTlAL DIAGNOSIS lssllfls for llflfwral REFERENCES

Anglokeratomas of Fabry Fabry disease Is a rare, complex, and se~ous dlsease
- Can be confused with peted11ae. pyogenic that requires consultation w1th and coordination 1. Eng CM. Ioannou YA. Desnick RJ. Alpha-
granulomas, eruptive angiomas, or amongst many specialists: Galactosidase a defldency: Fabry disease. The
angiokeratomas of Fordyce spot5 - Pediatridans Metabolic and Molecular Bases of Inherited
- Other metabolic s~dromes that cause - Neph rologists Disease. In: Scriver C, Beaudet A. Sly W, et al, eds.
angiokeratomas indude fucosidosis. - Neurolog isis New York: McGraw Hill, 2001:3733-3774.
aspartylglycosamInurla, galactoslalldosls, - Cardiologists 2. Pinto LLC, Vieira TA. Giugliani R, Schwartz IVD.
Schindler/Kanzaki disease, mannosidosis - Dermamlogists Expression of the disease on female carriers
Cornea vertid llata - Ophthalmologists X-llnked lysosomal disorders: Ab~ef review.
- Long-temn therapy with amiodarone. - Genetidsts OrphanetJ Rare Dis 2010;5(1):14.
aminoquinolines, alllvaquone, clofazimine, gold, - Psyd1iatrists and psychologists 3. Samiy N. OaJiar features of fabry disease:
ibuprofen, indomethacin, mepacrine, - Social workers Diagnosis of a treatable Iife-lt1reatening disorder.
monobenzone, naproxen, pemexlll ne maleate. Additional Therapia Surv Ofilthalmo/ 2008;53(4):416-423.
phenothiazines, suramin, tamoxifen, tilorone Mental health consultations for psychosocial impact
hydrochloride of disease on patient
- Environmental exposure ID silica dust o Nutrition and I!XI!rcise to decrease risk of
ADDI110NAL READING
- Multiple myeloma cardiovascular disease o Lanralde Margarita M, Luna Paula c, "Chapter 136.
Pain a1ses Fabry Disease (Chapter). In: Wolff K. Goldsmith LA.
-Rheumatic fever, neurosis, erythromelalgia, COMPLEMENTARY A ALTERNATIVE
THERAPIES Katz 51, Gilchrest B, Paller AS, L.effell DJ, eds.
meuma!Did arthritis, juvenile arthritis. SLE, Fitzpatrick's Derma!Diogy in Genl!fal Medicine, 7e:
Antioxidants and omega-31atty adds may have
"growing pains. Raynaud syndrome, multiple
sclerosis benefit by red udng vasaJ lar damage. http:llwMY.acc:essmedicine.cornlcontent.aspx?aiD
=2976828.
f
SURGERY/OTHER PROCEDURES Mehta A. Hughes DA. Fabry Disease .
. TREATMENT Allograft kidney transplant can be curative of renal GeneRew'ews[lntemet]. In: Pagon RA, Bird TC,
dysfunction (engrafted lddney has normal enzyme Dolan CR.. Stephens K. eds.Seattle (WA): University
MEDICATION activity) of Wllshington, Seattle; 1993-2002 Aug 05, Feb
Fii'St Line o For angiokera!Dmas: 2008 update.
Enzyme replacement therapy (ER'O as early as - Laser therapy
possible in all males and in females carriers with
significant disease:
- Aga lsidase beta (Fabrazyrne) 1 mglkg body weight
infused every 2 weeks as an IV infusion. The initial FOLLOW-UP RECOMMENDATIONS ICD9
IV infusion rate should be no more than Annual (or more frequent) renal, cardiology, and 272.7 Lipidoses
0.25 mglmln (15 mglh). hearing evaluations. 371. 10 Corneal deposit, unspedfied
For acroparesthesias: o 743.31 Congenital capsular and subcapsular
- Diphenylhydantoin l'atlent Monitoring
o Patient should be followed by specialists in the cataract
- Carbamazepine
- Gabapentin organ systems most affected by Fabry disease.
- Cardiology: ECG, echo, BNP
For rena I disease: - Neurology: Diphenylhydantnin levels CLINICAL PEARLS
-ACE Inhibitor (benazep~l 40 mg per day) and ARB (if presoibed)
Oosartan 100 mg PO per day) -Nephrology: CMP. urinalysis, creatinine The presentation of angiokeratornas in a bathing
Antiplatelet agents (dopidogrel 75 mg PO per day) suit pattern (umbilicus ID knees) with cornea
Siblings and female offspring of affected patients vertidllata (whorl-lik:e inferior corneal deposits) is
may be recommended for prophylaxis against stroke
should be tested for Fabry disease. practically pathognomonic.
and central retinal artery occlusion.
Upld- (sl mvastatln 40 PO per day) and blood DIET
pressure (diltiazem 360 mg PO per day) lowering Low-fat. Iow saIt diet may reduce or delay
agents may be recommended for those with cardiac cardiovascular and renal dysfunction.
ischemia PATIENT EDUCATION
Second Une Ufelong care from va~ous spedallsts will be required
Thiazide diuretic (hydrochlorothiazide 25-50 mg PO to maintain health beyond middle age.
per day) PROGNOSIS
Beta-blader (atenolol 100 mg PO per day) o Without treatment for end-stage renal disease,
Hydralazine mean age of death is 41 years.
ADDITlONAL TREATMENT With enzyme replacement therapy, patients can
General Meuures expect stabilization of their renal function, Improved
Chronic hemodialysis. if needed. cardiac function, and decreases in neuropathy and
gastrointestinal symptnms.
301
FAMIUAL EXUDAnVE VITREORmNOPATHY
Jared D. Peterson
Allen Chiang
Arunan Sivalingam
~ BASICS
-The EVR3 locus localizes to chromosome Most infants present with failure to fiX/follow,
11 p12-p13; the specific gene at this locus has not pendular nystagmus. heterotropia, or rarely,
yet been identified. leukocoria from large retinal detachment (RD) or
DESCRIPTION -The EVR4 locus localizes to a region within the significant lipid exudation.
Familial exudative vitreoretinopathy (FEVR) is a rare, original EVR1 locus. near FZD4; the EVR4 gene is Most children/adults present with a decrease in
inherited disorder in which one of several known LRP5. vision caused by RD, retinal folds, or macular
gene mutations results in abnormal development of -A recent study suggests at least a 4th locus for ectopia.
the retinal vasculature, characterized by a peripheral autosomal dominant FEVR, indicating FEVR to be Some may present with pseudoexotropia (positive
avascular zone. even more heterogeneous than formerly realized angle kappa due to ectopic macula).
Secondary neovascularization (NV) may develop in (2).
response to retinal ischemia and may progress to Proteins encoded by the 3 known FEVR genes are PHYSICAL EXAM
fibrosis, retinal folds, macular ectopia. and part of a signaling complex in the Norrin,Bcatenin Visual acuity ranges from 20/20 to <20/200.
ultimately, tractional retinal detachment (TRD). pathway, which is pivotal to retinal vasogenesis. Complete dilated fundus examination including
Cataract, neovascular glaucoma, and band - Recently. Junge et al. (3) identified TSPAN 12, scleral depression
keratopathy may occur in advanced stages. (another component of this signaling complex) Avascular zone in the peripheral retina is present in
Phenotypic variability exists within families and even and Poulter et al. (4) showed TSPAN12 mutations all patients and may be the lone manifestation. It is
between eyes of the same patient; most are lead to autosomal dominant FEVR. usually confined to the temporal periphery, but may
asymptomatic. while some suffer partial or even extend 360
GENERAL PREVENTION - Visualization of avascular zone enhanced with
complete loss of vision.
None. green filter during ophthalmoscopy
The clinical course can vary as well, from a
nonprogressive or only slowly progressive course PATHOPHYSIOLOGY Other funduscopic findings may include the
over a lifetime to a rapidly progressive course with Gene mutations lead to defective protein products following:
total retinal detachment at a young age. within a signaling complex that activates the - Brushlike appearance of retinal vessels near the
Originally thought to stabilize in early adult life, Norrin,Bcatenin pathway, which is vital to proper avascular zone
FEVR is now recognized to have the potential of development of retinal vasculature. - Extensive branching of retinal vasculature
progressing even after years of stability. Defects in this pathway lead to incomplete retinal - Dilated vessels with temporally bent course
FEVR is usually bilateral, but may be markedly vascularization, leaving a peripheral avascular zone, - Neovascularization
asymmetric. which is thought to be the primary event in all - Vitreous hemorrhage
affected patients. - Subretinal exudation
EPIDEMIOLOGY Complications secondary to the resulting peripheral - Fibrotic reaction manifest as vitreoretinal opacities
lnddence retinal ischemia may ultimately result in variable - Retinal traction leading to retinal folds. macular
Unknown (many are asymptomatic). degrees of vision loss. ectopia (optic disc and retina dragged temporally),
20% of FEVR cases experience partial or total orTRD
Prevalence
Unknown, yet likely underestimated given that blindness (2). DIAGNOSTIC TESTS & INTERPRETATION
molecular testing has suggested up to 90% of ETIOLOGY Imaging
affected individuals may be asymptomatic (1 ). Fluorescein angiography (FA) with peripheral
One of several gene mutations results in incomplete
RISK FACTORS development of the retinal vasculature. Subsequently, sweeps, or ultrawide field FA
Family history of FEVR. peripheral ischemia leads to multiple complications Key angiographic features include the following
and visual morbidity. (5)18]:
Geneffa
Autosomal dominance is the most common mode of COMMONLY ASSOCIATED CONDITIONS Abrupt capillary closure (avascular zone)
inheritance, with autosomal recessive and X-linked Patients with FEVR due to mutations in LRP5 have Dragging of perimacular capillaries and vessels
recessive cases also being reported. been shown to have reduced bone mass, a finding not temporally toward periphery
Penetrance estimated to be 9D-1 00% when using yet reported in other forms of FEVR (1). Dilation of perimacular capillaries with mild leakage
indirect ophthalmoscopy and fluorescein Abnormal tortuous and stretched vessels
angiography to evaluate.
Highly variable phenotypic expressivity ranging from ~ DIAGNOSIS Peripheral AV shunts with leakage
asymptomatic disease to complete blindness in HISTORY
infancy. A complete family history as well as history of any
Thus far. 4 loci have been mapped, with genes from prematurity and/or oxygen therapy should be
3 of these loci identified: ascertained.
-The EVR1 locus localizes to chromosome Earlier studies suggested roughly 1/2 of affected
11q13-q23; the EVR1 gene is FZD4. individuals are asymptomatic. Recent molecular
-The EVR2 locus is the X-linked recessive locus and testing suggests this figure could be as high as 90%
localizes to chromosome Xp 11.4; the EVR2 gene (1).
is NDP, the same mutated gene in Norrie disease
Diagnosis of asymptomatic patients is typically made
(X-Iinked recessive disorder characterized by when family members of suspected or known cases
congenital blindness as well as sensorineural
are examined.
deafness and mental deficiencies in 30% of
patients).
302
FAMILIAL EXUDATIVE VITREORETlNOPATHY
Patholog/GIJ Findings PATIENT EDUCAllON 6. Boldrey EE, Egbert P, Gass DM, et al. The
Cases to date have shown total retinal detachment o Genetlc counseling approp~ate to the mode of histopathology of familial exudative
with prom lnent flbrovascula r membranes. In addition, inheritance should be offered. vitreoretinopathy. Arch Ophthalma/ 1985;103:
some cases have shown intraretinal and subretinal o Family members should be educated on the dtronic, 238-41.
cells/exudates, and foca I retinal inflammation (6). progressive course and variable nature of the 7. Benson WE. FamiliaI Exudative vitreoreti nopathy.
DIFFERENTlAL DIAGNOSIS disease and shoold undergo screenIng examInation. Trans Am Ophtha/mol Soc 1195;93:473-521.
o The condition that most dosely resembles FEVR is PROGNOSIS 8. Quiram PA. Dresner [A, L.ai MM, et al. Treatment of
retinopathy af prematurity (ROP). o Benson (7) reported a poor visual prognosis with vaSOJiarfy active familial exudative
- Positive fa mlly history and IaeX. of history af onset of symptoms p~or to age 3; older patients vltreoretlnopathy wtth pegaptanlb sodium
prematurity help distinguish FEVR from ROP. were thought to have a better prognosis due Ia (Macugen). Retina 2008;28(3):~5 12.
o Other conditions that may mimic FEVR: Persistent more asymmetric involvement 9. Pendergast SD, Trese MT. Familial exudative
fetal vasculature, X-lin ked reti noschisis, Norrie o Even those considered stable for years have the
vltreoretlnopathy. Results af su rg leal management
disease. incontinentia pigmenti, Coats' disease, pars potential to progress. Ophthalmology 1998;1 05:1 015-I 023.
planitis. and Toxocara infection (7). o Patients with eady exudation in wi1 ich the abnormal
vessels respond to laser or cryotherapy appear to
have the best prognosis. CODES
. TREATMENT
COMPLICATIONS ICD9
ADDITIONAL TREATMENT Neovascularization, hemontlage, exudation, AV o 362.11 Exudative retinopathy
Additional Therapies malformations. fa lcHonm folds and marular ectopia,
o 362.16 Retinal neovascula~zatlon nos
o Anti-VEGF therapy: retinal tears and TRD, blindness.
- I case series (8)[C] af 4 patients with increasing
I
exudates despite standard therapy were given a REFERENCES CLINICAL PEARLS
single ln]ettlon of pegaptanlb sodium. After
11 months. aII patients had evidence of decreased 1. Toomes c. Downey L Familial exudative o The sentinel event in FEVR is a genetic defect that
exudation. However, traction continued to Yitreoretinopathy, autosomaI dominant In: Pagon results In Incomplete development of retinal
progress. pos.si bly even accelerated by the RA, Bird TC. Dolan CR, Stephens K. (eds). Gene vasculature. VisuaI morbidity arises secondary to
anti-VEGF agent. Relliews. University of Washington: Seattle; complications from retinal ischemia associated with
- More data needed to assess role/long tenm 1993-2005, Dec 2008 update. a pe~pheral avaSOJiar zone.
complications of VEGF inhibitors in FEVR 2. Toomes C, Downey LM, Bottomley HM, et al. o Genetic mutations with in a signaling complex that
SURGERY/OTliER PROCEDURES Further evidence of genetic heterogeneity in activates the Norrin-,B-eatenin pathway, which
o The following recommendations are based on a familial exudative vltreoret! nopathy; exclusion of regulates retinal vasogenesls, have been klentlfled.
retrospective case series by Pendergast and Trese EVR1, EVR3, EVR4 in a large autosomal dominant o FEVR has wide phenotypic variabiIity:
(9)[C]: pedigree. Br1 O!iJthalmo/ 2005;89(2):194--197. - Mild forms of disease are often asymptomatic and
-Eyes with presence of avasrular zone only should 3. Junge HJ, Yang s, Burton JB, et al. TSPAN12 show only peripheraI abnonmal ities such as an
be observed. regulates retinal vasrular development by avascular zone, AV malformations. and Increased
- Eyes with early stages of ne~WaSOJiarization or promoting Norrin-but not Wntinduced FZD4/ vaSOJiar brandl ing.
exudate without retinal detachment should beta-catenin signaling. Cel/2009; 139:2!19-311. - More severe forms show neovascularization,
receive laser ablation or cryotherapy if there is 4. Poulter JA, Manir A. Gilmour OF, et al. Mutations in vitreous hemorrhage, subretinal exudation, and
significant exudation and retinal elevation. BPAN 12 cause autosomal-dominant fami Iial fibrosis with retinal t!action, tears. detadlment,
-Eyes with mild TRD not lnvoMng the fovea may exudative vitreoretinopathy. Am JHum Genet and/or macular ectopia.
respond well to scleral bucld ing alone, wi1 ile more 2010;86:248-253. o Family members of FEVR patients should be
adva need detachments require pars plana 5. Nijhuis FA, Deutman AF, Aan de Kefk AI. screened to promote early detection.
Yitrectomy as well. Fluorecein angiography in mild stages of dominant o FEVR is a l~ime disease and may continue to
exudative vitreoretinopathy. Mod Probl Ophthalmol progress years after considered to be stable.
1979;20:1 07-114.
ONGOING CARE
o Children require regular monitoring for early
detection of neovascularization, exudate, and TRD.
o Asymptomatic patients whose only manifestation is
the peripheral avaSOJiar region may require annual
follow-up only.
o Those with neovascularization or exudate should
undergo treatment and dose obseMIIion.
o Those with retinal traction should be fullowed at
intervals based on stability af dinical findings.
Patiellt Monitoring
See Follow-Up Recommendations section.
303
FETAL ALCOHOL SYNDROME
Tiffany Shiau
Esther Lee
Alex V. Levin
Most studies on ADH 1Bfound a higher risk of
alcohol-caused birth defects when the fetal
genotype is homozygous for a particular at risk
DESCRIPTION allele. The same genotype was also associated with HISTORY
Fetal Alcohol Syndrome (FAS) is the most severe end a higher drinking frequency at conception. This does Exposure to alcohol in utero
on the continuum known as FEtal Alcohol Spectrum not explain the higher FAS occurrence in African NOTE: Patients often underreport consumption due
Disorders (FASD), an umbrella term that Americans and Native Americans. the groups that to stigmatization.
encompasses the adverse effects to developing have lower prevalence of the genotype. PHYSICAL EXAM
fetuses from alcohol exposure in utero. Another ADH 1B allele seems to be a protective
With the proposed clarifications to the Institute of factor. Ophthalmological findings are frequently seen in
Medicine's 1996 diagnostic criteria, children with Sequence variation in the cytochrome P450 E1 children with FAS, the most common findings are
FAS must fulfill 3 domains. Growth retardation (CYP2E 1) gene, which is involved in ethanol (7)1A] the following:
(~1Oth percentile for height or weight), facial metabolism, has been suggested to yield a higher -short palpebral fissures, ptosis. epicanthus.
anomalies that satisfy ~2 of the 3: short palpebral risk for FAS, even after adjusting for alcohol intak.e. telecanthus
fissures, thin vermilion border of upper lip and -microphthalmos
smooth philtrum, and lastly central nervous system GENERAL PREVENTION
-strabismus (especially esotropia)
abnormalities (structural or small head FAS is entirely preventable (4)[A] if the pregnancy is -reduced acuity, unilaterally, or bilaterally
circumference). alcohol-free. A strong predictor of alcohol use during - refractive error. most often myopia
The presence or absence of maternal alcohol pregnancy is consumption prior to conception. -anterior segment and media opacities.
exposure divides FAS into 2 subcategories (l)[A]: The U.S. Preventive Services Task Force - retinal dysplasia, tortuous retinal vessels
FAS with confirmed maternal alcohol exposure and recommended screening and behavioral counseling -optic nerve hypoplasia
FAS without confirmed maternal alcohol exposure. interventions in the primary care setting to lower -cortical visual impairment in severe cases
alcohol abuse. Also look for the nonophthalmologidfacial
Further, partial FAS characterizes those who satisfy
anomalies including head circumference
the aforementioned facial malformations but have PATHOPHYSIOLOGY
anomalies in only 1 of the other domains (CNS Mechanisms not well understood and most DIAGNOSTIC TESTS & INTERPRETATION
function/structure or growth). knowledge based on animal studies (5)[C] Lab
EPIDEMIOLOGY Craniofacial manifestations of FAS are lik.ely due to No reliable biochemical mark.ers available
lnddence teratogenic effects of ethanol and/or its metabolites Mark.ers proposed for identifying drinking in
With 4 billion babies born worldwide every year with such as acetaldehyde, before or during gastrulation pregnant women include fatty acid ethyl ester levels
in utero ethanol exposure, an estimated 1000-6000 and neurulation. in meconium and hair samples. gamma-glutamyl
have FAS (2)[C]. Alcohol intoxication induces oxidative stress with transferase (GGn. hemoglobin-associated
production of free radicals and disturbance of acetaldehyde. and carbohydrate-deficit transferrin.
Prevalence However, none has been proven to have high
antioxidant activities.
0.5-2.0 cases per 1000 live births (2)[C]. sensitivity and specificity (3)[C].
Immunocytochemical assays performed with
RISK FACTORS bromouridine incorporated into ethanol-exposed Imaging
Consuming ~ 1drinks per day or binges of rats' retina and optic nerve demonstrated CT/MRI of brain to detect associated anomalies.
> 5 drinks each episode (3)[C] diminished transcription activity in the eye tissues. Diagnostic Procedures/Other
Threshold not clearly defined because even 0.5 drink. Electroretinogram results have been inconsistent,
ETIOLOGY
daily has been linked to adverse outcomes further research necessary before considering using
Prenatal exposure to alcohol, a proven teratogen
Genetics Polymorphisms in certain genes may predispose the ERG to diagnose FAS (7)[C].
High recurrence rates in siblings growing fetus to FAS. DIFFERENTIAL DIAGNOSIS
Higher rates have been detected for African
Americans and Native Americans vs. non-Hispanic COMMONLY ASSOCIATED CONDITIONS Many infants born with congenital syndromes and
whites Poor adaptive and communication skills, including malformations have characteristics that resemble
poor understanding of social cues and registering ophthalmologic features seen in children with FAS
Different genotypes of alcohol dehydrogenase 1B
information in social contexts (6)[A] and they have coincidentally been exposed to
(ADH 1B). a gene (2)[A] which encodes the enzyme
alcohol in-utero (1)[A]
that catalyzes the break.down of ethanol to Lower IQ
acetaldehyde, has been found to carry unique risks Learning disabilities, seen in subjects such as Velocardiofacial syndrome (VCFS).
for FAS. language comprehension and mathematics Williams syndrome
Substance abuse Blepharophimosis syndrome
Mental health problems Dubowitz syndrome
Congenital heart defects and other medical
conditions
304
FETAL ALCOHOL SYNDROME
REFERENCES CLINICAL PEARLS

. TREATMENT 1. Hoyme HE, May PA. Kalberg WO, et al. A practical FAS Is part of the FASD continuum and speclftc facial
MEDICATION clinical approach to diagnosis of fetal alcohol anomalies are necessary for tl1e diagnosis, one of
None for ophthalmolll!JiC abnonmaIitills spectrum disorders: clarification of the 1996 which is short palpebral fissures.
lnstitue of medidne criteria. Pediatrics 2005; FAS is entirely preventable when women refrain
Stlmulant medications such as methylphenidate and 115(1):3H7. from consuming alcohol during their pregnancies.
dextroamphetamine have some efficacy in treating 2. Strllmland K. VIsual Impairment and oOJiar Physicians should saeen all women of child-bearing
children witt! concomitmt psych iatric problems abnormalities in children with fetal alcohol age regarding their alcohol use as prevention Is
(e.g. ADHD), but larger-scale studies are needed to syndrome. Addict Bioi 2004;9(2}:153-1 57; most fifective when begun prior to conception.
confirm this (6)[A[. discussion 159-160. Many ophthalmic findings in FAS are nonspecific.
ADDITIONAL TREATMENT 3. Green RF, Stoler JM. Alcohol dehydrogenase 1B therefore consider FAS a diagnosis of exclusion after
General Meuures genotype and fetal alcohol syndrome: a HuGE other medical conditions presenting witl1 similar
In children witt! amblyopia, patching of the better mlnlrevlew. Am J Obstel Gyneco/ 2007;197(1): features have been ruled out
eye should be attempted 12-25. After a tl1orough ophtl1almlc exam!nation, necessary
Treat refractive errors with corrective lens 4. Sokol RJ, Delaney-Black V, Nordstrom B. Fetal interventions should begin as early as possible to
Alcohol Spectrum Disorder. lAMA 2003;290(22): preserve visual acuity.
Issues fur Refem~l
2996-2999. No reliable laboratory rna OO!rs are currently
Hthere are characteristics inconsistent with the
diagnosis, consider referral to a dinical geneticist or 5. Floyd RL. Weber MK. Denny c. O'Connor MJ. available to diagnose FA~
dysmorphologist. Prevention of fetal alcohol spectrum disorders. Dev Treaunent for FAS needs to be multldlsdpllnary as
Oisabil Res Rev 2009;15(3):193-199. children frequently suffer from comorbid
Additional nuwples 6. Striimland K. Pinazo-DurAn MD. Ophtl1almic medical/psychiatric conditions.
I
MedicaI seiVices for any comorbid conditions involvement in the fetal alcohol syndrome: dinical
Rlr associated ocular conditions as needed (6)[A] and animal model studies. Alcohol Alcohol
2002;37(1):2-8.
7. Paley B, O'Connor MJ. Intervention for individuals
For associated strabismus or ptosis as indicated.
with fetal alcohol spectrum disorders: treatment
approaches and case rna nagement. Dev Disabil RPS
$ ONGOING CARE Rev 2009; 15(3):258-267.
FOLlOW-UP RECOM MENDA110NS

As needed for amblyopla detection and treatment ADDITIONAL READING
Low vision services as Indicated hnp:tlwww.cdc.gov/ncbddcllfasdllndex.hunl
PAllENT EDUCATION
Parents of should be educated on the nature of FAS.
e.g., to recognize behavioral issues as a f ; coDES
manlfestatlon of the syndrome and learn to cope
witl1 their children's symptoms caused by FAS (6). ICD9
http:flwww.faslink.orgl 374.89 Other disorders of eyelid
http:/lwww.nofas.org/living/resources.asp~e 743.61 Congenital ptosis of eyelid
Mothers v.t.o engage in alcohol abuse prenatally are 760.71 Alcohol affecting fetus or newborn via
likely to continue after the birth of tl1elr child. placenta or breast milk
Appropriate Interventions (e.g., Alcoholics
Anonymous) should be recommended.
PROGNOSIS
Improvement in vision depends on ea~y identification
and intervention, in infancy or preschool age.
COMPLICATIONS
Irreversible loss in visual aOJity if amblyopia from
strabismus or refractive error not corrected
305
R.OPPY EYELID SYNDROME
Ptosis
Chronic blepharoconjunctivitis
DESCRIPTION HISTORY
Ectropion
A loose and unstable upper eyelid associated with a Chronic mucous secretion
Vernal conjunctivitis
chronic papillary conjunctivitis and spontaneous Foreign body sensation-worse upon awakening
Giant papillary conjunctivitis
eversion ofthe eyelid during sleep (1 )[C] Eversion of upper eyelid during sleep
Superior limbic keratoconjunctivitis
Sleeps on affected side of face
EPIDEMIOLOGY
Incidence
Males > female
Obesity (2)[C]

Snoring
Smoking
PHYSICAL EXAM
rJ TREATMENT
MEDICATION
Unilateral or bilateral Downward pointing upper eyelashes-lash ptosis
Easily everted upper eyelid
First Line
RISK FACTORS Viscous ocular lubrication
Obstructive sleep apnea---flypopnea syndrome Soft and rubbery consistency of upper eyelid tarsal -Artificial tears, gel, ointment
(OSAHS) plate
Horizontal laxity upper and possibly lower eyelids Second Line
Recurrent mechanical rubbing Oral doxycycline 100 mg b.i.d.
Chronic papillary conjunctivitis of upper eyelid
GENERAL PREVENTION Ptosis ADDITIONAL TREATMENT
CPAP for treatment of sleep apnea may improve
Lagophthalmos with secondary corneal punctuate General Measures
floppy eyelid.
keratitis Bedtime patching/taping shut
PATHOPHYSIOLOGY Eye shield
Upregulation of elastin-degrading enzymes (matrix
(PAP unit
metalloproteinases) secondary to reperfusion ischemia Lab
and repeated mechanical trauma on sleeping side or Initial lab tests Issues for Refe"al
by repeated rubbing. Sleep study. Ophthalmologist 1-2 week.s.
ETIOLOGY
Unknown ALERT
Elo~gation of tarsal plate allows flaccidity of upper Strong association of OSAHS and systemic
eyelid sequelae.
Ischemia secondary to obstructive sleep apnea - - Cardiovascular disease
hy~pnea syndrome leads to optic neuropathy, -Stroke
papilledema, glaucoma (3)[C], (4)[C] -Obesity
COMMONLY ASSOCIATED CONDITIONS - Metabolic syndrome
Obstructive sleep apnea---flypopnea syndrome - Cognitive and emotional disorders
(OSAHS), >90% - Drowsiness-related accidents
High body mass index
Keratoconus on sleeping side
306
FLOPPY EYELID SYNDROME
Additional Tllfllilplfls
OSAHS
REFERENCES a Sea Alia (Tapic, Al1arithm, Electranic
~ Media Ele11en0
- Behavioral 1. Pham T, Perry J. Floppy eyelid syndrome. CUlT Opin
- Mandibular advancement di!Yice Ophtha/mo/2007;18:43o-433. W'IIWI.asaprs.org
- Surgery induding UPPP, tonsillectomy, 2. Cheung N, Wong TY. Obesity and eye diseases. Ectropion
tracheostomy Surv Of/ltha/mol 2007;52:180-195.
SURGERY/OTHER PROCEDURES 3. McNab A. The eye and sleep. Clin Exp 0/ilthalmol
Defer surgery If possible until after OSAHS treated 2005;33:117-125. . CODES
SurglcaI procedures 4. Karakucuk S, Goktas S, Aksu M, et al. Ocular blood
-Full thickness eyelid resection (may also improvl! flow In patients with obstructive sleep apnea ICD9
ptosis) syndrome (OSAS). Graefes Arch Clin Exp 372.39 Other conjunctivitis
-Horizontal eyelidfcanthal tightening 0/ilthalmol 2008;246:129-134. 374.10 Ectropion, unspedfied
Recurrences and repeated surgeries common 374.89 Other disorders of eyelid
ADDITIONAL READING
(f) ONGOING CARE Ezra DG, Beamnsfield M, Sila M, et al. L.ongterm
outcomes af surgical approaches to the treatment of
CLINICAL PEARLS
FOU.OW-UP RECOM MENDA110NS Floppy eyeIid syndrome is associated with severe
Ophthalmologist 1-2 weeks to monitor comea. floppy eyelid syndrome. Ophthalmology 201 0;
117:839-846. cardiovascular and cerebral sequelae of obstructive
PA11ENT EDUCATION Ezra DG, Beaconsfield M, Sira M, Bunce C, wormald sleep apnea--hypopnea syndrome (OSAHS).
Importance of treatment of obstructive sleep apnea is R. Collin R. The associations af floppy eyelid Floppy eyeIid syndrome may improvl! with CPAP
stressed to decrease OOJiar and systemic morbidity. syndrome: a case mntrol study. Ophthalmology
2010;1, 7:8314138.
therapy.
Floppy eyeIid syndrome is associated with severe
f
PROGNOSIS ow lar sequelae including corneal, optic nerve, and
Treatment of sleep apnea with CPAP unit may improve glaucoma disorders..
floppy eyelid syndrome and its associllled ocular and
systemic pathologies.
COMPLICATIONS
Corneal abrasion, ulcet scarrtng, perforat!on
Optic neuropathy--nonarteritic
Glaummit-t'1ormaltension
Papilledema
307
FOREIGN BODY INTRAORBITAL
Omaya H. Youssef
~ BASICS PHYSICAL EXAM

Visual acuity can range from normal to complete
loss of vision, depending on associated ocular and
MRl if CT scan is negative and non-metallic IOFB is
suspected
- MRl can be used to localize BBpellets, whidl are
DESCRIPTION orbital injuries. made of steel, and coated with copper or zinc
Intraorbital foreign bodies (IOFBs) occur as a result of Afferent papillary defect may be present if optic Ultrasound (US) can be used to localize the IOFB;
a high-velocity penetrating injury or direct impalement nerve is involved. however it does not image the orbital apex reliably.
of an object. Extraocular muscle underaction, if extraocular Follow-up ll special considerations
EPIDEMIOLOGY muscles are affected Orbitocranial extension should be ruled out,
The majority are male, typically of young age (less than Gaze-evoked amaurosis (with apical IOFBs) especially in children who have thinner orbital
30 years old). Blepharoptosis bones.
Proptosis - Coronal and parasagittal images should be
GENERAL PREVENTION obtained in suspected transorbital, intracranial
Education and protective eyewear. Orbital inflammation
Careful examination of the periocular skin and penetration.
PATHOPHYSIOLOGY conjunctiva, especially the fornices, to identify entry Diagnostic Procedures/Other
Traumatic insertion of a foreign body through the wound Electroretinography (ERG) to assess for photoreceptor
eyelid or conjunctiva. toxicity if iron or copper containing IOFB is adjacent to
ETIOLOGY sclera.
Projectile, usually metallic, foreign bodies such as
Lab
Wound culture (aerobic, anaerobic, fungal) Pathological Findings
BB pellets and firearms With organic IOFBs: Chronic inflammation with or
Foreign body culture
Penetrating trauma from nonmetallic foreign bodies, without granulomatous reaction and fibrosis.
either organic (e.g., tree brandl, pencil) or inorganic CBC may reveal elevated serum white cell count
(glass, plastic, or stone) secondary to chronic orbital inflammation DIFFERENTIAL DIAGNOSIS
Imaging Orbital cellulitis
~ DIAGNOSIS Plain film radiographs for metallic IOFBs Idiopathic orbital inflammation
CT Orbital neoplasm (children)
HISTORY - Excellent for identifying metal or glass
A history of periocular trauma is usually elicited. - Safe in the presence of ferromagnetic metallic
foreign bodies
A delayed presentation from the time of injury is not
- lnorgan ic IOFBs (e.g., wood) can mimic air on CT
uncommon, especially with children or patients who
- Quantitative CT with wide bone window settings
sustain trauma while under the influence of various
can distinguish wood from low-density signals of
substances.
air or fat
A detailed history is essential in patients who
present with orbital infections or inflammation.
308
FOREIGN BODY INTRAORBITAL
ADDITIONAL READING
Finlcelstein M,Legmann A. Rubin PA. Projectile
MEDICATION FOLLOW-UP RECOMMENDATIONS metallic foreign bodies in the orbit: a retrospective
Broad-spectrum antibiotic tl1erapy wltl1 anaeroblc Ophthalmologist study of epidemiological factors, management. and
coverage. in Ulses of orbital cellulitis secondary to Neurosurgeon (H intracranial involvement) outcomes. Ophthalmolagy 1997;1 04:96-103.
duonical~ retained IOFBs (more common witl1 Fulcher TP, McNab AA. Sullivan TJ. Clinical Features
PROGNOSIS
organic IOFBs) and Management of Intraorbital Foreign Bodies.
Vision loss is generally related to initial injury and
Antitetan us prophylaxis Ophthalmology 2002;109:494-500.
not as a result of complications from IOFB or
management. Ho VH, Wilson MW, Fleming JC, et al. Retained
SURGERY/OTHER PROCEDURES Intraorbital Metallic Foreign Bodies. Ophthal Plast
SurgiU!I removal depends on vtsual starus, Retained metallic IOFBs are usual~ well-tolerated
Reconstr Surg 2004;20:232-236.
composition of IOFB, and loti!ion within tl1e orbit and have a good vlsuaI prognosis. The exception Is
metallic IOFBs containing copper, whid1 can cause a Nasr AM. Haik BG. Fleming JC, et al. l'!!netrating
o SurgiUII removal is ind lUlled for the following:
chronic suppurative orbital inflammation. Orbital Injury with Organit Foreign Bodies.
- Neurological compromise Ophthalmology 1999;106:523-532.
- Ocular motility restriction Organlc IOFBs have a higher Incidence of
vision-t11reatening compliti!ions, and a higher risk Shelsta HN, Bilyk JR, Rubin PA. et aL Wooden
- All organic IOFBs
of arbitaI and cerebral infections. Intraorbital Foreign Body Injuries: Clinical
- Inorganic 10FBs if they are located in tl1e anterior
Charactet1st1cs and Outcomes of 23 Patients.
orbit and are easily accessible COMPLICATIONS Ophthal Plast lleconstr Surg 201 0;26:238-244.
o Inorganic 10FBs that are loti!ed posteriorly may be Arutl! orbital cellulitis (usually from organic material
left in place, unless they are causing orbital such as wood)
complications. Ch ronlc suppurative arbltallnflammadon (from . CODES
I
l'!!rcutaneous US and fluoroscopy can be used copper foreign bodies)
intraoperatively to localize tl1e IOFB. Sterile abscess ICD9
o Orbitoartaneaus fistula 360.60 Rlreign body, intraocular, unspecified
Orbital wall osteomyelitis 870.4 Penetrating wound of orbit witl1 foreign body
Cerebral infection
CLINICAL PEARLS
Rule out lntracranlallnvolvement of IOFB prior to
removaL
All organic IOFBs should be removed.
Inorganic IOFBs that are easily accessible In the
anterior orbit should be removed, while those in the
posterior orbit can be left in place unless causing
orbital com plicalions.
309
FOVEAL HYPOPlASIA
Michael J. Bartiss
Results from incomplete development of the fovea. ~ DIAGNOSIS
In albinism, the absence of melanin in the retinal
DESCRIPTION pigmented epithelium leads to a failure of induction HISTORY
Clinical condition characterized by an abnonnal of proper macular development Poor vision, possible nystagmus.
funduscopic appearance of the macula and decrease In aniridia or isolated macular hypoplasia due to PHYSICAL EXAM
or absence of tile foveal reflex and varying degrees PAX6 mutation it is presumed that there is a failure Full ocular examination including careful evaluation
of macular hypoplasia of induction of a gene(s) downstream from PAX6, ofthe macula
Macular vessels often traverse near or across the responsible for macular differentiation. Careful examination with indirect ophthalmoscope
normally avascular zone of the fovea. by noting presence or absence of annular ring and
Optic nerves and peripheral retina may appear ETIOLOGY
Thought to result from incomplete embryologic foveal light reflex and anomalous patterns of
normal. macular vessels
development of the fovea, which typically develops in
Visual acuity typically in the 20/1 OQ-20/200 range Assess vision, nystagmus
stages:
but variable depending on degree of hypoplasia
Stage 1: Indistinct pigmented area DIAGNOSTIC TESTS 1r INTERPRETATION
EPIDEMIOLOGY Stages 2 and 3: Development of the annular reflex Lab
Unknown. Stage 4: Appearance of the foveal pit Initial lab tests
RISK FACTORS Stage 5: Development of the foveal reflex None needed.
Commonly associated with albinism and aniridia
COMMONLY ASSOCIATED CONDITIONS Follow-up a special considerations
Family history Achromatopsia Consider molecular genetic testing where
Genetics appropriate.
Albinism
When seen in combination with aniridia or albinism Aniridia Imaging
the genetics of those syndromes apply. Also Less common: Axenfeld-Reiger Initial approadl
reported with Axenfeld-Reiger spectrum. OCT can be used for grading.
Nystagmus
Isolated autosomal dominant macular hypoplasia -Widespread thickening of the retina ltlroughout
Reduced vision
may be due to mutations in PAX6 (11 p13). the entire fovea with no difference in thickness
Autosomal recessive inheritance also reported from the surrounding macula
including foveal hypoplasia with anterior segment - High reflectivity of the inner retina
dysgenesis (FHASD, 16q23.2-24.2).
GENERAL PREVENTION
Genetic counseling and/or prenatal testing (if mutated
gene known or syndrome recognized in family).
310
FOVEAL HYPOPLASIA
Diagnostic ProCIIrJu/WSIOthaT ArJtlltlonal Theraplu ADDI110NAL READING

Visual f~eld, espedally Goldmann, may be helpful. Maximization of vision potential with spectades.
Pathological Findings contact lenses. and/or low-vision aids. Brodsky MC, Baker RS, Hamed LMPediatric
Absence of foveal differentiation and red-free mne COMPLEMENTARY a ALTERNATIVE Neuro-<Jphlila/mology-, 2nd ed. Springer: New
Continuation of ganglion cell layer th roug holll THERAPIES York. New York. 1!196:304-307,314.
mawIa None proven or indicated. Schroeder HW, et al. Hereditary foveal hypoplasia.
Associated with reduction in the th iclcness of the Klin Monbl Augenheikd 20D3;220(8):559-562.
SURGERY/OT11ER PROCEDURES Holmstrom G, et al. Optical CDherence tomography
optic nerve and In the volume of gray matter In the None for fovea I hypoplasia
vtsual cortex Is helpful In the diagnosis of foveal hypoplasia. Acta
Strabismus and nystagmus surgery as indicated Ophlha/mol 201 0;88(4):439-442.
Abnormalities in the length and mean surface area (nystagmus surgery unlikely to yield great visual
of the c:alcari ne fissure present in visual CDnex Mietz H, et al. Foveal hypoplasia in CDmplete
acuity improvement) owkKlltaneous albinism. A histopathologic study.
DIFFERENTIAL DIAGNOSIS Retina 1992; 12(3):254-260.
Eplretlnal membrane Huynh SC, et al. Macular and neM fiber layer
Macular drag (e.g. retinopathy of prematurity, ONGOING CARE thickness in amblyopia: the Sydney Childhood Eye
familial exudative retinopathy) FOLLOW-UP RECOMMENDATIONS Study. Ophthalmology 2009;116(9):1604-1609.
High myopia As needed for amblyopia and strabismus monlto~ng
Blonde fundus and treatment
Congenitally anomalous retinal vascular (e.g., - Low-vision t'Villuation . CODES
macrovessel, tllrtl.lositv) Patient Mot~lfDrlng
Optic atrophy with seCDndary macular neM! fiber Monitor patients for associated conditions of ICD9
loss
I
aniridia and albinism and CDngenltal nystagmus 362.89 Other retina I disorders
Optic nerve hypoplasia VIsual development and function
Retinal/macular dystrophy If asymmetric. amblyopia can ocwr.
Strabismus.
CLINICAL PEARLS
. TREATMENT PROGNOSIS Look for this condition in patients with significant
VIsual prognosis based on assodated conditions and subnormal vision and without nystagmus.
MEDICATION degree of macular hypoplasia Look closely for this condition in patients who do
None. Presence of anomalous blood vessels in macuIa not respond as expected to amblyopia therapy.
ADDITIONAL TREATMENT (e.g., crossing midline raphe. extending close or
General Measures through putative fovea) assodated with worse
Amblyopia therapy as indicated visual prognosis
Genetic CDunseling COMPUCATlONS
If photophobia CDnsider Coming lenses Low vision, nystagmus. amblyopia, strabismus.
ISsues for Refeml
Genetic CDunsellng/OCYiar genetics
Lowvision
311
FRACTURES, ORBITAL FLOOR
Paul B. Johnson
~ BASICS
Globe rupture Imaging
Hyphema/microhyphema CT scan of the orbits with coronal and axial views
DESCRIPTION Traumatic iritis demonstrates a defect in the bony floor of the orbit
Traumatic defect in the bony floor of the orbit Commotio retinae with possible entrapment of soft tissue and/or
Can extend from fractures of the inferior orbital rim Choroidal rupture extraocular muscle.
Indirect (blowout) fractures of the orbital floor are Traumatic optic neuropathy
not associated with fracture of the orbital rim. DIFFERENTIAL DIAGNOSIS
Orbital hemorrhage and edema without a fracture:
EPIDEMIOLOGY
Incidence and prevalence variable ~ DIAGNOSIS No fracture on CT
Cranial nerve palsy: normal forced-duction test
RISK FACTORS
Male gender
Younger age (15-30 years)
Participation in sports
HISTORY
Inquire about the timing and specific circumstances
of the trauma
Classic history involves the orbital entrance being
rJ TREATMENT
MEDICATION
Substance abuse struck by an object larger than the diameter of the Broad-spectrum oral antibiotics, especially if patient
orbital opening (e.g., fist, dashboard, ball) has a history of sinusitis, diabetes, or is
GENERAL PREVENTION Nausea, vomiting, and bradycardia can indicate immunocompromised: cephalexin 250-500 mg p.o.
Wear eye protection when engaging in sports entrapment q.i.d. or erythromycin 250-500 mg p.o. q.i.d. for
involving objects that move at high velocity (baseball,
PHYSICAL EXAM 7 days
softball, hockey).
Eyelid ecchymosis Methylprednisolone (Medrol) dose pack if patient
PATHOPHYSIOLOGY Eyelid edema has extensive swelling
Two theories:
Diplopia with limitation on upgaze, downgaze, or ADDITIONAL TREATMENT
A nonpenetrating object strikes orbital entrance both General Measures
causing a sudden increase in intraorbital pressure. Forced duction test: Instill anesthetic eyedrops No nose blowing
The contents of the orbit are compressed posteriorly followed by lidocaine 2% gel. Grasp the insertion of
toward the apex of the orbit. The orbital bones Nasal decongestants
the inferior rectus muscle through the conjunctiva Ice packs
break at their weakest point, usually the posterior with a toothed forceps, and attempt to rotate the
medial part of the floor in the maxillary bone. globe up and down. Restriction when rotating the Issues for Refe"al
The striking object causes a compressive force at the globe upward indicates possible entrapment. If not a surgical candidate, referral should be made
inferior rim, which leads directly to buckling of the Enophthalmos to a general ophthalmologist to be seen within
orbital floor. 7-10 days ofthe initial trauma.
Hypoglobus
EnOLOGY If a surgical candidate, referral should be made to
Infraorbital hypesthesia
Trauma (see above) an oculoplastic surgeon within 7-10 days of the
Emphysema of the eyelids and orbits initial trauma.
Step-off deformity of orbital rim palpated Any patient with nausea, vomiting, or bradycardia
secondary to entrapped extraocular muscle should
be evaluated by an oculoplastic surgeon at the time
of initial exam to evaluate the need for urgent
repair.
312
FRACTURES, DRBrTAL FLOOR
Pediatric Considflntlotls ADDITIONAL READING

Apediatric patient with an entrapped extraocular . CODES
muscle should be evaluated by an oculoplastlc Egbert JE, May K, Kersten RC, et al. l'ediatric orbital
surgeon at the time of InIt!aI exam to evaluate the floor fracture--direct extraocular muscle ICD9
need for urgent repair (24-48 hours). involvement Ophthalmology 2000;1 07: 802.6 Closed fracture of orbita Ifloor (blow-out)
1875-1879.
SURGERY/OTHER PROCEDURES 802.7 Open fracture of orbital floor (blow-out)
Harris GJ, Garda GH, Logan! SC, et al. Correlation of 871.0 Ocular laceration without prolapse of
Not aII fractures need to be repaired. preoperative com puled tomography and
Indications for surgical repair: intraocular tissue
postoperative ocular motility in omital blowout
- Fracture Involving at least 50% of the orbital floot fractures. OphthaJ P/851' Reronstr SUf!J 2000;
especially associated with large medial wall 16:179-187.
fractures on CT Hawes MJ, Dortzbach RIC Surgery on omltal floor
CLINICAL PEARLS
- Enophthalmos greater than 2 mmthat is fractures: influence oftime of repair and fracture l'ediatric orbital blowout fractures with entrapment
cosmetically unacceptable to the patient size. Ophthalmology 1983;90: 1066-1070. of extraocular musdes should be considered for
- Diplopia with lim ltatlon of upgaze and/or Jordan DR, Allen LH, White J, et al. Intervention urgent repair.
downgaze within 30 of primary gaze within days for some orbital floor fractures: the Optimal time for nonentrapped, omital floor fracture
Should take place within 2 weeks of initial trauma white-tyee~ blowout. Ophthal Plast Reronstr SU!!J repair is within 2 weeks of the initial trau rna.
Involves releasing entrapped tissue and placing an 1996;14:379-390. Orbital CT sea ns with axial and corona Icuts are the
orbital implant to separate the omit from the Okulicz JF, Shah RS, Schwartz RA, et al. key for making the diagnosis and surgical planning.
maxillary sinus Oculocutaneous albinism. Eumpean 1 Eur ACild A white-tyee~ blowout fracture can occut
Dermatol Venereo/2003;17:251-256. especially In pedlat~c population, with entrapped
ONGOING CARE Putterman AM, Stevens T, Urist MJ. Nonsurgical muscle. poor motility, and very little external signs.
I
rna nagement of blowout fractures of the orbital See White Eyed Blow Out Fracture.
FOU.OW-UP RECOM MENDA110N5 floor. Am J Ophlhalmo/1974;77:232-239.
Ophtha Imolog ist
Otolaryngologist/oraI maxi llofacia Isurgeon as
needed
PA11ENT EDUCATION
www.n lm. ni h.gov/medlinepl usfeyeinjuries. html
PROGNOSIS
Depends on the extent of associated injuries
COMPLICATIONS
Decreased vision
Diplopia
Enophthalmos
lnfraomital hypesthesia
Omital cellulitis
313
FRACTURES, ORBITAL MEDIAL WAll
Paul B. Johnson
~ BASICS
Globe rupture Imaging
Hyphema/microhyphema Computer tomographies (CD of the orbits with
DESCRIPTION Traumatic iritis coronal and axial views demonstrate a defect in the
Traumatic defect in the bony medial wall of the orbit Commotio retinae bony medial wall of the orbit with possible entrapment
Can extend from fractures of the maxilla. lacrimal Choroidal rupture of soft tissue and/or extraocular muscle.
bone, and ethmoid bones
Traumatic optic neuropathy DIFFERENTIAL DIAGNOSIS
Indirect (blowout) fractures of the medial wall are
Orbital hemorrhage and edema without a fracture:
not associated with fracture of the orbital rim
EPIDEMIOLOGY ~ DIAGNOSIS No fracture on CT
Cranial nerve palsy: Normal forced-duction test
Incidence and prevalence variable
RISK FACTORS
Male gender
Younger age (15-30 years)
HISTORY
Inquire about the timing and specific circumstances
of the trauma
Classic history involves the orbital entrance being
rJ TREATMENT
MEDICATION
Participation in sports struck by an object larger than the diameter of the Broad-spectrum oral antibiotics, especially if patient
Substance abuse orbital opening (e.g., fist, dashboard, and ball). has a history of sinusitis, diabetes, or is
Nausea, vomiting, and bradycardia can indicate immunocompromised: Cephalexin 250-500 mg PO
GENERAL PREVENTION entrapment (more common in children and with q.i.d or erythromycin 250-500 mg PO q.i.d for 7
Wear eye protection when engaging in sports associated floor fractures). days
involving objects that move at high velocity (baseball,
PHYSICAL EXAM Medrol dose pad~ if patient has extensive swelling
softball, and hockey).
Emphysema of the eyelids and orbit ADDITIONAL TREATMENT
PATHOPHYSIOLOGY Eyelid ecchymosis
Blowout fractures of the medial wall are frequently General Measures
Eyelid edema No nose blowing
extensions of orbital floor blowout fractures.
Diplopia Nasal decongestants
Isolated medial wall blowout fractures can also
occur. Globe dystopia Ice packs
EnOLOGY Issues for Refem1l
Trauma (see above) If not a surgical candidate, referral should be made
to a general ophthalmologist to be seen within
7-10 days ofthe initial trauma.
If a surgical candidate, referral should be made to
an oculoplastic surgeon within 7-1 0 days of the
initial trauma.
Any patient with nausea, vomiting, or bradycardia
secondary to entrapped extraocular muscle should
be evaluated by an oculoplastic surgeon at the time
of initial exam to evaluate the need for immediate
repair.
314
FRACTURES, ORBITAL MEDIAL WALL
Pediatric Considflntlotls COMPUCATlONS

A pediatric patient with an entrapped extraotular Decreased vision . CODES
muscle should be evaluated by an oculoplastlc Diplopia
surgeon at the time of InIt!aI exam to evaluate the Enophthalmos ICD9
need for immediate repair. Orbital cellulitis o 802.8 Closed fracture of other fatia I bones
SURGERY/OTHER PROCEDURES 802.9 Open fracture of other fadal bones

Indications: ADDITIONAL READING
Fracture contlg uous w1th afloor fracture Involving a CLINICAL PEARLS
significant portion of the orbital floor on CT o Gilbard SM, Mafee MF, L.agouros PA, et al. Orbital
Enophthalmos > 2 mmthat is cosmetically blowout fractures: The prognostic significance of Fractures of both the medial orbitaI wall and floor
unacceptable to the patient computed tornog rapl1y. Ophthalmology are associated with the highest rates of
Diplopia 1985;92(11 ):1523-1528. enophthaImos.
- Should take place within 2weeks of Initial trauma o Harris GJ, Garda GH, Logani SC. et al. Correlation of Optimal time for repair is with in 2weeks of the
- An eyelid or transconju nctival approach can allow preoperative computed tomography and lnltlaI trauma.
for eJCploration of the orbital floor than can be postoperative ocular motility in orbital blowout Orbital CT sea ns are key for making the diagnosis
continued up along the medial wall fractures. Ophthal Plast Reconstr Surg. and surgical planning.
-The medial orbital wall can also be approached 2000;16(3): 179-187.
through atranscaruncular approach Jordan DR, Allen LH, White J, et al. Intervention
within days for some orbital floor fractures: The
white-eyed blowout. Ophtha/ Plast Reconstr Surg.
$ ONGOING CARE 1998;14{6):379-390.
I
FOLlOW-UP RECOM MENDA110NS Nolasco FP, Mathog RH. Medial orbital wall
OphthaImolog ist fractures: Classification and clinical profile.
OtolaryngoJ Head Neck Surg 199 5;112(4):49-56.
Otolaryngologist/oraI maxillofaciaI surgeon as
needed
PATIENT EDUCATION
www.nlm .nih.govlmedlineplusleyeinjuries.htrnl
PROGNOSIS
Depends on the extent of associated injuries
315
FRACTURE, WHITI-EYm BLOWOUT
Jurij R. Bilyk
~ BASICS
vagal response stimulated by a connection minority of cases. If indicated, the patient should be
between the trigeminal and vagus nerves. admitted to the pediatrics service.
- The oculocardiac reflex manifests as nausea, Pathological Findings
DESCRIPTION vomiting, and sometimes fainting, mimicking Incarceration and ischemia of the inferior (or less
Greenstick fracture of the orbital floor or medial symptoms of concussion. This can ~the cause of commonly medial) rectus muscles within a trapdoor
orbital wall resulting in ischemic entrapment of an bradycardia and heart block. fracture
extraocular muscle.
ETIOLOGY Alternatively, the perimuscular fasda and orbital fat
Typically seen in ltle pediatric population, although
As described above may be caught within the fracture.
young adults in their early 20s may~ affected.
Minimal external signs of trauma (lack of swelling, COMMONLY ASSOCIATED CONDrTIONS DIFFERENTIAL DIAGNOSIS
ecchymosis) mask the severity of the orbital injury, Intraocular injury (Including hyphema, vitreous Intracranial injury or concussion
ergo the term "white-eyed blowout fracture (WEBOF). hemorrhage, and choroidal rupture) Contusion injury to the extraocular muscle. In many
System: ophthalmic Oculocardiac reflex. bradycardia. heart block cases of orbital fracture. soft tissue contusion and
Synonyms: trapdoor orbital fracture Concussion and intracranial injury, including edema manifest clinically as diplopia and external
hemorrhage, are uncommon assodations In dle vast ophthalmoplegia. However, such cases typically lack
EPIDEMIOLOGY majority of WEBOFs. a significant oculocardiac reflex and patients do not
Occurs in children and young adults complain of severe nausea and vomiting.
No radal predilection
No gender predilection is reported. However, in
general males are more often involved In trauma
The orbital floor is more commonly involved than the
~ DIAGNOSIS
HISTORY
Blunt trauma to the periocular region.
rJ TREATMENT
MEDICATION
medial orbital wall (lamina papyracea).
Diplopia. WEBOF requires urgent surgical exploration (within
The etiology is typically due to a blunt force sports- 72 h) In essentially all cases
related injury, motor vehicle acddent, or physical Pain of attempted eye movement.
altercation. Nausea and vomiting, espedally wiltl attempted eye Medicalltlerapy is a secondary issue
lnddence and prevalence are unknown movements. Some clinicians will presaibe a 1-weel:. course of
Loss of consdousness is NOT a typical feature of postoperative systemic antibiotic therapy as
RISK FACTORS WEBOF. prophylaxis against infection. There is no evidence
Pediatric age group that this Is effective in an otherwise healthy patient.
Recent trauma PHYSICAL EXAM Some clinicians will prescribe a 1-week course of
External examination with minimal signs of injury: postoperative systemic corticosteroids to decrease
GENERAL PREVENTION minimal eyelid edema or ecchymosis,
Avoidance of eye trauma posttraumatic inflammation and fibrosis In the
subconjunctival hemorrhage hopes of decreasing the incidence of restrictive
WEB OF in children is most commonly due to sports Severe restriction in upgaze (with orbital floor strabismus. There is no evidence that this Is effective.
Injury, but it may also occur from other mechanisms fractures) or in abduction (with medial wall
(motor vehicle accident, altercation, etc.). Antiemetics may be prescribed for severe nausea
fractures). The child often refuses to open the eye and vomiting but may not be effective.
The use of eye protection in the form of because of discomfort.
polycarbonate safety glasses, goggles, or eye shields Chee~ numbness from infraorbital nerve contusion ADDITIONAL TREATMENT
is advised in all children involved in sports. Signs and symptoms can often be confused for a Genal Measures
The use of appropriate restraining devices is advised concussion If the eye is not examined. The patient is made NPO and cleared for general
In all children in motor vehicles. anesthesia.
PATHOPHYSIOLOGY Because of the possibility of intraoperative paranasal
Lab sinus bleeding Into the nasopharynx, laryngeal mas~
A blowout fracture of the orbital bones is postulated Drug and alcohol screening as indicated for
to occur through two mechanisms: anesthesia should be avoided. Instead, endotracheal
preoperative clearance for general anesthesia intubation for more complete airway protection is
-A blow to the globe and orbit momentarily
increases intraorbital pressure, causing dle ltlin Imaging recommended for all orbital fracture repairs.
bones of the orbital floor and/or medial wall to Initial approach The risks of surgery, induding visual loss, Infraorbital
"blowout" into ltle adjacent paranasal sinus. CT of the orbits with axial and ooronal images. hypesthesia, and persistent diplopia, which could
- A blow to the inferior orbital rim causes the orbital Coronal images are crucial for diagnosis. Sagittal require additional surgery or prisms, are discussed in
floor to buckle and break. into the maxillary sinus. images are optional. detail with the patient and parents. The option of
The bones of children have not fully cakif~ed and in Both bone and soft tissue windows should be conservative observation should be offered with
general are more pliable than those of adults. examined. WEBOFs are notoriously easy to miss on caution, since this may result in severe extraocular
- When a child sustains a blow to the periocular imaging without a high degree of suspicion because muscle fibrosis.
region, ltle thin bone of the orbital floor or medial often the trapdoor fracture snaps back into an The patient and parents should be aware that In the
orbital wall cracks and momentarily opens into the almost normal or normal position. immediate postoperative period, the diplopia may
adjacent sinus. The increased Intraorbital pressure If ltlere Is a suspidon of intracranial Injury, head CT worsen. Nausea and vomiting resolve almost
causes orbital fat and the adjacent extraocular should be obtained. immediately. Diplopia and extraocular motility
muscle to herniate into the fracture. A head CT is NOT equivalent to orbital CT and will typically talre weeks to months to improve or resolve.
- In adults, the fractured bone usually remains in not afford adequate views of the orbital bones. Issues for Refemll
placewithin the sinus. Because of dle pliability of Use of age and weight-adjusted CT radiation doses Urgent referral to the appropriate orbital specialist Is
pediatric bones, ltle fractured orbital bone in children to minimize rad'~ation exposure. indicated in all patients with WEBOF to optimize
immediately snaps back into position, much like a Avoid plain films. timing of surgical repair and minimize the possibility of
trapdoor on a hinged spring. Avoid MRI because of poor bony detail. posttraumatic strabismus and diplopia.
- This results in tight incarceration of the orbital soft
Follow-up lit special considerations SURGERY/OTHER PROCEDURES
tissue (fat and muscle), leading to Ischemic
No additional imaging is needed postoperatively Surgical exploration with release of the entrapped
contracture (Volkmann's contracture) of the
unless there is a question about the effectiveness of tissue
extraocular muscle.
the surgical repair or positioning of the orbital implant. Repair of the trapdoor fracture. If adequate
- The entrapped muscle limits ocular movement
with resultant diplopia (double vision). On Diagnostic Procedures/Other realignment of the fracture occurs with no evidence
attempted ocular movement, the child experiences If bradycardia and oculocardiac reflex are severe and of soft tissue herniation, an orbital implant may not
an oculocardiac reflex (Aschner phenomenon), a persistent cardiac monitoring may be necessary in a be needed.
316
FRACTURE, WHrTE-EYED BLOWOUT
In most cases. an orbital wa II defect is present after Clinical studies have shown that a significant delay
soft tissue release, potentially allowing for recurrent ONGOING CARE In surgical repair (>2 weeks) results In a higher
soft tissue entrapment. Ar1 orbital Implant (usually inddence of posttraumatic diplopia, which may not
an absorbable or nonabsorbable alloplastic sheet. FOLLOW-UP RECOMMENDATIONS be amenable to further correction--thus the mantra
based on surgeon preference) is placed to bridge the o Depending on su111eon preference. tlhe surgery can of u111ent su111ical repair of WEBOF.
defl!ct. be performed on an outpatient or inpatient basis. Since there is a possibility of persistent diplopia from
Most WEBOF repair can be performed o Patients are usually seen with in 1 week. following WEBOF even with timely repair, it behDDVI!s the
transconjunctlwl without a lateral repair. surgeon to minimize excessive delay In surgical
canthotomy/cantholysis. o Ophthalmic ointment is typically discontinued intervention. Most expertS agree that repair within
1-2 weeks following repair. 72 h of injury is reasonable.
o Systemic antibiotics and corticosteroids. if
Initial Stabilization COMPLICA110NS
prescribed, are usually discontinued within the first Initial misdiagnosis as concussion or "normal"
Full ophthalmic examination ID rule out intraocular 2 weeks following repair.
and optic nerve Injury orbital CT, which may delay deflnltlve treatment
o Iced or cold compresses are continued for the first
0 rblta llmaglng Persistent diplopia
2-3 days following repair.
Cardiac monitoring as indicated Optic neuropathy from intraoperative injury or
o lhe patient and his or her family are instructed ID
postoperative orbital hemorrhage
Admission Crlt.erl.a avoid any nose blowing. heavy lifting. exercise. or
Intractable nausea and vomiting sports activities for 2 weeks following repair. Air Persistent infraorbital dysesthesia (hypesthesia or
neuralgia)
Bradycardia or heart block travel Is avoided for 1-2 weeks following repair. If
essential, then the patient is instructed to use Enophthalmos or hypoglobus. Unllkely given the
IV Fluids intranasaI decongestants before takE-off and smaII size of the initial fracture
In many cases. patients with WEBOF have seere
nausea and vomiting from the oculocardiac reflex.
landing ID help equalize paranasal sinus pressure. lncisional scarring f
o lhe patient is given detailed instruction for Lid retraction or other eyelid malposition
Some patients present without oral intake since the Implant migration or extrusion
monitoring of visual function and ~ptoms of
initial trauma, which may have occurred several days
orbital hemorrhage. Postoperative Infection (Including sinusitis and
prior.
o An emergency mlephone number is clearly induded orbital cell ulltls)
Because of the possibi lily of dehydration, patients
in the instruction sheet in case of visual problems or
should be rehydrated preoperatively as indicated with
signs suggestive of orbital hemorrhage.
the assistance of a pediatridan or anesthesiologist
o lhe use of aspirin and related products may resume
REFERENCES
Nursing as needed 2 weeks after repair but should be 1. Bansagl ZC, Meyer DR. Internal orbital fractures In
Following fracture repair, most patients with WE BOF avoided 1n the ea~y postoperative period to reduce the pediatric age group. Characterization and
experience immediate relief of their nausea and the potential for orbital hemonflage. management Ophthalmriogy 2000;1 07:829-836.
vomiting. and oral intakE normalizes quickly. o If diplopia persists postoperatively. tlhe patient can
Antiemetics are typically not needed following 2. Egbert JE. May K. Kersten RC, et al. Pediatric orbital
occlude one eye with either a pi rate patch or with floor fracture. Direct extraocular musde involve-
surussful repair. adhesive tape over one lens of their glasses. ment. Ophthalmology 2000;1 07:1875-1879.
'There is a risk. of orbital hemorrhage with potential Occlusion amblyopla Is not a concern In patients
compressive optic neuropathy In any patient 3. Jordan DR, Allen LH, White J, et al. Intervention
older than 6 years. In children younger than 4 years, with in days for some orbital floor fractures: The
undergoing orbital surgery. VisuaI and pupillary care must be taker! ID avoid prolonged occlusion of
fu netion should be monitored over the first 12 hours whi!Hyed blowout. OphthaJ Plast Recrmstr Surg
one eye; in this age group. alternating occlusion of , 998;14:379-390.
pos!Dperatively. If the nursing staff is unfamiliar with each eye. on a daily basis is recommended.
examination techniques, then the physician should 4. Lane K, Pen ne RB, Bilyk JR. EvaIuation and
o A dilated fundus exam should be repeated at 6-12
assume these responsibilities. management of pedlatr1c orbltaI fractures In a
weeks to assure that there are no late peripheral primary care setting. OlfJit 2007;26:1 83-191.
Any excessive swell ing. pain, or bleeding should be retinal abnorma lilies.
reported to the physician immediately. 5. Parbh u KC, Galler KE, U C, et al. Underestimation
Frequent iced or cold compresses are essential
Patient Monitoring of soft tissue entmprnent by computed IDmography
o As already mentioned, postoperative diplopia and in orbital floor fractures in the pediatric population.
during the 1irst t2 hours following fracture repair ID
limited motility of the affected extraocular muscle is Ophthalmology 2008;115: 1620-1625.
deaease postoperative edema and pal n. Many
common after successful WEBOF repair. The patient
cllnldans recommend compresses 20 minutes on
and his or her family should be counseled about this
and 20 minutes off while the patient is awake.
0 ral or intermuscular narcotics for pain
probability preoperatively. . CODES
o No attempt at strabismus surgery should be made
management lhis is usually unnecessary following
for at least 6 mllfl1hs following WEBOF repair. In ICD9
most WEBOF rl!)lair.
most cases, If timely fracture repair was performed 368.2 Diplopia
Diplopia often persists for days, weeks, or months Initially, extraocular motility will Improve markedly
following WEBOFrepa lr and Is not an Indication of a 802.6 Closed fracture of orbItaIfloor (blow-out)
over the ensuing weeks to months and in many o 921.2 Orbital contusion
pos!Dperative complication. cases. diplopia will resolve completely.
Antibiotic ophthalmic ointment ID the conjunctivaI o After the initial postoperative follow-up visit. the
incision sill! patient is instructed to return 3-4 weeks later. If the CLINICAL PEARLS
Dischalfl8 Criteria diplopia has resolved, no additional therapy Is o WE BOF is often confused with concussion because
Resolution of nausea and vomIllng. vasovagal lndlcated. If dlplopla Is still present. then Initial of posttraumatic nausea and vomiting. Closely
complaints resolve almost immediately. If they strabismus pattern measurements are made utilizing check. and document ext111ocular motility in children
persist for more than 24 h pos!Dperatively, then prism bars and the patient is rechecXed at regular and young adults following blunt-force trauma ID
reexploration may be necessary to rule out inade- inte!Vills over the ensuing 6-9 months. the face.
quate initial release or postoperative reentrapment. WE BOF Is often dlfflcuIt to dlagnose on CT because
DIET
Resolution or marked decrease In pain with eye Regular, without restrictions of small fracture size and minimal bony
movement displacement. Carefully check coronal bone
No evidence of postoperative hemorrhage or optic PROGNOSIS windows for cracks in the orbital walls and coronal
neuropathy o If repaired in a timely fashion, the prognosis for
soft tissue windows for any distortion of the
Diplopia will be present pos!Dperatively in a WEBOF is excellent, with most patienu experiencing extraocular muscle contour.
significant proportion of patients. and it is not an complete resolution of diplopia in usefuI gaze
positions. Diplopia in extremes of gaze (typically If WEBOFis suspected dinically and radiographically,
Indication to delay discharge. do not delay referral for urgent surgical repair.
Most patients can be discharged home within 24 h upgaze) is usually Iff! untreated.
of WEBOF repair.
317
FUCHS' CORNEAL DYSTROPHY
Hall F. Chew
~ BASICS ETIOLOGY
Endothelial cell loss increases with age
Lab
Average endothelial cell density= 6000 cells/mm 2 Initial lab tests
DESCRIPTION in infants and 2400 cells/mm 2 in adults Slit-lamp examination (as mentioned in previous
Fuchs' corneal dystrophy is a progressive, bilateral, Significant reduction of endothelial cells after section)
noninflammatory condition characterized by tile intraocular surgery--especial~ cataract surgery. Ultrasound pachymetry to measure central corneal
development of focal excrescences of Descemet's Fuchs' patients already have compromised thickness
membrane with resultant guttae, loss of endothelial endothelial cells. Specular microscopy to measure endothelial cell
cells, and resultant stromal edema. See Figures 1-3. Loss of the endothelial layer's barrier function and counts, guttae, and levels of endothelial cell
The loss of tile ion transport system and barrier Na+tK+ -ATPase pump function leads to increased polymegathism and polymorphism
function of the compromised endothelial cell layer permeability of the endothelial layer producing
leads to progressive stromal edema and eventual Follow-up It special considerations
stromal and epithelial edema. Slit-lamp examination
formation of epithelial bullae.
Symptoms include glare and blurred vision worse COMMONLY ASSOCIATED CONDITIONS Ultrasound pachymetry
upon awakening. This may progress to pain, Cataracts Specular microscopy
photophobia and epiphora from erosions and Recurrent erosions from bullae Significant clinical findings require treatment using
rupture ofthe epitllelial bullae. Open-angle glaucoma hypertonic saline topical drop and/or ointment, or
Angle-closure glaucoma surgery
EPIDEMIOLOGY
Keratoconus (rare) Evaluation of cataract if present
Predominant gge: 5th and 6tll decades (exception=
Early-onset variant Fuchs' endothelial corneal Diagnostic Procedures/Other
dystrophy in first decade [rare])
Predominant sex: Females> Males, 3.5:1
~ DIAGNOSIS Confocal microscopy can identify and diagnose
endothelial cell findings in patients with severe
HISTORY corneal edema that precludes slit-lamp examination.
Incidence
Unknown. Any previous cataract surgery Pathological Findings
Any previous ocular surgery Diffusely thickened Descemet's membrane
Prevalence Glare, blurred vision worse upon awakening Anvil-shaped excrescences of basement membrane
4% of the population >40 years old. (guttae) within Descemet's membrane
Pain, photophobia, and epiphora from erosions and
RISK FACTORS bullae Paucity of endothelial cells
Patient age Past history of glaucoma or uveitis Varying degrees of subepithelial fibrosis and anterior
Raised intraocular pressure basement membrane changes
PHYSICAL EXAM
Ocular inflammation Full ophthalmic examination including measurement Bullous keratopathy neovascularization of the
Geneffa of intraocular pressure and dilated fundus epithelium may be present
Autosomal dominant inheritance, often with examination DIFFERENTIAL DIAGNOSIS
incomplete penetrance and asymmetric presentation B-scan ultrasound to rule out posterior segment Pseudophakidaphakic corneal edema
(1) pathology if unable to visualize secondary to corneal Posterior polymorphous dystrophy
Genetic locus: or lenticular changes Congenital hereditary endothelial dystrophy
- Fuchs endothelial corneal dystrophy (FECD) Slit-lamp examination shows: Macular dystrophy
13pTel-13q12.13, 15q, 18q21.2-q21.32 -In ear~ stages-central corneal guttae on direct Interstitial keratitis
- Ear~-onset variant FECD 1p34.3-p32 ilium ination and retroillumination
Central herpetic disciform keratitis
Gene: - Later stages-guttae spread peripherally, with a
- Early-onset variant FECD collagen type VIII, Alpha beaten metal endothelial appearance secondary Chandler's syndrome (iridocorneal endothelial
2-COLBA2 to increased pigmentation ofthe guttae, syndrome)
thickening of Descemet's membrane Corneal pseudoguttae from the following:
PATHOPHYSIOLOGY -Trauma
- Corneal edema is initially in the posterior stroma
Primary dysfunction of the endothelial cell layer - Intraocular inflammation
and also posterior to Bowman's membrane seen
causes abnormal production of Descemet's -Infection
best with sclerotic scatter.
membrane. -Toxins
-Worsening edema leads to folds in Descemet's
Descemet's membrane becomes 2-3 times thicker membrane. microcystic epithelial edema that
witll guttae excrescences of excess collagen visible coalesces and forms bullae.
witll PAS and H&E staining. - Peripheral superficial corneal neovascularization
Reduction in the number of endothelial cells, occurs in end stage Fuchs' as well as bullae
followed by variations in size (polymegathism) and formation.
shape (polymorphism) are characteristic.
The compromised endothelial cell layer leads to
progressive stromal edema and eventually formation
of epithelial bullae and corneal erosions.
In end stage disease subepithelial fibrosis. anterior
basement membrane changes. superficial
neovascularization of the cornea can occur
318
FUCHfCORNEALDYSTROPHY
Post keratoplasty:
. TREATMENT ONGOING CARE -Rejection
- Graft fa llure
MEDICATION FOLLOW-UP RECOMMENDATIONS -Glaucoma
RrstLine Depends on severity of disease -Astigmatism
Topical hypertonic saline (5%) drops (1 drop q.i.d.) Typically follow-up every 3-12 months - Anisometropia
and ol ntment (q.h.s. or If preferable q.l.d. Instead of In cases with ruptured bullae and epithelial defects. - Corneal uleer
drops). No contraindications. follow-up as In corneal abrasions - Wound dehlscerlce
Patient N1011ifloring -Uveitis
Second Une - Epitl1elial downgrowth
If pressure is elevated, add antiglaucoma Continued follow-up with complete ophthalmic
examination and slit-lamp examination - Retinal detad1ment
medlca11ons (see Glaucoma section). - EndophthaImitis
Ultrasound pachymetry and specular microscopy as
ADDITlONAL TREATMENT required
GetJerall'tfecuutes
Initial treatment is reduction af corneaI edema and PATIENT EDUCATION REFERENCES
pain relief. This is usually a slowly progll!Ssive cond ilion 1. Weiss JS, Moiler HU, Lisch W, et al. The IC3D
If epithelial bullae rupture, can manage witl1 a Primarily autosomal dominant dassification of the corneal dystrophies. Comea
therapeutic bandage contact lens. Risk. for corneal Hypertonic saline treatment can halt progression in 2008;27Suppl. 2:S26--S28.
ulcer is inaeased. most cases 2. Eghrari AO, Daoud YJ, Gottsch JD. Cataract surgery
Use a hair dryer on the eyes to dehydrate tl1e cornea. Hypertonlc saline topical drops cause s11nglng and in Fuchs' corneal Ettstrophy. CurrOpin O{iltha/mol
SurgicaI inll!rvention is required for visual patients should be reassured that this is normal to 2010;21 :15-19.
rehabilitation when tl1ere is significant reduction of maximize compliance 3. Lee WB, Jacobs DS, Musch DC, et al. Descemet's
I
vtslon that falls all medical therapy. Hypertonic saline topical ointment does not cause stripping endothelial keratoplasty: Safety and
stinging, but causes blur. It is ideally used at outcomes: A report by the American Academy of
Issues for Refe~l
bedtime or In eyes that already have slg nlllcantly Ophtl1almology. Ofiltha/molagy 2009;116:
Worsening vision
reduced vision 1818-1830.
Corneal uleer
If vision is worse in tl1e morning it is usually 4. Terry MA, Shamie N, Chen ES, et al. Endothelial
SURGERY/OTHER PROCEDURES attributed to Fuchs' dystrophy as corneal edema keratoplasty for Fuchs' dystrophy witl1 cataract:
Full-thickness penetra11ng keratoplasty (P KPJ Is increases while sleeping Compllca11ons and clinical results with tl1e new
required for compliant patients with advanced Patients with Fuchs' dystrophy undergaing cataract triple procedure. O,dltha/mology2009;116:
Fuchs' dystrophy who have centraI anterior scarring, surgery should be warned that there Is a higher 631~39.
anterior basement membrane changes, or probability of postoperative corneal edema that may
subepithelial fibrosis. require corneaI transplantation (keratoplasty)
In patients without central anterior stromal scarring Keratoplasty by itself will acc:elerab! cataract ADDITIONAL READING
or subeplthellaI flbrosls, an endothelial keratoplasty formation so if tl1e patient is still phakic, cataract
(EK) may be required, either Melles GR, 0 ng TS, Ververs B, fl aI. Descemet
extraction Ylith keratoplasty Is usually performed
- Descemfl's stJipping endothelial keratoplasty membrane endothelial keratoplasty (DMEK). Camea
(depending on surgeon's discretion)
(DSEK/DSAEK) 2006;2 5:!187-990.
- Descemet's membrane endotl1elial keratoplasty PROGNOSIS SUndin OH, Jun AS, Broman KW, et al. Linkage of
(DM EK)-rela11vely new procedure Fud1s' dtstrophy is a progf1!5Sive disease that late-onset Fuchs corneal dystrophy to a novel locus
worsens over time; however, the course is variable. at 13pTel-13q12.13./nvest Ophtha/mol Vis Sd
Compared with PKP, EK is preferred as recovery time
is less. less induced astigmatism, less chance for After any Intraocular surgery, endotheliaI cell loss 2006;47:140-145.
wound dehiscence. occurs. Weisenthal RW, Streeten BW. Posterior Membrane
Patients witl1 Fuchs' dystrophy and visually Prognosis after PKP is good with most patients Dystrophies, In: Krachmer JH, Mannis MJ, Holland
significant cataract may beneflt from cataract (>80%) with clear corneal transplants from 2 to EJ, (eds). Cornea, 2nd ed, 2005;938:9-4.'1.
surgery alone. or combined cataract surgery with 5 years after surgery, but long-term prognosis is not
keratoplasty (PKP or EKas in guidelines earlier.). as good.
-The current guidelines recommend a combined DSEKand DMEKare relatively new procedures. . CODES
cataract surgery witl1 keratoplasty be considered Results for DSEK at 12 months are excellent (98%
when the endothelial cell count is <1 ODOimm2 or > 20140) (3-4). ICD9
central corneal thickness Is >650 mm, although COMPUCATIONS 371.57 Endotl1elial corneal dystrophy
other clinical factors should be considered by the Painful bullous keratopathy
surgeon (2). CorneaI ulcera11on with Infectious kera1111s CLINICAL PEARLS
There is a hyperopic shift (+0.71 to+1.50 D)
following DSEK.. If planning a staged procedure with
cataract surgeiY first and a possible DSEK surgery in
tl1e future, tl1e intraocular lens power for cataract
surgery should be made more myopic in case a DSEK
is required.
319
FUCH'S HETEROCHROMIC IRIDOCYCLITIS
Anita P. Schadlu
Ramin Schad/u
~ BASICS
PATHOPHYSIOLOGY Cataracts develop in approximately% of eyes with
Most cases are associated with chronic rubella virus FHI (4).
infection. Glaucoma occurs in approximately 15% of eyes and
DESCRIPTION -The ocular inflammation associated with FHI is a may require surgical intervention (4).
Typically FHI is a unilateral chronic, recurrent local immune response driven by the rubella virus Abnormal bridging vessels in the anterior chamber
anterior uveitis that can be asymptomatic or cause antigen. A COS-positive T cell immune response angle may be seen on gonioscopy.
mild blurring and decreased vision. Recent articles mediates the inflammation (3). Vitreous opacities may be present, and can cause
have suggested a greater bilateral incidence than
ETIOLOGY visual symptoms. Chorioretinal scars may also be
previously reported. seen (2)
-The causative role of rubella virus in FHI has been Elevated levels of rubella antibodies (measured via a
modified Goldmann-Witmer Index) were identified - Posterior segment involvement is otherwise
established (3).
in the aqueous humor of 52 of 52 patients with FH 1 uncommon in FHI, although cystoid macular
-There is a high association of glaucoma and
(3). edema may be seen.
cataract with FHI.
The rubella virus (a singlestranded RNA virus) Peripheral anterior synechiae and posterior
Pediatric Considerations genome was identified in 5 of 28 specimens tested. synechiae are not typical for FH I.
The number of cases of Fuchs heterochromic Persistent virus genome is preferentially detected in DIAGNOSTIC TESTS & INTERPRETATION
iridocyclitis (FH I) has decreased among those born younger patients (3).
Lab
after introduction of the rubella vaccination program COMMONLY ASSOCIATED CONDITIONS Initial lab tests
in 1969 in the US. Parents of children diagnosed with Cataracts are present in approximately % of Clinical signs may be sufficient to make the
FHI should be questioned regarding vaccination patients with FHI. diagnosis of FHI. However, often the signs are not
history (1 )[A]. Glaucoma is associated with FH I in 15% of patients present at tile same time. A laboratory supported
(4). diagnosis may be made by detection of intraocular
Pregnancy Considerations rubella antibody (1 00% specificity). Absence of
Pregnant patients with clinical findings consistent witll
FHI should be tested for rubella immunity due to the ~ DIAGNOSIS rubella antibody in the aqueous humor makes the
diagnosis of FHI unlikely.
risk of congenital rubella syndrome, which is especially - Increased rubella antibody index (AI) (modified
HISTORY Goldmann-Witmer Index) is not specific when
serious when the virus is contracted during early Patients are typically young and often
pregnancy (2)[B]. asymptomatic.
<40. However in conjunction with clinical
findings. an increased AI has avery high positive
- Complaints may include progressive iris
EPIDEMIOLOGY predictive value.
heterochromia, unilateral mild visual disturbance,
Incidence mild ocular discomfort, and occasionally floaters. DligoclonallgG has 87% sensitivity for FHI and can
FHI accounted for less than 6% of all cases of - Eye pain and redness are rare. be used for screening of unspecified ocular
anterior uveitis in a tertiary care setting (1). inflammation (3)[A].
-The incidence of FHI decreased dramatically in PHYSICAL EXAM
patients born after 1968 due to the introduction Heterochromia is common (70% of patients) (4). Follow-up & special considerations
of the rubella vaccine in 1969 (1). -An affected dark. eye will appear Iighter due to iris FHI is a chronic disease. Patients must be followed at
atrophy. If the eyes are blue, the affected eye may regular intervals to monitor intraocular pressure and
Prevalence appear darker due to visualization of the cataract formation.
The prevalence is < 1%, but is likely underreported
underlying iris pigment epithelium. Imaging
due to the lack of symptoms, and minimal signs in tile
- Heterochromia will not be evident in bilateral External photos and slit lamp photos may be obtained
majority of patients. cases of FH I (6% of cases) (3). to monitor heterochromia, iris atrophy, and cataracts.
RISK FACTORS The affected eye typically is white and quiet on
Risk factors include no personal or maternal history external exam. Pathological Findings
of rubella vaccination, or coming from a country Infiltrating plasma cells and lymphocytes seen in
The characteristic diffuse, stellate nongranulomatous
without a rubella vaccination program. pathological specimens support viralinduced
keratic precipitates are ubiquitous, although may
- Due to the minimally symptomatic uveitis, patients inflammation as the etiology for FH I.
not be evident on presentation.
who do not receive regular examinations may
present with vision loss secondary to cataract
and/or advanced glaucoma.
Genetics
No genetic associations for FHI have been found.
GENERAL PREVENTION
Universal rubella vaccination is recommended.
320
RICH'S HETEROCHROMIC IRIDOCYCliTIS
DIFFERENTlAL DIAGNOSIS ADDITIONAL READING

Other causes of unilateral anter1or uveitis. ONGOING CARE
- Herpes Simplex Virus de Visser I., Braakenburg A. Rothova A. de Boer JH.
- Herpes Zoster Virus FOLLOW-UP RECOMMENDATIONS Rubella virus-associated uveitis: Clinical
-Toxoplasmosis Patients need regularly scheduled follow-up visits manifestations and visual prognosis. Am J
- Posner-Schlossrnan syndrome (glauromatocydltlc depending on the presence of glauroma and Ophtita/mo/200S;146:292-7.
crisis) cataracts. Since FHI is often asymptomatic, patients van Gelder RN. Idiopathic no more: Clues to the
Other causes a! iris heterochromia. may not notice recurrences.. pathogenesis of fuchs heterochromic iridocyclitis
- Horner's syndrome PATIENT EDUCATION and glaucomatocyelltlc crisis. Am J Ophtha/mol
- Malignant melanoma of the iris Patients should be educated on the need fur regular 2008;145:769-71.
follow-up and the importance of com pi iance with
glaucoma medications.
. TREATMENT . CODES
PROGNOSIS
MEDICATION Visual prognosis can be good, as long as glaucoma ICD9
Topical steroid treatment may be withheld if the and any posterior segment complications are 364.1 0 Chronit iridocyditis, unspecified
Inflammation Is mild. The effect of steroid eyedrops controlled.
in rontroll ing FH!-related inflammation is minimal, 364.21 Fuchs' heterochromic cyclitis
and may hasten calllract formation and cause 365.62 Glaucoma associated with OaJiar
serondary glaucoma. However, patients should be REFERENCES inflammations
manItored closely for worsen lng lnflammatlon. 1. Birnbaum AD, Tessler HH, Sdmlt:z KL. et al.
Secondary glaucoma should be treated aggressively Epldemlologlc relationship between fuchs
with topical drops and surgery, if indicated. CLINICAL PEARLS
I
heterochromic if!docyclitis and the United States
ADDITIONAL TREATMENT rubella vacd nation program. Am J Ofiltha/md Fuchs heterodlromic iridocyclitis is most commonly
Issues for Refeft'al 2007; 144:424-428. a unilateral, episodic anterior uveitis that can be
Patients in whom the intraorular pressure is nat 2. Rothova A. The ~ddle of fuchs heterochromic asymptomatic. It is often complicated by secondary
controlled with topical drops, or vmo have progressive LMitis. Am J Dphthalmol 2007;144:447-448. glaucoma and cataract formation.
visual field loss. should be ll!ferred to a glaucoma 3. Quentin CD, Reiber H. Fuchs heterochromic Rubella virus has been implicated as the causative
spedalist. Iridocyclitis: Rubella virus amlbodles and genome In antigen in FHI.
aqueous humor. Am J Ophtha/md 2004; 138:
SURGERY/OlliER PROCEDURES 46-54.
Cataract surgery and glaucoma surgery may be 4. Velllla S, DIDS E, Herreras JM, Calonge M. Fuchs'
complicated by intraopellllive or postoperative heterochromic if!docyclitis: A review of 26 cases.
hyphema due to the abnormal vessels bridging the Orullmmunol lrrffamm 2001;9:169-t75.
anterior dlamber angle (Amsler's sign).
- Perioperative topical and/or oraI steroid treatment
should be used to minimize surgery-induced
Inflammation.
- Posterior capsule opacification, glaucoma, and
vitreous opadty may Iimit visual outcomes
following cataract surgery (4).
Pars plana vitrectomy may be indicated to clear
visually-significant vitreous opaciti6.
321
GIANT CELL ARTERITIS
Helen Danesh-Meyer
Both the adaptive and innate immune systems have
been implicated.
PHYSICAL EXAM
AAION: Chalky white optic disc edema (unlike
nonarteritic anterior ischemic optic neuropathy
DESCRIPTION The acute-phase response mediated by the innate [NAIONI. which shows a hyperemic swollen optic
Giant cell arteritis (GCA) is also known as temporal immune system is responsible for the systemic nerve), at times associated retinal edema. This
arteritis or granulomatous arteritis. inflammatory component of GCA. produces abnormalities in optic nerve function: .
It is a systemic inflammatory vasculitis that affects lnterleukin-6 being is critical by stimulating the relative afferent papillary defect, dyschromatopsia,
medium-sized to large arteries. production of acute-phase proteins. decrease visual acuity, visual field defect.
Arterial wall inflammation leads to luminal occlusion Circulating monocytes are a major source of - Central retinal artery-Note the lack of an
and tissue ischemia, which cause the clinical interleukin-6; however, the mechanism and site of embolic plaque in artery. Also, there is no sparing
manifestations of this vasculitis. monocyte activation in GCA are unknown. of the cilioretinal artery.
Vision loss is a frequent complication of GCA, and - Diplopia due to 4th, 6th, or 3rd cranial nerve
Inappropriate activation of the adaptive immune
once it occurs it tends to be both permanent and system by dendritic cells is thought to cause the ischemia.
profound. vascular lesions seen in GCA. - Changes in temporal arteries: Loss of pulse. tender
Bilateral involvement is not uncommon. to palpation.
Both Tcells and macrophages are attracted to the
Causes of visual loss include arteritic anterior vessel wall via the vasa vasorum. DIAGNOSTIC TESTS & INTERPRETATION
ischemic optic neuropathy (AAION), central retinal In the adventitial layer, selective clonal expansion of Lab
artery occlusion, posterior ischemic optic CD4+ T cells leads to the release of cytokines such There is no single clinical symptom, sign or
neuropathy, ocular ischemic syndrome, cilioretinal as interferon gamma (IFN-y), which recruit laboratory test specific for GCA.
artery occlusion, and branch retinal artery occlusion. macrophages into the vessel wall to form a Westergren erythrocyte sedimentation rate
EPIDEMIOLOGY prominent granulomatous reaction. (WESR): Approximately 80% of patients with GCA
Incidence Intimal hyperplasia, tissue ischemia and luminal will have elevated ESR. But ESR is a nonspecific
GCA predominantly affects Caucasians over occlusion also occur. indicator of inflammation and can also be increased
50 years of age, with women affected at least twice in malignancy, infection, connective tissue disorders,
ETIOLOGY
as often as men. trauma, anemia, and hypercholesterolemia.
The exact etiology of GCA is unknown, a variety of
Overall incidence is 15 to 25 per 100,000/year in infectious agents have been suggested as potential Normal" ESR is present in up to 17% of diagnosed
individuals over the age of 50 years; however, immune triggers for the disease, including herpes cases, and thus cannot be used to exclude GCA.
incidence increases with age: from 2.3 per virus, parainfluenza virus, cytomegalovirus, parvovirus WESR increases with age. Upper limit is and has
100,000/year among patients in their 6th. deca.de of B19, chlamydia, and mycoplasma. been defined as the age divided by two for men,
life, to 44.7 per 100,000/year among patients 1n and the age plus 10 divided by 2 for women.
their ninth decade and older. COMMONLY ASSOCIATED CONDITIONS Creactive protein (CRP) is an acute-phase
Giant-cell arteritis and polymyalgia rheumatica protein. An elevated CRP has a specificity of up to
GCA is more frequent among people of frequently occur together in the same patient.
Scandinavian and Northern European descent, 97.5% in patients with GCA, and may be elevated
Polymyalgia rheumatica is a systemic inflammatory in the presence of a normal ESR. CRP is considered
irrespective of their place of residence.
disease that manifests as myalgias of the neck, to be more sensitive than an elevated ESR.
There is some evidence to suggest an inherited shoulder, and pelvic girdle.
component. ESR and CRP together have higher sensitivity
than either individually.
Genetics
Some studies have found an association with ~ DIAGNOSIS Other tests: Elevated platelet count, normochromic
normocytic anemia, fibrinogen, interleukin-6 (IL-6)
HLADR4 haplotype and 60% of patients express
HISTORY and a2- and fJ-globulins have been found in GCA.
the B1"0401 or B1"0404/B variant of the HLADR4
Patients should be specifically interrogated for the Imaging
haplotype.
following symptoms: Fluorescein angiography may show prolonged
The intercellular adhesion molecule 1 (ICAM-1)
genes may also predispose to GCA. ICAM-1 is Constitutional: Poor appetite, weight loss, fatigue, choroidal and central retinal arterial filling times.
night sweats, general malaise, fever or unknown and choroidal nonperfusion or filling defects
strongly expressed in the inflammatory infiltrate of
origin. suggestive of MION.
the temporal artery in GCA and G/R 241
polymorphisms in the ICAM-1 gene are associated Symptoms associated with polymyalgia rheumatic: Ultrasonography of affected arteries is a may
with GCA susceptibility. stiff and painful shoulder, girdle muscles. demonstrated changes in the arterial or be used to
Symptoms associated with arteritis of carotid track the arterial course prior to biopsy.
GENERAL PREVENTION arteries and their branches: Headaches that are
Prevention of visual loss depends on early diagnosis Diagnostic Procedures/Other
new and severe. Scalp tenderness. or direct
with adequate and timely intervention. Temporal artery biopsy (TAB) is the gold
temporal artery tenderness. Jaw claudication
standard for the diagnosis of GCA and should be
(highly specific for GCA). Less frequent are tongue
performed on all patients in whom the diagnosis of
claudication, facial pain.
GCA is suspected.
Visual symptoms: Transient visual loss, diplopia,
Histological confirmation is recommended since
sudden visual loss. graying of vision, eye pain.
long-term corticosteroid treatment is not without
Ocular involvement without the presence of other complications.
GCA symptoms, or occult GCA, occurs between 5
TAB should never delay the instigation of treatment.
and 38%.
TAB should be performed within one wee~ of
initiating systemic corticosteroids; however.
histological evidence remains up to 6 weeks
following treatment.
Minimum length of 20 mm should be obtained to
avoid s~ip lesions.
lfthe TAB result is negative and the suspicion of
GCA is high, a contralateral TAB should be
performed.
322
GIANT CELL ARTERITIS
Patholog/GIJ Findings REFERENCES

GCA Is characterized by granulomatous ONGOING CARE 1. Danesh-Meyer HV, Savino PJ. CurrOpn
inflammation affecting all layers of medium-sized
and large arteries that hiM! an internaI elastic FOLLOW-UP RECOMMENDATIONS Ophtha/mo/ 2007; 18(6):443-449.
lamina. Syst8mk Steroid Dosage 2. Nlederkohr RD. Levin LA Management of the
The Inflammatory Infiltrate Is composed of activated Most patients will remain on oral prednisone patient with suspected temporal arteritis. A
CD4+ T cells. macrophages. and giant cells. 1 mWkg for a minimum of 4 weeks after whidl dedsion-analytit approach. Ofhthalmalogy
Giant cells are not necessary for a diagnosis of GCA. steroids should be tapered on the basis of symptoms 2005;112:744--756.
Luminal stenosis or occlusion may be visualized due and serial monItoring of Inflammatory markers. 3. Piggott K. Biousse V, Newman NJ, Goronzy JJ,
ID intimaI hyperplasia and subsequent mural The rate of steroid taper is about 10 mg per month Weyand CM. Vascular damage in giant cell arteritis.
thkkening secondary to myofibroblast migration and initially (or 10% of the total daily dose every AutrJimmunity 2009;42(7):596-604.
proliferation. 1-2 wee Its), then decreased ID 5 mg per month, 4. Weyand CM, Goronzy JJ. Medium and large-vessel
Skip lesions or segments of uninvolved regions and even as low as 1 mg per month. once a dose of Yasculitis. N Engl Med 2003;349:160-169.
adjacent ID areas of inllammation are common. 10 or 15 mg per day is reached.
Most patients will require treatment for a minimum
DIFFERENTIAL DIAGNOSIS of 1 to 2 years. ADDITIONAL READING
NAION. Patients will need continued treatment with bone Danesh-Meyer H, Savino PJ, Gamble GD. Poor
sparing agents, proton pump inhihitors and prognosis of Yisual outcome after YisuaI loss from
. TREATMENT management of diabetes, and other possible giant cell arteritis. Ofhthalmalogy 2005;112:
complications of corticosteroid use. 1098-1103.
The goal of treatment is ID pri!VI!nt ongoing isrnemic Pathmt Monitoring Foroozan R, Deramo VA. Buono LM, et al. Recovery
damage. If the visuaI loss is the major symptom, the In most GCA patients with ESRICRP elevation, It can of visual function in patients with biopsy-proven
aim is ID halt the progression of visual loss in the be used accurately to monitor disease activity along giant cell arteritis. Ofhthalmalogy 2003;11 0:
affected eye and prevent involvement of the with patients' symptoms. 539-542.
contralateral~- Danesh-Meyer HV. Giant cell arteritis: A medicaI
PATIENT EDUCATION
MEDICATION Patients should be educated about the side effects emergency. New Zealand Medical Journal
2008;23: 10-13.
I
FlrstUne of corticosteroid use.
Systemic corticosteroids are the maInstay of Relapses are associated with a recurrence of
treatment. Intravenous methylprednisolone 1 g/d, symptoms or a ~se In ESRICRP. They are most
usually for a minimum of 3 days. is recommended if common in the first 18 months, with a median time . CODES
there is visual loss. of around 7 months. Patients should be educated to
Hlgh-<lose oral prednisone 1 mWkg for GCA without contact their doctor ~ they have any recurrence of ICD9
visual symptoms. their GCA symptoms. 362.31 Central retinal anery occlusion
Improvement of systemic symp!Dms usually occurs 377.41 lsdlemic optic neuropathy
PROGNOSIS
within 24-72 hours after Initiation of therapy, but The prognosis for lltsual recovery Is poor. 446.5 Giant cell arteritis
normalization of ESRmay take several weeks. Progressive visual loss may occur despite the early
SecondUne institution of high-dose corticosteroid treatment.
Methotrexate has been shown to have some benefit VIsual deterioration occurs In about 27% of~
CLINICAL PEARLS
as a steroid-sparing agent. despite high-dose intravenous methylprednisolone. The most common reason that GCA leads to
ADDITIONAL TREATMENT The greatest risk of visual deterillllltion is in the first blindness is failure of early diagnosis. The key to
GerHNlll MNsul'ffS 6 days. dlagnosIs Is havl ng a high Index of susplclooln
Elderly patients being treated with high-dose Treatment with intravenous corticosteroids is patients older than 50 years of age. The visual
prednisone should be admitted to hospital. effective in reducing the lilcelihood of fellow eye symptoms indude transient visual blurring. diplopia,
involvement. Withouttreatment the risk offellow and acute vlsuaI loss In one or both ~.
lssws for Reffm11f eye Involvement Is 54 to 95% Most common cause of blindness from GCA is
A referral to a generaI physician should be made for arteritic anterior ischemic optic neuropathy that
pri!VI!ntion and management of potentiaI COMPLICATIONS
presents with sudden loss of lltslon and pallid disc
complications of long-term high-dose corticosteroid Causes of mortality associated with GCA indude
cardiovascular, neurological, and gastrointestinal edema.
treatment. Once the dinician suspects GCA, the patient should
These include diabetes, IDSS of hone density, GI events. vasculitis of the coronary arteries may result
in myocardiaI infarction or congestive heart failure. be started immediately on high-dose corticosteroid
disturbanc:e, mood alteration, difficulty sleeping. treatment while the Investigative process Is
Ischemic brain damage Is the second most common
Additional Therilp;.s cause of GCA-related death i!lter cardiac disease. underway.
Bone maintenance treatments: Calcium, vitamin D, Necrotizing segments of bowel are uncommon, but Temporal artery biopsy (TAB) is considered the
bisphosphonates. This needs to be managed in can also be fatal. reference standard for the diagnosis of GCA.
consultation with general physldan.
Gl disturbanee: Patients are often treated with
proton pump inhibitors (omeprazole) to prevent Gl
disturbanc:e.
Sleep difficulties: Patients may need additional
medication to assist with sleeping.
323
GOlDENHAR SYNDROME
Anam Qureshi
Jonathan H. Salvin
~ BASICS
Hemifacial microsomia (1)[C]. Lab
Cardiovascular, nervous, musculoskeletal, and None, if no other systemic findings.
DESCRIPTION urogenital abnonmalities. Appropriate laboratory testing if genitourinary
Goldenhar syndrome is part ofthe Nasal abnonmalities. involvement.
oculoauriculovertebral spectrum (OAVS).
Hearing loss/deafness. Imaging
Characterized by epibulbar choristomas. preauricular Torticollis due to vertebral anomalies.
appendages. vertebral anomalies, and hemifacial Initial approach
Neurologic and facial imaging as indicated.
~ DIAGNOSIS
microsomia (1)[C].
Cervical spine imaging.
EPIDEMIOLOGY Follow-up It special considerations
lnddence HISTORY Monitor for amblyopia.
1 in 3500 to 5600 births (2)]C] Family history.
Male predominance (3:2) Diagnostic Procedures/Other
PHYSICAL EXAM Audiology evaluation
Prevalence Full ocular examination Genetics consultation
Unknown. - limbal, ipsilateral, inferotemporal epibulbar Renal ultrasound as indicated
RISK FACTORS dermoid (most frequent ocular sign); may have
protruding cilia and induced astigmatism (2)]C]. Pathological Findings
None definitively identified. Epibulbar denmoids consist of collagenous connective
-lipodermoid typically found temporally (2)[C].
Genetics -Assess for ocular motility disorders, especially tissue covered by conjunctival or corneal epithelium
Most cases are sporadic. Duane syndrome (1 )[C]. with possible epidermal appendages.
Autosomal dominant (often bilateral auricular - Examine for other signs: Upper eyelid coloboma DIFFERENTIAL DIAGNOSIS
involvement) and autosomal recessive have been with possible adhesion to the globe, Treacher-(ollins syndrome
reported (3)]C]. blepharoptosislshortening of palpebral fissure Pierre Robin syndrome
Chromosomal aberrations have been reported (uncom man), lacrimal drainage system anomalies
(1)]C]. Cervico-oculo-acusticus syndrome
including chromosome 5p terminal deletion and
del22q11.2 (4)[C]. - Evaluate for corneal anesthesia, decreased tear Town-Brocks syndrome
At least 4 specific loci and 1 identified gene, SALL 1 production, neuroparalytic corneal ulcers Oculoectodermal syndrome
gene (16q12.1). (uncom man) (6)[C].
-Assessment of vi sua I function as induced
PATHOPHYSIOLOGY astigmatism can frequently cause amblyopia
Congenital disorder; see Etiology section. (2)]C].
ETIOLOGY - Facial examination for preauricular appendages,
Impaired migration of neural crest cells resulting in hemifacial asymmetry, and microtia (1)[C].
anomalies of 1st and 2nd branchial arches (5)[C]. -Microphthalmia with or without hypoplasia of
Ocular manifestations second to anomalous optic nerve and macula (uncommon) (5)[C].
formation of first branchial arch, maxillary division - Caruncle may be absent or ectopic.
(2)[C]. Full systemic exam for other associated findings.
324
GOLDENHAR SYNDROME
3. Vendramini-Pittol i S, Kokitsu-Na lcata NM.

. TREATMENT ONGOING CARE Ocu loaurlculovertebral spectrum: report of nine
familial cases with evidence of autosomal
MEDICATION FOLLOW-UP RECOMMENDATIONS dominant inheritance and review of the literalllre.
None for the primary disorder but may need for o As needed for secondary complications. cnn Dysmorphol 2009;18(2):67--77.
secondary complicatians. o Monitor for amblyopia, full refractive correction and 4. Ala-M ella S, Siggberg 1... ICnuutila S, Von Koskull H,
symptoms requiring excision of limbal dennoid. Taskinen M, Peippo M. Further evidence for a
ADDITIONAL TliEATMENT
PATIENT EDUCATION relationship between the 5p15 chromosome ll!gion
Genwal MNsur.s and the ocu loaurlculovenebral anomaly. Am 1 Med
Amblyopia treatment as indicated. Genetlc counseling
o Appropriate educational services for hearing Genet 2008;146A:2490-2494.
Issues for Reffmilf impainnent 5. Margolis S, Aleksic S, Charles N, McCarthy J, Greco
Craniofacial/plastic surgery evaluation fur cosmetic A, Budzllovlch G. Retinal and optic nerve flndlngs
repair. o Goldenhar Syndrome Support Network Sodety,
http://barbmiles.tripod.com/ in Goldenhar-Gorlin Syndrome. OJilthalmology
o Otolaryngology eva Iuation for external ear and 1984;91(11):1327--1333.
o Goldenhar Family Support Group (UK),
audiology testing. 6. Baum JL, Feingold M. Ocular aspects ofGoldenhar's
http://Www.goldenhar.org.uk/
o Genetics for diagnosis, testing, and counseling. syndrome. Am 1 OJilthalmo/ 1973;75(2):250--257.
o AboutFace, http://www.aboutfaceinternational.org/
Surgical excision of limbal dermoid indicated for PROGNOSIS
cosmetic reconstruction, presence of syrn ptoms Ocular prognosis Is good If am blyopla treated. 8 coDE5
(redness, foreign body sensation), induced COMPLICAnONS
astigmatism causing amblyopia, secondary corneal o Corneal del len, exposure or ulcer ICD9
complications (1 )[C]. Amblyopia o 224.3 Benign neoplasm of conjunctiva
o Excision of lipodermoid with caution due to o 367.20 Astigmatism, unspedfled
extraowlar musde involvement o 756.0 Congenital anomalies of skull and face bones
Eyelid repair REFERENCES
o Craniofacial/plastic surgery fur fadaI malfonnations
1. Mansour AM, Wang F, Henkind P, Goldberg R, CLINICAL PEARLS
I
IN-PATIENT CONSIDERATIONS Shp~ntzen R. Ocular findings In the facloaurl-
Initial Stabilization culovertebral sequence (Goldenhar-Go~in Carefully evaluate patients with eplbulbar dermolds
In-patient care only required for nonocular Syndrome).Am1 Optha/mol 1985;100(4): for Goldenhar syndrome.
assodations. m--559. o Refer fur fu II systemic workup with a focus on
2. Caca I, Unlu K, MS. Two cases of goldenhar cardiac, renal, vertebral, and cenlr.ll nervous system
syndrome. 1Pediiltr Optha/mol Strilbismus abnomnalities.
2006;43:107--109. o EvaIuate and treat astigmatism early as a potential
cause of amblyopia.
o EvaIuate for hearing loss.
325
GRANULOMATOUS UVEITIS
Chirag Patel
Jeffrey L. Olson
Naresh Mandava
Scott C.N. Oliver
Lens: Lenticular precipitates may be visible on the
anterior lens capsule. Posterior subcapsular cataracts
may be present if the patient has had repeated
DESCRIPTION HISTORY episodes of iritis or ongoing chronic inflammation.
Nonspecific term describing intraocular Review all medical conditions, surgeries, and ocular Vitreous: lnflam matory cells in the vitreous imply
granulomatous inflammation. history. involvement of the posterior segment. Aggregation
Symptoms may include painful red eye. photophobia Obtain a complete and detailed review of systems of cells in the vitreous are called snowballs.
and decreased vision. Goint pain, rashes, shortness of breath, swollen Posterior segment: Optic nerve edema, sheathing of
Classically presents with large b!ratic precipitates lymph nodes, recent headaches. hearing difficulties. venules or arterioles. focal retinal and choroidal
(KPs) on the corneal endothelium (mutton-fat KPs). hair loss. pigmentary skin changes, history of ocular lesions. and exudative retinal detachment may be
Inflammation can involve only the anterior eye trauma, recent insect bites. sexually transmitted present.
(iritis). vitreous (intenmediate uveitis), retina and/or diseases, tuberculosis exposure, pet or animal
choroid (posterior uveitis), or the entire eye exposure, and recent travel). DIAGNOSTIC TESTS & INTERPRETATION
(panuveitis). PHYSICAL EXAM Lab
The patient's medical history, review of systems and
More commonly associated with systemic disease or Vision: May be unchanged or decreased depending
physical examination should guide the laboratory
underlying ocular syndrome than nongranulomatous on amount of inflammation.
evaluation.
uveitis. Intraocular pressure (lOP): Usually decreased
Can be unilateral or bilateral because inflammation of the ciliary body causes All patients who present with granulomatous uveitis
should receive a diagnostic evaluation even if it is
Can be acute or chronic decreased production of aqueous humor. Increased
lOP may suggest a viral etiology or secondary their first episode.
May occur at any age As a minimum, CBC with differential and fluorescent
glaucoma from chronic disease.
RISK FACTORS treponema! antibody absorption (FTA-ABS) or other
External findings: Enlarged lacrimal glands, enlarged
Geographic location (e.g., endemic areas for Lyme parotid glands. and cranial nerve seven palsy may specific antitreponemal syphilis serology should be
disease) suggest sarcoidosis. ordered.
Exposure to animals (e.g., cats for toxoplasmosis) Conjunctiva: Generalized redness ofthe bulbar The following tests should be considered based in
Ethnicity (e.g., sarcoidosis more prevalent in African conjunctiva may be present. The eye may have a the history:
Americans and Scandinavians) - Purified protein derivative (PPD) test or gold
perilimbal injection termed ciliary flush. Perilimbal
Prior injury to fellow eye for sympathetic ophthalmia vitiligo (Sugiura sign) is a sign of VKH disease, quantiferon testing for TB.
Disruption of lens capsule (traumatic or surgical) for -ACE and lysozyme can be obtained if sarcoidosis is
occurring within a month of disease onset.
lens associated uveitis suspected.
Cornea: KPs are found on the endothelium and are
- Lyme serology
Geneffa clusters of white blood cells (WBCs) usually located
-Toxoplasmosis lgG and lgM by ELISA
Associated diseases may have genetic markers (e.g., in the lower half of the cornea. Classic mutton-fat
- Antineutrophil cytoplasmic autoantibodies
HLA-DR1 and HLA-DR4 for VKH). KPs are large and greasy in appearance.
(ANCA): c-ANCA is found in BD-9 5% of active
Anterior chamber: Cells and flare are usually cases of Wegener granulomatosis.
PATHOPHYSIOLOGY present.
Exact pathophysiology unknown - PCR may be obtained for HSV 1, HSV 2, VZV.
May result from an autoimmune reaction Cells floating in the anterior chamber are found with CMV. and toxoplasma.
May depend on the host's immune response to a anterior segment inflammation. They can be graded Imaging
systemic infectious process under high-magnification slit lamp examination in a Initial approach
1 x 1 mm field of light as described by The SUN If media opacity blocks the view of the posterior
EnOLOGY Working Group Grading Scheme (1)[A]. segment Bscan ultrasonography may identify
Idiopathic in 50% of cases -0<1 exudative detachment, subretinal granulomas. and
May be associated with a number of systemic -0.5 = 1-5 cells optic nerve edema.
conditions or infectious processes -1+ = 6-15 cells Fluorescein angiography may identify vasculitis,
COMMONLY ASSOCIATED CONDITIONS - 2+ = 16--25 cells papillitis, and choroiditis.
Sarcoidosis - 3+ = 26--50 cells lndocyanine green angiography may demonstrate
Syphilis - 4+ = More than 50 cells defects of the choroid with greater detail than
Herpes zoster virus Flare is the result of extra protein in the aqueous. It fluorescein angiography.
can be graded using the SUN Worlcing Group Chest radiography may identify hilar adenopathy
Herpes simplex virus
Grading Scheme: associated with sarcoidosis and tuberculosis.
Cytomegalovirus
-0 =None Follow-up ll special considerations
Lens associated uveitis -1+ =Faint
Lyme disease If chest radiography is equivocal, a chest CT or gallium
- 2+ = Moderate (iris and lens details clear)
scan can be considered if sarcoidosis is strongly
Toxoplasmosis - 3+ = Marked (iris and lens details hazy)
suspected.
Vogt-Koyanagi-Harada (VKH) disease - 4+ = Intense (fibrin or plastic aqueous)
Sympathetic ophthalmia Iris: Peripheral anterior synechiae and posterior Diagnostic Procedures/Other
Tuberculosis (TB) synechiae may be present. Inflammatory nodules on Lacrimal gland or conjunctival nodule biopsy is highly
the iris represent accumulations of inflammatory specific for sarcoidosis if positive.
Leprosy
Wegener granulomatosis cells. They can be present in the pupillary border, the Pathological Findings
Coccidioidomycosis iris surface or the anterior chamber angle. Histopathology classically shows epithelioid and giant
Brucellosis cells.
326
GRANULOMATOUS UVEITIS
DIFFERENTlAL DIAGNOSIS SURGERY/OTHER PROCEDURES REFERENCES

Endophthalmltls
Patients with chronic or rea~rrent episodes of 1. Jabs DA, Nussenblatt RB, Rosenbaum JT.
lntraowlar lymphoma weitis may be candidates for a fluocinolone
o Chronic retina I df!achment
Standardization of uveitis nomenclature for
(Retisert) implant (3)[8]. reporting dinical data: Results of the First
Phacoanaphylactic glaucoma
Treatment with steroids may cause a cataract International Worlcshop; Standardization of Uveitis
rJ TREATMENT
MEDICATION
resulting in the need for catar.~ct extraction and
intraocular lens implanllltion.
Ocular hypertension unresponsive to topical
medications may require a trabecu lectomy or valve
Nomendature (SUN) Working Group. Am J
Ophtha/mol 2005; 1-l:509-516.
2. Jabs DA, Rosenbaum JT, Foster CS, et al. Guidelines
for t11e use of Immunosuppresslve drugs In patients
First Line implantation. with ocular inflammatory disorders;
o Topical corticosl!!roids (e.g., prednisolone acelllte), Pars pia na vitrectomy may reduce the severity of Recommendations of an expert panel. Am J
should be used aggressively initially and tapered poster1or weltls In some cases. Ophtha/mo/2000; 130(4):492-513.
with response to treatment. IN-PATIENT CONSIDERATIONS
3. Jaffe GJ, Martin D, Callanan D, et al. Fluodnolone
o Cycloplegic agents (e.g., cyclapentolate or acetonide implant (Retisert) for noninfectious
homatropine) should be used to treat pain and Admission Criteria posterior uveitis: Thirty-four-week. results of a
Usually not required if inflammation only affects the multlcenter randomized clinical study.
photophobia and to prevent Iris synechIae.
eye. Ophthalmology 2006;113(6):1020-1027.
Patients with a known etiology for tl1eir
Rarely may be indicated for treatment of systemic
inflammation (e.g., tubertUiosis or toxoplasmosis)
should be treated for the underiying cause in Infectlons such as neurosyphilis. or for
addition to steroids and cycloplegic agents.
administration of IV medication, such as gandclovir ADDITIONAL READING
or acyclovir for viral retinitis.
S011d Une Nusenblan RB, Whltt.\Jp SM. Uvellfs: Fundamef/Ws
After exdudlng Infectious etiologies, oral, or and Clinical Practice, 4111 ed. Philadelphia, PA:
periowlar steroid may be required if inflammation ONGOING CARE Mosby, 2010.
does not adequately respond to topicaI steroids.
Mid- to long-term oral steroids use should be Patients should be followed closely, and steroids
accompanied by supplementary calcium and vitamin iJ coDES
I
should be tapered slowly as inflammation resolves.
D to redlJ(e tl1e risk. of osl!!oporosis.
Prophylaxis against peptic ulceB should be Patient Monitoring ICD9
considered using H2 blocl:ers or proton pump Once inflammation has resolved patients should be 360.12 Panuveltls
inhibitors when systemic steroids are administered. seen at regular Intervals Ill monitor for recurrences. 363.21 Pars planitis
lmmunomodulatOIY and immunosuppressive agents PATIENT EDUCATION 364.1 0 Chronic iridocyditis, unspecified
may be considered In patients unresponsive to Patients should be educated about signs and
steroids or in p;~tients needing long-term symplllms of flare ups of Inflammation so tl1ey can
immunosuppressive (>3 mths) treatment (2)[A]. rflum for prompt treatment. CLINICAL PEARLS
lntravltreal steroid (e.g., t~amdnolone acetonlde 4 The often chronic or rerurrent nature of
granulomatous uveitis should be explained to the Patients witl1 granulomatous uveitis should undergo
mg in 0.1 on3 ) may be adminisl!!red for severe a workup for systemic infectious and inflammatory
cases. Risk ohataract and ocular hypertension must patient.
etiologies.
be discussed. Infectious etiologies must be ruled out The possibi lily of irreversible vision loss and even
loss of the globe in the setting of untreated disease Aggressive anti-inflammatory tl1erapy should be
prior to admInlstratlon of Intraocular steroid. applied to suppress inflammation.
should be explained to the patient.
ADDITIONAL TllEATMENT VIsion th reatenlng complications may occur from
PROGNOSIS uncontrolled uveitis.
Gemtral frfNSUI'ti
Patients may develop increased intraocular pressure Many patients will have recurrent episodes of
which should be treated with topical lOP lowering Inflammatlon.
drops. Visual prognosis is good in the absei'Ke of cataract.
glalJ(oma or CME.
lssws for Refwral
o All patients who need long-temn treatment with oral COMPLICATIONS
steroids should be followed by a primary care Cataract
provider Ill monltor blood sugars, blood pressure, Glaucoma
and bone densitometry. Cystoid macular edema
o All patients who require imm unomodulatory or Exudative retinal dflachment
immunosuppressive agents may be refemed to a RPE atrophy
rheumatologist for initiation and management of Band l:eratopathy
tl1erapy.
If an underlying etiology for inflammation is
identified, an appropriate consu Italian should be
made to treat tl1e systemic cond ilion {e.g .
pulmonology for sarcoidosis. infectious disease for
TB).
Elevated intraocular pressure may necessitate a
referral to glaucoma specialist.
Development of cystllld macular edema (CME) may
necessitate a referral Ill a vitreoretinal spedalist.
o Uncontrolled or persistent inflammation requires
referral to a uveitis speda list.
327
GUIUAIN-BARRE SYNDROME AND FISHER SYNDROME VARIANT
Mark L. Moster
lm mune inflammatory demyelination of peripheral
nerve.
Ophthalmoparesis may have both peripheral and
central nervous system features including:
combinations of 3rd, 4th, 6th nerve paresis,
DESCRIPTION - Perivascular inflammatory infiltrates symmetric patterns that do not fit one nerve or
A syndrome of acute inflammatory demyelination of -Axonal involvement may occur muscle, internuclear ophthalmoplegia, vertical gaze
peripheral (including cranial) nerves. Wallerian degeneration palsy, nystagmus, and other supranuclear patterns.
Spectrum includes typical Guillain-Baml syndrome GBS (especially FS) is the most common cause of
(GBS, also known as acute inflammatory ETIOLOGY complete bilateral ophthalmoparesis.
demyelinating polyneuropatlly; AIDP). Fisher Exposure to antigen with generation of autoimmune
BBE includes ophthalmoparesis, ataxia, impaired
syndrome (FS), and Bickerstaff Brainstem response.
consciousness and hyperreflexia
Encephalitis (BBE) and some other variants COMMONLY ASSOCIATED CONDITIONS Many patients have mydriasis with poor pupillary
Often postinfectious Antecedent infection in 2/3 of patients. light reaction. Light near dissociation may occur.
~ DIAGNOSIS
ALERT
Ascending paralysis in GBS may be rapid and lead Lab
to respiratory failure. Close monitoring is imperative. lumbar Puncture-"albumino-cytologic
HISTORY dissociation -elevated protein with few WBCs.
Acute weakness May take a few days until protein elevates.
EPIDEMIOLOGY
Most often beginning in distal lower extremities and Electromyography-peripheral neuropathy with
Incidence ascending over hours to days
GBS: 0.6-4/100,000 demyelinating and sometimes axonal features.
Variable numbness AntiGO 1b antibody---i!specially elevated in FS
FS accounts for 1-7% in western countries but up
Often ascends to involve cranial nerves with facial (> 85%). Clinically correlates with ophthalmoplegia
to 25% in Japan.
droop, ptosis, diplopia and ataxia.
Men> women
FS presentation--<liplopia and gait disturbance
Caucasian > African Imaging
Most often 3rd to 7th decade with bimodal peak for PHYSICAL EXAM Consider MRI for differential diagnosis of brainstem
FS in 4th and 6th decade. Weakness, usually ascending infarction, Wernicke encephalopathy, brainstem
Weakness in bulbar distribution may lead to apnea. encephalitis.
RISK FACTORS Rarely see brainstem signal changes in GBS.
Loss of deep tendon reflexes
Infection: May see enhancement of cranial nerves.
- Campylobacter jejuni Ptosis and ophthalmoparesis may occur with all GBS
- Hemophilus influenza subtypes but are the hallmark of FS. Pathological Findings
- Virai---CMV. EBV Classic triad of FS variant Perivenular inflammatory infiltrate and demyelination
Surgery - Ptosis and ophthalmoparesis of peripheral nerves.
-Ataxia
Immunization
-Areflexia
328
GUIUAIN-BARRE SYNDROME AIID ASHER SYNDROME YARIAIT
DIFFERENTlAL DIAGNOSIS IN-PATIENT CONSIDERATIONS REFERENCES

Bralnstem encephalitis, Infarction, mass, or Initial Stabilization
hemorrhage With typical GBS and ascending paralysis frequent 1. Guillain-Bar~ Study Group. Plasmapheresis and
Myasthenia gravis monitoring of respiratory mtus and cardiac rhythm. acute Guillain-BaiTI! syndrome. Neurology
DEmyelinating disease 1985;35:1096-1104.
Admission Crit.eria 2. Plasma ExchangeJSandoglobulin Guillain-Ba~
Wem icke'sencephalopathy All GBS patients except relatively stable F5 patients.
Botulism Syndrome Trial Group. Random lzed t~al of plasma
ALEIn exchange, intravenous immunoglobulin, and
Cavernous sinus lesion combined treatments in Guillain-Barre syndrome.
rl TREATMENT
MEDICATION
With GB5-ICU monitoring for potential
respiratory failure or autonomic dysfunetion
(arrhythmia).
Early intubation with progressive respiratory
lancet 1997;349:225-230.
ADDITIONAL READING
failure.
For GBS
Snyder LA, Rismondo V, Miller NR. The fisher variant
Plasmapheresis (1)[A) Discharge Criteria of Gulli aln-Barre syndrome (Fisher Syndrome).
Intravenous immunoglobulin (2)[A] Plateau in progression of weakness or improvement 1 Neuro.()phthalma/2009;29:31 ~324.
No controlled trial of treatment in FS Vucic: S, Kiernan MC, Cornblath DR. Guillain-Barre
syndrome: An update. J Clin Neurosd 2009;16:
ADDITIONAL TREATMENT ONGOING CARE 733-741.
GfHHH'illltiiNSUIWS
ICU monitoring Continued follow up until recovery is complete or
Respiratory suppon plateaued. . CODES
Monitoring for autonomic dysfunction
PROGNOSIS ICD9
Additional Therapies Gcod for signIllcant recovery wlthl n 3 months of
Physical therapy for weakness 323.81 Other causes of encephalitis and
onset with FS. Recovery often begins within 2 weeks. encephalomyelitis
Monorular ocd usion or prism for acute or Gcod for sign meant recovery with GBS. 357.D Acute infective polyneuritis
I
nonresolving diplopia A subgroup of GBS patients will have recurrent
Care for corneal exposure with fadal paresis 374.30 P1osls of eyelid, unspecified
episodes or contln ued progression Into chronic
SURGERY/OlliER PROCEDURES im'lammatory demyelinating polyneuropathy (CIDP).
With suboptimal recoveiY of ptosis or
ophthalmoparesis-strabismus, or lid surgery.
329
GYRATE ATROPHY
Avni Vyas
Lab
Plasma ornithine levels should be checked and are
DESCRIPTION HISTORY generally 10 to 20 times higher than the general
Gyrate atrophy is an autosomal recessive chorioretinal In the first decade of life. patients typically present
population.
dystrophy that initially presents with nyctalopia and with nyctalopia, decreased peripheral vision.
decreased peripheral vision during the first decade of myopia, and astigmatism. Imaging
life with progressive constriction of the visual field and In the second decade of life, patients develop Fluorescein angiography typically shows
eventual loss of central vision. posterior subcapsular cataracts. hyperfluorescence of the atrophic areas with
Patients develop progressive constriction of their possible leakage at the margins between normal
EPIDEMIOLOGY and atrophic tissue.
visual fields with advancing age.
Incidence - Optical coherence tomography may demonstrate
Patients report a gradual decline in vision with loss
Rare disease cystoid macular edema or an epiretinal membrane.
of central visual acuity by the fifth decade.
Most commonly reported in Finland with an Diagnostic Procedures/Other
incidence of approximately 1 in 50,000. PHYSICAL EXAM Early electroretinographic (ERG) testing shows
Generally, presents in the first decade of life All patients with gyrate atrophy are myopic, reduced scotopic and photopic responses. By
generally with refractive errors-4.00 to -20.000. adulthood, ERG responses are nondetectable.
RISK FACTORS Many patients have astigmatism as well.
Has been diagnosed in several countries with the By adolescence, posterior subcapsular cataracts are DIFFERENTIAL DIAGNOSIS
largest number of patients reported in Finland (l)IA]. evident. Advanced choroideremia-This is an X-linked
Dilated fundus exam initially shows multiple round recessive disorder with atrophy of the RPE and
Genetics choriocapillaris.
Autosomal recessive inheritance well-circumscribed areas of chorioretinal atrophy in
Linked to chromosome 1Oq26, with more than 60 the periphery and midperiphery of both eyes,
reported mutations generally in a symmetric pattern.
These areas coalesce with age and move towards
PATHOPHYSIOLOGY the posterior pole, eventually involving the entire
Patients have a deficiency of ornithine fundus.
aminotransferase (OAn. which leads to a 10- to Typically, there is a scalloped border between the
20-fold increase in plasma ornithine levels. remaining normal retina and the atrophic retina.
It is proposed that high ornithine levels may be toxic
to the retinal pigment epithelium (RPE).
EnOLOGY
Enzyme deficiency of OAT.
EEG abnormalities and hair abnormalities have been
reported in patients with gyrate atrophy.
Skeletal muscle changes have been reported on CT
and MRI.
White matter lesions and atrophy have been noted
on brain MRis.
330
GYRATE ATROPHY
3. Kaiser-Kupfer ML. Caruso RC, Valle D. Gyrate

. TREATMENT ONGOING CARE atrophy of the choroid and retina. ArdJ Ophthlimo/
2002;120: 1-46--153.
MEDICATION FOLLOW-UP RECOMMENDATIONS 4. Talcki KK. Milton RC. The natural hi51ory of gyrate
FirstUne Gyrate atrophy is a chronic progressive disorder with atrophy of the choroid and retina. Ophthalmology
progressive loss of vtsual arulty and peripheral 1981;88:292--301.
Studies have suggesll!d that long-term tompliance vision.
with a low-protein, low-arginine dirt can slow the Patients should be followed routinely for calllract
progression of chorioretinal degeneration (2)[A). and retina I evaluation.
However. even with good mmpi iance, there is still a . CODES
progressive decline in retinal function. One study of DIET
sibling pairs showed that younger siblings with See Treatment section. ICD9
earlier mmmencement of arginine-restriction had 363.54 Central chorolda Iatrophy, tota I
PATlENT EDUCATION
slower progression mmpared with older siblings Consider genetic munseling. 363.57 Other diffuse or generaliZ!!d dystrophy of
with later commencement of dietary modification dloroid, total
(3)[A). PROGNOSIS 368.60 Nlght blind ness, unspecified
LDng-term visual prognosis is poor.
Supplementation with vitam in 86 (pyridoxine) has
also been suggested, with additional dietary protein
restrittion based on ornithine levels. However, the REFERENCES CLINICAL PEARLS
majority of patients with gyrate atrophy are not Early intervention with a low-protein, low-arginine
pyridoxine responders. The dose of pyridoxine 1. Potter MJ, Berson EL. Diagnosis and treatment of
gyrate atrophy. lnt OphthaJmo/ Clin 1993;33: dlet may help slow progression of the disease.
supplementation Is not well established.
229--236.
SecondUne 2. Kaiser-Kupfer ML. Caruso RC, Valle D, Reed GF.
Consider cataract extraction when the posterior Use of an arginine-restricted diet to slow
subcapsular cataracts bel:orne vlsua lly slgnlflcant progresslonof visual loss In patients with gyrate
Patients should be educated that the poslllperative atrophy.Arcfl Ofirtha/mo/ 2004;122:982--984.
visual potential is limited by their retinal disease.
331
HAU.UCINATIONS, VISUAL
Tulay Kansu

Hallucinogenic agents
Release hallucinations represent images formed
from memory traces which would ordinari ~ be
blocked by incoming sensory data.
Visual deprivation
DESCRIPTION Psychosis Charles Bonnet syndrome (CBS) is characterized by
Visual hallucinations are visual sensory perceptions Delirium, delirium tremens complex formed and recurrent visual hallucinations
wittlout external stimulation associated with in psychologically normal people, and is often
ophthalmologic, neurologic, metabolic, toxic, and Dementia (Alzheimer disease, vascular dementia,
Dementia with Lewy bodies (DLB), associated with eye pathology.
psydliatric diseases. Ictal hallucinations are brief, stereotyped visual
Creutzfeldt-Jakob disease)
Charles Bonnet syndrome (CBS) is vivid, detailed, experiences. Ictal hallucinations tend to be unformed
but nonthreatening hallucinations in visually
~ DIAGNOSIS
when associated with occipital lesions and formed
deprived but cognitively unimpaired patients (1). when associated with temporal lobe lesions.
EPIDEMIOLOGY Peduncular hallucinosis is colorful, vivid images
HISTORY associated with midbrain, pontine, and thalamic
lnddence Detailed description of seeing things
The incidence of the Charles Bonnet syndrome varies lesions due to damage to the ascending reticular
Any clues to the cause anywhere in the body activating system.
among different population groups. Common in Neurologic or ophthalmologic symptoms
patients with dementia or confusional states Migraine aura is a disturbance of vision consisting
Smoking, alcohol, illicit drugs unformed black and white flashes, multicolored
secondary to metabolic insults.
Most patients are reluctant to admit hallucinations lights, dazzling zigzag lines (scintillating scotoma);
Prevalence due to fear of being labeled with a psychiatric and fortifications (teichopsia).
The prevalence of visual hallucinations in a range of disease. Therefore, directed questioning of Alice in Wonderland syndrome is a rare form of
ophthalmological populations, is around 10%, varying susceptible patients is essential. migraine aura. The most distinctive symptom is
between 0.4% and 63%, significantly associated with
PHYSICAL EXAM metamorphopsia, a distortion of body image and
an age over 64 years and a visual acuity in the best
Visual acuity perspective.
eye of 0.3 or less (2,3).
Visual fields Hypnagogic hallucinations are dreamlike
RISK FACTORS Full neurologic examination hallucinations associated with narcolepsy that occur
Dementia, psychiatric disorders, drugs, alcohol, social as a person is falling to sleep.
isolation, visual loss, female sex, and old age. DIAGNOSTIC TESTS & INTERPRETATION Schizophrenia sufferers experience auditory, visual,
PATHOPHYSIOLOGY Lab tactile, olfactory, and taste hallucinations. Auditory
Visual loss due to certain conditions produces a Drug levels if patient is on medications hallucinations are more common.
state of sensory deprivation that releases the visual Electroencephalography (EEG) for seizure disorders Hallucinations are primarily visual in delirium which
cortex from regulation by external stimuli, resulting and encephalopathy can be caused by drugs or metabolic diseases.
in visual hallucinations (cortical release Imaging Pediatric Considerations
phenomenon-deafferentation). MRI if brainstem or hemispheric lesion is suspected. Children may have hallucinations associated with
Ictal hallucinations are caused by spontaneous or substance abuse, psychosis, night terrors,
iatrogenic stimulation of the occipital or temporal DIFFERENTIAL DIAGNOSIS
Delusions are abnormal beliefs that are endorsed by decongestant medications, and seizures. VIVid recall
cortex. of visual images with hallucinatory character can
patients as real.
Hallucinogenic agents have effects on serotonergic occur in some children.
Confabulations are fabricated facts or events and
and limbic system structures. Alice in Wonderland syndrome can occur at any
occur primarily in patients with memory
Migraine aura is caused by cortical spreading disturbances. age, but is more common~ experienced by children.
depression, which is a wave of electro-physiological
Visual illusions are abnormal visual perceptions of a
hyperactivity followed by a wave of inhibition, Geriatric Considerations
viewed object (metamorphopsia, cerebral diplopia,
usually in the visual cortex. Elderly people, especially who are suffering with
polyopia, and palinopsia).
EnOLOGY dementia might see people, animals. complicated
Hallucinations are the visual sensation that does not
Ophthalmologic diseases (Visual loss due to scenes, and other bizarre scenarios.
correspond to a real object.
enucleation, cataract, glaucoma, optic nerve, or - Simple (flashes, sparkles, haloes, lights, shapes, Hallucinations associated wittl:
retinal disease) patterns, phosphenes) - 25% of Parkinson's disease
Neurologic disorders (Epilepsy, migraine, narcolepsy, - Complex (flowers. animals. people) - 25% of Alzheimer disease
brainstem disorders, hemispheric lesions, Alzheimer, - 57% of patients with a variety of causes of visual
Parkinson, and Lewy body disease) loss (Charles Bonnet Syndrome)
Toxic and metabolic conditions (encephalopathies, - Hallucinations and agitation are especially
drugs, alcohol, and withdrawal syndromes) troublesome in dementia with Lewy bodies (DLB).
Psydlosis Clinical characteristics include progressive
dementia, persistent visual hallucinations,
extrapyramidal syndrome, and severe sensitivity to
neuroleptics.
332
HALLUCINATIONS, VISUAL

Make sure that the metabolic status Is normalized. 1. Ffytdle DH. Visual hallucinatol)' .syndromes: Past.
Currerrt evidence of treatment comes from Cilse present, and future. Dialogues Clin Neurosd
Admlulon Criteria 2007;9:173-189.
reports. No controlled eli nical trials have been Metabolic disorders. delirium, agitation.
reported. The treatment is dependent on the 2. Ffytche DH. Visual hallucinations in eye disease.
underlying cause. IV Fluids Curr Opln Neuro/2009;22:28-35.
Given as supplement and to correct the metabolic 3. Schadlu AP, Schadlu R. Shepherd JB 3rd. Charles
MEDICATION status. Bonnet syndrome: A review. Curr Opin Ophthii/mol
FlmLine Nuning 2009;20:219-222.
Antipsychatics Careful monitoring for agitation and seH-destruction. 4. Gold G. Dementia with L.ewy bodies: CliniCill
- Drug selection sl1ould be individualized to the diagnosis and therapeutic approach. Front Neurol
patient's previous history of antipsychotic use, Discharge crn.r1a
When the metabolic status Is normalized Neurosd 2009;24:107-113.
current medical conditions, potential drug
interactions. and side effects of the medication.
In dementia with Lewy bodies. if symptoms are mild, $ ONGOING CARE ADDITIONAL READING
no mediCi!I treatment may be necessary.
-Therapeutic strategies include prescription of FOLLOW-UP RECOMMENDATIONS Cummings JL.. Miller HL Visual hallucinations.
L-dopa and cholinesterase Inhibitors such as Reassurance and regulation of medications Clinical occurrence and use in differential diagnosis.
rlVastlgmlne, and avoidance of anticholinergic West 1 Med 1987; 146:46-51.
l'atient Monitoring
medications and neuroleptics. Khan JC, Shahid H, Thurlby DA, et al. Charles
Metabolic side effects should be dosely monitored in
- Atypical neuroleptics are recommended such as this population. Bonnet syndrome in age-related macular
clozapi ne, quetiapine, or aripipn!Zole when degeneration; The nature and frequency of Images
cholinesterase inhibitors are ineffective (4) DIET in subjects with end-stage disease. Ophthii/mic
- Caution Is also requIred when prescribing No spetific diet.. thiamine in alcohol withdrawal Epidemio/2008;1 5:202-208.
memantlne to patients with possible DLB. PATIENT EDUCATION Teeple RC, Caplan JP, Stem TA. Visual
Antiepileptics in seizure disorders Reassurance halludnations: Differential diagnosis and treatment.
Plfm Care Companion J Clln Ps}f:lllatry 2009;11:
SacondUna PROGNOSIS 26-32.
Selective serotonin reuptake inhibitors and tricyclic Depends on the cause and complications
antidepressants (3).
Most patlents are relieved by reassurance and
ADDITIONAL TREATMENT medications but resol utlon of symptoms over time CODES
Generall'tfeiuutes does nat always occur.
I
Visual imprllVI!ment and rl!aS!iurance are the COMPUCA110NS ICD!f
mainstays of treatment. Halludnations may be persistent despite the treatment 368.16 Psychophysical visual disturbances
Issues for Rmtral
Ophthalmology, Psychiatry, Neurology consultations CLINICAL PEARLS
for related problems
SURGERY/OTHER PROCEDURES VISual hallud nations can be caused by release
Nat indicated except tumors causing ictal phenomena, seizures, migraine. cognitive deficits,
halludnations retina I disease, alcohol, drugs, halludnogens. or
metabolic disturbances.
Charles Bonnet syndrome is vivid, detailed but
nonthreatening halludnations in visually deprived
patients. Patients are not cognitively impaired.
Ocdpltal seizures cause simple unformed
halludnatlons. Temporal lobe seizures may lead to
complex imagery or formed halludnations.
Electroencephalography can be diagnostic.
Avoid neuroleptics such as haloperidol in a
dementia patient with lew! body disease.
333
HARD EXUDATES
Vikram J. Setlur
~ BASICS -
-
-
Retinal arterial macroaneurysm
Radiation retinopathy
Coats' disease
Cotton-wool spots
DESCRIPTION - Capillary hemangioma of the retina (i.e., von Myelinated nerve fiber layer
Hard exudates in theundus represent leakage of Hippellesion) Retinitis
lipid and protein from incompetent vessels in the -Neuroretinitis Drusen
retina, choroid, or optic disc. - Choroidal neovascularization (e.g., age-related
- Hard exudates are usually present in the oiJ!er Chorioretinal atrophy
macular degeneration)
plexiform layer of the retina but can dissect into Hollenhorst plaque
the subretinal space as well as into other retinal COMMONLY ASSOCIATED CONDITIONS Crystalline retinopathy (see the Talc retinopathy
layers. Macular edema is often present with hard exudates. chapter)
EPIDEMIOLOGY
Incidence
Difficult to quantify
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
RISK FACTORS Decreased vision if hard exudates are present in the
First Line
Underlying vascular diseases such as diabetes. macula
Treatment of the underlying disorder is required.
hypertension, and dyslipidemia Underlying medical diseases
Second Line
GENERAL PREVENTION PHYSICAL EXAM For diabetic retinopathy and diabetic macular edema.
Control of blood glucose, blood pressure, and blood Fundus examination reveals discrete, yellow-white a common cause of hard exudates, treatment of the
lipid levels can reduc.e the risk of common causes of deposits most frequently in the posterior pole. underlying macular edema with laser
hard exudates. such as diabetic retinopathy, Can be globular, linear, circinate surrounding a photocoagulation and/or injection of intraoular steroid
hypertensive retinopathy, retinal arterial leaking vessel, or large and confluent. A macular or anti-VEG Fmedication can lead to resolution ofthe
macroaneurysm, and retinal vascular occlusion. star can be seen with neuroretinitis or hypertensive hard exudates (1,2)[C].
PATHOPHYSIOLOGY retinopathy.
Increased vascular permeability allows leakage of Submacular surgery has been used to remove massive
protein and lipid into the retina. diabetic submacular hard exudates.
EnOLOGY
Numerous retinal vascular diseases can cause hard
exudates, including:
- Diabetic retinopathy
- Hypertensive retinopathy
- Retinal vascular occlusion
334
HARD EXUDATES
ADDinONAL READING CLINICAL PEARLS

ONGOING CARE
Naito T, Matsushlt S, Sata H, et al. Results of Discrete, yellow-white deposits of lipid and protein
COMPLICATIONS submacular surgery to remove diabetic submacular in the fundus from leaking vessels in the retina,
Macular edema is often associated with hard hard exudates. 1Med Invest 2008;55:211-215. choroid, or optic disc.
exudates. First-line treatment Is aimed at the underlying
Patients with neuroretinitis may have an afferent disorder, not the hard exudates themselves.
pupillary defect, but this oftl!n resolves with time. f ; coDES Macular edema is frequent assodation, and may
need treatment Independent of underlying systemic
ICD9 diseases Of present).
REFERENCES 250.50 Diabetes mellitus with ophthalmic
1. Larsson J, Kifley A, Zhu M, et al. Rapid reduction of manifestations. type ii or unspecified type, not
hard exudates in eyes with diabetic retinopathy stated as uncontrolled
after int~treal triamcinolone: Data from a 362.01 Background diabl!lk retinopathy
randomized, placeb()-((lntrolled, dlnlcal t~al. Acta 362.82 Retinal exudates and deposits
Ofi!thalmol2009;87:275-280.
2. Ciardella AP, Klancnik J, SchiffW, 1!1 al.lnt~treal
triamcinolone for the treatment of refractory
diabetic macular oedema with hard exudates: Arl
optical coherence tomography study. Br1
0/i!thalmo/2004;88: 1131-1136.
335
HEMANGIOMA IN CHILDREN
Mary O'Hara
Close fo_llow-.up of the ophthalmic examination during
the proliferative phase as astigmatism, anisometropia,
DESCRIPTION HISTORY and ptosis can cause profound amblyopia.
Rapidly growing benign blood vessel tumor of the Rapid growth and proliferation of a vascular lesion
periorbital tissues in the first 6 months of life Diagnostic Procedures/Other
- Presentation is variable, may be red macule or no Doppler of lesion demonstrates vascularity
EPIDEMIOLOGY lesion noted - Biopsy may be necessary if cannot rule out
1-2.6% of neonates (1)[C] Spontaneous involution begins during second year rhabdomyosarcoma
RISK FACTORS of life and may continue for almost 10 years. Pathological Findings
Female sex (1 )[C[ Proliferative phase marked by rapid proliferation of
PHYSICAL EXAM
Caucasian race (1 )[C[ capillaries lined by endothelial cells with high mitotic
Full ocular examination with special attention to
Prematurity (1)[C] rates and accompanying fibroblasts, pericytes, and
refraction (can induce myopia or astigmatism)
mast cells. During involution there is drop-off of
Chorionic villus sampling (2)[C] Measure size of lesion/photograph if possible mitosis with apoptosis of endothelial cells.
Family history Systemic examination for other anomalies
Genetics Vascular nature of lesion gives it a reddish color if DIFFERENTIAL DIAGNOSIS
superficial and bluish-puiple color if subcutaneous Rhabdomyosarcoma (usually superior temporal or
Most are sporadic without hereditary component
nasal)
- Familial form is a highly penetrant autosomal Lesion is compressible and blanches to touch
dominant trait with variable expression, linkage to Mass may swell and become more violaceous when lymphangioma
chromosome 5q31-33 (2)[C] baby cries or when placed in Trendelenburg position. Cavernous hemangioma
~ttention to obstruction of visual axis, preference of Nevus flammeus (does not gain volume)
GENERAL PREVENTION Port wine mark (does not gain volume until much
Genetic counseling for familial form f1xation, and chin lift (indicating likely binocular
fusion). later in childhood)
PATHOPHYSIOLOGY Assess for proptosis, optic nerve compression, or Arteriovenous malformation
Increased local expression of vascular endothelial fullness of temporal fossa. Neuroblastoma
wowth. factor (VEGF) during proliferative stage. During Encephalocele (usually superior nasal)
mvolut1onal phase, VEGF expression decreases (2)[C]. DIAGNOSTIC TESTS & INTERPRETATION
lacrimal sac mucocele (inferior nasal)
rJ
EnOLOGY Lab
lnitialle~b tests
Hamanomatous growth of blood vessels.
None if no systemic involvement TREATMENT
COMMONLY ASSOCIATED CONDITIONS CBC with platelet count for large lesions or if other
PHACES: Posterior fossa malformations signs of small vessel bleeding (e.g., petechia) MEDICATION
hemangiomas (usually large facial), an~rial Follow-up It special considerations Only indicated when visual axis obstructed and
anomalies, coarctation of the aona and other Counsel.parents that wheezing may indicate airway amblyopia unresponsive to penalization or occlusion
cardiac defects, eye abnormalities (especially optic hemangioma and to seek immediate medical care of the contralateral eye.
nerve malformation), sternal clefting and First Line
Bleeding or petechia indicate consumptive
supraumbi lical raphe Beta-blocker therapy is rapidly becoming first-line
coagulopathy (Kasabach-Merritt syndrome)
Kasabach-Mellitt syndrome: Consumptive treatment modality (3)[C[
c~agulopathy with thrombocytopenia, associated Imaging - Systemic treatment with 1-2 mg/kg/d of
With very large capillary hemangiomas Initial approach
propranolol divided b.i.d has produced dramatic
Diffuse neonatal hemangiomatosis Ultrasound of the lesion demonstrates
involution of lesions. There is no universally
compressibility, internal reflectivity, and indiscrete
Maffucci syndrome: Endochondromas, bony a~cepted protocol for initiation of therapy. A
deformities, and diffuse hemangiomas borders
h1story of bronchospasm, cardiac disease, or CNS
- Computed tomography (CT) less favored because
Klippei-Trenaunay syndrome: Rare triad of capillary vascular anomaly may be a contraindication to
of radiation to the infant, but can determine if
or cavernous hemangioma, venous malformations therapy.
there is any associated bony erosion.
and soft tissue or bony hypenrophy ' Topical treatment with timolol eyedrops or gel has
- Magnetic resonance imaging (M Rl) demonstrates
indiscrete margins and vascularity when produced results similar to systemic treatment in
comparing Tl- and T2-weighted images. isolated cases but has not been rigorously studied
- Orbital and brain imaging if proptosis, full (4)[CJ.
temporal fossa, indication of optic nerve
compression (e.g., afferent pupillary defect).
336
HEMANGIOMA IN CHilDREN
SecandUne COMPLEMENTARY & ALTERNATIVE mMPUCATIONS

Corticosteroid therapy has been the most commonly THERAPIES Ud deformity
used treatment modality until recently (l)[C) None proven or indicall!d Scarring, hypopigmentation, or atrophy of skin
- Oral therapy has a 3D-90% response rate. Fadal asymmetry
PartiaJlarly useful in treating deep orbital lesions.. SURGERY/OTHER PROCEDURES
Embolectomy usual~ not indicated for orbital and Psychosocial issues related to appea ranee
Complications Include pltultaryfadrenal
suppression, immunological suppression, and adnexal lesions.
Cushing syndrome. Dose 1-2 mg/kg.ld. me have Complete or partial excision of sight-threatening REFERENCES
used as much as 4 mgfkgld lesions resistant to other treatment modalities may
- lntralesional steroid therapy has a 60-80% be necessary on rare occasions. 1. Ceisler EJ, Santos L. Blei F. Periocular
response rate. Potential complications: Central Surgical excisions/facial plastic procedures may be hemangiomas: What every physician should know.
retina I artery occlusion, eyelid neaosis, eyelid done after involution. Pediatr Dermato/2004;21: 1-9.
depigmentation, and subclltaneous fat atrophy. IN-PATIENT CONSIDERATIONS 2. Phung TL. Hochman M, Mihm MC. Current
Adrena I suppression also reported. knowledge of the pathogenesis of infantile
-Topical steroid therapy may be helpful. Skin hemangiomas. Arch Facial Plart Surg 2005;7:
If airway concerns, this is primary consideration.
changes have been reported and ad renal 31~321.
suppression can be seen with high-dose. extended Admission Criteria 3. Zimmerman AP, Wiegand S, Werner JA, et al.
treatment. Some hiM! recommended inpatient initiation of Propranolol therapy for infantile haem angiomas:
Interferon alfa can be effective but rarely used systemic beta-blocla!r treatment with appropriatl! Review of the literature. tnt JPedlatr
because of high rate of toxicity in children. Efficacy monitoring. Otolflinolaryngo/ 201 0; 74:338-342.
may be increased if used with steroids. 4. Guo s. Ni N. Topical treatment for capillal)'
-Spastic diplegia, seizures. coma hemangioma of the eyelid using beta-block.er
- Liver toxicity ONGOING CARE solution. Arch Ophfhalmol 201 0; 128:255-2 56.
-Hematologic abnonnalitles FOLLOW-UP RECOMMENDATIONS 5. Schwartz SR. ICodsi SR. Blei F, et al. Treatment of
ADDITIONAL TREATMENT Rebound recurrence of the lesion has been seen on capi llal)' hemangiomas causing refractive and
cessation of aII forms of steroid and beta blocker otduslonal amblyopia. 1AAPOS 2007;11:
Ge~l MNsu,.s
therapy. 577--583.
Observation if no obstruction of visual axis or
significant astigmatism Close follow-up during proliferative phase as
am blyopla Is common
Treatment of amblyopia wtth atropine penalization ADDITIONAL READING
- Spectacles for significant astigmatism
or occlusion of the contralateral eye along with
- Penalization/occlusion therapy as needed http:l/emedicine.medscape.com/artide/1218805-
spectade if indicated
- Medically treat If nat responsive to conserwtlve overview
lssws for Referral therapy
I
Prompt ENT referral for airway hem angiomas Subsequent follow-up for appearance issues
Genetic counseling if fami Iial form or assodated - Defer surgery until Involution complete. If possible
conditions
. CODES
Patient Monitoring
Hematology consu Italion if Kasabal:h-Merrin Visionfrefraction ICD9
syndrome
Psychosoda llnll!ractlons 228.01 Hemangioma of skin and subcutaneous tissue
Neurosurgical consultation if orbitaUbrain
Involvement PATIENT EDUCATION
Additional Therapt.s Family support networlc: National Organization of CLINICAL PEARLS
Vascular Anomalies {NOVA): http:/flwlw.novanews.
Laser therapy may occasionally benefit superficial
lesions. Several different types of laser have been org Follow dosely for amblyopia In the proliferative
phase of the lesion.
used PROGNOSIS
-Carbon dioxide (C02) Approximately 40% of lesions spontaneously Wheezing warTants evaluation for airway
-Argon involute by 4 years old and 70% by 7 years old. hemangioma.
- Neodymium:Ynrium-aluminum-garnet (Nd:YAG) Astigmatic refractive errors are seen in 2D-46% of Most lesions do not waiTant treatment and
- Pulsed dye lasers patients with eyelid or orbital capillary spontaneously resolve over the first decade of life.
hemangiomas {5)[C).
One-third of patients with anisometropia had visual
aoolty of 20160 or worse In the affected eye (5)(C].
337
HERPES SIMPLEX
Peter R. Laibson

Fever, URI, ocular trauma, menses. high stress, CL use,
all have been considered risk factors, but not proven.
Lab
Most often lab tests such as culture are not necessary
DESCRIPTION as slit-lamp diagnosis of dendritic keratitis is very
Genetics
Herpes simplex virus type 1causes ocular infection specific. With more complicated, deeper forms of
Probably exist but not defined.
following introduction of the virus in childhood as a HSVK, culture, PCR, or immune tests are used.
subclinical or mild systemic infection. The HSV GENERAL PREVENTION
becomes latent in ganglion around the eye Oral antivirals are useful to prevent recurrent HSVK. Imaging
(trigeminal). The virus or viral genome may remain Most helpful with previous hx of multiple recurrences None.
latent for decades before reactivating to cause of HSVK. Pathological Findings
various forms of herpetic keratitis. Pathological studies are rarely performed.
PATHOPHYSIOLOGY
Conjunctival inflammation precedes corneal vesicles. Systemic viremia of HSV early in life seeds ganglia DIFFERENTIAL DIAGNOSIS
Superficial Punctate Keratitis (SPK), and then around the eye. Later reactivation of latent virus Can be confused with herpes zoster keratitis, Epstein
branching epithelial ulcer, a classic dendritic ulcer causes infection. Barr, acanthamoeba, fungal keratitis, and other
which may enlarge to a geographic form. persistent unusual deeper corneal infections.
Deeper corneal forms of herpes simplex virus COMMONLY ASSOCIATED CONDITIONS
keratitis (HSVK) may follow days/weeks later. Fever blisters around the mouth, nose, and eye often
Disciform keratitis is an immune form of HSV accompany ocular HSV.
. TREATMENT
involving corneal endothelium leading to edema.
With persistence, corneal scarring, thinning, and
rarely, perforation. ~ DIAGNOSIS MEDICATION
First Line
EPIDEMIOLOGY HISTORY Dendritic keratitis responds well to trifluridine drops
Ocular inflammation and eye irritation (pain) often topically and third generation topical gels such as
Incidence
precede HSVK. Blurred VA when the infection is in the gancidovir. Oral antivirals, acyclovir and valacydovir
HSV type 1 is the leading cause of blindness from an
visual axis. are useful. Steroids should be avoided for ocular
infectious corneal disease. By age 5 years, over 60%
surface HSVK, but are used with antivirals for stromal
show antibody evidence systemic HSV. PHYSICAL EXAM HSVK, disciform, necrotizing and uveitis.
About 1% of HSV infected patients develop ocular Slit-lamp examination is critical to diagnose ocular
HSV. HSV. Vital dyes such as fluorescein, lissam ine green, or SURGERY/OTHER PROCEDURES
Bengal rose are very helpful. Penetrating keratoplasty for severe stromal scarring,
Prevalence thinning, or perforation is helpful.
There are about 20,000 new primary cases of HSVK
seen yearly. Most are dendritic keratitis.
About 30,000 recurrent HSVK cases are seen
annually.
338
HERPES SIMPlfX
ADDITIONAL READING
Young RC, Hodge DO, Liesegang TJ, et al. Incidence,
FOU.OW-UP RECOMMENDA110NS recurrence, and outcomes of herpes simplex virus ICD9
l'atlent Monltotlng eye disease in Olmsted County, Minnesota, 054.42 Dendritic keratitis
With HSV dendritic keratitis fnllow-up. slit-lamp exams 1976--2007: The effect of oral antiviral prophylaxis. 054.43 Herpes simplex disciform keraUtls
as necessary until resolution, with stromal disease, Ardr Ophthalmo/ 201 0; 128(9):1178--1183.
very long term follow-up Is altlcaL Herpes Is fnrever. Kn ickelbein JE, Hendricks RL, Charublm noetkanok
P. Management of hsv stromal keratitis: An CLINICAL PEARLS
PA11ENT EDUCATION evidence-based review. Suw Ophtha/2009;
Discussion of long-term therapy. Not ID seH-med icate
54(2):226--234. Always suspect possible ocular HSV in patients. With
with recurrences, but to ellpl!dite office examination.
acute red eye and do slit-lamp examination with
PROGNOSIS vital dye to avoid treating HSV with topical steroids
Good for lniUaI and ea~y recurrent dendritic keratitis especially in children.
with topical Rx. Or oral Rx. Guarded for stromal HSV.
COMPLICATIONS
Significant morbidity and visual los.s with stromaI HSV:
Pediatric ConsideratioM
Infants and children can develop HSVK after loss of
maternal antibodies. Steroids should never .be used for
a red eye in this group unless a slit-lamp examination
is done.
339
HERPES ZOSTER OPHTHALMICUS
Neelofar Ghaznawi
Kristin M. Hammersmith
~ BASICS
o Iris/uvea: Segmental iris edema, granulomatous Diagnostic Procedures/Other
keratouveitis with keratic precipitates (8), PC Rcan be used to document the presence of VN
secondary glaucoma (9). DNA in aqueous samples in patients with evidence
DESCRIPTION o Retina/optic nerve: Retinal perivasculitis, of uveitis but without clinical eruption (14).
Acute, painful, vesicular eruption distributed along ischemic optic neuritis, necrotizing retinopathy. Evolution of lgG antibo~ titers between acute and
the ophthalmic branch of the trigeminal nerve (1 ). -late (1 month after rash): convalescent phase specimens demonstrating a
Ocular inflammation without characteristic rash: o Eyelid: Cicatricial entropion/ectropion, trichiasis. 4-fold increase can confirm evidence of HZO in the
Zoster sine herpete (2). o Conjunctiva: Hyperemia, pseudomembranes. absence of skin involvement (15).
o Sclera/episclera: Limbal vasculitis, sclerokeratitis,
EPIDEMIOLOGY DIFFERENTIAL DIAGNOSIS
posterior scleritis.
lnddence o Cornea:
Orbital cellulitis, poison ivy, herpes simplex keratitis.
200,000 new cases per year in the US.
1% life time ris~ (3).
RISK FACTORS
Increasing age.
o Epithelium: Delayed pseudodendrites (mucous
plaque keratitis). punctate epithelial keratitis,
neurotrophic ulceration, band keratopathy (1 0).
o Stroma: Nummular stromal keratitis, disciform
rJ TREATMENT
MEDICATION
Immune compromise (i.e., HIV. cancer, keratitis, lipid deposition, anterior and posterior First Line
immunosuppression) (4). stromal scarring, chronic edema (7). Oral antiviral therapy starting with 72 hours of rash
o Iris/Uvea: Segmental iris atrophy, granulomatous
onset. Duration of therapy-1 0 days.
GENERAL PREVENTION keratouveitis with KP. secondary glaucoma. -Acyclovir 800 mg PO, 5 times dailyt
CDC recommendation (2008}--routine vaccination o Retina: Acute retinal necrosis (ARN), progressive
- Valacyclovir 1000 mg PO, 3 times dai~t
of all individuals 60 years or older with Varicella outer retinal necrosis (PORN). - Famciclovir 500 mg PO, 3 times dailyt
Zoster Vaccination (Zostavaxlll>), including those Neuroophthalmic examination.
with prior history of herpes zoster or chronic medical t Acute renal failure: May occur in elderly patients
- Extraocular muscles: Transient EOM palsy and
conditions. (with or without reduced renal function) Use with
diplopia (11).
The vaccine is not licensed for the treatment of caution in elderly patients and reduce dosage in
-Cranial nerves: CN Ill, IV. or VI can be involved
acute HZ or post herpetic neuralgia (PH N), or for the patients with renal impairment (16).
indicating vasculitis within the orbital apex (orbital
prevention of HZ in patients aged younger than 60 Note: Use of valacyclovir and famciclovir has
apex syndrome) or brainstem dysfunction (12).
years (5). been associated with decreased occurrence of PHN.
-Acute pain: Characterized as lancinating, burning,
aching, andlor itching. Second Line
PATHOPHYSIOLOGY
-Post-herpetic neuralgia (PHN}-pain lasting more There are no FDA-approved alternative therapies.
Reactivation of latent virus from trigeminal ganglia
with viremia and spread of virus from sensory axons than 1 month after disease onset. Characterized ADDITIONAL TREATMENT
to skin. as constant or intermittent aching or burning,
sudden lancinating pain, allodynia (pain from Additional Therapifls
Age-related decline in varicella-zoster virus specific Acute HZO:
nonpainful stimuli), and/or a constant or
cell mediated immunity increases susceptibility to - Rash: Topical antibiotic ointment for areas of
intermittent itch (13).
viremia (5). pustule and crust formation.
DIAGNOSTIC TESTS & INTERPRETATION - Pain: Prednisone 60 mg/day for the first 7 days,
~ DIAGNOSIS Lab
No laboratory work up is necessary unless there is a
30 mg/day on days 8 to 14, and 15 mg/day on
days 15 to 21 for moderate to severe pain (17).
HISTORY high index of suspicion for HIV. -Anterior segment complications:
Painful vesicular eruption in a single dermatome. - Dry eye syndrome (DES): Frequent lubrication with
Imaging
Fever, malaise, headache, and pain in the affected Initial approach topical artificial tear formulations.
- Stromal scarring: Cautious use of low potency
dermatome. Slit-lamp examination including intraocular pressure
topical steroid to control inflammation.
Affective disorder: Anorexia, lassitude, mood assessment, corneal sensation, and dilated
-Iritis: Topical steroids (7).
changes, antisocial behavior, depression, and funduscopic examination.
insomnia (6). Chronic HZO:
Follow-up It special considerations - PH N: Tricyclic antidepressants, opioids,
PHYSICAL EXAM Starting oral antiviral therapy shortens the duration anticonvulsants, and topical analgesics have
Rash involving the V1 dermatome evolving from an of acute pain, virus shedding, rash, acute, and proven benefit. Refer to neurologist/pain specialist
erythematous lesion with macules, papules and late-onset anterior segment complications, and the for further management (13).
vesicles with pustules and crusts developing incidence and severity of PHN (12). -Anterior segment complications:
subsequently. Depending on severity of ocular inflammation, - DES: lubrication, punctal occlusion, autologous
Slit-lamp examination. patient should be re-evaluated within 5-7 days and serum.
-Ear~:
frequency of follow-up visits should be dictated by -Neurotrophic ulceration: autologous serum,
o Eyelid: Hyperemia, edema, ptosis. severity of slit-lamp findings. conjunctival flap, amniotic membrane transplant,
o Conjunctiva: Hyperemia, petechial hemorrhages, tarsorrhaphy.
ALERT - Keratouveitis/lnterstitial keratitis: Topical steroid
vesicles, pseudodendrites, papillae, follicles,
Treatment with valacyclovir in severe therapy (7).
pseudomembranes.
o Sclera/episclera: Limbal vasculitis, sclerokeratitis,
immunocompromise has been associated with - Pseudodendritiform keratitis (mucous plaque
posterior scleritis. thrombocytopenic purpura/hemolytic uremic keratitis): lubrication and off label use of topical
o Cornea: syndrome and is therefore not FDA approved for use antiviral ointment (acyclovir, vidarabine, or
o Epithelium: Pseudodendrites, punctate epithelial in this subset of patients. ganciclovir) has demonstrated potential benefit
keratitis. (10).
o Stroma: Nummular stromal keratitis, disciform - ARN/PORN: lntravitreal and intravenous antiviral
keratitis (7). therapy. Seek retina consult immediately.
340
HERPES ZOSTER OPKTHALMICUS
SURGERY/OTHER PROCEDURES REFERENCES 14. Starrou P. Detection of varicella zoster virus DNA
Tarsorrhaphy: Neurotrophlc ulceration not In ocular samples from patients with uvletis but
responsive to Iubr1catlon. 1. llesegang TJ. Herpes zoStl!r ophthalmlcus: Natural no cutaneous eruption. Eye 1994;8:684-687.
Corneal glue: Perforations I mm or less in diameter. history, risk factors. dinical presentation and 15. GiIden DH. Varicella zoster virus reactivation
Amniotic membrane transplant/Gunderson flap: morbidity. O,JJthalmaiD!fY 2008;115:S3-S12. without rash.J lrrkctOis 1992;166:S3D-S34.
Neurotrophic ulceration and thinning. 2. lewis GW. Zoster sine herpete. Br Med J 2958;2: 16. http:/ldailymed.nlm.nih.govfdailymed/archivesl
Penetrating ker.rtoplasty (PIC): Visually significant 418-421. fdaDrugl nfo.cfm1archiveid=13284. Accessed
scarring or ulceration not responsive to tarsormaphy 3. Ragozzlno MW. Population based study of herpes 7126/10.
alone (7). zoster and 113 sequelae. Medldne 1982;61: 17. Gnann JW Jr, et al. Acyclovir with and without
31D-316. prednisone for the treatment of herpes zostl!r. A
ALERT 4. Cohen PR, Grossman ME. Clinical feab.ues of HIV- randomized, placebo-controlled trial. The Na1ional
Taoorrhaphy should be s1rongly considered in associated disseminated HZV infection-A review Institute of Allergy and Infectious Diseases
patients undergoing PK. of literalure. Clin Exp Dermvto/1989;14: Collaboralive Antiviral Study Group. Ann lntem
273-276. Med 1996;125:376-383.
IN-PATIENT CONSIDERATIONS 5. Harpaz R. Ortega-Sanchez IR, Seward JF. AdviSOIY 18. Harding SP. Management of ophthalmic zostl!r.
Admission Criteria Committee of Immunization Practices (ACIP) J Med Viro/ 1993;5 97-101.
Pediatric patlenu requiring Intravenous antM ral Centers for Disease Control and Prevention. 19. Un HC. Herpes zoster ophthalmkus and the risk of
therapy Prevention if herpes zostl!r: recommendations of stroke: A popula1ion-based follow-up study.
Elderly patients unable to self-admi nistl!r oraI the Advisory Committee of 1mmunization Practices NeuroiD!fY 201 0;74:792-797.
medications or those with zoster in muhipie (ACI P). [published correction appears In MMWR
dermatomes Recomm Rep. 2008;57(28):779; MMWR Recomm
Patients witl1 severe immune compromise at risk for Rep 2008;57(RR-5):1-30; http:llwww.cdc.gov/ . CODES
disseminated disease mmwr/preview/mmwrhtmllrr5705a1.htrn.
Accessed July 10, 2010. ICD9
6. Burke BL. Immune response to varkella-zoster In 053.21 Herpes zoster keratoconjunctivitis
ONGOING CARE the aged.Ard! lntem Med 1982;142:291-293
053.22 Herpes zoster l~docydltls
PATIENT EDUCATION 7. Liesegang TJ. Comeal complications from herpes
zoster ophthalmicus. Ophtha/mol 1985;92: 053.29 Herpes zoster with other ophthalmic
Immunization with varicella zoster vaccine Is complications
recommended after resolution of disease. 316-324.
8. Yamada 1:. Cutaneous eruption with or without
PROGNOSIS ocular complications In patients w1th herpes
New lesion formation in the primary dermatome zoster involving the trigeminal neM. Graeles
CLINICAL PEARLS
frequently stops In 3-7 days In the healthy Individual
and the affected dermatome often heals within 2
Arch Clin Exp Ophtha/moi19!Kl;228:1-4.
9. Cabo M. Observations on the natural history of
Recognition and prompt trea1ment of HZO is H
necessary to reduce the inddence of complications.
weeks, but may not resolve for 4 to 6 weeks (1). herpes zoster ophthalmirus. Cu" Eye Res HZO can have a chronic and complicated course and
COMPLICATIONS 1987;6:195-199. therefore req ulres frequent foil ow-up.
Chronic disease ottUrs in 30% of patients over 60 10. Pava n-L.angston D. Dela~ herpes zOStl!r Herpes zoster vaccination should be recommended
and approaches 70% in patients older than 80 years pseudodendrites. PCR detection of viral DNA and to all individuals meeting immunization criteria.
(18) a role for antM ral therapy. Arch Ophthalmal
OphthaImic complications indude the following: 1995;13: 1381-1385.
-Stromal scarring 11. Marsh RJ. Extraocular motor palsies in ophthalmic
-Cataract zoster: a review. Br J Ophtha/mol 1977;61:
- Corneal perforation 677-682.
-Glaucoma 12. Kattah JC, Kennerdel JS. Orbital apex syndrome
- Neurotrophic ulceration secondaIY to herpes zoster ophthalmicus. Am J
- Secondary infectious keratitis Ophthalmol 1978;85:378-382.
- Necrotizing retinitis 13. Pava n-L.angston D. Herpes zoStl!r: AntMrals and
- Optic neuritis pain management. Ophtha/mo/2008;115:
Systemic complications S13-S20.
-PHN
- Stroke (19)
341
HIV/AIDS-REIATED RETINOPATHIES
Brad Ballard
Mark L. Nelson
~ BASICS
CMV reaches the retina hematogenously. It then Lab
infects the retinal vascular endothelium. C04 count and viral load are important lab tests to
DESCRIPTION On histopathology, infected cells show follow. It is not necessary to draw CMV blood
HIV retinopathy and CMV retinitis are by far the pathognomonic cytomegalic inclusions with large serology as CMV has a high prevalence in the
most common ocular manifestations of HIV. eosinophilic intracellular bodies. population.
Cytomegalovirus (CMV) retinitis is the most Electron microscopy can show CMV particles within Aqueous sampling with PCR analysis can be used to
important AIDS-associated illness to affect the eyes. infected cells. identify CMV DNA.
It is a full thickness retinal infection that can lead to Histopathology shows full thickness retinal necrosis.
necrosis and to retinal tears and detachments. Imaging
coagulative vasculitis, and choroiditis. Serial fundus photographs are helpful to document
Other ocular manifestations of HIV infection include
ETIOLOGY progression of disease.
HIV retinopathy, various opportunistic infections
including toxoplasmosis. syphilis. pneumocystis Cytomegalovirus (CMV) is a member of the herpes Fluorescein angiography is not usually helpful in
carinii, cryptococcus. and herpes-family virus virus family. diagnosis.
infections. especially CMV retinitis and progressive There is a high prevalence of CMV antibodies in the DIFFERENTIAL DIAGNOSIS
outer retinal necrosis. Kaposi Sarcoma, intraocular general population and most people are thought to The differential diagnosis includes cotton wool spots
lymphoma, and conjunctival squamous cell have been infected at one time or another. from other causes. herpetic retinitis syndrome such as
carcinoma also occur. In healthy people, CMV infection may manifest as a ARN and PORN, and toxoplasmosis.
rJ
mild mono-lik.e illness, or may be asymptomatic.
Congenital CMV infection can cause significant COMMONLY ASSOCIATED CONDITIONS
neurological and developmental abnormalities. Although CMV retinitis occurs most commonly in TREATMENT
patients with AIDS, it can also occur in severely MEDICATION
immunocompromised individuals, such as those
Mothers with CMV primary infections can pass the
receiving chemotherapy.
First Line
virus on to fetus transplacentally causing congenital In all FDA approved treatments of CMV retinitis,
Before HMRT. a diagnosis of CMV retinitis was there is an initial period of high-dose antiviral
CMV infection.
associated with a median survival time of 6 months. induction followed by continuous maintenance.
EPIDEMIOLOGY Initially, oral valgancidovir (the oral pro-drug of
Incidence
In the pre-HMRT era, CMV retinitis had a cumulative
~ DIAGNOSIS ganciclovir) 900 mg b.i.d for 21 days of induction
followed by 900 mg q day for maintenance therapy
lifetime incidence of 25--40%. The incidence has HISTORY can be used. The major side effect of valganciclovir/
decreased considerably in recent years. Patients may present with decreased visual acuity, ganciclovir is bone marrow suppression.
Prevalence flashing lights (photopsias), or blind spots - However, in eyes with macula threatening disease,
HIV retinopathy occurs in 50--60% of patients (scotomata). IV gancidovir should still be considered.
infected with HIV. One study found that 54% were asymptomatic. IV ganciclovir can be administered 5 mg/kg IV b.i.d
Historically, CMV retinitis occurred in up to 40% of PHYSICAL EXAM for 2 week.s followed by 5 mg/kg IV for maintenance
patients with HIV and is an AIDS-defining illness; Physical exam shows yellow--white areas of retinal therapy. The major toxicity of ganciclovir is
however, it is much less common in the HMRT era. necrosis with some retinal hemorrhages that often myelosuppression. Granulocyte-macrophage colony
start in the periphery and follow the vasculature stimulating factor should be used concomitantly to
RISK FACTORS avoid myelosuppression.
The main risk. factor for development of CMV retinitis centripetally.
There may also be hard exudates, and mottling of Oral ganciclovir can be used as maintenance
is a low CD4 count, typically below 50.
the retinal pigment epithelium. therapy, but recurrence is more frequent than with
GENERAL PREVENTION valganciclovir or IV ganciclovir, and the fellow eye is
Each lesion is most active at the borders.
HMRT therapy has shown great benefit for reduction at greater risk of developing CMV retinitis.
in CMV retinitis, as it often maintains a CD4 count As most patients are severely immunocompromised,
above 50. there is usually minimal vitreitis.
Very early CMV may resemble cotton wool spots,
but with lesions larger than 750 11-m, CMV must be
considered.
Funduscopy may show a granular pattern, a
fulminant/hemorrhagic appearance, or "frosted
branch" angiitis.
342
HIVIAIDS-RELATED REnNOPAlliiES
IV fesc:arnet at 90 mglkg b.i.d for 2 weeks foiiOWI!d COMPUCATlONS Holland GN. AI OS and Ophthalmology: The first
by 90-120 mglkg dally for maintenance Is another Immune Recovery Uveitis (IRU) Is a potential quarter century. Am I Ophthalmo/ 2008; 14S(3):
option. The principle toxicity of foscamet Is rena I compllci!tlon of recovery from low CD4 counts. 397-408.
dysfunction, electrolyte abnormalities, and possibly Patients who had CMV retinitis, who then have Musch DC, Martin DF, Gordon JF, et al. Treatment of
seizures. reconstitution of their immune system. may develop cytomegalovirus retinitis with a sustained-release
Institution of HAART therapy is critical. It has raised anterior or intermediate Mitis, cystoid macular gancidovir implant lhe Ganciclovir Implant Study
the survival time from 0.65 years to>1 year, it has edema, and epiretinal membranes. Patients Group. N Enrl J Med. 1997;337(2):83-90.
reduced the odds of CMV prog resslon, and the com plain of vision loss, pal n, photophobia. and
number of new CMV cases has declined. floaters.
Maintenance therapy may be discontinued in Other complications of IRU indude posterior . CODES
patients with CD4 > 100 cells/p.L who show no subcapsular cataracts, proIiterative
signs of progression AND who are on HAARJ: vitreoretinopathy, and optic nerve ICD9
neovascularizalion. 078.5 Cytomegaloviral disease
Second Une
lntravltreal administration of gandclavlr CMV retln ltls can cause retinal detachments. 363.20 Chorioretinitis, unspecified
200 P.!r-2 mg weekly and fcscarnet 2.4 mg weekly. Regular monitoring is needed.
Induction with intravitreal injections is twice a week
for 2-3 weeks. Intravitreal injection ID one eye ADDITIONAL READING CLINICAL PEARLS
obviously does not protect the other eye from
developing CMV retinitis. Marlin DF, SierraMadero J, Walmsley S, et al; After HIV retinopathy, CMV retinitis Is the most
A gancldovlr lntravttreallmpia nt (VItrasert) may be Valganciclovir Study Group. A controlled trial of common ocular manlfestatlon of AIDS. It Is an AIDS
considered in piltients who do not tolerate systemic valgancidovir as induction therapy for defining illness.
treatment. but it does not provide systemic cytomegalovirus retln!tls. NEnrl J Med. Patients may be asymp!Dmalic or may have vision
protection against CMV nor does it protect the other 2002;346(1 S):1119-1126. Erratum In: N EnfiJ less, floaters, flashes, or blind spots. Retinal findings
~ from CMV. It typically lasts 2 years if CMV Med 2002;347(11 ):862. of vaso.dar angiitis, yellow-white retinitis with a
reslsta nee to gancldovlr does not develop. Goldberg DE, Smithen LM, Angelilli A, et al. HIV granular appearance, and hemorrhage can be seen.
lhe risks of intravitreal injections indude cataract, assodated retinopathy in the HAART Era. Retina Treatment is usually started with oral valganddovir
vitreous hemorrhage, retinal detachment, and 2005;25(5):633~9. and HAART treatment is necessary to achieve any
infectious endophthalmitis. Thome JE, Jabs DA, Kempen JH, et at Studies of lasting rem ission.
IV cidofovir at 5 mg/k:g weekly for 2 weeks, then Ocular Complications of AIDS Research Group. Prognesis is improved since HAART, but is still poor.
5 mglkg Mf'l other week for maintenance. lnddence of and risk factors for visual acuity less
Cldofovlr may cause hypotony and anterior uveitis. among patients with AIDS and cytDmegalovirus
retinitis in the era of highly active antiretroviral
I
therapy. Ophtflalmolagy 2006 Aug;113
ONGOING CARE (8):1432-1440.
FOU.OW-UP RECOM MENDA110N5
Patients should be followed dosely, especially if they
have discontinued therapy as CMV retinitis has a high
recurrence nate in patients with a CD4 count < 100.
PROGNOSIS
lhe prognosis was almost uniformly fatal prior to
the advent of HAARJ:
Now it carries a much better prognosis, but even
with HAART, and antiCMV therapy, mortality is still
increased after CMV retinitis develops.
343
HOMOCYSTINURIA
Douglas M. Wisner
Progressive lenticular myopia and eventual ectopia
lentis
Lab
Classie homocystinuria is a clinical diagnosis
DESCRIPTION Acute glaucoma secondary to pupillary block affirmed by laboratory and genetic testing.
Homocystinuria compromises a group of inborn Thromboembolism secondary to increased vascular laboratory testing reveals elevated levels of plasma
errors of methionine metabolism tf1at result in endothelial adhesiveness and platelet activation metf1ionine and plasma homocysteine.
elevated levels of homocysteine in the urine
ETIOLOGY Urinary levels of homocysteine are elevated. This
(homocystinuria) and blood (homocysteinemia).
Incompetence and disruption of the zonular fibers should be a freshly voided specimen as the
Cystathione ,6-syntf1etase deficiency (classic compound is unstable.
homocystinuria) is the most common cause and is Ischemia to brain and vital organs
Pyridoxine (86 ) challenge differentiates 86
discussed here. COMMONLY ASSOCIATED CONDITIONS responders from nonresponders and dictates
Other defects leading to elevated levels of plasma Developmental delay (common) treatment.
and urine homocysteine include defects in Thromboembolic disease (common) - 100 mg pyridoxine PO x 1.
methylcobalamin formation and - Plasma amino acids measured in 24 hours.
~ DIAGNOSIS
methylenetetrahydrofolate reductase deficiency. -A reduction of 30% or more in plasma
Signs and symptoms of classic homocystinuria are homocystine and/or plasma methionine
systemic, primarily involving the ocular, nervous, concentration suggests B6 responsiveness.
cutaneous, skeletal, and hematologic systems. HISTORY
a If no significant change occurs, 200 mg
Birth history
Ocular involvement is marked by progressive myopia pyridoxine PO x 1, then reassess as above.
- Neonatal screening performed?
(nearsightedness) and ectopia lentis (dislocation of o If still no change has occurred, 500 mg of
the native lens). Development
pyridoxine is given in a child or adult.
-Speech delay
EPIDEMIOLOGY - If plasma homocystine and methionine
- Mental retardation
concentrations are not significantly decreased
Incidence - Behavioral/psychiatric disturbances
after the last dose of pyridoxine, it is concluded
Varies by region; the highest incidence in the world, Family history that the individual is 85 -nonresponsive.
a ratio of about 1:3000 live births, is found in Qatar. - Consanguinity o Note: Infants should not receive more than
Other nations with high incidence include Norway -Thromboembolic death at an early age 300 mg of pyridoxine. This can lead to
(1:6400), Germany (1:17,800), and Ireland Ocular history ventilator-dependent respiratory failure.
(1 :65,000). - Poor vision
General incidence is estimated to be 1:200,000 to - Profound nearsightedness (reading material held Imaging
1:300,000 live births. very close to face) MRl with stroke protocol if any suggestion of focal
-Eye pain CNS lesion on examination.
RISK FACTORS DEXA scan for osteoporosis monitoring.
Classic homocystinuria is autosomal recessive. General Diagnostic Procedures/Other
- Poor speech/interaction for age Prenatal diagnosis possible with amniocentesis.
The gene for cystathionine ,6-synthetase is located
on chromosome 21q22.3. - Marfanoid habitus Molecular genetic testing is available to isolate the
-Scoliosis genetic mutations.
Patients typically harbor 2 different mutations in the
gene for cystathionine p-synthetase (i.e., compound - Pectus excavatum or carinatum liver biopsy can be used to assay for cystathionine
heterozygotes). - Genu valgum ,6-synthetase.
-Pes cavus Pathological Findings
Varying disease manifestations are felt to be related
- High arched palate Disrupted zonular fibers (as opposed to Marfan
to the particular mutations inherited.
- Dental crowding syndrome where fibers tend to be stretched).
GENERAL PREVENTION - Malar flush Ectopia lentis in homocystinuria can occur in any
Newborn screening - Generalized osteoporosis direction (contrary to classical teaching).
- Not available in all states Ocular
-Tests for methionine levels -Thick glasses/progressive and severe myopia
o High false-negative rates secondary to normal - Increased intraocular pressure
neonatal levels during the first few days of life -Red eye
Genetic counseling - Ectopia lentis with disrupted zonular fibers
o Usually after age 2
-Cataract
- Retinal detachment
- Optic atrophy
- Staphyloma
344
HDMDCYSTINURIA

Trauma Patients are at extremet,o high risk of lntraopetatlve
Isolated OOJiar disease stroke and thrombosis. 1. LawsonYuen A. l..l!'ly HL. The use of betaine in the
- Buphthalmos Urgent lens extraction for acute glaucoma caused by treatment of elevaled homocysteine. Mol Genet
-Aniridia ectopia lentis Metab 2006;88(3):201-207.
- Ectopia lentis et pupillae Elective lens extraction for extreme myopia or to 2. Wu-Chen W, Letson R. Summers C. Functional and
- FamiIial ectopia lentis prevent arute glaucoma structural outcomes following lensectomy for
- P'erslstent hyperplasia of the primary - Accomplished via pars pia na lensectorny with ectopia lentis. JAm Assoc Pediatric O{irtha/
vitreous/persistent fetal vasculature successful lang-term outcome {2)[C]. Strabismus 2005;9(4):353-357.
-Coloboma Thrombolysis for acute stroke 3. Lowe S, Johnson D, Tobias J. Anesthetic
Infectious implications of the child with homocystinuria.J Clin
-Syphilis Aneslh 1994;6(2):142-144.
Metabolic/syndromit $ ONGOING CARE 4. Bulla! JP. O'Keefe M, Bowell R. Naughten ER.
- Marfan syndrome Ocular complications in homocystinuria-early and
FOLLOW-UP RECOMMENDATIONS late treated. Br J Of/ltha/mo/1989;73:427-431.
-Weill-Marchesani syndrome Pediatric aphthalmologist
- Sulfrte oxidase defidency
- Xanthine oxidase defidency Contact lens speda list Uf aphaldc)
- Molybdenum tofactor deficiency P'edlatrlc mftabollc dlsease spedalist . CODES
- Hyperlyslnemla Hematology evaluation
- Methylenetetrahydrofolate reductase defldency Patient MonltDrlng ICD9
Special intraopellltive antithrombotit measures are 270.4 Disturbances of sulphur-bean ng amino-add
indicated if patients require a surgical procedure metabolism
. TREATMENT (3)[C]. 367. 1 Myopia
MEDICATION See " Follow-up section. 743.37 Congenital ectopic lens
8(;fpyridoxi ne DIET
- 200-1 000 m!f-!4 hr Bti Meth iani~restricted diet.
- 1-5 m!f-!4 hr py~daxlne CLINICAL PEARLS
o Drives methionine metabolism forward PATIENT EDUCATION
o Patients with some residual enzyme activity Genetics Home Reference: Homocystlnu~a NeM!om screening currently has high fa Jse.negative
(http:l/gh r. nlm.nih.gov/condition=homocystinuria) !lites.
(40% of affected) will respond.
Bu supplementation PROGNOSIS Early treatment can reduce long-term complications.
Betaine (1)[C] Usually limited lifespan (thromboembolism) and Patients are at extremely high 11sk. of Intraoperative
- 200-250 mg/kg/day intelligence. stroke and thrombosis. H
- Remethylates homocysteine to mflhionine If ~ therapy Instituted at an eart,o age In a Parents of patients with classic homocystinuria are
responsive patient, developmental delay and ectopia at increased risk for thromboembolism as
ADDITIONAL TREATMENT heterozygotes.
lentis can be prevented (4)[C].
General MHSIII'eS
Address refractive error with glasses or contact lens. COMPUCATIONS
Treat amblyopia, which can result from VIsual loss
anisometropia. Death (thromboembolism)
Hydration to prevent thromboembolism. Fractures (osteoporosis)
345
HORNER SYNDROME
Deepak P. Grover
Ann P. Murchison
Jurij R. Bilyk
~ BASICS
N. B.: Although migraine and cluster headaches may DIAGNOSTIC TESTS 8r INTERPRETATION
rarely present as HS, carotid dissection must be Lab
ruled out in any patient presenting with pain Initial lab tests
DESCRIPTION (including headache). Initial lab studies are not necessary in the diagnosis
Horner syndrome {HS) refers to the clinical triad of N. B.: Cavernous sinus lesions rarely present as an ofthe HS.
ptosis. miosis. and at times anhydrosis. which results Isolated HS. Typically cranial neuropathy {e.g., Lab tests may be considered depending on
from an interruption in the oculosympathetic abducens nerve palsy) is also present. localization and suspected etiology:
pathway. N. B.: Orbital lesions never cause an isolated HS. -ACE and PPD placement if chest imaging is
May have iris heterochromia if congenital. abnormal.
Transient conjunctival hyperemia COMMONLY ASSOCIATED CONDITIONS
See Table 1 in Online Resources . -Urine test (vanillylmandelic acid [VMA].
Congenital or acquired. homovanillic acid [HVA]) to rule out
~ DIAGNOSIS
neuroblastoma in pediatric HS.
EPIDEMIOLOGY
lnddence Fallow-up ll special considerations
Pediatric HS: 1.42 per 100,000 patients. Inspect old photographs for evidence of HS.
HISTORY
Acquired adult HS: Unknown. By far, the most frequent complaint is new onset, Imaging
unilateral ptosis. Initial approadl
Prevalence
Congenital HS: 1 in 6,250 births. Patients rarely complain of visual problems Correct imaging is critical in the management of HS.
secondary to miosis. In many cases of HS, the history will provide
Acquired adult HS: Unknown.
Transient redness of the affected eye. important clues as to the etiology of the HS.
RISK FACTORS Forehead anhydrosis is an infrequent complaint. Any acute HS ( <4 weeks) presenting with
Head and neck trauma Duration of symptoms is important to elicit. head/neck pain or discomfort requires urgent
Brainstem or cervical spine pathology The most important symptom to obtain from the imaging to rule carotid artery dissection.
Neck or lung apex pathology, including benign patient is the presence of any head, periorbital, or As a rule, the work-up of HS necessitates imaging
tumors. malignancy. and inflammation neck pain {sometimes described by the patient as a from the level of the cavernous sinus (skull base) to
Genetics dull ache). the lung apex. Note that imaging of the brain above
A rare genetic form is likely an autosomal dominant Additional history may be obtained on directed the slr.ull base, as is usually done in routine brain CT
trait. The vast majority of HS is sporadic and acquired questions and MRl, is unnecessary and inadequate.
from a localized abnormality. Associated neurologic symptoms: A combination of conventional imaging and
- Hem isensory loss angiography of the head and neclc is recommended
GENERAL PREVENTION (MRI/MRA or CT/CTA}.
None -Dysarthria
-Dysphagia Extracranial Doppler ultrasonography is unreliable
PATHOPHYSIOLOGY -Ataxia for diagnosing carotid artery dissection of the slr.ull
First-order central sympathetic fibers descend from -Vertigo base.
the hypothalamus through the midbrain and pons, -Nystagmus Chest CT or MRI to rule out apical lung mass.
and terminate in the intermediolateral cell column of Recent or distant head, neck. or chest trauma, MRl of the thorax and abdomen to rule out
the spinal cord (ciliospinal center of Budge) at the including surgery. neuroblastoma in children.
level of C8-T2. Any history of respiratory disease, including Conventional arteriography is usually unnecessary
Second-order preganglionic sympathetic fibers exit smoking. (unless stenting of the carotid artery dissection is
the spinal cord at the level of T1, enter the cervical Any history of cancer. recommended in rare cases) and is contraindicated
sympathetic chain near the pulmonary apex and the as a first imaging modality.
subclavian artery, then travel up the sympathetic PHYSICAL EXAM Fallow-up ll special considerations
chain and synapse in the superior cervical ganglion 1-3 mm of upper eyelid ptosis secondary to MUller Multiple pharmacologic tests (cocaine,
at the level of the bifurcation of the common carotid muscle paresis hydroxyamphetamine, phenylephrine, apraclonidine)
artery {CH4). Reverse ptosis (slight elevation) of the lower lid are available for the diagnosis of HS. Note that many
Third-order postganglionic fibers exit the superior secondary to denervation of the inferior tarsal cannot be performed on the same day. The clinician
cervical ganglion, ascend along the internal carotid muscle. This finding is not always present, but is should therefore carefully choose the test best suited
artery and enter the orbit through the optic canal highly specific. for the patient. (See Table 2 in Online Resources")
and cavernous sinus/superior orbital fissure. Miosis In general, cocaine and apradonidine are the most
lntraorbitally, the fibers travel with sensory nerves Anisocoria that increases in the darlc. Dilation lag is useful and most frequently used agents.
and arteries to innervate the iris dilator and Milller usually present (the affected pupil dilates slowly in a - Should not be used in infants younger than 6
muscle. dark room). months without cardiopulmonary monitoring.
EnOLOGY Anhydrosis is variable and difficult to test. Apraclonidine may cause lethargy, bradycardia,
First-order neuron lesions: Intracranial or cervical Conjunctival hyperemia may be noted in the first and respiratory depression in infants.
spine pathology. 2 weeks of onset. but is usually a transient Hydroxyamphetamine and dilute phenylephrine
Second-order neuron lesions: Lung apex and neck to phenomenon. testing are impractical and usually unnecessary.
level of carotid bifurcation. Iris heterochromia (hypopigmented iris) can be seen
Third-order neuron lesions: Carotid bifurcation to in congenital HS or in acquired pediatric HS (within
cavernous sinus. a few months of birth).
346
HORNER SYNDROME
DIFFERENTlAL DIAGNOSIS SURGERY/OTHER PROCEDURES Biousse V, D'Anglejan-Chatillon J, Touboul PJ, et al.

lnvolutlonaI ptosis with physiologic an lsoco~a. Both Dependent upon spedflc etiology. Time c.oorse of symptoms In extracranlal ca rotld
conditions are common and may coexist. In Mlmls Is asymptOmatic and does not require artery dissections. A series of 80 patients. Stroke
physiologic anisocoria, the amount of anisotoria will medical or surgical intervention. 1995;26:235-239.
not change in bright and dim lighting, distinguishing EyeIid rEpair Glatt HJ, Putterman AM, Fett DR. Muller's
it from that seen in HS. - Conjunctivomu llerectomy for ptosis repair muscle-conjunctivlll resection procedure in the
Cranial nf!M! Ill palsy. An incompll!tl! CNIII paresis treatment of ptosis in Homer's syndrome.
may present with ptosis. If anisocoria Is present. the IN-PATIENT CONSIDERATIONS Ophrhalmlc Surg 1990;21 (2):93--96.
affected pupil is larger than the nonnal side. Dependent upon etiology.
Holmes-Adie tooic pupil. The affectl!d pupil is larger.
Use of ipsilateral miotic (e.g., pilocarpine) or $ ONGOING CARE . CODES
contra lateral mydriatic agent
Iris sphincter musde damage (usually causes mild FOLLOW-UP RECOMMENDATIONS ICD9
mydriasis). The most common cause Is cataract Dependent upon etiology o 337.09 Other idiopathic peripheral autonornic
surgery. DIET neuropathy
Nutrition for children with neuroblastoma is importarrt 374.31 Ptosis of eyelid, paralytic
during therapy for adequate caloric Intake for gnowth 379.42 Mimis (persistent), not due to miatics
. TREATMENT and development.
MEDICATION
Dependent upon the spedfit etiology. CLINICAL PEARLS
ADDITIONAL READING
Carotid artery dlssectlon. HS in the presence of ipsilateral head, facial, or neck
- Antiplatelet or anticoagulant agents. Almog Y, Gepstein R, Kesler A. Diagnostic value of pain or discomfort requires urgent and correctly
Neuroblastoma imaging in Homer syndrome in adults. ordered Imaging to rule out a carotid artery or
Antineoplastic agents if secondary to neoplasia. 1Neuroophthalmol 201 0;30(1 ):7-11. venebral anery dissection: CT/CTA or MRIIMRA of
Anti-inflammatory or anti-metabolite agents if Chen PL. Chen JT, Lu DW, et al. Comparing efflcades the head and ne~:k.
Inflammatory (e.g., sarcoidosis). of 0.5% apradonkllne wlth4% cocaine In the Imaging of the Iung apex should be performed if
diagnosis of Horner syndrome in pediatric patients. other imaging is normal. but is nat urgent.
GeMtrlc CotWdeliltloM 1 Ocui Pham1arol Ther 2006;22(3): t 82-187.
Cautionary use of topicaI cocaine and o The anisocoria of HS is greater in dim light.
o Smith SJ, Diehl N, Leavitt JA. et al. Incidence of
hydroxyamphetamine in elde~y and in patients who Reverse pt05Js of the lower lid Is a helpful finding
pediatric Horner syndrome and the risk. of in the diagnosis of HS.
may undergo urine testing in their occupation. neuroblastoma: Apopulation-based study. Ardf Horner syndrome may be the first manifestation of
PedMtric Considetiltions
Cautionary use of topicaI cocaine,
Ophrha/mo/201 0; 128(3):324-329.
Arnold M, Baumgartner RW, Stapf C, et al.
neuroblastoma in the pediatric age group. H
Cocaine and apraclonidine are the most useful
hydroxyamphetamine, or apraclonidine in infants or Ultrasound diagnosis of spontaneous carotid
agents for phannacologlc testing of HS.
children. dissection with isolated Homer syndrome. Stroke
2008;3 9(, ):112-86. Cocaine and apraclonldlne should be used with
Ptttgnancy Considerations caution in children younger than 6 months.
Cocaine, hydroxyamphetamlne, and apradonldlne Mughal M, L.ongmulr R. Current pharmacologic
testing for Horner syndrome. Curr Neurol Neurosd
are Class Cagents. Rep 2009;9(5):384-38g.
Cocaine and apraclonidine testing is contraindicated Kadlchodayan Y, leek DT, Moran CJ, et al.
if breastfeeding due to high risk of significant Angioplasty and stenting in carotid dissection with
adverse effects to infallllbreast milt production. or without assodated pseudoaneurysm. AJNR Am J
Caution is advised for topical hydroxyamphetamine Neurorad/o/2005;26{9):2328-2335.
during lactation. Trobe JD. The evaluation of Horner syndrome.
1 Neuroophthalmo/2010;30(1):1-2.
KDc F, Kavuncu S, Kansu T, et al. The sensitivity and
Issues for Refel'l'81 spedfidty of 0.5% apraclonidine in the diagnmis of
Neurologic consultation for CVA. mass, meningitis, oculosympathetlc paresis. Br J Ophrha/mo/2005;
or medical management for carotid artery dissection 89:1442-1444.
lnterventlonal radiology, vaSOJiar surgery, and/or
neurosurgical consultation for carotid artery
dissection or aneurysm for possible angioplasty and
carotid artery stenting
Oncology or infectiOU5 disease consultation for
neoplastic or infectious etiology
Pediatric oncology consultation for neuroblastoma
Pulmonology consultation for management of
sarmidmis or Iung mass.
Owloplastic consultation for ptosis repair
347
HYPERTENSIVE RmNOPATHY
Julie M. Rosenthal
Sunir Garg
~ BASICS
ETIOLOGY Findings from chronic hypertension.
Essential hypertension -Arteriolar narrowing~ecreased artery to vein
Hypertension secondary to eclampsia, renal artel)' ratio (normal is 2:3).
DESCRIPTION stenosis, and other systemic conditions -Copper wiring-light reflex widens and the vessel
~ystemic .hypertens~on leads to characteristic changes takes on the appearance of copper wire.
mthe ret1na, choro1d, and optic nerve. It can be COMMONLY ASSOCIATED CONDITIONS - Silver wiring occurs when the vessel becomes so
divided into acute and chronic findings Diabetes narrow that blood flow through the artel)' is not
Hyperlipidemia visible on ophthalmoscopy.
Atherosclerosis - Arterior-venous nicking occurs when the artery
In women of child-bearing age with uncontrolled
Retinal artery macroaneui)'Sm compresses the vein in their common adventitial
hypertension, check pregnancy status as these
Branch vein or artel)' occlusion sheath (Gunn sign).
patients may have eclampsia/pre-eclampsia.
Stroke -Vein may be deflected as it crosses the arteriole
EPIDEMIOLOGY Cognitive decline (Salus sign).
Incidence Possible increased risk of coronal)' artery disease - Microaneui)'Sms
6.0% of patients in Beaver Dam Eye Study Age-related macular degeneration---11ossible link DIAGNOSTIC TESTS & INTERPRETATION
developed hypertensive retinopathy (1).
Glaucoma---11ossible link Lab
-Arterial narrowing was seen in 9.9% of patients.
- AV nicking was observed in 6.5% of patients (1).
Initial lab tests
Prevalence ~ DIAGNOSIS Blood pressure measurement.
Occurs in 2-15% of people older than 40 years of In patients with diabetes. controlling blood pressure
age. HISTORY
May or may not have diagnosis of hypertension/ decreases the risk of progression of retinopathy (3).
Greater in African American than Caucasian elevated blood pressure.
population. Imaging
Many will have no histol)' of eye disease. Initial approach
No reliable association with age or gender (2).
PHYSICAL EXAM None needed unless secondal)' cause of blood
RISK FACTORS Findings from acute, accelerated or malignant, pressure elevation is suspected.
Elevated systolic and diastolic blood pressure. hypertension Fluorescein angiography may demonstrate
Diabetes. - Fibrinoid necrosis of choroid/retinal pigment microaneui)'Sms. retinal telangiectasias.
Genetics ~pithelium causes a deep, yellow- gray whitening retinalfchoroidal ischemia. and diffuse capillary
!here are likely multiple genetic factors that play a role mthe acute phase and/or optic nerve leakage.
mthe development of hypertension. - later these areas become hyperpigmented and are Follow-up It special considerations
called Elschnig spots. Hyperpigmented flecks that Close monitoring of both systolic and diastolic blood
GENERAL PREVENTION are arranged in a linear fashion (following areas of pressure is essential.
Maintenance of normotensive blood pressure.
choroidal infarction) are called Siegrist streaks. Many acute changes may resolve with treatment of
Antihypertensive medication. - Optic disc edema-this can result from ischemia blood pressure.
Regular blood pressure monitoring. to the optic nerve to intracranial hypertension.
PATHOPHYSIOLOGY must be present for diagnosis of malignant
The Scheie classification of hypertensive retinopathy
As blood pressure rises, retinal blood vessels hypertension.
is the following:
undergo vasoconstriction. - Retinal hemorrhages, which may be ranging from
-Grade 0: Normal fundus
Over time. the blood vessel walls thicken. mild intraretinal hemorrhages to severe
-Grade 1: Mild arteriolar narrowing
The blood-retinal barrier becomes compromised, subinternallimiting mimbane or subretinal
-Grade 2: Obvious arteriolar narrowing with focal
leading to exudation and ischemia. hemorrhage vessel irregularity
- Cotton wool spots -Grade 3: Grade 2 with exudates or hemorrhages
- Serous retinal detachment (4).
-Grade 4: Grade 3 with optic disc edema
348
HYPERTENSIVE RETINDPATliY
DIFFERENTlAL DIAGNOSIS 3. The UK Prospective Diabetes Study Group. Tight

Diabetic retinopathy ONGOING CARE blood pressure control and rtslt of macrovascular
Radiation retinopathy and mlaavasa~lar complications In type 2 diabetes:
Juxtafoveal telangiectasis FOLLOW-UP RECOMMENDATIONS UKPDS 38. Br Med J (Ciin Res Ed) 1998;317:
Blood pressure should be closely monitored by the 703-713.
Retinal artery oalusions
primary care doctor. 4_ Dellacroc:e JT, V"rtale Al Hypertension and the eye.
Vasa.!litis (lupus, Iyme disease, sarmidosis)
Patients should undergo regular dilated fundus CUff Opn Ophtha/md 2008;19(6):493-498.
Giant cell arteritis exam lnatlon to rule out the abow complications.
DIET ADDI110NAL READING
. TREATMENT For salt-responsive patients. diets low in salt may aid
in blood pressure lowering. Chabanlan AV, Bakrts GL, Bla~ HR, et al. Sevenlt1
MEDICATION
PATIENT EDUCAnON report of the joint national committee on prevention,
FimLine detection, evaluation, and treatment of high blood
Oral antihypertensive meditations. Inform patients of the need to maintain a
normotensive blood pressure and to regularty take pressure. Hypertension 2003;42:1206-12 52.
SecondUne their blood pressure medications to reduce their ris~ of
Intravenous antihypertensive meditalian. visual complications.
PROGNOSIS
. CODES
General Measures Patients who maintain their blood pressures at a
Treatment should be initiated with direction from the normotensive level, with drugs, diet or otherwise, ICD9
primary care physician. usually maintain excellent vision. 362.11 Hypertensive retinopathy
Issues for Rafamtl COMPUCAnONS
All patients with suspected hypertensive retinopathy Retinal vein occlusion CLINICAL PEARLS
should be reierred to their primary doctor for further Retinal artery maaoaneurysm (women > men)
worltu p and treatment. Hypertensive retinopathy is a common finding in
Retinal anertal occlusion those with elewt:ed blood pressure. It can be dMded
Patients with signs of malignant/acute hypertension
may require emergency inpatient stabilization. Optic nerve ischemiafneuropathy into chronic and aarte changes.
In young women wtth otherwise uneJII)Ialned
REFERENCES hypertensive retinopathy, consider pre-eclampsia as
Initial Stabilization a cause and obtain an urine pregnancy screen.
Blood pressure lowering medications (see earlier}. 1. Klein R, Klein BEK, Moss SE.lhe relation ofsystemic
Admission Ctlterla hypertension to changes in the retinal vasculature.
I
Hypertensive emergency/malignant hypertension Trans Am Ojiltha/mol Soc 1997;95:329--348.
(diastolic blood pressure > 120, with end-organ 2. Wang TY, Mitchell P. Hypertensive retinopathy.
damage, v.t11ch lndudes optic disc edema. NEng JMed 2004;351(22):2310-2317.
349
HYPHEMA
Michael A. DellaVecchia
~ BASICS
DESCRIPTION
PHYSICAL EXAM
Rule out ruptured globe/ intraocular foreign body
(IOFB)
Take baseline examination: Va, lOP. Slit Lamp Exam
rJ TREATMENT
Blood in the anterior chamber (segment). (SLE), Dilated Fundus Exam (DFE) General Measures
GENERAL PREVENTION Clotted, layered, or suspended blood in the anterior Treatment is directed to
Safety eyewear protection chamber which is best visualized by slit-lamp Stabilize the patient
examination Stop bleeding
PATHOPHYSIOLOGY
Bleeding from the structures of the anterior segment DIAGNOSTIC TESTS & INTERPRETATION Stop strenuous physical activity
of the eye; for example, an iris tear, iridodialysis, or Lab Shield eye from further trauma with clear eye shield
cyclodialysis secondary to trauma and rarely from Initial examination and testing is intended to assess or safety spectacles. Do not block vision with
vascular abnormalities or bleeding diaphyses. the degree of visual compromise, possible additional patches and so on because the patient must be able
ocular injury, and establish a baseline to monitor to assess changes in his/her vision
ETIOLOGY
resolution or progression of the hyphema. Promote healing
Usually associated with trauma; including intraocular
manual and laser surgery. Visual acuity (VA) Have the patient remain upright with bed rest at
Intraocular pressure (lOP) 30 degree angle to have the blood settle and clot.
COMMONLY ASSOCIATED CONDITIONS Measurement of clot. layer, or degree of suspended This will help the patient's visual acuity and promote
Hematodyscrasias and coagulopathies (pathologic blood to monitor resolution or rebleeds aqueous fluid drainage. In a pediatric or poorly
and pharmaceutic) compliant patient, bed rest may be advisable.
Blood studies as indicated
Intraocular neoplasm and infections Decrease inflammation
Imaging
Initial approach A penetrating topical steroid (e.g., prednisolone
~ DIAGNOSIS If a rupture globe or IOFB is suspected, direct
visualization and/or imaging to include ultrasound
acetate 1%) 4--8 x/day. If there is an associated
corneal abrasion, use with caution or begin after
HISTORY (careful ifthere is possibly an open globe) and CT. MRI epithelialization occurs.
When nonsurgical trauma is suspected, a definitive is contraindicated in cases of possible metallic IOFB's. Avoid complications
history of the mechanism should be acquired. This Vegetable matter, such as wood, may be difficult to Synechiae- keep the eye dilated. This also helps to
should include the description of the object, its image. immobilize the iris, which may be a location of
momentum and direction, and the exact location of bleeding. Long acting dilation with Atropine 1%,
impact. For example: A fist of a large assailant with Homatropine 2%, or scopolamine 0.2 5 % are
Direct at monitoring resolution of hyphema and
a side strike to the brow versus a forceful explosion generally used b.i.d.
avoidance of complications such as pressure rise,
with sharp shrapnel hitting the globe directly while
rebleeds, and corneal staining.
not wearing spectacles
Inquire about predisposing factors. such as Diagnostic Procedures/Other
anticoagulants or conditions that may cause a Bscan imaging if visualization is poor
bleeding diathesis UBM if more detailed imaging of the anatomical
angle is needed
Clotted, layered, or suspended blood in the anterior
chamber, which is best visualized by slit-lamp
examination.
350
HYPHEMA
PressuII! rise Ami nocaproic acid is Sl!ldom used and is usually IN-PATIENT CONSIDERATIONS
1his may he delayed and transient as the RBC's are reserved for hospitalized pediatric patients who ln~l Stablllutlon
fllterlng through the trabecular meshwork. lnltladon have had rebleed episodes. Rule out ruptured globeJIOFB
of treatment should be based on the extent and CorneaI blood staining. A late but gravid Take baseline examination: va, lOP, SLE. DFE
dura'lion of the pressure rise as Wl!ll as the patient complication whereby hemoglobin and iron from o Stabilize 10Pif necessary
profile for optic nerve risk factors. lysed RBC'sentetsthe corneal stroma. Generally a
Appropriatl! patients should bl! scrl!l!nl!d for sidde
cell disease/trait (Siddedex test) or other
hemoglobinopathies (hemoglobin electrophoresis)
result of a longstanding largl! hyphl!ma in a
hypertensive eye. Patients at risk for this
complication should be evaluated for an anterior
$ ONGOING CARE
because of possible complications from some chamber wash out. FOLLOW-UP RECOMMENDATIONS
phanmacologic agents. such as brinzolamidl! (Azopt) Pa~t Monitoring
& dorzolamide (Trusopt) topically and systemic The padent should be observed undl there Is
o Shield the eye at all times with protective spectades
diuretics. resolution of the hyphema, cessation of therapy, and
or eye shield- induding when at rest
Beta blockers are generally used as an lnltlaI agent the pupils rerum to nonmaI size and function.
Limit physical actMty for 1week after resoludon of Gonioscopy should be performl!d. Follow-up should be
Alpha antagonists are used with caution because of the hyphema.
systemic side effects. at 6 months initially, then annually for evaluation of
o Keep the head eleYated to promote RB Csettlement;
angle recession glaucoma.
Oral diuretics if topical ml!thods of antiocular induding 30 degree bed rest
h)pertl!nsivl! therapy all! in l!ffi!Ciive. Avoid agt!nls o Antiemetics for nausea and vomiting and stool
that may promote sickling In patients at rlsk. softeners to prevent Valsalva. ADDI110NAL READING
Avoid prostaglandin analogs, due to their promotion Avoid aspirin products or NSAJOS as an analgesic
of intraocular inflammation effects. because of bleeding tendl!ncies. Ehlers JP, Shah CP. (eds). The Wills Eye Manual, 5th
Anterior chamber paracentesis is controversial in (ed}. Uppincott Williams & Wil~ins, Philadelphia,
hyphema.lt requires an extremely coopera'live SURGERY/OTliER PROCEDURES 2008:19--2 3.
patient Anterior chamber structures are poorly If surgical washout of !hi! arrll!rior chamber (AQ is
vtslble, the procedure may result In a secondary Indicted, the patient should be prepared according to
reblel!d, and the effects are tern porary. Intraocular surgery protocols. lr~gatlon and asplradon . CODES
of the AC is cautiously performed to evacuate
hematologic contents without disrupting ocular ICD9
structures cr tearing clots and causing a rebleed. 364.4t Hyphl!ma of iris and ciliary body
351
HYPOTONY
Marlene R. Moster
Parul/chhpujani
~ BASICS
Unilateral hypotony is seen with the following: Lab
-Wound leak Initial lab tests
DESCRIPTION - Overfiltering or inadvertent bleb Hypotony is usually diagnosed based on only the
"Statistical" hypotony can be defined as an - Cyclodialysis cleft history and the physical examination.
intraocular pressure {lOP) less than 6.5 mm Hg, - Inflammation-Iridocyclitis or trauma In patients with undiagnosed but suspected uveitis,
which corresponds to more than 3 standard - Retinal detachment evaluate for systemic inflammatory disease.
deviations below the mean. - Ocular ischemia especial~ if the condition is recurrent
"Clinically significant" hypotony represents the - Scleral perforation with needle or suture, or scleral In patients with bilateral hypotony, test for glucose,
condition where the lOP is low enough to result in rupture following trauma BUN, and creatinine
visual loss. - Chemical cyclodestruction from antimetabolites
-Photocoagulation or cryoablation of the ciliary Imaging
EPIDEMIOLOGY body Initial approach
lnddence - Pharmacologic aqueous humor suppression B-scan ultrasonography: Useful when the fundus
Transient hypotony: Common following Bilateral hypotony is seen with the following: is not easily visualized. It can help in determining
glaucoma surgery, surgeries involving a pars plana -Systemic hypertonicity or acidosis-dehydration, the size and the extent of ciliochoroidal detachment.
approach, or following trauma. The rate of hypotony uremia, uncontrolled diabetes. or use of choroidal hemorrflage. and retinal detachment.
following uncomplicated cataract surgery is hyperosmotic agents Ultrasonic biomicroscopy or anterior optical
extremely low. The incidence of hypotony following coherence tomography (ASOCT): These can
- Myotonic dystrophy
trabeculectomy increases with the use of antifibrotic help to further evaluate the anterior chamber depth,
agents such as Mitomycin-C. COMMONLY ASSOCIATED CONDITIONS the position of the ciliary body, and the presence of
Chronic hypotony: Hypotony leading to phthisis is Direct trauma with undiagnosed eye wall perforation. anterior ciliary detachment or cyclodialysis cleft.
rare and occurs only in eyes with severe damage. OCT: OCT scan of the posterior pole can help to
RISK FACTORS
Young, male, myopes (low scleral rigidity).
<;) DIAGNOSIS better demonstrate subtle macular fluid or folds.
Follow-up i special considerations
Uveitis. HISTORY OCT to see resolution of macular fluid and folds of
Recent trauma or surgery. especially primary the choroid
GENERAL PREVENTION glaucoma surgery with antimetabolites Close and frequent follow-up for uveitic patients
Hypotony following glaucoma surgery can be Blurred vision and diabetics
prevented in several ways. Eye pain (usually a deep ache), especially with
- Exposure time and the concentration of Diagnostic Procedures/Other
choroidal detachment (hemorrhagic choroidal
antimetabolites can be reduced, if used. Fluorescein angiography is helpful in demonstrating
detachment can cause extreme pain)
- Using releasable sutures or placing extra sutures in the chorioretinal folds. which in relatively mild degrees
the trabeculectomy flap may prevent overiiltration. History of eye inflammation or systemic illnesses may be overlooked.
- For tube shunts, choosing a valved device or predisposing to uveitis
Signs and symptoms associated with retinal Pathological Findings
modifying the shunt with a ligature suture can Corneal changes
slow drainage. detachment
Accelerated cataract formation
- Leave the anterior chamber inflated with PHYSICAL EXAM Choroidal fluid
viscoelastic at the end of the case. Seidel positive wound leak
-Aggressive use of anti-inflammatory agents can Choroidal folds
Large bleb following trabeculectomy or tube shunt
help prevent the cycle of iridocyclitis and hypotony. Maculopathy with disturbance of the retinal
Shallowing of the anterior chamber pigment epithelium (RPE)
PATHOPHYSIOLOGY Corneal edema and decompensation Cystoid macular edema
Hypotony occurs when aqueous humor production Synechiae formation Optic disc edema
does not keep pace with outflow. Corneal astigmatism
Impaired outflow: Outflow may be greater than Inflammatory cells and flare in the anterior chamber DIFFERENTIAL DIAGNOSIS
usual, as seen with wound leak. overiiltering bleb, Idiopathic chorioretinal folds
Accelerated cataract formation
or cyclodialysis deft. Choroidal detachment
Cyclodialysis cleft
Impaired production: Conditions that alter ciliary Ciliochoroidal detachment~rous or hemorrhagic Postoperative endophthalmitis
body function, such as iridocyclitis, tractional Scleral inflammation
Hypotony maculopathy
detachment, or hypoperfusion. Uveitic glaucoma
Retinal folds
Role of inflammation: It causes increased Hyphema
permeability of the blood-aqueous barrier. Vascular engorgement and tortuosity
Corneosclerallaceration
Altered equation of conventional and Optic disc swelling
Postoperative retinal detachment
uveoscleral outflow: Flow through the Retinal detachment
Rhegmatogenous retinal detachment
conventional route ceases when lOP declines below
Tractional retinal detachment
the episcleral venous pressure, usually 9 mm Hg.
Therefore, uveoscleral outflow predominates at low Uveitis
lOPs.
Choroidal fluid is believed to accumulate as a result
of enhanced uveoscleral outflow and decreased
aqueous humor production, a cycle that is often
perpetuated once choroidal effusions develop. A
ring of anterior choroidal fluid can cause forward
rotation of the ciliary body, impairing aqueous
humor production.
352
HYPOTONY

. TREATMENT o Treatment of wound leaks: Prognosis varies with the cause and the extent of
o Sma II wound leaks with a well-formed anterior ~tony.
MEDICATION chamber. Conservative management with patching COMPUCA.TlONS
FirstUne or a large diameter bandage contact lens CorneaI deoompensation, synechiae, cataract
o Hypotony is best managed by correcting the o Focal leak: Cyanoacrylate glue application with a formation, and chronic retinal edema or folds may
under~ing problem. The anterior chamber may be mntact lens placed over the glue occur.
reformed with viscoelastic as a temporizing measure. o Large wound leaks causing dinically significant o If suprachoroidal hemorrhage develops, the results
o Steroids may improve aqueous humor production by hypotony: Surgical revision using a round bodied may be catastrophic for the eye; however dose
decreasing ciliary body inflammation. needle to prevent leaks from sut1Jre tracts observation and drainage aiter 10 days when the
o Atropine and other cyclopleg ics deepen the anterior o Cyclodialysis cleft: Treatment options indude argon blood is Iiqueiied will often yield an excellent result.
dlamber to lessen iri!i-CDmealtouch. laser photocoagulation, cryotherapy, and dllary Prolonged h)potony may lead to pre-phthisis or
body suturing. phthisis bulbi.
SecondUne
Dr.~lnage of the choroidal detachment o Conjunctival flaps can work well for diffusely
o Tighten the sclera flap with additional sutures or

inmmpetent blebs due to tissue thinning and
revise the trabeaJiectomy. avasa.~Ia~ty. REFERENCES
Tie off the tube shunt with a permanent or For chronic hypotony, surgical wound revision with
resuturing of the flap, and/or conjunctival 1. Fine HF, Biscette 0, Chang S, Schiff WM. OOJiar
dissolving suture. hypotony: A revtew. Compr Ophrhalmo/ Updare
advancement or autograft Is the procedure of choice.
o Large bandage mntact lens for seidel positive leak 2007;8(1 ):29-37.
in the bleb or at the limbus Treatment of uveitis:
2. Costa VP, Wilson RP, Moster MR. Schmidt CM,
o Patching after atropine
Anti-inflammatory agents are the mainstay of
Granaham S. Hypotony maculopalhy following the
treatment lntr.Mtreal steroid Injections can be tried use of topical mitomycin C in glaucoma filtration
Systemic medications far treatment of iridocyclitis
in prephthisical eyes. surgery. OfilthalmicSurg 1993;24:389-394.
o Repair r;ydodialysis deft if present.
Surgical removal of a tyditic membrane may release
tractionaI detachment of the ciliary body.
3. FannIn LA, Schiffman JC, Budenz DL. Risk factors
ADDITIONAL TREATMENT for hypotony maculopathy. Ophthalmology
General Measures Vitrectomy and placement of silimne oil may be 2003;110:1185-1 191.
The patient should avoid lifting, bend lng, and useful in refractory cases.
strenuous activity. Sudden movement or straining INPATlENT CONSIDERATIONS
could cause a vessel, which already is stretdled in This condition can be monitored and treated as an ADDITIONAL READING
the suprachoroidal space, to bleed and create a outpatient
suprachoroidal hemorrhage. Leen MM, Mills RP. Ophthalmic surgery; Principles
The patient should avoid any direct pressure on the and practice. 3rd ed. Phi lade!phia, PA: Saunders,
I
eye that could cause further demmpression. ONGOING CARE 2003,379.
An eye shield at bedtime Is advisable.
FOLLOW-UP RECOMMENDATlONS
Issues for Referral close observation of visual acuity. The patient should @; coDES
o Unresolved macula folds report subjective improvement as the hypotony
Persistent wound leak resolves. ICD9
Cyclodialysis repair Patient Monitoring 360.30 Hypotony of eye, unspeclfted
Kissing choroidals Every few days if the chamber is shallow or flat, or if 360.31 Primary hypotony of~
Flat chamber with touch of the iris to the edge of there Is a wound leak. When a bandage lens Is In 360.33 Hypotony associated with other ocular
the pupil or involving the pupil with corneaI folds place. the treatment involves coverage with a topical disorders
and demmpensation fluoroquinolone q.i.d.
Additional Therapiffs DIET
Nonsteroidal medications topically and orally to Patients at risk for hypotony should maintain good CLINICAL PEARLS
decrease inflammation and avoid papillary hydration.
membrane formation Modifications of the surgical technique. such as
PATlENT EDUCATlON tighter scleral flap suturing and postoperative
Immediate reformation of the anterior chamber w1tl1
Educate patients about the cause and the graduaI inaease in outflow with laser suture lysis or
viscoelastic if the chamber is !lilt and invohring the
implications of this mndition. Better understanding releasable sutures. shou kl be used to avoid
pupiI or if there is mmeal decompensation
may help the patient to be mare compliant wtth overfiltration and the occurrence of hypotony
COMPLEMENTARY ._ALTERNATIVE treatment and follow"p care. maculopathy.
THERAPIES Patients should also be warned thi!l improvement in
Enmurage oral hydration. visual acuity often lags behind the resolution of
Laxatives and avoid Valsalva to deaease !he chance hypotony.
of a suprachoroidal hemormage when the eye is
hypotonus.
353
IDIOPATHIC JUXTAFOVEAL RmNAL TElANGIECTASIA
Adam T. Gerstenblith
Marc Spirn
Endothelial cell and pericyte degeneration with retinal
capillary narrowing
DESCRIPTION HISTORY
Idiopathic juxtafoveal retinal telangiectasia (IJRT} is Unilateral or bilateral disruption of central vision DIFFERENTIAL DIAGNOSIS
characterized by the presence of small perifoveal or Various vascular disorders may mimic IJRT
PHYSICAL EXAM including:
parafoveal telangiectatic retinal vessels in the Slit-lamp examination:
absence of an identifiable systemic or ocular - Diabetic retinopathy
- Peri- or parafoveal dilated, tortuous, and irregular - Retinal vein occlusion
disease. capillaries seen most often in the temporal macula
-Typically occurs temporal to the fovea - Radiation retinopathy
- Right-angle" veins may be seen draining the - Carotid-occlusive disease
- May be scattered throughout the macula telangiectatic areas. - Sickle cell retinopatfly
Classified on the basis of biomicroscopic and - Small refractile deposits on the surface ofthe - Coats' disease
rJ
fluorescein angiographic appearance into 3 groups retina
(1 ,2,3) and 2 sub-groups (A and B) - Retinal pigment epitflelial hyperplasia may
EPIDEMIOLOGY develop in long-standing disease. TREATMENT
Incidence DIAGNOSTIC TESTS & INTERPRETATION SURGERY/OTHER PROCEDURES
Rare Imaging laser photocoagulation may improve the macular
Prevalence Intravenous fluorescein angiography (IVFA) edema (3)[C].
Unknown demonstrates the abnormal retinal vessels and may -This treatment is limited in IJRT due to the
also show: proximity of the lesions to the fovea.
RISK FACTORS -Areas of leakage or capillary occlusion For treatment of CNV:
No clear risk factors identified - Presence of CNV - Anti-VEGF agents (ranibizumab and bevacizumab)
PATHOPHYSIOLOGY OCT shows: and photodynamic therapy (PDT} may be
Multifactorial visual loss -Areas of hyporeflectivity representing cystic beneficial, although large studies are lacking
- Macular edema from vascular leakage intraretinal spaces (4,5)[C].
- Retinal ischemia from capillary occlusion - lntraretinal and subretinal fluid as well as outer
- Secondary choroidal neovascularization (C NV) retinal atrophy, particularly in IJRT group 2A
ETIOLOGY
Not well understood
- May be a result of retinal Muller cell dysfunction
Most often an isolated condition
An association exists with abnormal glucose
metabolism (2).
354
IDIOPATHIC JUXTAFOVEAL RETINAL T!LBGIECTASIA
COMPUCATlONS 4. Konstantin idis L. Mantel I, Zografns l, et al.

ONGOING CARE Macular edema lntr.lllttreal ranlblzumab as primary treatment for
Macular Ischemia neovascular membrane assodated with idiopathic
FOU.OW-UP RECOMMENDA110NS Choroidal neovascularization juxtafoveal retinaltelang iectasia. Graefes Arch Clin
Yea~y dilated fundus examinations at the EKp Ophtha/mo/ 2009;247(11):1567-1 569.
minimum 5. Kovadl JL. Rosenfeld PJL Bevadzumab (avastin)
- Should complications sud! as macular edema or REFERENCES therapy for idiopathic maa.dar telangiectasia type
CNV develop, the patient should be referred to a II. Retina 2009;29:27-32.
retinal speda list for funher evaIuatlon and 1. GassJDM, Oyaltawa RT.Idiopathicjuxtafoveal
management with IVFA and/or OCT. retinal telangiectasis. Arch Ophthalma/ 1982;1 00:
769-780.
l'atlent Monitoring
2. Milay RH, Klein ML. Handelman II.. et al Abnormal
. CODES
Patients should be counseled to return to the
ophthalmologist If any cl1anges In 'lfslon occur. glucose metabolism and parafoveal telangiectasia.
Am J 0/ilthalmo/1986; 102:363. ICD9
PROGNOSIS 362.1 s Retinal telangiectasia
3. Chopdar A. Retinal telangiectasis in adults:
Vision is normaI or only mildly arllected in the Fluorescein angiographic findings and treatment by
absenCl! of macular edema, macular isdlemia, or argon laser. Br 1 Oi/lthalmo/ 1978;62:243-250.
(NIJ.
CLINICAL PEARLS
- The extent of vision loss is directly correlated with Idiopathic condition characterized by abnormal
the development and severity of the telangiectatic capillaries most often located in the
above-mentioned complications. temporaI macula
Unilateral or bilateral presentation
Complications indude macular edema, maOJiar
ischemia, and cl1oroidal neovascularization
355
IDIOPATHIC ORBITAL INFlAMMATORY SYNDROME [ORBITAL
PSEUDOTUMOR]
Katherine A. Lane
Jurij R. Bilyk
Orbital biopsy may not be required for diagnosis:
- Should be attempted in patients who present in
DESCRIPTION HISTORY an atypical fashion, in patients who do not
Idiopathic orbital Inflammatory syndrome (lOIS) is a The 'classic' presentation Includes the abrupt onset respond to corticosteroid treatment, and in
nonspecific inflammation of orbital tissue with no of one or more of the following signs and patients with recurrent episodes of inflammation
identifiable local or systemic cause. symptoms: - A low threshold for biopsy is also indicated in
lOIS is a diagnosis of exclusion, made only after - Periorbital pain. Absence of pain is an atypical patients with a known history of local or distant
other entities have been ruled out. feature of lOIS. malignancy.
lOIS can involve any orbital tissue individually or in -Diplopia - Some experts will also perform biopsy on all
combination; often subcategorized based on - Visual changes patients presenting with lacrimal gland
anatomic location of inflammation: There may be a history of autoimmune disease. inflammation, because this area Is easily
-Myositis Complete review of systems. including the presence accessible and, on occasion, a malignancy can
- Dacryoadenitis of constitutional symptoms (particularly in children), present with secondary Inflammation.
- Posterior scleritis history of malignancy, respiratory symptoms.
- Inflammation of the orbital fat autoimmune disease, or immunosuppression Nonspecific paudcellular Infiltrate of lymphocytes,
- Inflammation of the orbital apex PHYSICAL EXAM plasma <Ells, and histiocytes, and varying degrees of
EPIDEMIOLOGY Complete ophthalmic and orbital exam. Some or all fibrosis
Incidence of the following may be seen: DIFFERENTIAL DIAGNOSIS
Unknown - Boggy eyelid edema Acute bacterial cellulitis: This Is especially important
Accounts for -5% of orbital disorders - Erythema, which is usually more pink than red to rule out in children before beginning
-Conjunctival chemosis and/or injection corticosteroid therapy.
Peak incidence between 40 and 60 years of age, but -Proptosis
may occur at any age - External ophthalmoplegia Sarcoidosis
Prevalence - Choroidal detachment and optic disc swelling may Wegener granulomatosis
Unknown be seen in cases of posterior scleritis. Lymphoproliferative disease, Including lymphoma
Children may present with bilateral findings, either Tolosa-Hunt syndrome
RISK FACTORS
No clear ris~ factors simultaneously or sequentially. Benign neoplasm
On occasion, patients with lOIS also have or develop Malignancy: primary or metastatic
other autoimmune diseases. This may simply be an Thyroid eye disease
Lab
epiphenomenon.
lOIS never progresses to lymphoma.
Genetics
No known hereditary pattern
Initial lab tests
Baseline serologic work-up may include:
- CBC with differential, ACE, cANCA, ANA. SPEP,
and serum lactate dehydrogenase
rJ TREATMENT
MEDICATION
Follow-up & spedal considerations FirstUne
GENERAL PREVENTION Follow-up with primary care doctor ( rheumato- Oral corticosteroids:
None known logist) if lab studies reveal positive findings. - Starting dosage of 1.0-1.5 rnglkg/day
PATHOPHYSIOLOGY Imaging -A prompt and complete response is expected, and
The signs and symptoms of lOIS most likely All cases of clinically suspected lOIS require orbital may be considered part of the diagnostic
represent the clinical manifestations of a variety of inaging. The diagnosis of lOIS should never be algorithm.
autoimmune and cell-mediated prOO!Sses for which made on clinical grounds alone. - Symptom rebound during steroid taper may occur
the trigger(s) has yet to be determined. and may respond to a slower taper.
CT - Inflammation not sensitive to the effects of
There is no evidence that lOIS is part of the - Focal or diffuse mass. poorly demarcated, which
spectrum of lymphoproliferative diseases (see Ocular steroids or an inability to taper off steroids is
enhances with contrast
Adnexal lymphoma chapter). oonsidered 'atypical', and alternative diagnoses
- Bone erosion is highly atypical for lOIS.
should be sought.
ETIOLOGY MRI - Note that a course of corticosteroids may mask
See pathophysiology - T1: low signal intensity the true diagnosis if biopsy is needed at a later
- T2: increased signal Intensity date. This is particularly true for Inflammatory
COMMONLY ASSOCIATED CONDITIONS - Gadolinium: + homogenous enhancement
Idiopathic (e.g., sarcoidosis) or lymphoproliferative lesions.
Echography
Possible associations have been reported with - Not widely used, but may be very useful for Second Line
Crohn's disease, systemic lupus erythematosus. suspected posterior scleritis: scleral thickening Parenteral corticosteroids
rheumatoid arthritis, diabetes, and ankylosing with a squared-off optic nerve entry (T-sign) may - Often reserved for cases of lOIS-related optic
spondylitis. This may be an epiphenomenon. be seen. neuropathy
Non-steroidal anti-inflammatory medications:
-Typically used as bridging therapy at the tail end
of the corticosteroidtaper in patients who re-flare
at lower corticosteroid doses
- Some experts advocate the use of NSAIDs as
first-line therapy.
356
IDIOPATHIC ORBITAL INRAMMATORY SYIIDROME (ORBITAL PSEUDOTliMOR)
Local intralesional corticmll!roid injections (off-label Lane KA. Bilyk JR. Current concepts in the diagnosis
use of t~am clnolone acetonlde) ONGOING CARE and management of Idiopathic orbltallnflammatlon.
- May be used in cases of local inflammatart In: Guthoff R, Katowtiz JA. eds. Essentials in
masses or dacryoadenitis. FOLLOW-UP RECOMMENDATIONS ophthalmology: oculo{iastics and IJibit: Aesthetic
- Use is controversial because of potential side Long-term follow-up is recommended after the and fundlonal oruJofadal fiast!c problem-solving In
effects and risks of Injection. resolution of a patient's acute symptoms. as an the 21st century. Be~in: Spring-Verlag, 2010:47-63.
episode of 'idiopathic' orbital inflammation may be a
ADDITIONAL TliEATMENT harbinger of sysll!mic disease.
General Measures l'llfifmt llllonituring
Q Se1 Also {Topic, Algorllllm, Electronic
Observation: ~ Media Element)
- lnflam mation often resolves slowly without As required during the treatment period:
treatment. - Manitoring patient's response to treatment and Idiopathic Orbital Inflammatory Syndrome. Typical
treatment-related side effects, including blood and Atypical (algorithm)
lssws for Refwral sugar elevation
Referral for orbital biopsy should be considered in Bi-annuaI or annual follow-up after resolution to
cases that present in an atypical fashion, in patients monitor for signs of recurrence
with a hlstort of malignancy, or In those treated
. CODES
empirically with corticosteroids if: PATlENT EDUCATION
-Minimal or sub-total response to adequate lOIS is a diagnosis often made based on clinical ICD9
corticosll!roid treatment grounds, without pathologic confirmation. 375.00 Daayoadenltls, unspecified
- Relapse of symptoms - Patients must understand that they need to be 376.00 Orbital inflammation, unspecified
followed prospectively for the development of an 376.11 Inflammatory orbital pseudotumor
Additional Therapies altemall! diagnosis.
Orbital radiotherapy
- May be used In sterold-nslstant cases or those PROGNOSIS
unable to tolerate corticosll!roids Most patients respond well and completely to CLINICAL PEARLS
- Biopsy should be obtained prior to radiotherapy if treatment lOIS is a diagnosis of exdusion. The clinidan should
the tissue Is accessible without excessive - Patients with severe dlsease or multiple always maintain a degree of uneasiness with 1his
morbidity. recurrences may, in mre cases. develop ort:Jital dlagnosis and fo !low the patient over the long temn.
lmmuno-modulating agents may be used in scarring, permanent diplopia, or loss of vision. Typical features of lOIS include sudden, painful
steroid-resistant cases. but It Is preferable to obtain COMPLICAnONS onset varying degrees of extErnal signs of
tissue biopsy first. All therapies listed below are Treatment-related (see Treatment section) inflammation; orbital soft tissue infiltration with lack
off-label uses of the spedfic agent: Permanent ort:Jital scarring of bone erosion on imaging; and mpid, dmmatic
- Antimetabolites (e.g., methotrexate, azathioprine) response to appropriate systemic corticosteroid
Complications related to tissue biopsy (e.g., visual
- Allcylatlng agents (e.g., c:ydophosphamlde, therapy (algorithm).
loss, diplopia, hypesthesia, ptosis. infection)
chlorambucil) All other presentations should be considered
- Tcell inhibitors (e.g., cyclosporine, tacrolimus)
I
atypical and lower the threshold for tissue biopsy
-Biologic agents (e.g., infliximab, enteracept) ADDinONAL READING (algorithm).
SURGERY/OTliER PROCEDURES A history of cancer lowers the threshold for tissue
Harrls G. ldlopathlc omltallnflammatlon: A
Tissue biopsy for confirmation should be performed
pathogenetic construct and treatment strall!gy.
In aII atypical cases.
Ophtha/ Plast Reronrt Surg 2006;22:79-86. biopsy.experts advocall! biopsy of aII cases of
Some
The threshold for biopsy is lower in patients with a suspected Inflammatory dacryoadenitis.
history of rna lignancy. Yuen SJ, Rubin PA. Idiopathic orbital Inflammatlon: Systemic corticosll!roid therapy may mask
Distributions, clinical fearures and treatment pathologic processes on subsequent tissue biopsy.
Some experts will biopsy aII cases of inflammatory outcome. Atd! Ophtha/mo/ 2003; 121 :491-499.
daayoadenltls.
Rose GE. A personal view: ProbabiIity in medidne.
Complete excision is typically not needed and is. levels of (un)certainty, and the diagnosis of orbital
usually, technically not feasible without significant disease (with particular reference to orbital
locaI morbidity. pseudot\Jmor"). Atdl Ophthalmol
IN-PATIENT CONSIDERATIONS 2007;125: 1171-1172.
Admission Criteria
Com orbidities (e.g., brittle diabetes) which preclude
the use of corticosteroids on an outpatient basis
Postoperative obselvation following deep orbital
biopsy
IV Fluids
As needed for inpatient corticosll!roid therapy.
Nursing
As needed for inpatient corticosll!roid therapy or
postoperative care
Discharge Criteria
Response to therapy and stability of comorbidities
357
INTERMEDIATE UVEITIS AND PARS PLANITIS
Fatima K. Ahmad
Fluorescein angiography is helpful in determining
presence of cystoid macular edema (CME), retinal
DESCRIPTION HISTORY phlebitis, and neovascularization.
Intermediate uveitis (I U) is inflammation primarily, of Patients present with floaters and decreased vision Ultrasound biomicroscopy (UBM) can demonstrate
the anterior vitreous, ciliary body, and peripheral Usually a white, quiet eye, but patients can pars plana exudates and vitreitis in cases with small
retina. experience redness and photophobia (more pupil
Pars planitis is a subset of IU for which there is no commonly in children). Diagnostic vitrectomy may be needed in cases
associated infection or systemic disease. PHYSICAL EXAM where there is suspicion of intraocular lymphoma,
EPIDEMIOLOGY Anterior vitreous cellular reaction endophthalmitis, or in cases refractory to medical
1U comprises ~ 15% of all cases of uveitis Snowballs, which are aggregates of vitreous cells therapy
No gender predisposition Snowbanks, which are inflammatory pars plana Pathological Findings
Bilateral in 7o-90% of cases, but can be asymmetric exudates, typically found inferiorly Histologic findings show lymphocytic infiltration of
Pars planitis accounts for 85-90% of intermediate -Tends to indicate more severe disease retinal veins
uveitis Vascular tortuosity and peripheral retinal phlebitis Pars plana exudates consist of fibroglial tissue with
- It has a bimodal distribution; the younger age Pediatric Considerations inflammatory cells
group is 5-15 years, and older age group is In children, IU tends to cause greater anterior chamber DIFFERENTIAL DIAGNOSIS
2D-40 years inflammation Primary central nervous system lymphoma
RISK FACTORS DIAGNOSTIC TESTS & INTERPRETATION Endophthalmitis
Genetics Lab Other uveitic conditions, including
Pars planitis has been shown to be associated with Complete blood count (CBC) with differential count Vogt-Koyanagi-flarada disease and Fuch's
HLADR15 and HLADR51 heterochromic cyclitis
Erythrocyte sedimentation rate (ESR)
PATHOPHYSIOLOGY Purified protein derivative (PPD) skin test
The pathophysiology of IU/pars planitis is not well Angiotensin-converting enzyme (ACE) level, which
understood can be elevated in sarcoidosis
- It is probably an autoimmune reaction against an Consider serologic testing for Lyme's, syphilis, and
ocular antigen Bartonella
Peripheral retinal veins are the primary foci for
Imaging
inflammation
Chest Xray to assess for sarcoidosis and
COMMONLY ASSOCIATED CONDITIONS tuberculosis
Sarcoidosis - If chest X-ray is negative, consider gallium scan or
Multiple sclerosis computed tomography (CT) to rule out sarcoidosis
Infectious conditions if clinical suspicion is high
-Syphilis
-Tuberculosis
- Lyme's disease
- Toxocariasis
- HTLV-1
-Bartonella
Pars planitis has no associated systemic condition
358
INTERMEDIATE UYErTIS AND PARS PLANrTIS
ADDITIONAL READING
Bloch-Michel E. Nussenblatt RB. Intemational
MEDICATION FOLLOW-UP RECOMMENDATIONS Uveitis Study GlllUp recommendations for the
FirstUne Ophthalmology evaluation of intraocular inflammatory disease. Am J
o Treat underlying cause of disease if infectious Rheumatology or infectious disease spedalist. OfiJtha/mo/1987;103:234-235.
etiology is present depending on etiology Jabs DA, Nusenblatt RB, Rosenbaum JT.
o For other cases, corticosteroids are Indicated If PROGNOSIS Standardization of Uveitis nornendature (SUN)
pa'lient is symptomatic or has vision loss. IU generally has a chron lc course Yffth exacerbations working group. Standardiza'lion of uveitis
-Periocular corticosteroids are first line and remissions. although a small subset of patients nomencla'lure far reporting clinical data. Results of
-Oral corticosteroids is indicated if local therapy is have self-1 imiting disease the First International Workshop. Am J OpfHhalmol
ineffective, or if there is bilateral severe disease - Of aII subsets of uveitis, 1utends to have the 2005;140:509-516.
- lntraviln!aI injection far reflllctory cases longest duration, most cases last far 5-15 yeaB
Second Une but can be longer
o lmmunomodulatOIY therapy if corticosteroids fail or Visual outcome is related to severity of disease and . CODES
side effects cannot be tolerated presence of cME
- Melt1otrexate - Pars plana exudate indica'les poon!r prognosis ICD9
- Cyclosporlne Pars planitis has an overall favorable visual prognosis 363.21 Pars planitis
- Azathioprine 364.3 Unspedfied iridocyclitis
COMPLICATIONS
- Mycophenolate mofetil Chronic inflammation from IU can lead to CME.
- Tacrolimus
Cataracts result from both chron lc Inflammation and
SURGERY/OTHER PROCEDURES corticosteroid tl1erapy
o If drug therapy fails. cryotherapy and laser - Perioperative use of corticosteroids is needed to
photocoagulation can be performed to pe~pheral control inflammation.
retina for ablation of pars plana exudates and Glaucoma, botl1 angle dosure and open angle
neovascularization Band keratopathy
o Pars plana vitrectomy (PPV)for chronic inflammation PeripheraI retinal ni!OVliSI:ularization
or structural complications such as retina I Vitreous hemorrhage
detachment
Retinal detad1men!
- PPV is helpful in reducing CME
359
INTERNUCLEAR OPHTHALMOPLEGIA
Sarkis M. Nazarian

Strokes have been associated with 38%, MS with
34%, and unusual causes with 28% of INO cases in a
~ DIAGNOSIS
DESCRIPTION retrospective study in Los Angeles (2)[C] HISTORY
Internuclear ophthalmoplegia (INO) is an ocular Most patients with partiaiiNO are asymptomatic,
Genetics although they may complain of transient horizontal
motility disturbance manifest by intact abduction of
No genetic pattern diplopia during rapid eye movements.
ipsilateral eye but impaired adduction of
contralateral eye during ipsilateral horizontal gaze GENERAL PREVENTION -As skew deviation may accompany INO, patients
attempts. It is always named after the impaired Prevention consists of medical control of underlying may also complain of vertical or oblique diplopia.
adducting eye (i.e., a right INO is only observed with condition (e.g., stroke risk, MS). PHYSICAL EXAM
gaze to left). It is due to interruption of the pathway Attempt to gaze in contralateral direction of INO
PATHOPHYSIOLOGY
[medial longitudinal fasciculus (M LF)] from the results in normal abduction, but impaired adduction.
Demyelinating or vascular occlusion affecting the MLF
ipsilateral abducens nucleus to the contralateral This latter can range from inability to move eye past
in its course between the abducens and contralateral
oculomotor nucleus. The abducting eye usually midline to slower velocity of the adduction saccade.
oculomotor nucleus
develops coarse end-gaze horizontal nystagmus. The abducting eye often has coarse horizontal
Convergence is generally preserved. ETIOLOGY nystagmus.
- PartiaiiNO, manifest by slowed saccadic velocity The most common etiology of INO is MS, which
In one-and-a-half syndrome, contralateral gaze is
in the adducting eye. is much more common than often results in bilateraiiNOs. Asymmetric
impaired; attempts at ipsilateral gaze result in
fuiiiNO. involvement is the rule. abduction of ipsilateral eye only.
- If the lesion encompasses both MLFs and the eyes - In the elderly, small pontine or midbrain strokes
often lead to unilateral INO. In WEBINO. INO is seen with attempts to look in
are exotropic in primary position, the condition is
- Medications such as anticonvulsants. opioids, etc. either horizontal direction. Exotropia is usually
termed wall-eyed bilateraiiNO (WEBINO).
present, and convergence is usually impaired.
Convergence is usually lost with WEBINO.
COMMONLY ASSOCIATED CONDITIONS The presence of ptosis, fatiguable weakness, or
- If the lesion encompasses both the MLF and the
Multiple sclerosis other extraocular muscle weakness points to a
ipsilateral abducens nucleus/PPRF complex,
ipsilateral gaze palsy and contralateraiiNO occurs; Optic neuritis different etiology. The most common confounder of
the only normal movement is abduction of Small-vessel (lacunar) strokes INO is pseudo-INO. which is usually associated with
contralateral eye. This syndrome is called Brainstem hemorrhage myasthenia gravis.
one-and-a-half syndrome (3 of the 4 horizontal Brainstem tumors
half-movements, 2 in each eye, are affected). Trauma
EPIDEMIOLOGY Overdose of sedative medications
Incidence
No data available on incidence
Prevalence
INO prevalence in multiple sclerosis (MS) patients is
common; 30% of fifty patients in a VA clinic were
found to have INO. (1) (C). Exact prevalence is
unknown.
360
UITERNUClfAR DPHTliAlMDPLEGIA
DIAGNOSnC TESTS & INTERPRETAnON Cogan DG. lnternudear ophthalmoplegia, typicaI

Lab ONGOING CARE and atypical. Ardl Ot/!thalmo/ 1970;84:S83-589.
No speclflc testing Is available National Multiple Sderosis Society of America
FOLLOW-UP RECOMMENDATIONS http:/IV.Mw.nmss.org.
Imaging Patients should be re-examined in 3-6 months.
lnltlalapproad! Multiple Sclerosis Intemational H!deration
MRI of the brain Is the pre1erred Imaging method. CT DIET http:/IV.Mw.ifmss.org.uk.
scan of the brain does not have sufficiem resolution to If the cause of the INO is determined to be due to a The Multiple Sderosis Sodety of Great Britain and
identify the lesion. The usuaI finding is a small white lacunar stroke, a diet resulting In lowe~ng of vascular Northern Ireland http:/1\wiw.rnssoclety.org.ulc..
matter lesion, best seen on FLAIR imaging. For acute disease ~sk Is Indicated. MS Research Trust http:IIV.Mw.msresearchtrust.
demyelinating lesions in patients with MS, the lesion PATIENT EDUCAnON org.uk.
may enha nee wtth gadolinium contrast. Acute locunar Appropriate to the etiology, usually MS or stroke MedSupport FSF International http:llwww.
strokes may show up on diffusion-weighted MR medsupport.org.
imaging. Often the brainstem is normal on imaging. PROGNOSIS Conson!um of Multlple Sclerosis Centers
Follaw-up a special considerations INO prognosis Is dependent on the etiology; those due http:/IV.Mw.mscare.org.
to MS. trauma, tumors. strokes, or hemorrhages tend Computer Literate AINocates for Multiple Sclerosis
Repeat Imaging for stable or Improving INO Is not
to persist, whereas those due to infections (e.g., http:/IV.Mw.dams..org.
necessary. Infrared oculography can be used to
brainstem encephalitis) or drug overdoses improve or
confirm the presence of INO. although the diagnosis is Nationallnstit\Jte of Neurological Disorders and
usually made by clinical examination alone. resolve with treatment.
Stroke http:IMw/1.nlnds.nlh.gov/health..and_
Dygnostk Procedures/Other medlcal/dlsorderslmultlple.sderosls.hun.
INO commonly occurs as a consequence of a small REFERENCES http:/IV.Mw.mult-sderosis.orst
lacunar infarct or an inflammatory demyelinating internudearophthalmoplegia.hunl.
1. Downey AI. StahI JS. Asiri RB, Oerwenskus J,
lesion. Diagnostic procedures are aimed at finding the Jooly's Joint http:IIV.Mw.mswebpals.org.
Adams NL, Ruff RL, Leigh RJ. Ann N YAcad Sri
causes of stroke or to documem the presence of MS or 2002;956:438-440.
other demyelinating CNS disease.
2. Keane JR. Internuclear ophthalmoplegia: Unusual
DIFFERENnAL DIAGNOSIS causes in 114 of 41 0 patients. Arch Neurol . CODES
Pseudo-!N0 due to myasthenia can occur. 2005;62:714-717.
ICD9
378.86 Internuclear ophthalmoplegia
. TREATMENT ADDITIONAL READING
ADDITIONAL TREATMENT Prasad S, Galena SL Eye movement abnormalities CLINICAL PEARLS
General MH6UI'8S In multiple sclerosis. Neurologic Clinics 2010;28:
641~55. IN0 is the most reliable localizing sign in the CNS,
Not applicable pinpointing the ipsilateral pons or midbrain as the
Zee DS. Intemuclear ophlhal moplegia:
Issues for Referral Pathophysiology and diagnosis.lhli//ieres Clin site of patholo!Ji.
Selecll!d patients may need to be referred to a Neural 1992;1:455-470. BllateraiiNO usually means MS; unilateral INC
neurologist specializing in MSor stroke management. usually means stroke.
Baloh RW, Yee RD, Honrubia V.lntemudear
I
ophthalmoplegia. 1. Saccades and dissodated Pseudo-1 NO, which is dinically indistinguishable
nystagmus. Arch Neuro/1978;35:484-489. from IN0, may oa:ur in myasthenia gravis.
361
INTERSTITIAL KERATITIS [IK]
Nicole R. Fram
Eliza Hoskins
Doug S. Holsclaw
~ BASICS
Past Medical History and Medications DIFFERENTIAL DIAGNOSIS
Review of systems (ROS): Bacterial
- Constitutional: fever, night sweats. chills -Syphilis
DESCRIPTION [tuberculosis (TB)] -Tuberculosis
Interstitial keratitis (II<) or immune stromal keratitis - Skin/mutocutaneous: oral ulcers (herpes -Lyme's disease
(ISK) is nonsuppurative (nonmelting) inflammation simplex virus (HSV), vesicular lesions (herpetic -Leprosy
and cellular infiltration of the corneal stroma disease), erythema migrans (Lyme's disease), -Brucellosis
Often accompanied by corneal vascularization stigmata of Hansen's (leprosy) - Ch/am}fiia trachoma tis
Minimal primary involvement of the epithelium - Dentai/ENT: incisor and molar deformation Viral
(non-ulcerative) or endotllelium in the active stage (congenital syphilis), saddle nose (syphilis), - Herpes simplex virus (HSV)
of inflammation hearing loss, tinnitus, vertigo (Cogan's syndrome), -Varicella zoster virus 'YZV)
However, corneal thinning can occur as a result of parotiditis [Epstein Barr Virus (EBV), mumps] - Epstein-Barr Virus (EBV)
chronic inflammation. - Respiratory: Shortness of breath (sarocoidosis), -Mumps
-Active disease is characterized by pain, tearing, productive cough (TB) -Rubella
and photophobia - cardiovascular: AV block (Lyme's disease) Parasitic
-Typically associated with systemic disease - Musculoskeletal: Migratory joint pain (Lyme's - Leishmaniasis
- Often diagnosed as a late sequelae of disease disease); saber shins (syphilis) - Onchocerciasis
characterized by ghost vessels and corneal scarring -Genitourinary: Genital ulcers (syphilis) - Trypansomiasis
- Neurological: Cranial nerve palsies (CN V. VII, - Acanthamoeba
EnOLOGY and VIII) (herpetic disease, Lyme's disease, - Microsporidiosis
Congenital syphilis has been described as the most Cogan's syndrome, leprosy)
common cause of IK worldwide (1 ). Systemic disease
-Worldwide 90% of IK PHYSICAL EXAM - Cogan's syndrome
- Congenital (87%) versus acquired (3%) Visual acuity, intraocular pressure (lOP) - Sarcoidosis
- F>M is 2:1 for congenital and acquired syphilis Pupillary function, confrontational visual fields. and -Lymphoma
ocular motility/alignment - Idiopathic
However, herpetic eye disease and idiopathic causes
appear to be the most common causes of active IK External exam: Rashes (Lyme's disease, syphilis, DESCRIPTION OF ETIOLOGIES1
in North America (2). herpetic disease, leprosy) Syphilitic Interstitial Keratitis
Herpetic eye disease and syphilis comprise >50% of Eyelids: Vesicles (herpetic), lid chancre (syphilis) Triad of Hutchinson [IK, deafness (CN VIII),
cases of IK in the US. Conjunctiva/sclera: Conjunctival injection, Hutchinson's incisors (dental deformation]
IKis responsible for 2-5% of penetrating scleritis, conjunctival granuloma (sarcoidosis, TB, Congenital Syphilitic IK
keratoplasties(3, 4). leprosy) -Treponema pallidum
Cornea: Stromal white blood cell infiltrate. - Crosses placenta in primary, secondary, or early
RISK FACTORS epithelium typically intact, corneal scarring (diffuse, latent phase
Bacterial, viral, or parasitic infections (see sectoral, central, circumferential, or multifocal), - Clinical disease is rarely present at birth
Differential Diagnosis)
decreased corneal sensation (herpetic disease, EBV. -Age of onset: 5--20 years; Peale incidence
Systemic diseases (see Differential Diagnosis) leprosy), stromal vascularization, lipid 9-11 years; rare after age 30
PATHOPHYSIOLOGY exudation/keratopathy, ghost vessels, corneal - 80% bilateral; unilateral disease at presentation,
Lymphocytic infiltration and neovascularizaion scarring, and corneal thinning {late) diffuse stromal disease, deep stromal vessels with
(typically) of the corneal stroma. Late findings of Iris: Iris atrophy (herpetic disease, syphilis), iris overlying "salmon patch" edema, associated iritis
ghost vessel and corneal scarring. pearls (leprosy), posterior synechiae in active disease
Type IV hypersensitivity response to infectious Anterior chamber: Iritis, fine keratic precipitates -Second eye involved after days to years (~1 year)
organisms or antigens in the corneal stroma (KP) - Corneal involvement in 40% of congenitaiiK
Posterior Segment: Salt and pepper fundus - Late phase characterized by ghost vessels
~ DIAGNOSIS (syphilis), vasculitis choroiditis (sarcoidosis, corneal scarring, guttae-like excrescences on

herpetic disease, TB, syphilis) Descemet's membrane
Acquired Syphilitic IK
HISTORY DIAGNOSTIC TESTS & INTERPRETATION - Very uncommon and less severe
Targeted history: onset. duration, location, quality of Slit lamp examination - 10 years after primary infection
symptoms, associated systemic conditions (hearing Confocal microscopy may be useful in cases where - Probable corneal invasion of spirochetes
loss), contact lens wear, sexually transmitted fungal or acanthamoeba infection is suspected. - Bulbar conjunctival, limbal, or lid chancre
diseases, trauma, travel history, and tick or insect -Unilateral in >60%
bites Lab
VDRL or RPR (syphilis) - Often remains sectoral with vascularization
Unilateral or bilateral - Regresses rapidly with anti-syphilitic therapy
FTA-ABS or MHA-TP (syphilis)
Active inflammation is characterized by pain,
tearing, and photophobia. Lyme's Ab {ELISA lgG and lgM) TUBERCULOSIS
Lyme's Western Blot Mycobacterium Tuberculosis
HSV-1, HSV-2 {herpetic disease) Infection enters body via inhalation
Purified protein derivative (PPD) or quantiferon, Granulomatous inflammation; 2% of IK cases
chest X-ray [CXR (TB)] Typically, unilateral, sectoral, and peripheral;
Cogan's syndrome: Leukocytosis and mild frequently involves inferior cornea
eosinophilia Stromal vascularization (minimal)
EBV (positive heterophil antibody test) Dense sectoral scar thinning
Associated conditions: uveitis, choroiditis, retinal
vasculitis, conjunctivitis, and scleritis
Host response to antigen rather than active disease
and natural course is weeks to months.
362
INTERSTITIAL KERAmiS (IK)
LYME'S DISEASE Other

Borrelia burgdorferl Epstein-Barr Virus (E BV) ONGOING CARE
Spirod1ete; lxudes scapu/aris from tick Bilateral nummular keratitis
o Bilateral, focal, and avascular
vascularization variable (usually avascular)
Poorly defined nebulous lesiDI'\5 seen in all stromal Patient Monitoring
Parotiditis
levels; iritis and fine KP may be present Follow patients weekly until inffammation is
Mononudeosls confirmed by positive heterophil controlled.
o May progress to vaswlarization and scarring antibody test
o Go.a I is to haw patients on least amount of topica I
IK is a late manifestation and is immune- mediated
corticosteroid tD control Inflammatlon and
o Associated disease: Erythema mlgrans rash,
. TREATMENT permanent corneaI scarring
constitutional symptoms, migratory joint and muscle
o Infectious Disease consult when indicated
pain, cranial nerve palsies, and optic neuritis
SYPHILIS
HERPETIC INTERmnAL KERAnnS Topical corticosteroids and cycloplegics
o Herpes Simplex Virus P~ mary, secondary, and early latent stllges: REFERENCES
- Unilateral, diffuse or sectoral -2.4 million units PCN G IM x 1
-Frequently begins as dlsdform keratitis 1. Knox Mc, Holsdaw DS. Imerstltlal keratltls./nt
o Late mngenital: Ophtha/md Clin. 1998;38:183-195. [A]
- Followed by deep corneal infiltrates associated - 2.4 million units PCN G i.v. or i.v. for 10 days
wilt! iritis 2. Schwartz GS, Harrison AR, Holland EJ. Etiology of
Lumbar puncture to r/o neurosyphilis: Immune stromal Onterstltlal) keratitis. Comea 1998
- Deep and superfiCial vessels -24 million units PCN G i.v. for 1D-14 days
- Reduced corneal sensation May;17:271-281. [A)
- HSV serologies useful only for exclusion TUBERCULOSIS (TB) 3. Liu E. SlomD'Iic AR. Indications for penetrating
o Hepes Zoster VINS (Varicella Zoster VIrus) Topical corticosteroid and tydoplegics keratoplasty In canada. 1986--1995.Comea
- Develops 2-3 weeks after acute epithelial keratitis Treat underlying TB: usually multidrug Rx 1997;16:414-419. [A)
or dermatitis (shingles) -Isoniazid 4. Dorrepaal SJ, Cao KY. Slomovic AR. Indications for
-Unilateral, anterior stromal infiltr.!tes, disciform - Rlfampln penetrating keratoplasty in a tertiary care referral
b!ratitis, Wessely ring (immune ring infiltrate) - Pyrazinamide centre In Canada, 1996--2004. Can 1 Ophtha/mol
- Sequelae: lipid deposition, scarring, deep - Strep!Dmytin or eltlambutol 2007;42:244-250. [A)
neovascularization 5. Wilhelm us KR, Gee L, Hauck 'IN/, e1 al: Herpetic
LYME'S DISEASE
- lmmune-mediated Topical corticosteroid and tydoplegics
eye disease study. A controlled trial of topical
- Reduced corneal sensation corticosteroids for herpes simplex stromal keratitis.
- May be seen in inactive stage System il: antibiotics if no prior treatment: Ophthalmology 1994:1 01 :1883-1895: discussion
-t.v. penldllln 95-96.
COGAN'S SYNDROME - Ceftriaxone
First described 'r/of Cogan In 1945 as nons~h Illtic IK - Cefotaxime
6. Herpetic Eye Disease Study Group: Oral Acyclovir
I
for herpes simplex virus:effect on prevention of
with vesti buloauditory symptoms - Tetracycllneldoxycydlne epithelial keratitis and stromal keratitis. Arch
o Typical Cogan's HERPETIC DISEASE Ophtha/md 2000; 118:1 030-1036.
-IK and vestlbuloaudltory symptoms (verdgD, Topical corticosteroid trifluridine 1% and 7. Samicola V, Toro P. Oeep anterior lamellar
tinnitus, and hearing loss) cydopleglcs3 keratoplasty in herpes simplex mrneal opacities.
o Atypical Cogan's: Oral antiviral agents: Cornea 2010;29:60-64.
- Vestlbuloaudltllly disease (as above) - Acyclovir (ACV) 8. Tambasco FP, Cohen EJ, Nguyen LH, et al. Oral
Ocular inflammatory di1ease other than IK - va lcyclovir acyclovir after penetrating keratoplasty for herpes
- Posterior uveitis, subconjunctival hemorrhage. - Famcidovir simplex keratitis.ArdJ Ophtha/mo/1999;117:
scleritis. episderitis, retinal hemorrhage, disk Alltlough oral antiviraIs did not redUICe established 445-449.
edema, conjunctivitis, and orbital Inflammation stromal inflammation, in ltle treatment group of
o S,stemic 1115ociations toplea1 steroid and trill urldlne, the addition of oral
- 10% systemic large vessel vasculitis: antiviral was superior to placebo in causing visual . CODES
- Polyarteritis, aortic lnsufflclency, coronary stenosis, improvement at 6 months follow-up (5).
and brain infarcts Prophylactic treatment of HSV stromal keratitis ICD9
- Underlying rheumatologic disease in up to 50% of patients with oral acycolvir resu Ited in a statistically 053.21 Herpes zoster keratoconjunctivitis
patients wtltl at)plcal Cogan's significant reduction of ocular (14% treated vs. 28% 090.3 Syphilitic interstitial keratitis
- Polyarteritis nodosum, Wegener's granulomatDSis, placebo) and orofacial recurremes during a o 370.50 InterstitiaI keratitis, unspecified
rheumatoid arthritis, Crohn's disease, and 12-month treatment and 6-monltl follow-up period.
relapsing polychondritis Consider antiviral prophylaxis ACV 400 mg b. i.d if
Usually bilateral, sudden-ooset severe pain, tearing, > 1 episode (6).
and photophobia
CLINICAL PEARLS
o Early. peripheral subepithelial keratitis wilt! faint
COGAN'S DISEASE
Unilateral: Acquired syphilis, TB, mumps, herpetic
nummular lesions; begins peripherally and Topical corticosteroids and cycloplegics
disease, and Cogan's syndrome
superfidally Prednisone 2 mglkg for first week; slow taper
Bilateral: Congenital syphilis, leprosy, EBV. Lyme's
o Late: involves deep stroma; uveitis; variable System1c Immunosuppression for underlytng disease, Cogan's syndrome, and ond1ocerciasis
mild late vascularization systemic disease or disease unresponsive to
Vestibuloauditory symptoms develop within 1 morrth mrticosteroids alone.
(before or after 110 Check MRIInner ear, audiogram, and
Autoimmune hypersensitivity reaction to antigen ed1oca rd iogram if diagnosis is suspected and start
present In corneal stroma and Inner ear; can be high-dose steroids.
preaded by upper respiratory infection (URI) SURGERY/OTHER PROCEDURES
o Can progress to deafness in 3 months if untreated. Penetrating keratoplasty (PKP)
Deep anterior lamellar keratoplasty (DAL.K) (7)
Hlgh-rtsk. of graft rejection wtltl active corneal
neovascularization
Consider antiviral prophylaxis in herpetic disease
and PKP (8).
363
INTRAOPERATIVE ROPPY IRIS SYNDROME [IRS]
Brad H. Feldman
Mark H. Blecher
GENERAL PREVENTION
Avoidance of associated medications

An iris abnormality that may manifest preoperatively Alpha 1A iris smooth muscle adreno receptor may be Important to screen all patients for current or past use
with poor pupil dilation and may manifest blocked by associated antagonists. of all associated agents
intraoperatively with some or all of the following Blockage may lead to loss of dilator muscle tone.
PHYSICAL EXAM
findings: Decreased dilator tone may lead to poor dilation
Poor or slow dilation preoperatively may suggest IFIS
- Billowing ofthe iris stroma during normal and intraoperative floppiness.
irrigation DIFFERENTIAL DIAGNOSIS
ETIOLOGY
- Iris prolapse to corneal incisions Poor preoperative dilation
IFIS may occur even with short-term exposure to
- Poor maintenance of dilation with progressive -Prior injury, inflammation, infection, or topical
associated medications (~2 days reported) or use in
miosis (pupil constriction) miotic use
the distant past
- Ineffectiveness of pupillary stretching to maintain Iris prolapse
pupil expansion COMMONLY ASSOCIATED CONDITIONS - Short or inadequately constructed wounds
Any condition treated with associated medications - High intracameral pressure
EPIDEMIOLOGY
Benign prostatic hypertrophy
Occurs in males > females
Prostate cancer
Prevalence Urinary retention (menfwomen) . TREATMENT
In the US, occurs in ~2-3% of cataract surgeries
Hypertension MEDICATION
RISK FACTORS Hair loss Stopping associated agent preoperatively
Most frequent and severe in patients exposed to Psychiatric disturbances - May improve dilation but will not typically
selective a,-antagonists decrease IFIS severity
Associated a,-antagonists: Geriatric Considerations
- Most surgeons do not stop these agents
- 1A selective The incidence of benign prostatic hyperplasia (BPH) is
~50% in men >50 years and 90% in men >85 years
Preoperative atropine
o Tamsulosin (Fiomax): up to 90% of patients - Improves dilation but does not reliably decrease
taking this drug may have IFIS of age.
IF IS severity
o Alfuzosin (Uroxatral): up to 15% of patients
lntracameral a 1-agonist injections (preservative-free
taking this drug have IFIS only)
o Silodosin (Rapaflo): unknown%
-Epinephrine 1:1000 mixed 1:3 or 1:4 with
- Nonselective: lower risk balanced salt solution to buffer
o Terazosin (Hytrin) - Phenylephrine (not available in the US)
o Doxazosin (Cardura)
o Naftopidil (Fiivas)
Use of other medicinesfsupplements: lowest risk
- 5-alpha reductase inhibitors
o Finasteride
o Dutasteride (Avodart)
- Saw palmetto
-Antipsychotic drugs
364
UITJIAOPERATIVE FLOPPY IRIS SYNDROME (IRS)
ADDITIONAL TREATMENT ADDITIONAL READING

General M"sures ONGOING CARE
Highly cohesive ophthalmic vismelastic devices Chang OF, BragaM ele R. Mamalis N, et al. ASCRS
(OVD) PATIENT EDUCATION white paper: Clinical reiew of floppy-iris syndrome.
- Sodium hyaluronate 2.3% (Healon 5) may fadIitate Patients should be infonned of risks of associated 1 Cataracr Refract Surg 2008;34:21 53-2161.
pu pll expansion and prevent Iris movement medldnes. Chang OF, Campbell JR. Intraoperative floppy-iris
Other specialized viscoelastics Prescribing physicians should consider referring syndrome assodated with tamsu losin. 1Cataract
- Hyaluronic acid 1.6% and chondroitin sulfate patients to an ophthalmologist for consultation Refract Surg 2005;31 :664-673.
4.0% (DisCoVIsc) may remal n In the eye longer before start!ng these medldnes. Chang OF, Osher RH, Wang L, et al. Prospective
with higher flow rates Patients must inform their ophthalmologists if they multicenter evaluation of cataract surgery in patients
are currently or have ever taken these medidnes. taking tarnsulosln (Fiomax). Ophthalmology
COMPLICAnONS 2007;114:957-964.
Longer, more stable, wound tunnels may decrease
iris prolapse IFIS is associated with a higher rate of posterior
Pupil expansion capsule rupture, vitreous loss, and iris damage.
-Pupillary rings: Malyugin (Microsurgical The rate of complication Is highest when the . CODES
technology), Graether silicone ring (Eagle Vision), ophthalmologist is unaware of patient use of
55 Pupil Ring (Mordter GmbH), Perfect Pupil associated medicines. ICD9
(Milvella Ltd.) 364.81 Floppy iris syndrome
- Iris retractors/hooks: Disposable 6-0 nylon (Akon)
or reusable 4-0 polypropylene (Katena Products.
FCI, Oasis Medical) CLINICAL PEARLS
a,
IFIS Is associated with -antagonist use.
Outcomes are best if IFIS risk. is identified
preoperatively.
Several strategies can be used to successfully
manage IFIS intraoperatively.
Patients and physida ns should be educated about
IFIS risks.
365
IRIDOCORNEAL ENDOTHELIAL (ICE] SYNDROME
Michael J. Pro

There are 3 variants that have slightly different
presentations and courses. All 3 variants are
~ DIAGNOSIS
DESCRIPTION associated with corneal disease and glaucoma. HISTORY
An acquired and usually unilateral condition affecting Essential or progressive iris atrophy is notable for Signs and symptoms:
young and middle-aged women. The condition causes corectopia (distorted pupil) or pseudopolycoria (a Almost always has a unilateral presentation
various degrees of iris abnormalities, corneal edema, "sec.ond" pupil). Marked iris atrophy is a hallmark of Decreased vision due to c.orneal edema. which is
and glaucoma in affected individuals. The etiology is this variant. Severe anterior segment abnormalities frequently worse in the morning upon awakening
unknown, but is thought to be due to a viral infection. may include extensive peripheral anterior synechiae Pain is usually due to corneal edema, but may be
It affects all races. The hallmark of the c.ondition is an (PAS). PAS formation is progressive, leading to angle from elevated lOP later on in the c.ourse of the
abnormal c.orneal endothelium, which advances onto closure and frequently elevated intraocular pressure disease.
the anterior chamber angle and iris. (lOP). Sec.ondary angle-closure glaucoma is present Iris abnormalities noticed by patient or family and
Pediatric Considerations in at least 50% of individuals. friends
It rarely affects children. A case of an 11-year-old girl Iris nevus syndrome (Cogan Reese) is notable for the Decreased visual function due to glauc.oma is
with ICE syndrome and glaucoma was reported (1 ). presence of a large nevus c.overing a large part of present in advanced disease.
the iris or multiple iris nodules. Specimens from eyes
Geriatric Considerations enucleated for presumed malignancy demonstrated PHYSICAL EXAM
Older patients may have limitation in vision in the iris tissue in these nevi. Slit lamp exam can demonstrate corneal edema and
affected eye due to corneal disease and/or abnormal corneal endothelial appearance. Areas of
Chandler's syndrome is notable for a corneal
glaucomatous optic neiVe damage. abnormal corneal endothelium may be seen in the
endothelium with a characteristic "hammered
fellow eye. Iris atrophy and pupillary irregularity or
Pregnancy Considerations silver appearance. Chandler's syndrome variant has
decentration are hallmarks of progressive iris atrophy.
Glaucoma medications may need to be adjusted a lower incidence of glaucoma and a higher
Gonioscopy can reveal complete angle closure,
during pregnancy and nursing. incidence of corneal edema due to dysfunction of
especially in essential iris atrophy.
normal endothelial function.
EPIDEMIOLOGY DIAGNOSTIC TESTS It INTERPRETATION
ICE syndrome is a very rare condition with no known Visual acuity may be reduced in the affected eye and
genetic risk factors. may fluctuate with varying degrees of c.omeal
GENERAL PREVENTION edema.
There is no known preventive measure ICE syndrome. Visual field may be abnormal if there is co-existing
glaucomatous optic neuropathy.
ETIOLOGY
Thought to be due to a viral infection. In one study 5
out of 9 c.omeal specimens were positive for herpes
simplex virus (HSV} DNA in the c.omeal endothelium.
The specimens were negative for herpes zoster virus or
Epstein-Barr virus DNA (2).
366
IRIDOCORNEAL ENDDTHEUAL (ICE) SYNDROME
Imaging SURGERY/OTHER PROCEDURES PROGNOSIS

Optic nerve Imaging can be helpful In establishing Cataract surgery can be complicated by poor VIsual prognosis Is mostly related to seve~ty of
diagnosis of glaucoma or assisting In detection of papillary dilation and tl1e presence of an IcE glaucoma but may be affected by success In
glaucoma progression. Imaging devices indude membrane over the anteriar capsu Ie. restoration of corneal clarity.
optic nerve photography, opticaI coherence CorneaI transplants are performed for chronically Compi ications from calllract surgery can also affect
tomography (aen, confocal scanning laser edematous and hazy corneas. Newer visuaI prognosis.
ophthalmoscopy (Heidelberg Retina Tomograph- partial-thickness corneal transplant procedures may VISual prognosis is generally more poor for
HRll, and scanning laser pola~metry (GDx). reduce the Incidence of rejection. Descemet Individuals who reject multiple corneal transplants.
Corneal disease is mostly followed dinically, but Stripping Automated Endotl1elial Keratoplasty Irregular refractive errors after corneaI surgery may
specular microscopy can demonstrate characteristic (DSAEK} involves Descemet's and endothelial require use of specialty contact lenses.
endothelial cell abnormality with variability in cell membrane transplant.
size and shape as well as loss of the normaI clear Iris reconstruction surgery for improved cosmetic
hexagonal margins. appearance or to ameliorate glare can be REFERENCES
Pachymetry can be useful to quantify ccmeal undertaken alone or at the time of cataract surgery.
thicken ing. The iris tissue is often friable and difficult to suture. 1 Salim S, Shields MB, walton D. lridocomeal
ArtifidaI iris implantation can be usfluI (3). endothelial syndrome in a d1ild. 1 Pediw
DIFFERENTlAL DIAGNOSIS Oi/lthlllmo/ Strabismus 2006;43:308-3 t D.
Fuch's dystrophy may have a similar corneal Glaucoma in ICE syndrome may be more severe and
refractory to surgical management Traber:ulectomy 2. Alvarado JA. Underwood JL, Green WR, et al.
appearance, but with no anterior dlamber Detection of herpes simplex viral DNA In the
abnormalities. may fall more frequently, and tl11s Is thought to be
partially due to growth of abnormal corneal lrldoccmeal endothelial syndrome. Aid!
PPMD--may appear similar, but Is familial and Oi/lthalmo/ 1994; 112: 1601-1609.
endothelium over the internaI sderal ostium.
bilateral 3. Kh ng C, Snyder ME. Iris reconstruction with a
Trabeculectorny in patients with Chandler's
Axenfeld Riegers is congenillll and bilateral and may syndrome may be more successful than in the other multipiece endocapsular prosthesis in iridocomeal
have systemic findings. sud1 as denllll abnormalities. variants. endothelial syndrome. J Cataract Refract Surg
Iris melanomas can appear similar to pure Trabeculectorny may be more successful If performed 200 5;31 :2051-2054.
Cogan-Reese syndrome. with an anti-metabolite sud1 as mitomycin C 4. Doe EA. Budenz DL, Gedde SJ, lmaml NR.
Glaucoma drainage implants (tube shunts} may be Long-term surgical outcomes of patients with
more successful than trabeculectomy as they may be glaucoma secondary to the iridocomeal endothelial
. TREATMENT less likely to be blocked with an endotheliaI syndrome. O,dJ thalmology 2001; 108:1789-179 5.
ADDITlONAL TREATMENT membrane (4}.
General NleasUNS
Corneal edema can be treated with hypertonic
. CODES
$ ONGOING CARE
saline drops or ointment (sodium chloride solution
ar ointment 5%}. FOLLOW-UP RECOMMENDATIONS ICD9
365.43 Glaucoma associated with other anterior
Elevated lOP and glaucoma can be treated with l'atient Monifloring
anti-gIaucoma drops. segment anomalies
Affected individuals should be followed up
Laser trabeculoplasty is not usually beneficial in this periodically for routine eye care. Mild cases without 371.20 Corneal edema, unspecified
cype of chronic angle-dosure glaucoma.
I
glaucoma may be seen yearly.
Laser pe~phera I lrldotorny does nat halt the Monilllring for di!W!Iopment of glaucoma indudes
progression of progressive angle closure tl1at is a evaIuation of optic nerve appearance with either
hallmark of this condition. direct or lndlrect ophthalmoscopy. VIsual fleld testing
and op1ic neM imaging may also be appropriate.
Individuals with glaucoma or corneal disease may
need mare frequent monitoring
CorneaI decompensation and glaucoma may require
sub-specialty referral.
367
IRIS ATROPHY
Anita P. Schadlu
Ramin Schad/u
~ BASICS
ETIOLOGY Different patterns of iris atrophy may suggest the
Herpes simplex uveitis underlying disorder
Herpes zoster uveitis - Iris atrophy at the pupillary margin and/or
DESCRIPTION Fuchs' heterochromic iridocyclitis persistent pupillary dilation suggests herpes
Iris atrophy can be caused by a myriad of ocular Pigment dispersion syndrome and secondary simplex uveitis (3).
disorders. glaucoma - Sectoral iris atrophy suggests herpes zoster uveitis
-The etiology can be determined by careful history or herpes simplex uveitis (4).
Pseudophakic pigment dispersion from iris chafing
taking and physical examination. - Diffuse atrophy suggests Fuchs' heterochromic
Traumatic or iatrogenic
Pediatric Considerations iridocyclitis.
ICE syndrome - Radial iris atrophy suggests pigment dispersion
Iris atrophy in the pediatric population may indicate - Essential iris atrophy subtype
syndromes such as ocular albinism or Axenfeld-Rieger syndrome (which can cause secondary glaucoma).
- Minimal iris atrophy may also be seen in This pattern results from the lens zonules eroding
syndrome. Chandler's syndrome and Cogan-Reese syndrome the iris pigment epithelium.
Pregnancy Considerations subtypes. - Iris corectopia, ectropion uveae, and/or iris hole
Iris atrophy with uveitis in a pregnant patient may Axenfeld-Rieger syndrome formation can be seen in ICE and Axenfeld-Rieger
suggest a diagnosis of herpes simplex, herpes zoster, Ocular albinism syndromes.
or Fuchs' heterochromic iridocyclitis (lin ked to rubella Ischemic iridopathy The corneal exam can also aid in diagnosis.
virus). All of these infectious etiologies should be -Diabetic - Corneal edema can be seen in ICE syndrome.
addressed. - Ocular ischemic syndrome - Keratic precipitates on the corneal endothelium
- Systemic cryoglobulinemia suggest prior or current anterior uveitis. Diffuse
EPIDEMIOLOGY keratic precipitates are seen in herpetic uveitis and
Incidence COMMONLY ASSOCIATED CONDITIONS
Chronic uveitis Fuchs' heterochromic uveitis.
The incidence varies depending upon the etiology and Gonioscopy should be performed.
the population in question. lridocomeal endothelial Glaucoma
- Peripheral anterior synechiae suggest prior uveitis
(ICE) syndrome is quite rare, whereas herpes zoster Cataract
or ICE syndrome.
iritis occurs in ~43% of patients with herpes zoster
- Heavily pigmented trabecular meshwork suggests
ophthalmicus, a fairly common condition (1).
Prevalence
~ DIAGNOSIS pigment dispersion syndrome.
The presence of a cataract can suggest chronic
The prevalence varies depending upon the etiology of HISTORY uveitis.
the iris atrophy. In patients with Fuchs' heterochromic Patients may be any age. They should be questioned The posterior segment examination is important in
iridocyclitis, the prevalence of iris atrophy approaches for a history of recurrent red eye, pain, glaucoma, and
the workup of iris atrophy.
90%(2). visual loss. -The optic nerve should be evaluated for
RISK FACTORS PHYSICAL EXAM glaucomatous cupping.
History of common causes of iris atrophy such as The patient's visual acuity and intraocular pressure -The retina should be examined for signs of ocular
chronic or recurrent uveitis and certain types of should be accurate~ determined. albinism as well as ischemic processes.
glaucoma - Increased intraocular pressure can be seen in: DIAGNOSTIC TESTS & INTERPRETATION
o Herpes simplex uveitis, herpes zoster uveitis,
Genetics Fuchs' heterochromic uveitis, any form of Lab
Axenfeld-Rieger syndrome is autosomal dominant. Initial lab tests
chronic uveitis. ICE syndrome, Axenfeld-Rieger
The responsible gene has been isolated to laboratory testing is not often indicated, but can be
syndrome. and pigment dispersion glaucoma
chromosome 4q25. directed by the suspected underlying diagnosis.
Laterality of the iris atrophy is important in making
Ocular albinism follows all of the inheritance - PCR can be performed on aqueous samples to
the diagnosis of the underlying disease.
patterns, including X-linked recessive pattern. detect herpes simplex, varicella zoster, or rubella
Fuchs' heterochromic iridocyclitis and herpetic virus.
PATHOPHYSIOLOGY uveitis are typically unilateral, but can be bilateral.
In cases of chronic inflammation, iris atrophy ICE syndrome is unilateral, whereas Follow-up & special considerations
manifests as loss of detail and density of the Axenfeld-Rieger syndrome is bilateral. Patients with iris atrophy from any etiology should be
anterior iris as the iris stroma breaks down. monitored for glaucoma, cataract formation, and
Iris atrophy can be subtle. It is best detected by
In Axenfeld-Rieger syndrome, iris atrophy results visual loss.
performing transillumination in the slit-lamp exam.
from abnormal embryologic development of the iris
and anterior chamber angle.
In ocular albinism, the number of melanosomes in
the iris pigment epithelium is decreased, resulting in
transillumination defects.
368
IRIS ATROPHY
Imaging ADDmONAL TREATMENT REFERENCES

Slit-lamp photographs with and w!thout Issues for Referrel
transillumination may be obtained to document the Patients In whom the 10PIs not controlled with 1. Thean JH. Hall AJ, Stawell RJ. Uveitis in herpes
degree of iris atrophy. topical drops, or who have progressive visual field zoster ophthalmlcus. Cl/n Experiment Ophthalmol
In cases whel'l! iris-<:hale from an intraocular lens loss. should be l'l!ferll!d to a glaumma spedalist. 2001 ;29:406-41 0.
implant or dislocated aystalline lens is suspected, o Patients with suspected Axenfeld-Rieger syndrome 2. Tugai-Tutkun I, Giiney-Tefekli E, Kamaci-Duman F,
anterior~gment high-resolution biomicrosmpy can or ocular albin ism should be evaluated by a et al. A cross-sectional and longitudinal study of
be perf01med to Identify the lens location. pediatrician and a genetidst. Fuchs uveitis syndrome in Turkish patients. Am 1
Ophtha/mo/2009; 148:51 Q--515.
DIFFERENTlAL DIAGNOSIS 5URGERY/OT11ER PROCEDURES
Herpes simplex uveitis
3. Goldstein DA. Mls AA. Oh FS, et al. Persistent
Cataract surgery and glaucoma surgery may be pupillary dilation in herpes simplex uveitis. Can I
Herpes zoster uveitis indicated in the management of patients with iris Ophtha/mo/2009;44:314--316.
Fuchs' heterochromic iridocyditis atrophy due to various causes. 4. Van der L.elij A, Ooijaman FM. Kijlstra A. et al.
Pigment dispersion syndrome and secondary Anterior uveitis with sectoral iris atrophy in the
glaucoma absence of keratitis: A distinct clinical entity among
PseudophaIde pigment dispersion
ONGOING CARE
herpetic eJe diseases. Ophthalmology 2000;107:
Iatrogenic FOLLOW-UP RECOMMENDATIONS 1164--1170.
Trauma Patients need regula rty scheduled follow-up visits
ICE syndrome depending on the presence of glaucoma and
Axenfeld-Rleger syndrome cataracts. . CODES
Ocular albinism PATIENT EDUCATION
lschemic iridopathy o Patients should be educated on the need for regular
lCDI
-Diabetic follow up and the Importance of com pllance with 270.2 Other disturbances of aromatic amino-acid
- Ocular ischemic syndrome glaucoma medications. metabolism
- Systemic ayoglobullnemla o Patients with genetic causes of iris atrophy should 364.3 Unspedfled irtrJocyditis
receive genetic munseling. 364.59 Other Iris atrophy
TREATMENT PROGNOSIS
Visual prognosis varies depending on the etiology of CLINICAL PEARLS
MEDICATION the iris atrophy.
The underlying condition should be treated, if Iris atrophy is an important finding that can alert the
indicated, with topical steroids or oral antiviraIs. clinician to the pll!sence of underlying
Glaucoma should be treated with topical drops and vision-threatening disease.
surgery if indicated. The detection of iris atrophy requires careful
slit-lamp examination with transillumination.
369
IRIS MELANOMA
Carlos Bianciotto
Carol L. Shields
ALERT EPIDEMIOLOGY DIAGNOSTIC TESTS & INTERPRETATION

Any pigmented iris lesion should be carefully Incidence Lab
checked for tumor seeding, secondary glaucoma, Iris melanoma represents < 5% of all uveal Initial lab tests
and intrinsic vessels, features that are found with melanomas. (Uveal melanoma has an estimated Imaging tests include ultrasonographic
iris melanoma. incidence of 6 cases per million per year in the US). biomicroscopy (UBM). anterior segment optical
coherence tomography (AS-OCD. and anterior
Pediatric Considerations RISK FACTORS
segment photography.
White race
A study of 40 young patients with uveal melanoma liver function tests, liver MRI, chest X-Ray, and
Inferior iris location (>80% of iris melanomas are
(age <20 years) by Shields and associates indicated oomplete physical exam
located below the horizontal meridian of the iris)
that iris melanoma in this patient age group is more Imaging
common (12%) than in adults (4%; ref. 1)1A]. In an article by Territo and associates, the features
Initial approach
that were associated with enlargement of the lesion
Slit-lamp examination and anterior segment
included medial location of the mass on the iris and
~ BASICS
photography
presence of pigment dispersion onto the adjacent
iris and anterior chamber angle structures (3)[A]. lOP measurement
Another article by Kliman and coworkers found a Perform gonioscopy to assess angle involvement by
DESCRIPTION strong association between light iris color (blue, tumor or seeds
Iris melanoma represents a malignant melanocytic gray, or green) and the presence of iris melanocytic Perform transillumination to rule out ciliary body
neoplasm arising from the iris stroma. Iris melanoma lesions {4)[A]. involvement
is uncommon, representing only 4% of all uveal UBM to measure thickness and to rule out
Genetics
melanomas. In a series of 169 consecutive patients Iris melanomas can demonstrate monosomy, partial associated ciliary body involvement or the presence
with iris melanoma, elevated intraocular pressure monosomy, or disomy of chromosome 3, 6, or 8 on of a cystic lesion
(lOP) was found in 30% of cases. The main genetic testing performed with microarray through AS-OCT can also be useful for imaging small,
mechanism for the elevated pressure was fine needle aspiration biopsy (FNAB). nonpigmented iris lesions. although it is limited by
mechanical obstruction of aqueous outflow from These genetic features have been proven to be posterior shadowing in more pigmented, larger
solid tumor or seeding (2)[A]. related to high risk (monosomy) or low risk (disomy) lesions
Iris melanoma has potential to metastasize to liver, for systemic metastasis. Follow-up i spec:ial considerations
lungs. or skin. Follow-up every 6 months after treatment of iris
GENERAL PREVENTION melanoma to evaluate tumor regression and rule out
Iris melanoma can assume different clinical Decrease sun exposure
presentations such as circumscribed, diffuse, recurrence
Periodic follow-up of suspicious iris lesions with Slit-lamp examination. anterior segment
tapioca, or trabecular meshwork configuration. Size,
ophthalmologist photography, UBM, goniosoopy, lOP measurement.
shape, and degree of pigmentation can vary from
case to case. Similar to iris nevus. iris melanoma can PATHOPHYSIOLOGY and transillumination should be repeated at every
cause corectopia and ectropion of the pupillary Malignant transformation of melanocytic iris stromal visit.
margin. More than 80% of iris melanomas are cells Systemic work up should be performed every
located in the inferior half of the iris. 6 months lifelong to rule out the presence of
- Circumscribed iris melanoma is the most common
ETIOLOGY systemic metastasis.
Unknown
type and presents as awell-defined mass in the Physical exam and liver function tests twice a year
iris stroma. COMMONLY ASSOCIATED CONDITIONS and liver MRI and chest X-Ray once a year, lifelong.
- Diffuse iris melanoma is less common and tends Unilateral secondary glauooma Diagnostic Procedures/Other
to produce acquired hyperchromic heterochromia Ocular melanocytosis FNAB for cytology or cytogenetic analysis is a useful
with secondary glaucoma due to infiltration of the
tool in the diagnosis of borderline iris lesions. The
~ DIAGNOSIS
trabecular meshwork. by tumor cells. It can affect
specimen should be interpreted by an experienced
the entire iris or only patches of its surface.
ophthalmic cytopathologist.
-Tapioca melanoma is a rare variant that presents
characteristic translucent. fine nodules on the HISTORY Pathological Findings
surface of the tumor resembling tapioca pudding. Slow-growing pigmented or non-pigmented iris
lesion (iris melanoma) noticed by the patient or the Jak.obiec and associates described the
-Trabecular meshwork melanoma affects the angle histopathologic features of 189 cases of excised iris
without the presence of a distinct mass, and it is ophthalmologist on a routine eye visit
Can be associated with pain or decreased vision in melanomas and found that only 13% ofthem
usually associated with secondary ipsilateral presented spindle B and epithelioid cells (6)[A].
glaucoma, which can cause a delay in diagnosis cases of iris melanoma with secondary glaucoma
due to its resemblance to pigmentary glauooma. Some borderline cases of iris nevus are difficult to
PHYSICAL EXAM differentiate from low-grade iris melanoma, even for
- Other less common presentations include
spontaneous hyphema or iridocyclitis. Secondary glaucoma with iris nevi is rare; therefore, experienced pathologists.
- Seeding of tumor cells on the iris surface or on the elevated lOP should raise suspicion of malignancy. DIFFERENTIAL DIAGNOSIS
anterior chamber angle is a characteristic finding In a series of 169 patients with iris melanoma Iris nevus
in many cases of iris melanoma. It is usually described by Shields and associates. the mean age
Iris melanocytoma
visualized as clumps of fine pigmented cells on at the time of diagnosis was 43 years, all patients
were white, the mean tumor base was 6 mm, mean Foreign body in the anterior chamber
slit-lamp exam or goniosoopy.
tumor thick.ness was 2 mm, the mean number of lrido-corneal endothelial (ICE) syndrome
clock hours of tumor involvement in the iris as well Iris lymphoma
as tumor seeding on the iris and on the anterior Iris pigment epithelium (IPE) cysts
chamber angle was 4, and extraocular extension Adenoma (epithelioma) of the IPE
was present in 10 eyes (6%; ref. 5)[A]. Iris metastasis
Other oommon features of iris melanoma are Iris granuloma
intrinsic and feeder vessels. Iris juvenile xanthogranuloma (JXG)
370
IRIS MELAIIOMA
4. Kliman GH, Augsburger JJ, Shields JA. Assodation

. TREATMENT ONGOING CARE between Iris color and Iris melanocytlc lesions. Am 1
Ophtha/mc/ 1985; 100:547-548.
MEDICATION FOLLOW-UP RECOMMENDATIONS 5. Shields CL, Shields JA. Materin M, et al. Iris
FirstUne Biannual eye evaluations induding slit-lamp exam, melanoma: risk. factors for metastasis in 169
Currently, there are no effective medications for ti1e gon loscopy, antertor segment photography, UBM, consecutive patients. Ophthalmology 2001 ;1 08:
treatment ofiris melanoma. transillumination, and lOP measurement 172-178.
Second Une PetlMt Monitoring 6. Jalcobiec FA, Silbert G. Are most iris melanomas'
After surgital treatment, either with plaque really nev17 A dlnlcopati1ologlc study of 189
In a report by Shields and associates, lesions.Arrh Ophtha/mc/ 1981;99:2117-2132.
brachyti1erapy or excision, atropine 1'lb once a day radiation-fl!lated complications after plaque
and Maxltrol (ointment) 3 times a day for a period of brachytherapy for iris melanoma at 5-year follow-up 7. Shields CL, Naseripour M, Shields JA, et al. Custom
6 weeks are prescribed to decrease inflammation, lnduded corneal eplthellopathy (9%), cataract designed plaque radlothera py for non resectable
pain, and to avoid the formation of posterior (70%), and neovascular glaucoma (8%). After iris melanoma in 38 patients: b.Jmor control and
syned11ae. treatment, ti1e incidence of elewted lOP at 5 years ow lar complications. Am 1 Ophthalmol 2003;135:
Bevacizu mab (Avasti n) 0.05 mg intravitreal or was 33%. Tumor recurrence was found in 8%, and 648-656.
intracameral injection can be used in association en udeation was necessary in 13% at 5 years (7)[A]. 8. Shields CL, Furuta M, Thangappan, et al.
with plaque radlotherai'Y or surgical excision, Metastasis of uveal melanoma
Systemic work up should indude physitaI exam and millimeter-by-millimeter in 8033 conseaJtive eyes.
because iris melanom a was demonstrated to have Iiver function tests twice a year and MRI of the Iiver
vaswlar endothelial growth factor (VEGF) receptors Ard! Ophtha/mc/ 2009;127:989-998.
and dhest X-ray once a year to rule out ti1e presence
according to reports from the ophthalmic literature. of metastasis.
ADDITIONAL TREATMENT DIET ADDITIONAL READING
lssue.s for Refett'al
Glaucoma-filtering procedures sud1 as trabewlectomy
No dietary restrictions A Sea AIID {Tapic, Alprilllm, Electronic
PATlENT EDUCATION ~ Mlldil Element)
should be avoided because of the risk for spread of
tumor cells outside the eye through ti1e opening. A Avoid excessive sun exposure
WNW.fighteyecancer.com
preferred meti1od for lowering ti1e lOP in these tases PROGNOSIS WNW.mallgnantrnelanomalnfo.com
Is through the use of glaucoma medications or laser In a recent retrospective study of 803 3 cases of uveal WNW.retinoblastomainlo.com
cydophotocoagulation. melanoma, t11ere were 2851rls melanoma cases. The WNW.eyecanc:erinfo.com
SURGERY/OlliER PROCEDURES authors found a rates of metastasis of 0.5%, 4%, and WNW.eyecancerbook.com
Lesions with unequivocal dowmented growth 7% at 3, 5, and 10 years, making this tumor less likely WNW.etrf.org
require treatment. to metastasize than choroidal melanoma (S)[A].
Excisional biopsy (iridectomy, iridocyclectomy, or Metastases from iris melanoma are more common in
iridogoniocydectomy for cases with concomitant older patients. patients with secondart glaucoma, . CODES
cllla ry body Involvement) should be considered In extraowlar extension, and angle involvement (risk
cirt1.1mscri bed tu mars, in the absence of seeds or factors; ref. S)]A).
elewted lOP. ICD9
COMPLICAnONS 190.0 Malignant neoplasm of eyeball, except
I
Plaque radiotherapy can be used to treat selected Cataract formation after surglcaI treatment with conJunctiva, cornea, retina, and choroid
cases of unresectable iris melanoma or when the either surgical resection or plaque radioti1er.:~py
tumor is located in the patient's only eye with Secondart glaucoma (more common in patients with
useful vision. It can be used for larger tumors, those seeding and angle involvement) CLINICAL PEARLS
with a diffuse configuration, and in cases with tumor
seeding in the anterior chamber or angIe. Plaque is The management of iris melanoma with elevated lOP
an alternative for eyes with iris melanoma in cases REFERENCES Is challenging and requires enudeatlon In
that would have been enudeated In the past m[AJ. approximately 60% of cases. Filtering glaucoma
1. Shields CL, Shields JA. Milite J, et al. Uveal proc:edures should be avoided in these patients due to
Enucleation should be considered for diffuse b.Jmors melanoma in teenagers and children. A report of the rlsk. of extraocular extension.
affecting mone than half of the iris surface and 40 cases. Ophtfla/mology 1991 ;98:1662-1 666.
trabecular meshwork. in cases with secondary
glaucoma not responsive to IOP:I~ring .
2. Shields CL.Materin M, Shields JA, et al. Factors
associated with elevated intraocular pressure in
medications. diffuse tumor seed1ng 1nto the antenor
eyes with iris melanoma. BrJ Ophthalmol
dhamber and/or painful eye. VIsual status of the
contra later.:~! eye should be assessed before 2001 ;85:666--669.
proceeding with enucleation. 3. Territo C, Shields CL, Shields JA. et al. Natural
course of melanoc:ytic tumors of the iris.
IN-PATIENT CONSIDERATIONS Ophthalmologj19B8;95: 1251-1255.
Iris melanoma is managed on an outpatient basis.
371
IRIS NEVUS
Carlos Bianciotto
Carol L. Shields
~ BASICS
RISKFAOORS DIAGNOSTIC TESTS & INTERPRETATION
White race Lab
Inferior iris location (>80% of iris nevi and Initial lab tests
DESCRIPTION melanomas are located below the horizontal Ultrasound biomicroscopy (U BM). anterior segment
Melanocytic tumors of the iris stroma include a wide meridian of the iris) optical coherence tomography (AS-ocn. gonioscopy,
spectrum of lesions, ranging from benign iris nevus A report by Kliman and associates found a strong and transillumination.
to malignant iris melanoma. correlation between light iris color (blue, gray, or
They can display a varied clinical presentation in Imaging
green) and the presence of iris melanocytic lesions. Initial approadl
terms of size, shape, and degree of pigmentation.
GENERAL PREVENTION Slit-lamp examination and anterior segment
Iris nevi are differentiated from freckles in that they
Decrease sun exposure photography
efface the normal iris stromal architecture. Iris
freckles can be found in >50% of the population - Periodic follow-up of suspicious iris lesions with Measurement of lOP
and have no malignant potential. ophthalmologist Perform gonioscopy to assess angle involvement by
Iris nevi usually become clinically apparent during ETIOLOGY tumor or seeds
puberty or young adulthood. Unknown Perform transillumination to rule out ciliary body
involvement
A special variant of iris nevus is melanocytoma, COMMONLY ASSOCIATED CONDITIONS
which is more darkly pigmented and can undergo UBM to measure thickness and to rule out
Ocular melanocytosis in the case of sector iris nevi associated ciliary body involvement or the presence
necrosis and pigment dispersion, with subsequent
secondary glaucoma through obstruction of the of a cystic lesion
trabecular outflow-a condition referred to as
"melanocytomalytic glaucoma". It can also present
~ DIAGNOSIS AS-OCT can also be useful for imaging small,
non-pigmented iris lesions, although it is limited by
with an associated ciliary body component. Similar HISTORY posterior shadowing in more pigmented, larger
to other iris nevi, it can rarely undergo malignant Stable iris lesion noticed by the patient or the lesions
transformation. ophthalmologist on a routine eye visit Follow-up 1ft special considerations
Iris nevi can rarely grow into a melanoma, with a PHYSICAL EXAM Follow-up every 6 months for iris nevi to document
5% rate of transformation of suspicious borderline Iris nevus can assume multiple clinical presentations stability.
iris nevi into melanoma within 5 years of diagnosis. and can appear as small or large, circumscribed or Slit-lamp examination, anterior segment
diffuse, flat or dome shaped, and pigmented or photography, UBM, gonioscopy, lOP measurement.
ALERT non-pigmented lesions. Iris nevi can produce and transillumination should be repeated at every
A pigmented iris tumor that shows progressive secondary changes such as corectopia, ectropion, visit.
enlargement could represent a melanoma. secondary iris pigment epithelial cyst, or cataract. Follow up every 62 months to document stability of
Further, iris nevi can stimulate the development of the lesion by an ophthalmologist.
Geriatric Considerations intrinsic and feeder vascularity.
Iris nevi are usually discovered in childhood and Diagnostic Procedures/Other
Secondary glaucoma with iris nevi is rare; therefore, Fine needle aspiration biopsy (FNAB) for cytologic
remain stable into adulthood. elevated lOP should raise suspicion of malignancy. analysis plays a key role in the diagnosis of suspicious
Pediatric Considerations Another type of iris nevus is the sector iris nevus, in iris lesions. The specimen should be interpreted by an
Iris nevi are typically discovered in childhood, often in which the lesion extends from the pupillary margin experienced cytopathologist.
the preteen years, as a pigmented lesion of the iris. to the angle and can affect 1 or multiple clock-hour
positions. This is considered by some authors to be a
EPIDEMIOLOGY localized form of ocular melanocytosis.
Prevalence Tapioca nevus presents with a multinodular surface
Iris freckles can be found in ~60% of the that resembles tapioca pudding, similar to some iris
population. melanoma cases.
Iris nevi occur in ~ 5% of the population. Diffuse iris nevus. also called Cogan-Reese
syndrome, is part ofthe iridocorneal endothelial
(ICE) syndrome and is not a true nevus.
372
IRIS NEVUS
Patholog/GIJ Findings Additional '111el'ilples ADDITIONAL READING

Iris nevi are usually composed of low-grade spindle Topical glaucoma medications should be used in
cells. Some borderline cases of lr~ nevus are difficult patients with secondary lOP elevation, and Ter~to c, Shields CL. Shields JA. et al. Natural
to differentii!le from low-glllde iris melanoma, I!VI!n cycloplegics and topical steroids should be used in course of melanocytic tumors of the iris.
for experienced pathologists. patients with assodated hyphema. Ofilthalmology 1988;9 5:1251-1255.
Kliman GH, Augsburger JJ, Shields JA. Association
DIFFERENTlAL DIAGNOSIS SURGERY/OTHER PROCEDURES between iris color and iris melanocytic lesions. Am J
o Iris melanoma Only lesions that show documented growth require Of/!thalmo/1985;1 00:547-548.
o Iris melanocytoma treatment.
Fineman M, Shields JA. Eagle RC, et al.
o Ocular melanocytosls INPATlENT CONSIDERATIONS Melanocytom alytic glaucoma in eyes with neO'Oiic
o Foreign bodies in the anterior chamber Outpatient management only iris melanocytoma. Ophthalmology 1998;1OS:
o ICE syndrollll! 492-496.
o lr~ lymphoma Shields JA. Sanborn GE, Augsburger JJ. The
o Iris pigment epithelium 0PEl cysts
ONGOING CARE differential diagnosis of malignant melanoma of the
o Adenoma (epithelioma) of the IPE FOLLOW-UP RECOMMENDATIONS iris: A clinica Istudy of 200 cases. Ophthalmology
Iris metastasis Biannual eye evaluations induding slit-lamp exam, 1983;90:716-720.
o Iris gra nu lorna gonioscopy, anterior segment photography, UBM, o Shields CL. Shields JA, Shields MB. Prealence and
o Iris juvenile xanthogranuloma (JXG) transillumination, and lOP measurement mechanisms of secondary intraocular pressure
elevation in eyes wi1h intraocular tumors.
rl TREATMENT
MEDICATION
Pathmt Monitoring
Every 6-12 months by oph1ha lm ologist
DIET
No dietary restrictions necessary
Q
Ofllthalmology 1987;94:839-1!46.
Se1 Also {Topic, Alprllllm, Eleelronlc

~ MICiia Element)
None
PATlENT EDUCATION
ADDITIONAL TREATMENT Avoid excessi~ sun exposure o v.ww.fighteyec:ancer.com
General Measures o v.ww.malignantrnelanomainlo.com
PROGNOSIS 'hWW.re11noblastomalnfo.com
o lr~ nevi only require observation every 6 months by
Good; the rate of malignant transformation of Iris nevi o v.ww.eyecancerinfo.com
an ophthalmologist, and baseline photoglllphs and is very low (< 5% at 5 years of follow-up), based on a
other pertinent tests, such as UBM, anterior o v.ww.eyecancerbook.com
study by Territo and assodates.
segment ocr. gonloscopy, and translll umlnation, o v.ww.etrf.org
should be performed. COMPLICAnONS
o If documented growth is evidenced, then the iris Secondary cataract formation
lesion should be treated like an Iris melanoma. o Secondary glaucoma (more common in patients with . CODES
luues far Referral seeding and angle involvement)
Documentation of growth or secondary lOP elevation ICD9
in an eye with a melanocytic iris lesion 224.0 Benign neoplasm of eyeball, except conjunctiva,
cornea, retina, and choroid
CLINICAL PEARLS
o Only ""S% of untreated suspicious melanocytic iris
lesions show growth over the first 5 years aftEr
diagnosis.
I
373
IRIDS-UVEITIS IN CHILDREN
Sharon S. Lehman
~ BASICS ETIOLOGY
Anterior
-Juvenile idiopathic arthritis (JIA)
~ DIAGNOSIS
DESCRIPTION o Most common cause of noninfectious anterior HISTORY
Uveitis: intraocular inflammation uveitis May be key to determining diagnosis
-Anterior: involving iris and ciliary body (e.g., iritis, o Oligoarticular: greatest risk. of uveitis Ocular symptoms (NOTE: absence of symptoms does
iridocyclitis) o Systemic: least risk. of uveitis not rule out uveitis, especially in JIA)
- Intermediate: involving pars plana (i.e., pars o Eye involvement may precede joint activity Medical illnesses
planitis) o No correlation between eye and joint disease Review of systems, family history, sexual history, and
- Posterior: involving retina (i.e., retinitis) and o Onset and activity is asymptomatic with white, travel history
choroid (i.e., choroiditis), and, possibly, the optic quiet eye
nerve (papillitis or optic neuritis) and vitreous o ~50% may require long-term treatment
PHYSICAL EXAM
(vitreitis) o Enthesis-related (H LAB27): ankylosing
General physical exam
- Panuveitis: 2 or more of the above spondylitis. Reiter syndrome, inflammatory Complete ophthalmologic examination
bowel disease. psoriatic arthritis -Visual acuity testing
EPIDEMIOLOGY - Intraocular pressure
- Idiopathic
Incidence -Trauma - Conjunctiva
4.3--ii.9 per 100,000 - BehQ!t's disease o Ciliary flush, nodules, episcleritis, and scleritis
Prevalence - Sarcoidosis -Cornea
- Kawasaki disease o Edema from inflammation or glaucoma
30 cases per 100.000 (1 )[A] o Keratitic precipitates: collections of
- Tubulointerstitial nephritis and uveitis (TINU)
Uveitis is much less common in children than in - Masquerade syndromes: inflammatory cells deposited on endothelium;
adults o Retinoblastoma smallnongranulomatous; larger with greasy
o Lymphoma or leukemia appearance--granulomatous (Mutton Fat)
RISK FACTORS o Band keratopathy
Genetic predisposition (HLA-827) o Trauma and/or intraocular foreign body
o Juvenile xanthogranuloma (JXG) o Dendrite or geographic ulcer with HSV
- Juvenile idiopathic arthritis (J lA) is the most o Interstitial keratitis
o Coat's disease
common cause other than idiopathic causes and -Anterior chamber
trauma - Infectious
o Herpes simplex or varicella zoster virus o Cells measured + 1 to +4 or cells/slit-lamp field
- Pauciarticular disease o Flare: leakage of protein
o Syphilis, tuberculosis, Lyme's disease
-Age < 7 years at presentation o Hypopyon: white blood cells settled in lower
o Parasitic infection (e.g., toxoplasmosis)
-ANA positive, RF negative anterior chamber
- Female gender Intermediate
o Pseudohypopyon: tumor cells
Other autoimmune diseases - Idiopathic
-Iris
- Sarcoidosis
Pre- or postnatal infection (e.g., toxoplasmosis, o Posterior synechiae: adhesion between iris and
- Inflammatory bowel disease
toxocariasis, tuberculosis) lens capsule
- Multiple sclerosis
See Etiology - Lyme's disease o Peripheral anterior synechiae: adhesion between
Genetics -Uncommon in JIA iris and peripheral cornea
o neovascularization
HLAB27 Posterior
-Associated with anterior uveitis, ankylosing - Lens: cataract
- Infectious o Gonioscopy
spondylitis, Reiter syndrome, inflammatory bowel o Toxoplasmosis: most common
-Vitreous cells, blood, or membranes
disease, and psoriatic arthritis o Less frequent: toxocariasis, tuberculosis, syphilis,
-Retina
Genetic predisposition may be coupled with Lyme's disease, cat scratch disease, parasitic,
o Cystoid macular edema, cotton wool spots,
environmental trigger to produce disease fungal, bacterial, and viral including HSV.
hemorrhage, vascular sheathing,
varicella, and cytomegalovirus
GENERAL PREVENTION neovascularization, or detachment
-Noninfectious
Appropriate monitoring of systemic disease and -Choroid
o Masquerade syndrome
periodic ophthalmologic examination of those at risk. o Dalen-Fuchs nodules: yellowish lesions with
o Sarcoidosis
Avoidance of infection hyperpigmentation seen with sarcoid and
o Sympathetic ophthalmia
sympathetic ophthalmia
PATHOPHYSIOLOGY o Vogt-Koyanagi-Harada disease
-Pars plana
Dependent upon etiology Panuveitis o Snowban king: white masses
JIA: Pathophysiology unknown -Infection o Neovascularization
- Systemic disease - Optic nerve: swelling, atrophy, neovascularization,
- Masquerade syndrome and infiltration
Cataract, glaucoma, band keratopathy, posterior
synechiae. chorioretinal scar, exudative retinal
detachment, hypotony, and visual loss
374
IRITIS-UVEITIS IN CHILDREN
DIAGNOSnC TESTS & INTERPRETAnON - Anti-tumor necrosis factor antibody medications COMPLICAnON5
Directed worlc: up based on ~istory and physical (second line for JIA) Band keratopathy
findings o lnfllxlmab, etanercept. adallm umab Cataract
Lab - 8-cell-directed therapy: Ritwdmab Posterior synechiae
Blood worlc: if no dear cause - lmmunosuppressives: Cyclosporine, tacrolimus, or Glaucoma
- ACE, ANA, ca ldum, CBC with differential. ES R. azathioprine Cystoid macular edema (CME)
Lyme titer (If geographic risk), RF, VDRIJFTAABS - AI kylating agents: Cyclophosphamide,
chlorambucil, etc. Hypotony
Urinalysis Disc edema
Imaging ADDmONAL TREATMENT VitreOuS hemormage
CXR General Measures Vrtreoretinal membrane
Orular ultrasound il no view Based on underlying disease and disability when Phthisis
present
Diagnostic l'tot:edulti/Other Permanent vision loss
Hand and Sl ]oint radiographs Issues for Refrnnll - May ocrur In up to 113 of uveitis patients
CT/MRI brain and sinuses Rheumatology ealuation in all patients wittlout - Posterior uveitis, CM E, and hypotony associated
obvious etiology with significant vision loss (3)[A]
High-frequency ultrasonographic biom icrD5COpy
Infectious disease, oncology, and other spedalties as
Lumbar puncture indicated
ANCA. HLAB27, other antibodies or titers. Tcell
counts, or HIV Additional Therapies REFERENCES
Stool for ova and pa rasltes Low-vision services
1. Nagpal A. Leigh JF, Acharya NR. Epidemiology of
Skin testing: allergy, anergy, and PPD Counseling for adjustment to vision loss and living uveitis in children./nt Ophtha/mol Clin 2008
with chronic disease Summer:411:1-7.
Additional ophthalmic testing
-ERG, VEP COMPLEMENTARY a ALTERNATIVE 2. Angeles-Han ST, Griffin KW, Le~man JT, et al. The
- Fluorescein angiography THERAPIES importance of visual function in the quality of life of
-OCT None known to be he!pful children wittl uveitis.J AAPOS 2010;14:163-168.
-Visual field testing 3. Smith JA, Mackensen F, Sen N. Epidemiology and
Biopsy: conjunctiva, lacrimal gland, aqueous, Chelation for band keratopathy course of disease in childhood uveitis. Ophtha/mol
vitreous. or retina 2009;1 16:1544-1551.
Cataract surgery
l'lltltologit:al Findings Glaucoma surgery
Dependent upon etlologlc agent Retinal laser, detachment repair ADDI110NAL READING
DIFFERENnAL DIAGNOSIS Drug-delivery implant
Retinoblastoma http://aappollcy.aappubllcatlons.org/cgl/
IN-PATIENT CONSIDERAnONS contentlfull/pediatrits; 117/5/1843.
Leu b!m ia or lymphoma
Trauma
Admission Crltetfa
Only required if systemic disease wanrants or treatment
lntraorular foreign body
Retinitis pigmentosa
with short-term Intravenous pulse steroids . CODES
I
Coat's disease ICD9
Juvenile xanthogranuloma $ ONGOING CARE
364.00 Acute and subacute iridocyd itis, unspecified
FOLLOW-UP RECOMMENDATIONS 364.3 Unspedfled l~docydltls
. TREATMENT Frequent eye examination to address ocular 714.30 Chronic or unspecified polyartiOJiar juvenile
complications of disease rheumatoid arthritis
MEDICATION Control systemic disease
FlmLine Monllllr systemIt treatment
Topical steroid: 1 drop in affected eYI! ranging from Patient Nlrmltodng CLINICAL PEARLS
q.i.d to every 15 min, based on initial severity and o Appropriate testing based on therapy
Aggressive elimination of i nilam mation should be
taper based on dinical picture o Medication doses based on weig~t periodically need the goal of trea1ment.
Cycloplegic agent to prevent synechiae and for pain to be adjusted as (hi ld grows. Multidisciplinary approach is necessary for
control
DIET successfuI treatment
SecondUne No typical dietary restrictions Always rule out leukemia and masquerade
Periocular injection of steroid syndromes.
Systemic therapy should be prescribed and managed PATIENT EDUCAnON
by physldan familiar with therapies and monitoring o I.WIW.aapos.orglfaq J istli litis
fur complications (e.g., rheumatologist). I.WIW.uveltls.org/
Least toxic systemic therapy should be instituted I.WIW.md)unctlon.comfarth~tls-juvenlle-rheumatold
when topical therapy is insuffident I.WIW.pgcfa.org
Systemic steroid (e.g., oral, intravenous) PROGNOSIS
Nonsteroidal anti-Inflammatory drugs: topical or o Ea rty and aggressive therapy can often prevent or
systemit have a minor role delay vision loss.
Nonsteroidal immunosuppressives
- Antimetabolites VIsual disability can significantly Impact quality of
o Methotrexate (for JIA first Iine, if fai Iing topical life {2)[AJ.
steroids)
o Mycophenolate mofetll
375
ISOlATED OCULOMOTOR NERVE [CRANIAL NERVE Ill] PALSY
Edsel B.lng
~ BASICS ETIOLOGY
Microvascular (e.g., diabetes, hypertension)
Lab
Aneurysm Blood sugar, glycosylated hemoglobin if is diabetes
DESCRIPTION Trauma suspected. Serum lipids can be drawn. Westergren
The 3rd cranial nerve innervates the levator palpebrae Tumor/infiltration (e.g., lymphoma, carcinoma) erythrocyte sedimentation rate and C-reactive protein
superioris, superior rectus, medial rectus, inferior if giant cell arteritis is suspected
Inflammation (e.g., sarcoidosis)
oblique, and inferior rectus. The pupillary fibers follow
the inferior oblique muscle. Pupil involvement in CN Ill Vasculitis Imaging
palsy is an efferent defect (unrelated to a relative Infection (e.g., meningitis) Initial approach
afferent pupillary defect). CT angiogram or MRangiogram, if the pupil is
~ DIAGNOSIS
involved
ALERT Follow-up It special considerations
In patients with non-traumatic cranial nerve Ill palsy In patients that were not initially imaged, but have
and ipsilateral pupillary dilation (efferent defect), HISTORY
The patient may have binocular diplopia with diagonal persistent non-improving deficit at 4 months, consider
posterior communicating artery aneurysm must be MRI.
separation. If the ptosis is severe enough to occlude
excluded.
the visual axis, the patient will not complain of Diagnostic Procedures/Other
diplopia. Lumbar puncture may be considered if neuroimaging
Pediatric Considerations and blood tests are not diagnostic.
Children <8 years of age should be closely monitored PHYSICAL EXAM
for amblyopia. Congenital3rd nerve palsies may be With a complete 3rd nerve palsy, there is a ptosis, DIFFERENTIAL DIAGNOSIS
caused by birth trauma. Compared with adults, it is and the eye is positioned downward and outward. Myasthenia can mimic pupil-sparing 3rd nerve palsy.
rare for aneurysms to cause CNIll palsy in children. -A truly pupil-sparing 3rd nerve palsy shows normal An "isolated medial rectus palsy" is unlikely to
Ophthalmoplegic migraine is a diagnosis of exclusion, pupillary function but complete loss of eyelid and represent a partial 3rd nerve palsy, but is more likely
with onset in childhood. Ophthalmoplegic migraine is eye movement subserved by the oculomotor nerve. to be an internuclear ophthalmoplegia or, perhaps,
-Aberrant regeneration may occur if the disrupted myasthenia. Giant cell arteritis can cause extraocular
uncommon and the ophthalmoplegia develops days
3rd cranial nerve fibers reroute themselves along muscle ischemia or 3rd nerve palsy appearance.
after the onset of head pain.
anomalous pathways. Most commonly, the ptotic Closely check for intorsion to ensure that CN IV is
Pregnancy Considerations lid will elevate on adduction or infraduction if intact. and check CN Vl and V2 sensation to
It is not common to have 3rd nerve palsy in pregnancy. there is lid-gaze synkinesis. The pupil may constrict exclude a cavernous sinus lesion.
Exclude pituitary apoplexy, gestational diabetes. or with adduction with pupil-gaze synkinesis. If there is isolated efferent pupillary dysfunction with
hypertension. -Aberrant regeneration is primary if there is no intact lid function and eye movement in an alert
preceding acute 3rd nerve palsy, and it is seen patient, Adie's pupil should be suspected.
PATHOPHYSIOLOGY with cavernous sinus lesions such as meningioma
The pupillary fibers of the oculomotor nerve are or aneurysm. Aberrant regeneration is secondary if
located superficially along the medial aspect of the it follows recovery from a 3rd nerve palsy (e.g.,
nerve. close to the posterior communicating artery. post-trauma or compression).
The pupillary fibers travel in the outer layers of the
nerve and are closer to the vasa nervorum nutrient
blood supply. As such, the pupillary fibers are less
likely to be affected by microvascular ischemia;
however, they can be compressed by a posterior
communicating artery aneurysm.
376
ISOLATED OCULOMOTOR NERVE (CRANIAL NERVE Ill) PALSY

MEDICATION FOLLOW-UP RECOMMENDATIONS ICD9
If giant cell arteritis is suspecb!d. give intravenous In patients wilt! new-onset CN Ill palsy and 378.51 Third or oculomotor nerve palsy, partial
steroids or minimum 60 mg p.o. prednisone. pupi1-sparing. follow ltle pupil daily for 5-7 days to
378.52 Third or oculomotor nerve palsy, total
ensure ltle pupil does not become involved.
General Meuutes PROGNOSIS
Optimize ltle patient's blood pressure. blood sugar, Patients with Ischemic 3rd nerve paIsles may have CLINICAL PEARLS
and cholesterol. If the adult patient has bothersome significant recovery of function. If patients with CN Ill
palsy hav!! not necovered after 12 monltls, strabismus Wilt! new-onset 3rd nerve palsy, pupil involvement
diplopia, the palsied ~can be patched. P~sm in the absence of trauma suggests cerebral
glasses can be attempted but usuaIIV are of IImlted surgery or ptosis repair can be considered. The surgical
rehabilitation of partial 3rd nerve palsy is better It!an aneurysm.
benefit because It!ere is marked incomitance. Children Patients wilt! apparent pupil-sparing 3rd nerve palsy
< 8 years of age sllauld be monitored closely to that for complete 3rd nerve palsy. With complete 3rd
nerve palsy, fixation of the globe to the medial canltlal should be followed for a week to ensure tl1ere Is no
determine the need for amblyopia treatment. pupilla!)' involvement.
tendon and fronta Iis sling for ptosis may provide
Issues for Refeml cosmetic improvement; howevet the patient may have "Medial rectus palsies are usually not partial lrd
Pupil Involving 3rd nerve palsy req ulres referra I to chronic diplopia. In patients with severe ptosis and nerve palsies.lntemudear ophthalmoplegia (e.g.
neurosurge!)' or neurology. Diabetes, hypertension, poor Bells' phenomenon, corneal exposure may be a demyelination/stroke) or myasthenia should be
collagen vascular disease, or temporaI arteritis relative contraindication to frontalis sling ptoSis suspected.
suspects should be referred to primary care dactof or repair. Significant head trauma Is usually required before a
medicine service. lrd nerve palsy wi II DCtUr.
COMPUCATIONS
IN-PATIENT CONSIDERATIONS Aneurysmal 3rd nerve palsy is a potentially Pain does NOT distinguish between compression
Admission CtiWrY life-threaten lng condition. Unrecogn lzed glant cell and microvascular infarction.
Pupil involving CN Ill palsies requiring neuroimaging arteritis may lead to bilateral blindness. Abenrant regeneration does NOT occur after
(e.g. CT angiogram or MR angiogram) sllauld be Ischemic 3rd nerve palsy.
assessed by neurosurgery or neurology
REFERENCES
1. Lanning B. Kline. Neuro-{){Jhthalmo/ogy re"Aew
manual, 61tl ed. Slack Incorporated: Thorofare, NJ,
2008.
2. Lanning B. Kline. Neuro-ophtha/mo/ogy. Section 5.
Basic and Clinical Sdencf! CDUISI!. American
Academy of Ophthalmology: San Frandsco, CA,
2009.
3. Burde RM, Savino PJ, Trobe JD. Clinical decisions in
neuro-ophthalmology, 3rd ed. Mosby: St Louis.
I
M0,2002.
377
ISOlATED TROCHLEAR NERVE (CRANIAL NERVE IV] PALSY
Edsellng
Lab
In adults. worl;-up for diabetes, hypertension and
DESCRIPTION HISTORY hypercholesterolemia should be considered.
4th nerve palsy is caused by weakness or paralysis of Patients with 4th nerve palsy usually complain of
the superior oblique muscle, and may result in binocular diplopia with vertical or diagonal Imaging
diplopia. separation that worsens on downgaze. They may If a suspected 4th nerve palsy does not improve after a
complain that objects appear tilted in the affected few months, neuroimaging should be perfonmed.
EPIDEMIOLOGY eye. DIFFERENTIAL DIAGNOSIS
Prevalence Patients often indicate tha~ when they tilt their Bilateral 4th nerve palsies can occur, especially after
4th nerve palsy occurs frequently after closed head head to the side opposite the palsy, they have less trauma. Myasthenia gravis, Graves ophthalmopathy,
trauma due to its unique anatomic dorsal midbrain or no diplopia. and skew deviation may mimic a 4th nerve palsy.
decussation.
PHYSICAL EXAM Patients with ocular myasthenia often have variable
ETIOLOGY On the palsied side, there may be deficient inferior ptosis and variability in their eye misalignment with
Trauma and microvascular ischemia are the most movement of the eye, when the patient looks diurnal variation. Patients with Graves
common causes of acquired 4th nerve palsy. downward and inward. The antagonist inferior ophthalmopathy may show lid retraction, proptosis,
Congenital 4th nerve palsies are also common. oblique muscle may appear to overact conjunctival chemosis, and often have abnormal
Review of childhood photos showing head tilt to the (over-elevation in adduction) on affected side. TSH. It is difficult for a non-specialist to differentiate
side opposite the palsy can help determine the The vertical separation between the 2 eyes often 4th nerve palsy from skew deviation. Patients with
chronicity of the lesion. increases when the head is tilted to side of the 4th skew deviation may have stroke history or brainstem
Tumor (e.g., pinealoma, tentorial meningioma), nerve palsy, explaining why patients usually tilt their findings, show incyclotorsion on Maddox rod
aneurysm, meningitis, and giant cell arteritis are head to the side opposite the palsy. testing, and often have less vertical strabismus in
uncommon causes of trochlear nerve palsy. the supine, compared to uprigh~ position.
Alternate-cover tests in different positions of gaze,
(3-step test) may help confirm the diagnosis of 4th Rarely giant cell arteritis may mimic or cause 4th
nerve palsy. nerve palsy
-Patients with superior oblique myokymia (due to
Patients with congenital 4th nerve palsy often have a
neurovascular compression of the 4th cranial
high vertical fusional amplitude (>3 prism diopters).
nerve root exit zone, multiple sclerosis, or posterior
Patients with 4th nerve palsy should not have ptosis, fossa tumor) may complain of episodic tilting.
but may volitionally close 1 eye to avert diplopia.
378
ISOLATED TROCHLEAR NERVE (CRANIAL NERVE IV) PALSY

ADDITIONAL TREATMENT PROGNOSIS ICD9
General Measures Many patients with microvascular or traumatic 4th 368.2 Diplopia
Patients may find it helpful to tiIt their head away from nerve palsy have some improvement 3-9 months after
378.53 Fourth nerve palsy
presentation.
the side of the palsied nerve. Pr1sm glasses are often
helpful If there Is vertical or diagonal diplopia. If the
patient has intolerable torsional diplopia, patching or REFERENCES CLINICAL PEARLS
translucent tape over a glasses lens can be of help.
1. Lanning B. Kline. NeurrHJphtha/mo/ogy ll!Mew With 4th nerve palsy, there is a characteristic head
Issues for Referral manual, 6th ed. Slack Incorporated: Thorofare. NJ, tilt to the side opposite to the palsy. Review of old
Airy nonresoMng 4th nerve palsy should be referred 2008. photos (e.g., photo I.D.) may help determine
for ophthalm k: assessment. chron icily of 4th nerve palsy.
2. Lanning B. Kline. Neuro-cphtha/mo/ogy. Seaion 5.
SURGERY/OTHER PROCEDURES Basic and Clinical Sdence Course. American 4th nerve palsy can occur even after relatively minor
If new-onset diplopia does not impl'lM! after a year, Acaderrry of Ophthalmology: San Ffandsco, CA, head trauma.
and prism glasses do not help the patient. strabismus 2009.
surgery can be considered. l Burde RM, Savino PJ, Trobe JD. COnical decisions In
MJurcrophthalmology, 3rd ed. Mosby; St Louis,
M0,2002.
379
JUVENILE IDIOPATHIC ARTHRITI5-RELATED UVEITIS
Darrell E. Baskin

Risk factors for developing JIA uveitis include ANA
positivity, early age at onset of arthritis (<6 years),
Ophthalmic features of JIA uveitis may include:
-Bilateral anterior uveitis with a chronic course; in
most cases, both eyes are involved within a few
DESCRIPTION and female sex. months of each other.
Juvenile idiopathic arthritis (JIA)-related uveitis is a - It is usually a nongranu lomatous uveitis; however,
Genetics
group of idiopathic arthritides with an onset before recent studies suggest that granulomatous
HLA-DRB 1 has been linked with an increased
16 years of age that persists longer than 6 weeks. inflammation may be more common than
susceptibility to develop JIA.
There are 7 subtypes of JIA previously thought, particularly in
HLA-DRB 113 has been associated with the
-Systemic arthritis: Arthritis in one or more joints Africaii-Americans and ANA-positive children.
development of JIA uveitis.
accompanied or preceded by fever and - One should look for uveitic complications, such as
accompanied by one of the following: Evanescent, PATHOPHYSIOLOGY posterior synechiae, cataract, band keratopathy,
erythematous rash, generalized lymph node Abnormal immune responses have been glaucoma, hypotony, and cystoid macular edema
enlargement, hepatomegaly and/or splenomegaly, documented in JIA patients. but the precise etiology (CME).
or serositis remains unknown. - Chronic anterior uveitis is the most common,
- Oligoarthritis: Arthritis in 1--4 joints in the first Serologic abnormalities such as antineutrophil followed by acute anterior uveitis. recurrent
6 months of disease. Oligoarthritis is further antibody (ANA), RF, and anti cyclic citrullinated anterior uveitis, and finally, anterior uveitis with
subcategorized as persistent oligoarthritis peptide (antiCC P) have implicated self-targeting vitreitis.
(affecting not more than 4 joints throughout the antibodies. but the exact target remains unknown. DIAGNOSTIC TESTS & INTERPRETATION
disease course) or extended oligoarthritis
(affecting a total of more than 4 joints after the ETIOLOGY Lab
initial 6 months) Etiology is unknown. There are no confirmatory tests since JIA is a
- Polyarthritis (RF negative): Arthritis in 5 or more COMMONLY ASSOCIATED CONDITIONS diagnosis of exclusion. One may consider the
joints in the initial 6 months and a negative test following tests if the diagnosis has not already been
See 7 subtypes in Description.
for rheumatoid factor (RF) made:
~ DIAGNOSIS
- Polyarthritis (RF positive): Arthritis in 5 or more Erythrocyte sedimentation rate, C-reactive protein,
joints in the initial 6 months and a positive test for platelet count, ANA, RF. and anti-CCP. One may
RF on 2 occasions at least 3 months apart during consider laboratory tests for Lyme disease and
the first 6 months of disease HISTORY sarcoidosis as well.
- Psoriatic arthritis (PsA): Arthritis and psoriasis or Many patients with JIA uveitis do not have any
Imaging
arthritis and at least 2 of the following: Dactylitis, ocular symptoms. which is the reason for regular
One may consider optical coherence tomography if
nail-pitting or onycholysis, or psoriasis in a ophthalmic screening examinations according to
CME is suspected.
first-degree relative disease subtype.
- Enthesitis-related arthritis (ERA): Arthritis and/or One should inquire about decreased vision, history DIFFERENTIAL DIAGNOSIS
enthesitis (tenderness at the insertion of a tendon, of pink eye, and photophobia. Sarcoidosis is the disease that most closely mimics
ligament, fascia, or capsule to bone) with at least JIA uveitis.
PHYSICAL EXAM
2 of the following: Presence or history of sacroiliac Other diseases to consider include: Lyme disease,
Patients may be categorized according to type of
joint tenderness, HLA-B27 antigen, onset of uveitis as standardized by the SUN group (see trauma, Kawasaki disease, and herpetic
arthritis in male over 6 years of age, acute keratouveitis.
Additional Reading").
(symptomatic} anterior uveitis, or history of -Acute anterior uveitis: Anterior uveitis that is
ankylosing spondylitis, ERA, sacroiliitis with sudden in onset and has <3 months duration
inflammatory bowel disease, Reiter syndrome or
. TREATMENT
- Recullent anterior uveitis: Anterior uveitis of less
acute anterior uveitis in a first-degree relative than 3 months duration but with recurrent MEDICATION
- Undifferentiated arthritis: Arthritis that fulfills episodes that occur >3 months apart without First Line
criteria in no category or in 2 or more of the above medication Topical corticosteroids are first line therapy to treat
categories - Chronic anterior uveitis: Anterior uveitis that lasts anterior uveitis {treat cells, not flare). The dose is
EPIDEMIOLOGY longer than 3 months titrated according to the cellular reaction, the
-Anterior uveitis with vitreitis: Anterior uveitis with presence of posterior synechiae, and band
Incidence
vitreitis and this does not include snowbanking or keratopathy. The goal is to use the least amount of
The exact incidence of JIA is unknown. The reported
spillover cells in the vitreous steroid that will maintain quiescence. If the steroid
incidence varies from 0.008-0.226 per 1,000 children
per year. drop must be used more than 4 times per day, then
a second line drug should be used.
Prevalence Short-acting mydriatics and cycloplegics should be
The exact prevalence of JIA is unknown. The
used. Short acting allows the pupil to move and not
reported prevalence varies from 0.07--4.01 per develop synechiae either in a dilated or non-dilated
1,000 children. state. Be careful not to induce amblyopia by
The prevalence of uveitis within known JIA constant cycloplegia.
populations varies from 4-38% worldwide. Analysis
of pulled data suggests a cumulative prevalence of
uveitis of 8.3% of JIA patients.
380
JUVENILE IDIOPATHIC AR111RITIS-RELATED UVEITIS
SacondUna Sabri K. Saurenmann RK. Silverman EO, et al.

Pe~ocular Injections of steroids may be necessary. ONGOING CARE Course, complications, and outcome of juvenile
But they ca ny a hlgher risk of glaucoma and arthritis-related uveitis. 1AAPOS. 2008;
cataract formation. FOLLOW-UP RECOMMENDATIONS 12:539-545.
0 ral corticostl!roids should not be used for Pediatric aphthalmologist American Academy of l't!diatrics 5ectioo on
prolonged periods of time given the adverse impact Pediatric rheumatologist Rheumatology and Section on Ophthalmology.
oo growth and booy development. CDnSider uveitis specialist Guidelines for ophthalmologic examinatiDnS in
Naproxen may have some benefit as a l'lltient Monitoring children with Juvenile rheumatoid 01 rthrltls.
steroickpari ng agent; it is the most frequent Screening for eye disease once JIA is diagnosed is Pediatrics. 1993;92(2):295-296.
nonsteroidal anti-inflammatory drug prescribed for mandatory. Referral to ophthalmologist should be
patients with JIA. performed promptly. Current guidelines for screening
Methotrexate (MTX) is the most commooly used are summarized in Table. Table 1 Frequency of Ophthalmologic
agent when adjunctive therapy is needed. It usually VIsits for Children With Juvenile
ta lets 4-8 weeks for an effect to be seen. Liver PATIENT EDUCAnON Rheumatoid Arthritis (JRA) and Without
enzymes and CBC should be monitored every Parents should be taught that the ocular inflammation Known Iridocyclitis
4-fiweeks. in JIA is often asymptomatic and therefore, regular
screening appointments are necessary. They should Age of Onset
Cyclosporine and azathioprine have also been used
also be taught that any pink eye should not be
with success.
dismissed as viral until evaluated by an
The biologics are also being Increasingly utilized. ophthalmologist
Atthoug h etanercept works well for joint disease, In
a randomized, controlled trial, it was no better than PROGNOSIS
placebo for JlA uveitis. However, infliximab and In some of the more recent stJJ.dies, over 90% of eyes
adalimumab appear to be effective for treating JlA with JIA uveitis, at final visit had a visual acuity of
uveitis. 20/40 or better; and over 97% of patients (using
better-seeing eye) had 20140 or better vision.
General Meuutes COMPUCAnONS
If uveitic complications develop. surgery may be See "Surgery!Other Procedures
warranted to address these. See Surgery/Other High Ft1k (H) indicates ophthalmologic exam inatims Mry
Procedures.
ADDITIONAL READING 3-4 montlls. Medium risk (M) indicates ophtl1almolagic
l!l!OimhaUons evety 6 mcnths. LDw rlsk (l) TndiCilles
SURGERY/OTHER PROCEDURES ophtl1almologk: ex<~mlne~ons evety 12 months. MA
Cataract formation is the most common Jabs DA, Nussenblatt RB, Rosenbaum JT;
Indicates antinuclear antibody le5t
vision-threatening complication of JIA uveitis. Up to Standardization of Uveitis Nomendature (SUN) IAll patient! ..e tvn5idered at low risk 7 years alter the unset
60% of children with JIA uveitis develop cataract Working Group. Standardization of uveitis rrf their arthritis and should have yearly ophthalmologic
due to chronic inflammatioo andfor cortkosteroid nomenclature for reporting clinical data. Resu Its of ex<~minations lnd!fin~ly
the First International Workshop. Am 1 Ophtha/mol. I All patient! an! considl!l'l!d at low risk 4 yrs after !11! onset of
use. their arlklt!s and should have yearly ophthalmologic
-In the past, pars plana lensectcmy, amerlor 2005;140: 509-516.
e~Camha~ons lnd!finltely.
vitrectomy and removaI of the capsule were Kesen MR. Setlur V, Goldstein DA. Juvenile lAL high-risk patients an! considered at medium risk 4 year
performed. This required lifelong dependence on Idiopathic arthritis-related uveltls./nt Ophthalmol after the onset of their ar1hrnis.
aphakic spectades or contact lenses. Clln. 2008; 48(3):21-38.
- Recently, success has been achieved with
phacoem ulslflcatlon, poste~or capsulorrhexls, . CODES
anterior vitrectomy, and intraorular lens
I
placement (often accompanied by an injection of ICD9
triamcinolooe acetonide into the anterior 364.00 Acute and subacute I~docyd ltls, unspecified
chamber).
364.3 Unspedf!ed iridocyclitis
Glaucoma may be managed by topical therapy; but 714.30 Chronic or unspecified polyarticular juvenile
If drops do not control the lntiCIOOJiar pressure, then meumatoid arthritis
trabeculectomy and antimetabolite use or glaucoma
drainage devke placement may be necessitated.
Band keratopathy may require chelation therapy, but
recurrences are <ornmon.
381
JUVENILE XANTHOGRANULOMA (NEVOXANTHOENDOTHEUOMA]
Kristina Pao
Believed to result from a granulomatous reaction of
histiocytes in response to a nonspecific physical or
HISTORY
Most patients with JXG are asymptomatic.
Acute pain and photophobia due to secondary
DESCRIPTION possibly infectious stimu Ius. glaucoma
Juvenile xanthogranuloma (JXG) is a nonneoplastic
form of non-langerhans cell group (class II) of COMMONLY ASSOCIATED CONDITIONS PHYSICAL EXAM
histiocytic proliferative disorders typically seen in Neurofibromatosis-! Exam head, neck, trunk, and extremities for
infants and children. - Inherited disorder in which neurofibromas form in cutaneous lesions
- Usually a self-limited dermatologic disorder the skin, CNS, and bones. Complete ophthalmic examination for ocular
consisting of skin lesions on the head, neck, and - Cafe au lait macules + JXG is associated with manifestations
trunk. epilepsy in 20%.
Niemann-Pick disease DIAGNOSTIC TESTS & INTERPRETATION
- Extracutaneous JXG occurs in 4-5%.
-A lysosomal storage disease due to acid Diagnostic Procedures/Other
- May involve the eye, lung, GI tract, bone, and
sphingomyelinase deficiency characterized by Skin biopsy
muscles.
cherry red spot, macular halo, optic atrophy Iris biopsy
Ocular JXG occurs in about 10% of all JXG.
- Systemic manifestations affect the lungs and bone - Fine-needle biopsy
- May involve the iris, eyelid, cornea, conjunctiva,
marrow without mental retardation. - Iridectomy
ciliary body, choroid, episclera, posterior segment,
Urticaria pigmentosa - Iridocyclectomy
or orbit.
- Common form of cutaneous mastocytosis in which Pathological Findings
EPIDEMIOLOGY minor sldn irritation results in massive mast cell In ocular JXG, histology reveals Touton giant cells in a
Incidence release and urticaria background of plasma cells. lymphocytes, and
Frequency is unlcnown. Juvenile myelomonocytic leukemia histiocytes. Touton giant cells are present in 85% of
- Incidence may be higher than reported as lesions - Chronic myeloproliferative disorder affecting cases and appear as a wreath of foamy lipid
may spontaneously regress by 5 years of age. children age 1-4 years old surrounding a ring of nuclei. Histology may also reveal
More common in Caucasians. foam cells and foreign body giant cells. Histiocytes
Single cutaneous lesion occurs in 83-90% of
patients with JXG. ~ DIAGNOSIS stain with antibodies against factor XII Ia, HAM 56,
KP1 (CD 68), HF35, Ki-M1 P, vimentin, CD 163, fascin,
- Median age of presentation with solitary skin and CD 14. Histiocytes do not stain with CD 1a or
lesion is 2 years old. Cutaneous features of JXG include the following: S-100.
- Median age of presentation with multiple sldn - Firm tan-orange papillomacular lesion(s) on the
lesions is 5 months old. head, neck. trunk, or extremities
- Increased predominance in males if multiple skin - Cafe au Iait spots (20%)
lesions present. Ophthalmic features of oculocutaneous and ocular
- 10% of cases occur at birth. JXG include various degrees of the following:
- 85% of cases occur by 1 year of age. - Spontaneous hyphema.
Ocular involvement before age 2 occurs in 92%. - Corneal blood staining.
- Most often unilateral. - Unilateral glaucoma.
- 50% of patients with ocular involvement have -Vascular yellow-brow iris lesion.
skin lesions. - Heterochromia iridis.
- Conjunctival mass.
- Unilateral uveitis.
- Proptosis.
-Cataract.
-Vascular occlusion.
- Retinal detachment.
-Amblyopia.
382
JUVENILE XANTHOGRANULOMA (NEYOXANTHOENDOTliELIOMA)
Leu kern lc Involvement af the Iris ONGOING CARE . CODES
Iris news
Iris melanoma FOLLOW-UP RECOMMENDATIONS ICD9
o Ophthalmologist
L.angerhans cells histiocytosis 272.7 Upidoses
o Primal)' care doctor or dermatologist for periodic
Rhabdomyosarcoma
skin examinations
Fibrous cttsPiasia CLINICAL PEARLS
Dermoid PATIENT EDUCATION
xanthoma The HistiocytOsis Association of America SUspect JXG In spontaneous hyphema, un!lateral
Hemangioma (http:J/www.histio.orgl). glaucoma, or exophthalmos in an infant
Neurofibroma PROGNOSIS Monitor for secondary glaucoma
Molluscum contag iosum o Normal lifespan, development. intelligence, fertility o Look for caff! au lait macules given assodation with
Most cutaneous lesions spontaneous regress epilepsy
. TREATMENT COMPUCATIONS
o Secondal)' glaucoma
ADDITIONAL TREATMENT o Profound vision loss
General Meuutes
Systemic corticosteroids
ADDITIONAL READING
Rare~ immunomodula!DI)' therapy
Rare~ radiation therapy o Shields JA, Shields CL Clinical spectJUm of
Treat spontaneous hypherna with topical cycloplegia hlsUocytlc tumors of the orbit. Trans Pa Acad
and corticosteroids as well as hyphema precautions Oph thaimol Oto/aryngo/1990;42:931-937.
(we;! r eye shield, lceep head upright, no stren ucus o Wertz FD, Zimmerman LE. MciCeown CA. et al.
lifting, minimize anticoagulants) Juvenile xanthogranuloma of the optic nerve, disc.
Topical corUcosterolds and pharmacologic agents to retina, and choroid. Ophthalmology 1982;89:
reduce lntraocular pressure should secondary 1131-1135.
glaucoma develop Zimmerman lf. Ocular lesions of juvenile
Treat amblyopia, which can result from strabismus xanthogranuloma. Am 1 Ophtha/mo/1965;60:
or anisometropia due !D corneal blood staining. 1011-1035.
cataract formation, or secondal)' glaucoma
Local resection
Cataract extraction
383
KAWASAKI DISEASE
Denise A Hug
Acute vasculitis of all blood vessels with the mid-size
arteries being most predominantly affected.
Lab
Initial lab tests
DESCRIPTION - Early phase: Neutrophi I infiltration with edema No diagnostic laboratory test but certain findings
Multisystem acute vasculitis usually involving the and a rapid transition to mononuclear cells are often present
small to mid-size arteries during infancy and early (primarily CDS T-cells, lgA plasma cells, -Anemia (normocytic, normochromic)
childhood. monocytes, and macrophages). - leukocyte count normal to elevated with
Fever for at least 5 days duration plus 4 of the - Second phase: Production of matrix neutrophil shift
5 major criteria metalloproteinase, which destructs the internal -Platelet count initially normal
-bilateral conjunctival injection elastic lamina and media. - Elevated ESR and CRP
- erythema of the lips or oropharynx - Final phase: Replacement of the vessel intima and -Elevated hepatic transaminases
- nonpurulent cervical lymphadenopathy media with fibrous connective tissue (2).
-Pyuria (1)1Bl
- erythema and edema of palms and soles with
ETIOLOGY Follow-up ll special considerations
desquamation
Thought to be triggered by unidentified infection in Rapid elevation of platelets in second week. of illness.
-polymorphous truncal rash (1)
genetically susceptible children.
EPIDEMIOLOGY Imaging
COMMONLY ASSOCIATED CONDITIONS Initial approach
Incidence Coronary artery aneurysm with secondary
Variable depending on race Echocardiogram during acute phase of illness.
thrombosis/ischemia - Coronary artery aneurysm/ectasia may be present
-Asian American and Pacific Island: 32.5 per Arthritis/arthralgia
100,000 children younger than 5 years old. in as many as 25% of children with Kawasaki
Diarrhea, vomiting, abdominal pain disease (3)ICI.
-African American: 16.9 per 100,000 children
younger than 5 years old. Myocarditis Follow-up ll special considerations
-Hispanic American: 11.1 per 100,000 children Anterior uveitis (usually mild) If coronary artery aneurysm is present repeat
younger than 5 years old. Less common conditions echocardiogram is needed until resolved.
- Caucasian American: 9.1 per 100,000 children - Superficial punctuate keratitis For uncomplicated cases, follow-up echocardiogram
younger than 5 years old (2). - Choroiditis should be performed at 2 and 8 weeks after onset
-Papilledema Cardiac stress testing is recommended for children
Prevalence
Approximately 4200 hospitalizations associated with Kawasaki disease and coronary artery
with Kawasak.i disease per year.
- 1.5:1 boy to girl ratio.
~ DIAGNOSIS abnormality.
-Angiography is needed if evidence of cardiac
- 76% of children are < 5 years old. HISTORY ischemia is present.
- More common in winter and early spring. Fever of at least 5 days duration plus 4 of the 5 DIFFERENTIAL DIAGNOSIS
- Peak mortality occurs 1H5 days after onset of major criteria. Scarlet fever
fever (3). - History of recently affected family member may be Toxic shock. syndrome
present. Measles
RISK FACTORS
Genetic susceptibility PHYSICAL EXAM Adenovirus infection
Delayed diagnosis Fever (often 104 For higher) Drug hypersensitivity (Steven-Johnson syndrome)
Prolonged fever is risk. for development of Bilateral bulbar conjunctival injection Epidermolysis bullosa
aneurysmal coronary artery disease. Erythema of oropharyngeal mucosa with strawberry Conjunctivitis
Genetics tongue Collagen vascular disease (e.g., lupus)
Genetic susceptibility: Polymorphism of ITPKC gene Dry, cracked lips without ulceration
(19q13.2) (2) Erythema, desquamation, edema of hands and feet
(may also affect gluteal cleft). Periungual
GENERAL PREVENTION desquamation of the fingers and toes begins
Sequelae of disease are avoided with early diagnosis 1-3 weeks after onset.
and treatment. Truncal rash
Nonsuppurative cervical lymphadenopathy
Other findings may include extreme irritability,
aseptic meningitis, diarrhea, mild hepatitis, hydrops
of gallbladder, pyuria, otitis media, and arthritis.
384
KAWASAKI DISEASE

. TREATMENT Admlss/otJ Crltelfa
1. Perrin L Letierce A. Guitton C, et al. Comparative
Children with at least4 days of fever with suspected
MEDICATION Kawasaki should be admitted for further testing and study of completer wrsus incomplete Kawasaki
RrstLine treatment. disease in 59 pediatric patients. Joint Bone Spine
2009;76:481-485.
Single Infusion of IVIG at 2 g/kg given within IV Fluids 2. Gedalla A. Cuchacovlch R. Systemic vaw.~lltls In
10 days of onset (2,3) [A]. Use as needed particularly if abdominal symptoms. childhood. Cuff Rheumarol Rep 2009; 11:402-409.
- Aspirin at 81>-1 00 mglkg/d given in 4 divided Dischar'!lfl Criteria 3. Newburger PN. Takahashi M. Gerber MA. et al.
doses (2,3) ]C]. Afebrile for 48 hours after initiating treatment. Diagnosis, treatment. and long-temn rna nagement
-Topical steroids for iritis usually not necessary. - Appropriate testing complete. of Kawasaki disease: A statement for health
- Longer hospitalization may be required if professionals from the Committee on Rheumatic
SecondUne significant coronary disease is present. Fever, Endocarditis and Kawasaki Disease, Council
IV prednisolone may play a role in decreasing
duration of disease but no standard dose is on Cardiovascular Disease In the Young, American
recommended (3)[C]. Heart Association. Pediatfrics 2004;114;
ONGOING CARE 1708-1733.
Pentoxifylline has been used as adjunct therapy in
small dlnlcal trials but Its role Is uncertain (3)[C). FOLLOW-UP RECOMMENDATIONS
Ophthalmologic follow-up is needed ooly in ADDITIONAL READING
ADDITlONAL TREATMENT presence of anterior uveitis or more severe ocular
GetJeral Measutes rna nifestations. Yellen ES, Gauvreau K, Takahashi M, et al.
Low-dose aspirin (3-5 mglkgld) is continued until o Systemic follow-up is directed by coronary artery l'elfomnance of 2004 American Heart Association
6-8 weeks after onset of illness if no coronary involvement (3)[C). recommendations of treatment of kawasakl disease.
changes are present (3)[C]. - Cardiovascular risk assessment recommended at Pediatrics 2010;12S:e234-e241.
- Patients not responsive to standard treatment may syear intel\lills for children with no coronary
benefit from repeat IVIG, steroids, or infliximab artery changes.
(3)[C). - Cardiovascular risk assessment recommended at . CODES
Issues for Refel'l'al 3 year intel\lills for children with transient
Infectious disease and rheumatology consultation corona IY artery ectasia. ICD9
may be useful In establishing diagnosis. - Annual cardiology follow-up with edloca rd logram 364.3 Unspecified iridocyditis
-Pediatric cardiologist should be involved in the and electrocardiogram in addition to stress testing
372.71 Hyperemia of conjunctiva
patient's care. every 2 years recommended in children with an
isolated small/medium coronary aneurysm. 446.1 Acute feb~le mucoortaneous lymp/1 node
AddltlotJal Therapies - BiannuaI cardiology follow-up with syndrome (mds)
Antiplatelet agents (dopidogrel, dipyridamole) may
echocardlog ram, electrocardiogram and stress
be considered. testing is recommended for children with large
Anticoagulant therapy (warfarin, heparin) may be coronary artery aneurysms or coronary artery CLINICAL PEARLS
used in patients at risk of thrombus formation. obstruction.
Treatment of acute coronary occlusion secondary to Cardiac evaluation is essential when Kawasaki
thrombus is controversiaI but streptokinase, PATIENT EDUCATION disease is suspected or confimned. Children with
urokinase, and tissue plasminogen activator has Kawasaki Support Ci roup http://www.patient. incomplete Kawasaki disease seem to have a risk of
been reponed (3)[C]. co.uk/support/Kawasaki-Support-Group.htrn coronary artery aneurysm at least as great as that of
Kawasaki Disease Foundation http://www. children who fulfill the classic c~te~a.
Activity restriction guided by anticoagulation
therapy and cardiac stress testing. kdfoundation.orgl Early diagnosis and treatment is key to decreasing
Activity restrictions must be discussed in patients morbidity and mortality.
SURGERY/OTHER PROCEDURES taking anticoagulants as well as in patients with Iritis rarely needs topical intervention and is usually
Carlllac catheterization with stent placement has severe coronary anery d!sease. self-1 imiting and benign.
been useful In spedftc clinical conditions. - Signs and symptoms of ischemic heart disease More severe ophthalmic Involvement Is uncommon.
Coronary bypass graft may be used in children with need be discussed with patient and family.
recurrent myocardiaI infarct.
I
- Rarely, cardiac transplant is justified. PROGNOSIS
Early diagnosis and treatment with IVI<:i and aspirin
reduce coronary artery disease to 2-4% (2)[C).
COMPUCAllONS
Coronary ischemia and arterial thrombosis resulting
in myocardial infarction.
o Sudden death
385
KERATOCONUS
Brad H. Feldman

Floppy lid syndrome/lid laxity (odds ratio > 19) (3).
Slit lamp abnormalities may include the following:
- Iron deposition in basal epithelium around base of
cone (Fleischer ring)
Sleep apnea.
DESCRIPTION Atopy. - Corneal scarring (mild haze to severe opacification
A disorder of corneal instability, thinning, steepening, Allergic conjunctivitis. typically at apex)
and protrusion that develops in the absence of - Irregular corneal thickness and curvature seen
neovascular inflammation. The name derives from the Congenital disorders of low vision, including the
with slit beam
following:
conical shape of the cornea in advanced disease. - Prominent corneal nerves
- Leber's congenital amaurosis, retinopathy of
Clinical disease is characterized by the following: - Posterior stromal striae (Vogt striae) which are
prematurity, and aniridia
Progressive astigmatism myopia. typically central and vertical-these may fade
Congenital disorders of developmental delay (and with external pressure
Loss of best spectacle-corrected visual acuity. eye rubbing), including the following:
Decreased tolerance of contact lens wear. - Corneal edema, bullae, and posterior scars in
- Down's syndrome.
cases of Descemet's membrane rupture (Hydrops)
Central corneal scar formation and opacification. Connective tissue disorders. including the
Manual keratometry: Irregular rings steep
EPIDEMIOLOGY following: readings
- Eh lers-Danlos Marfan's and Osteogenesis
Incidence DIAGNOSTIC TESTS & INTERPRETATION
imperfecta.
Highest in puberty and early adulthood.
Corneal dystrophies, including the following: Imaging
Prevalence - Fuchs' endothelial, posterior polymorphous, Placida-based keratoscopy or topography may
SD-230 per 100,000 (1). granular, and lattice demonstrate some or all of the following (5):
RISK FACTORS - High keratometric values, inferior steepening
Eye rubbing
-A significant risk factor in susceptible individuals ~ DIAGNOSIS (elevated 1-S values). high astigmatism, skewed
radial axes.
Nocturnal pressure on the cornea HISTORY Scanning-slit beam with placida-disc topography
-A suspected risk factor in susceptible individuals Progressive asymmetric vision and contrast (Orbscan liz, Bausch & Lomb) or rotating
1st degree relative with keratoconus sensitivity loss. glare, distortion, or monocular Scheimpflug imaging (Pentacam, Oculus) may
- 3-4% prevalence within families of affected diplopia demonstrate above abnormalities plus
individuals -Anterior and posterior corneal elevation
Progressive asymmetric astigmatism (noticed
abnormalities.
Genetics commonly as distorted vision)
-Abnormal corneal thickness profiles with
No clear inheritance pattern (2). May manifest clinically as unilateral (but >95% decentered thinnest points.
- Some support for incomplete autosomal dominant show bilateral topographic changes).
Optical coherence tomography (Visante, Carl Zeiss)
pattern. Eye rubbing/pressure on eye during the day or may demonstrate abnormal corneal thickness
- Less than full concordance in monozygotic twins. during sleep (4) profiles with decentered thinnest points.
- Many patients directly and forcibly rub the globe
GENERAL PREVENTION Wavefront aberrometry may demonstrate increased
(in a pattern often distinct from allergic rubbing)
Avoidance of corneal rubbing is recommended. higher order aberrations (especially vertical coma).
- May describe a discomfort relieved by rub
- Preferred sleeping side often correlates with more High-frequency ultrasound (Artemis, ArcScan, Inc.)
PATHOPHYSIOLOGY
Progressive instability and irregularity in anterior affected eye. may demonstrate abnormal corneal epithelial
and posterior corneal contours lead to irregular thickness profile.
Difficulty or intolerance of contact lenses
astigmatism. - May describe progression from astigmatism Pathological Findings
Breaks in Bowman's layer result in fibrosis and correcting soft-to-rigid lenses. All corneal layers may be affected in the disease
corneal scarring. process, including the following:
PHYSICAL EXAM - Central epithelial thinning with changes in
Breaks in Descemet's layer lead to acute corneal Fluctuating refraction with increasing astigmatism
edema (hydrops). epithelial cell morphology
and, usually, myopia over time - Degenerated basal epithelial cells with
ETIOLOGY Irregular retinoscopic reflex (scissoring) accumulation of ferritin particles between cells
Not yet fully elucidated. Irregular shadowing of red reflex - Breaks in epithelial layer
External examination abnormalities may include the - Fragmentation of and breaks in Bowman's layer
following: -Alteration of normal stromal collagen architecture
- V-shaped indentation of lower Iid with depression - Endothelial cell pleomorphism and polymegathism
(Munson's sign) Note that pathologic findings may vary
-Conical prominence and/or displacement of apex
on lateral view
- Upper lid laxity upper lid lash misdirection
386
KERATOCONUS

Physlologk astigmatism Intrastromal ring segments Ontacs. Addition
Postrefractive surgery ectasia Technology) 1. Krachmer JH, Feder RS, Belin MW. Keratoconus and
o Pellucid rna rginal degeneration - May improve vision and contact lens tolerance related noninflammatory corneal tllinning
Corneal stromal crosslinking is an investigational disorders. Surv Ophthalma/1984;28: 293-322.
Keratoglobus
therapy that may help decrease progression of vision 2. Wang Y, Rabinowitz VS, Rotter Jl, et al. Genetic
Traumatic comeal scar
loss epldem lologlc study af keratoconus: Evidence for
o Contact lens warpage
Corneal transplantation is the gold standard major gene detenmination. Am 1 Med Genet
- Full-thickness penetrating keratoplasty 2000;93:403-409.
. TREATMENT - Treph inated versus noncylindricaI variations 3. Ezra DG.Beaconsfield M, Sira M, e1 al. The
(manual or Femtnsecond-assisted) Associations of Floppy Eyelid Syndrome: A case
MEDICATION - Deep anterior lamellar keratoplasty control study. O,a/ltha/malogy2010;4:831-838.
For acute hydraps: 4. Carlson AN. Keratoconus. O,a/lthBlmology
-Cycloplegia patching or bandage contact lens 2009;116:2036-2037.
for comfort ONGOING CARE 5. Rabinowitz 'tS. Videokeratographic indices to aid in
- Hypertllnic solution/ointment (5% sodium screening for keratoconus. 1 Rl!fradii!E' Surg
FOLLOW-UP RECOMMENDAnONS
chloride) b.l.d. to q.l.d. At minimum every 12 months, more frequently if 1995;11:371-379.
ADDITIONAL TREATMENT progressing rapidly. 6. Davis u. Schechtman KB, Wilson 85, et al.
Every 1-4 weeks during a hydrops episode until it longitudinal changes in visual aruity in
General M..sures keratoconus. lrrvest Ophthalmal VIs Sd
1mporta nt to stop ru bblng eyes resolves (vision may improve due In corneal
flattening after hydrops, ~ edema persists over 2006;47:489-500.
o Avoid pressure on eyes during sleep
o Spectacle correction if possible months, surgery may be indicated).
Contact lens fitting PROGNOSIS ADDITIONAL READING
- Possible if there is not significant scaiTing or
edema.
Disease severity and rates of progression are widely
variable, but even milder forms of disease may lead a Se1 Alsa {Tapic, Alprilllm, Electronic
- Soft lenses for low levels of regular astigmatism to significant decreases in vision-related quality of ~ Media Element)
- Rigid gas-permeable (RG P) lenses are most often life.
successful. Eh!Yated keratometric values on the sagittal
Significant visual loss over 5-7 year period more curvature mapping.
- If unable to fit in an RG P, try piggybadci ng with likely if better baseline acuity, steeper keratometric
soft lens or use a hybrid or sderallens Decreased corneaI th idcness witll a decentered
values, or fundus abnonmalities (6).
thinnest point on corneal thidcness mapping.
Issues for Refeal COMPLICAnONS Significant anterior comeal elevation over a best-frt
Contact lens fitting is often difficult and is best Corneal perforation is rare. sphere on elevation (front) mapping.
performed by an experienced fitter.
Significant posterior corneal elevation over a best-fit
Patients intnlerant of contact Iens wear should seek sphere on elevation (back) mapping.
consultation with a cornea specialist to consider
surgical options.
Consider polysomnog raphy to test for undiagnosed
sleep apnea. . CODES
ICD9
37t .00 Corneal opacity, unspedf~ed
371 .60 Keratnconus, unspecified
387
lACRIMAL GlAND TUMORS
Genetics
Lymphoma: Largely depends on the type of
lymphoma. T(11;18)(q21;q21) may represent an
DESCRIPTION important developmental event in marginal zone HISTORY
Lacrimal gland tumors include a wide variety of lymphomas, resulting in a gene fusion on Careful history must be taken regarding previous
masses that may be epitllelial or nonepitllelial, chromosome 11 and the development of the MALT1 malignancies, lacrimal gland biopsies, or surgeries.
benign or malignant and primary or metastatic. gene on chromosome 18. Epitllelial and nonepithelial malignancies: Inferior
Historically, ~so% of lacrimal gland lesions were Idiopathic inflammation: Unknown. and nasal globe displacement with proptosis.
epithelial, and 50% benign. It seems that these Sarmidosis: Two genome-wide scans may be biased Lesions are typically painless, although pain may be
numbers were subject to referral bias to tertiary care by population selection: seen with bony erosion or perineural involvement
institutions. Rarer, interesting, and/or malignant -White Genmans- chromosomes 3p and 6p (typical of adenoid cystic carcinoma). Ptosis, motility
lesions may be more likely to be reported. Further, -African Americans - chromosomes Sp and Sq. distl.irbances, and diplopia may occur with lacrimal
reviews of these subjects reveal til at some cases gland malignancies.
reported individually were also included in series. GENERAL PREVENTION Benign epithelial tumors: Typically a long history of
Current guidelines show the following (1): Depends on the etiology of orbital tumor. but largely pain less proptosis globe displacement.
- 10% of orbital lesions are in the lacrimal gland. unknown in most cases. S-shaped proptosis seen in orbital lobe
- 20% are epithelial, and 80% are nonepithelial. PATHOPHYSIOLOGY involvement.
- Of nonepitllelial cases, idiopathic orbital Varies widely based on tumor etiology. See the 101: Explosive onset of pain and swelling
inflammation seems most com man, followed by "Pathological findings section for histologic detail of predominantly in the outer one-tllird of the upper
non-Hodgkin's B-celllymphoma. tumor entity. eyelid. Tearing, injection, diplopia, and decreased
-Of epithelial cases, 55% are benign while 45% vision. If previous episodes exist rapid response to
are malignant. ETIOLOGY corticosteroids is the norm.
- Of benign epithelial tumors, dacryops (ductal cyst Epithelial lesions (in order of decreasing incidence in
Infectious: May appear similar to 101, which exists
of the palpebral lobe) seems most common (37%). patients warranting referral to an ophthalmic
along a spectrum of inflammation with scleritis, but
- Of malignant epitllelial tumors, adenoid cystic oncology service): with purulent discharge in bacterial cases or
carcinoma is most mmmon (~60%). - Dacryops, adenoid cystic carcinoma, pleomorphic
frequent bilateral involvement with preauricular
-Thus, this chapter focuses on inflammatory, adenoma, pleomorphic adenocarcinoma,
nodal involvement with viral etiologies. Fevers, chills,
benign epitllelial, and adenoid cystic etiologies prolapsed lacrimal gland, mucoepidermoid
sweats, and otller systemic symptoms should be
with greatest detail. carcinoma
screened for but are nonspecific.
Nonepitheliallesions (in order of decreasing Sarcoidosis: Systemic symptoms such as fevers,
EPIDEMIOLOGY incidence in patients warranting referral to an
Varies widely based on rumor etiology chills, sweats, and weight loss. Adnexal involvement
ophthalmic oncology servioe):
marked by pain, proptosis, and lacrimal gland
Adenoid cystic carcinoma: Mean age at presentation -Dacryoadenitis (pseudotumor). non-Hodgkin's
enlargement. Sarcoidosis most mmmonly affects the
is 40 years, with recognized cases historically lymphoma, benign reactive lymphoid hyperplasia, lungs, eyes, and skin, so history may be tailored
presenting in the first two decades as well. Can atypical lymphoid hyperplasia, plasmacytoma, toward a targeted review of systems accordingly.
occur in any age. lymphoepitllelial hyperplasia
Dacryops: Common (6%), usually in young or Sarmidosis: See previous epidemiology PHYSICAL EXAM
middle-aged patients, and rarely symptomatic (only Leukemia, metastases, denmoids. lipomas. Physical exam should be a thorough ophthalmologic
around 21% in reported series require excision). Wegener's granulomatosis, and plasmacytomas evaluation with consideration of all aforementioned
Orbital lymphoma/reactive lymphoproliferative Infectious: tuberculosis, syphilis, and mumps potential etiologies.
processes: Equal incidence of males and females, A recent review of patients with lacrimal gland Visual acuity, intraocular pressure, visual fields, and
witll age range including all ages. mean age enlargement referred to the Wills Eye Institute extraocular motility should be evaluated in all
55 years. Oculoplastics and Orbital Surgery servioe shows that patients.
Idiopathic orbital inflammation (101): Wide age 43% of lacrimal gland lesions were All cranial nerves should be evaluated, and the
range, from teens to 70s in many series, with a mean nongranulomatous inflammation, 20% were presence or absence of ptosis should be
age of 45 years and an even gender distribution. sarcoidosis, 10% were reactive lymphoid documented.
Sarcoidosis: Can occur in any age, but most common hyperplasia, 6% were lymphoma, and 5% were Optic nerve involvement and infiltration should be
between 20 and 40 years, and rare after 50 years. atypical lymphoid hyperplasia. evaluated with visual fields, mlor plates, and
-Within the orbit, the lacrimal gland is most pupillary examination.
COMMONLY ASSOCIATED CONDITIONS Anterior slit lamp exam includes evaluation of
commonly involved (up to 61 %).
Salmon patch: Pink subconjunctival lesion may mnjunctival nodules, conjunctivitis, episcleritis,
- In North America, highest incidence amongst
represent extension of orbital lymphoma. scleritis, dry eyes, corneal edema, keratic precipitates
African Americans: 35.5 cases per 100,000
- In the world, highest incidence amongst Northern Sjogren's syndrome: May precede lacrimal gland (may be granulomatous, particularly in a triangular
Europeans: up to 60 cases per 100,000 lymphoma or be associated with sarcoidosis distribution on the inferior corneal endothelium),
infiltration of the lacrimal gland, parotid, and anterior chamber oell and flare. peripheral anterior
RISK FACTORS conjunctiva synechiae, and posterior synechiae given differential
Malignant epitlleliallesions: Incomplete resection of Lofgren's syndrome: Arthritis, erytllema nodosum, diagnosis including sarmidosis and blood dyscrasias.
prior lesion. whether benign or malignant and bilateral hilar adenopathy with sarcoidosis Posterior slit lamp and indirect exam should
Lymphoma: Sjogren's syndrome predisposes to Arthritis: Rheumatoid or juvenile rheumatoid with evaluate for peripheral retinal neovascularization,
orbital adnexal lymphoma. sarcoidosis periphlebitis and peripheral retinal vein sheathing,
Idiopathic inflammation: Viral and environmental Heerfordt syndrome: Parotid enlargement, anterior intermediate uveitis. and optic nerve edema.
factors are proposed triggers. uveitis, and cranial nerve palsies witll sarcoidosis. Full physical exam should evaluate for tachypnea,
Sarmidosis: Environmental triggers such as Blau's syndrome (familial juvenile systemic arthritis, lymphadenopathy, hepatosplenomegaly,
pesticides and pollutants have been postulated but granulomatosis): Children may present with erythema nodosum (most commonly found over
are largely theoretical. granulomatous arthritis, skin and eye pathology shins), and skin rashes.
with sarcoidosis. - Imaging and further evaluation as below.
388
LACRIMAL GLAND TUMORS
DIAGNOSnC TESTS & INTERPRETAnON Pathological Findings Admission Crltlwla

Lab Adenoid cystic cardnoma: Solid cords of Compressive, inflammatory, or vascular optic
Angiotensin convening enzyme (ACE): Elevated In bland-appearing malignant eplthellal cells with neuropatl11es may warrant Intravenous corticosteroids.
60-90% of patients with active sarcoidosis. Rates well-defined borders of five subtypes, including orbital decompression, or other Intervention
highl!l' in those with active signs and symplllms basaloid, cribriform, sclerosing. tubular, and necessitating admission and urgent managl!l'nent.
comedocardnoma
CBC with differentiaI and serum protein
eli!Cirophoresis if rna Iignancies suspECted. Blood
smear to further pursue etiology.
PPD with anergy panel to evaluate tuberculosis, and
Benign epithelial neoplasms: Myoepithelial cells are
present In adjacent tissue, as opposed to adenoid
cystic cardnoma, which has dearly defined borders.
$ ONGOING CARE
to rule it out if steroid tl1erapy anticipated. Sarcoidosis: Noncaseating granulomas, or Epitl1elial and nonepithelial malignancies must be
Antineutrophil cytoplasmic antibody (cANCA), ANA. congregations of epithelioid cells and macrophages, followed as per recommendations by the
RPR, FTA-Abs to evaluate for autoimmune and with negative 5p@Cial stains as above hematologyloncology subspecial ist for appropriate
infectious causes as history and exam warrant. 101: Cellular infiltrate consisting of mature management.
lymphoc.ytes, plasma cells, neutrophlls, eoslnophlls, Inflammatory (Onditions: Follow-up intervals depend
Imaging macrophage.s. and occasionally histiocytes with
Initial approad! on severity of inflammation, and patients are usually
stromal and vascular changes. fibrosis. and tissue followed every t-7 days. Steroid doses, whether
0rbita I CT witl1 axiaI and coronal views. Look at the edema
laalmal gland fossa (superotemporal orbit) for the topical or oral, are adjusted according to response
presence of any bony erosion. DIFFERENTIAL DIAGNOSIS to treatment, and are tapered as dinical progress
MRI if suspidon of intracranial extension See edologles. allows.
Chest X-ray to evaluate for sarcoidosis. tuberrulosis. Prolapsed retr~rorbital fat in the anterior, Patient Monitoring
primary malignancy, or metastases superotemporaI quadrant may simulate lacrimal lOP and cataract development should be followed in
Chest CT If ln!Uallmaglng nondlagnostlc gland enlargement. patients treated with steroids.
Follow-up &: special Qlnsiderations Pl!rilacrimal gland tumors not involving the gland Patients treated with oral steroids should be seen by
itself may simulate lacrimal gland masses. their primary care physidans every 3-6 weeks for
Systemic ewluation and full medical examination
should be performed by an Internist as etiology or general exams and blood work to evaluate blood
suspected etiology demands. pressures and blood sugars, for example.
. TREATMENT
Hematology/oncology ewluation when malignancy, PROGNOSIS
botl1 epithelial and nonepithelial, is diagnosed or Adenoid cystic cardnoma and other epitheliaI varies greatly based on the etiology of lac~mal
suspected. rna lignancies: Orbital exentelillion is usually gland mass
Systemic or neurologic involvement should involve indicated, particularly in adenoid cystic carcinoma. Within epitl1eliallesions. adenoid cystic carcinoma
Internal medldne, pulmonology, rheumatolo!Ji, Neoadjuvant intracarotid chemotherapy or systemic carries worse prognosis than other lesions..
and/or neurologic referral as primary etiology calls d1emotherapy may improve prognosis, and Benign lesions completely excised usually do not
for. Further ewluation and treatment. as below, is postexenteration orbital irradiation (55-60 Gy) has recur.
often performed in conjunction with healthcare been recommended, although long-term follow-up 101 and sarcoidosis often promptly respond to
practitioners in tl1ose fields. data are not available. steroids. but may recur.
Diilgnostk Procedunn/Other Daayopslbenign epithelial tumors: Complete
Note: Do not biopsy lesions suspected to be exdsion
dermoids! Ruptured dl!l'moids may cause dlilmatk lymphoid tumors: InIt!aI biopsy with local radiation REFERENCE
inflammatory reactions. and cortitoSteroids in indolent cases if confined to 1. Shields JA. et al. Primary epithelial malignancies of
Note: Do not biopsy or incompletely excise benign the orbit chemotherapy with subsequent irradiation t11e lacrimal gland: The 2003 Ramon L. Font
mixed tumorsI Incomplete excision may resu It in for systemic involvement Lecture. Ophtha/ Plast Reronstr Surg 2004;
orbital seedIng and recurrence with our without Sarcoidosis: Systemic immunosuppression witl1 20(1):1G-21.
malignant transformation. corth:osterolds InIt!ally followed by steroid-sparing
Lacrimal gland bio]l5y is considered if lesions are agents; however, higi'Klose NSAIDs standard of care
accessible. diagnosis is uncertain, and malignancy is in the UK.. Systemic immunomodulators if steroids ADDI110NAL READING
suspected. The orbital lobe of the lacrimal gland is fail or are poorly tolerated. SurgicaI debulking or
the prefe!Ted s!te of biopsy, In order to preserve radiation therapy. Ehlers JP, Shah CP. The wills eye manual, 5th ed.
lacrimal ductules In t11e palpebral lobe. - Majority of sarcoidosis regresses spontaneously, Lippincott Williams & Wilkins, 2008.
Typical granulomas need evaluation with special but observation not recommended. Shields JA, Shields CL, Scartozzi R. Survey of 1264
stains (metl1enami ne-silver to rule out tuberculosis 101: Oral prednisone SG-1 00 mg daily with GI patients with orbitaI rumors and simulating lesions:
and fungal infections. and acid-fast to look for prophylaxis usually induces prompt response. The 2002 Montgomery Lecture, part 1.
mycobacteria). In sarcoidosis. lacrimal gland biopsy low-dose radiation may he used in nonresponders. Ophthalmology 2004;111 (5):997-I 008.
I
has a 60% yield. Treatment refractory cases are atypical may warrant
Conjunctiva may be biopsied in sarcoidosis suspectS: evaluation for other causes of laaimal gland
Yield of blind conjunctivaI biopsy is 66% in inflammation. . CODES
sarcoidosis patients. and 80% in tl1ose with ADDmONAL TREATMENT
conju nc:tival involvement ICD9
Issues for Refer/ill
Skin lesions may be biopsied in sarcoidosis: The Neurology and neuro-ophthalmic consultation to
190.2 Ma llgnant neoplasm of lacr1maI gl<md
edges of lesions should be sampled. Erythema evaIuate for central neurologic Involvement 198.4 Secondary malignant neoplasm of other pans
nodosum does not contain pathologic changes. of nervous system
~mlc or ot11er organ Involvement warrants
Whole-body gallium scan, when combined with referra I for evaluation and rna nagemem as stated 224.2 Benign neoplasm of lacrimal gland
positive ACE, is up to 73% sensitive and 100% previously.
specific for sarcoidosis.
Bronchoscopy with pulmonary biopsy may be IN-PATIENT CONSIDERAnONS
performed with consideration from a pulmonologlst As above, 10I not respond! ng promptly to
and/or cardiothoracic surgeon in cases with corticosteroids should prompt ewluatlon, lndudlng
pulmonary involvement by tl1e primary etiology. biopsy, for other etiologies of lacrimal gland
Other distant organ system involvement. either inflammationlenlargement.
metastatic or primary, warrants diagnostic Lacrimal gland malignandes warrant internal
ewluatlon by t11e appropriate subspedallst medicine/oncology subspeciaIist ewluation for
metastatic work-up.
389
lAGOPHTHALMOS & LID RETRACTION
Vladimir Yakopson
Jacqueline Carrasco
~ BASICS
ETIOLOGY Hertel Exophthalmometry (measures proptosis)
Depends on the following conditions: Anterior segment exam, with careful attention to
Autoimmune (e.g., TED, OCP) corneal surface, presence of superficial punctate
DESCRIPTION Inflammatory (e.g., post op, trachoma, leprosy) keratopathy (SPK), corneal erosions or scarring,
Lagophthalmos = incomplete lid closure areas of iris atrophy, presence of active uveitis
Neurogenic (e.g., CNVII palsy)
Lid retraction = presence of scleral shown above Funduscopy (presence of choroidal folds, optic nerve
Mechanical (e.g., shallow orbits, lower lid tumor,
the superior or below the inferior limbus, with eyes swelling may indicate the presence of a retrobulbar
anterior lamella scarring)
in primary gaze, brows relaxed, and head in normal mass)
posture Involutional/senile (e.g., ectropion)
DIAGNOSTIC TESTS lr INTERPRETATION
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS
TED Lab
lnddence TSH, T3, free T4, thyroid stimulating immunoglobulin
Depends on etiology Facial palsy
Ectropion Conjunctival biopsy in cases of suspected OCP
Lid retraction is the most common sign of thyroid
eye disease (TED). Postsurgical state Imaging
CT/M Rl of orbits as indicated, e.g., to evaluate for
~ DIAGNOSIS
RISK FACTORS the presence of extraocular muscle enlargement
Depend on etiology (TED) or mass
Geneffa MRVMRA of brain/brainstem as indicated during
Lid retraction -sclera is visible above and/or below work-up of CNVII palsy
N/A, depends on etiology
the limbus in primary {straight ahead) gaze with
GENERAL PREVENTION brows relaxed. Diagnostic Procedures/Other
Prevention of postoperative lid retraction and Lagophthalmos -incomplete lid closure; patient is Visual field testing (may have various defects in
lagophthalmos involves judicious removal of skin in asked to close eyes normally (not squeezing cases of optic neuropathy due to orbital mass or
blepharoplasty, reformation of the lateral canthal maximally) and checked for the presence of a gap TED)
tendon if a canthotomy and cantholysis has been between eyelids. External photography (document current lid
performed, possible placement of traction sutures to position, may compare to old family photos to assess
prevent contracture, severing of fascial attachments of HISTORY for change vs. normal variant as in shallow orbits)
inferior rectus (I R) during recession surgery. Inquire about Color plate deficiencies {decreased color perception
timing of onset may be an indicator of optic neuropathy)
PATHOPHYSIOLOGY tearing, irritation, foreign body sensation, pain
Lagophthalmos: Pathological Findings
periorbital ache Depend on underlying etiology
- Reduced ability of lids to cover the entire globe
may be due to several possibilities: pain with eye movement TED: Focal and diffuse mononuclear cell infiltrates
o Globe is proptotic, e.g., TED, retrobulbar mass diplopia within EOMs and orbital fat in active disease,
or hemorrhage; nonmal variant in patients with change in vision fibrotic changes in inactive disease
shallow orbits history of prior eyelid or facial surgery or trauma OCP: Deposition of lgG, lgA, C3, C4 in conjunctival
o Scarring of anterior lamella (skin and history of herpes zoster or simplex infection on membrane
orbicularis), e.g., post op, post herpes zoster, face/neck
post trauma DIFFERENTIAL DIAGNOSIS
history of chronic ophthalmic medication use Depends on etiology (see the Etiology section):
o Loss of anterior lamella, e.g., post tumor (possible cause of pseudo-OCP)
excision, post aggressive blepharoplasty - DDx of proptosis (TED, tumor, shallow orbits, etc.)
history of chemical burn to eyesllidstfacial skin - DDx of anterior and posterior lamella scarring
o Posterior lamella (conjunctiva and tarsus)
scarring limiting lid excursion, e.g., ocular PHYSICAL EXAM - DDx of CNVII palsy
cicatricial pemphigoid (OC P), chemical burn, Lid position lower lids may appear falsely retracted in patients
trachoma Lid closure with chronic neck flexion forcing chronic chin down
o Neurogenic: Facial nerve (CNVII) palsy or Examine tarsal conjunctiva for evidence of scarring head posture and resulting in chronic upgaze.
weakness. Orbicularis oculi muscle is responsible Check for the presence of symblepharon formation
for eyelid closure and is innervated by CNV II. Visual acuity
Lid retraction: Pupillary reaction (check for rAPD)
- Sclera is visible above or below the limbus due to Ocular motility
eyelid malposition.
Ocular alignment
- Differential as above; however, the abnormality
(lid retraction) is present at rest, in primary gaze. Presence of other external signs (e.g., facial scarring,
facial nerve palsy/weakness)
Lower eyelid retraction may co-occur with severe
ectropion.
390
LAGDPHTliAlMDS &LID RETRACTION
- UppEf l!)'l!lids: ADDI110NAL READING

. TREATMENT o Transcutaneous or transconjuncdval approaches
may be utilized. Upper eyelid retractors (Muller's Abenavoll FM, De Grego~o A. CorelII R. Upper eye
ADDITIONAL TREATMENT muscle and/or levator palpebrae) are OJt lid loading with autologous cartilage in paralytic
General Measures (recessed). lagophthalmos. Plast Reronstr S11rg 2006;117m:
If asymptomatic and ltle cornea is well Iubricall!d, o Gold or platinum weight placement into the 2511-2512.
the patient may be observed. upper eyelid is used to improve lid closure. Garg RK. Unusually thidcened ulnar nerve and
Boltllid retraction and lagophltlalmos may result in o Eye sp~ngs may be used. lagophthalmos in leprosy. Am J Trop Med Hyg
corneaI exposure with symptoms and signs of ocular - Lower eyelids: 201 0;82(5):758.
irrillrlion (p.ain, foreign body sensation, gritty/sandy o Lower lid retractors may be recessed. Golia D, De Marll!laere 5, Anderson J, Esmaeli B.
sensation, redness. excessive ll!aring, photophobia. o Spacer graft (AIIoDemn, buccal mucosa, banked Outmmes of periocular reconstruction for fadal
etc.). sdera. etc.) may be used to replace posterior nerve para lysis in cancer p.atients. Plast Reronstr
lamella and to eleva!I! the hiWer lid. Surg 2007; 119(4):1233-1237.
Treatment is directed at alleviating the above o Lower lids may be tighll!ned (lall!ral
symptoms. Hassan AS, Frueh BR, EIner VM. MOllerectomy for
canthoplasty). upper eyelid retraction and lagoplnhaImos due to
Initial measures indude frequent Iubrication with o Mini-tendon grafting may be perfomned.
artificial tears. use of artificial tear gels or ointments facial nerve palsy. Arch Ophlhalmo/ 2005;123(9):
at bedtime to protect the corneal surface. 1221-1225.
Liao SL, Shih MJ, Lin LL. A procedure to minimize
Eyelids may be taped dosed at night. ONGOING CARE lower lid retraction during large inferior rectus
AvoidIng excessively dry environ mems Is
FOLLOW-UP RECOMMENDATIONS recession In graves oplnhalmopathy. Am J
recommended (e.g., if fans are used in ltle bedroom,
o Primary care provider and/or endocrinologist Ophfha/mo/ 2006;141(2):340-345.
they should be pointed away from ltle patient; use
of humidifiers is considered, elL). involved if thyroid disease is suspected.
o Opl1thalmologlst with subspecialty Involvement of
Concurrent conditions such as blepha~tls ar ocular
allergies are treated appropriately. an otuloplastic surgeon can manage eye . CODES
complications and surgery.
Underlying conditions (e.g., ltD, OCP) treated as
o Others may include neurology, ENT, or neurosurgery ICD9
appropriate.
in cases of CNVII palsy. 374. 20 Lagophthalmos, unspedfled
SURGERY/OTHER PROCEDURES 374. 22 Medla nicaI lagophthalmos
l'atient Monitoring
If no relief with supportive treatments. surgery may Frequency depends on severity of corneaI disease: 374.41 Ud retraction or lag
be Indicated.
Daily or possible inpatient admission in cases of
In cases of CNVIIInvclvement need for surgery Is corneal ulCErs to yearly if mild or stable.
deremnined by prognosis for CNVII recovery. If no CLINICAL PEARLS
recovery is expected, the upper eyelid retraction, PATIENT EDUCAnON
lagophthalmos. and p.aralytic ectropion should be Patients are Informed about the status of their cornea Lid retraction is most common sign of TED.
.surgically addressed. and/or underlying condition and advised as to the Severe corneal exposure can lead to visual loss.
Eyelid .surgery: recommended treatment and prognosis. Simple measures such as use of over-the-counll!r
- Approach depends on the under1ying condition PROGNOSIS anlflclaltears and gels may be the extent of
(e.g., in postoperative IDWI!I' lid retraction due to Depends on underlying etiology and extent of corneal required treatment.
aggressive blepharoplasty a skin graft may be exposure. Ranges from severe vlsuaI loss and possible Head posture should be assessed as it can affect
required whereas in the case of paralytic ectropion loss of the eye in cases of severe nonhealing or gaze position and apparent lid position.
secondary to CNVII palsy the IDWI!I' lid may need perforall!d corneal uleers to mild or asymptomatic
to be horizontally shortened and tightened}. cases whidl require supportive care and monitoring
- Goal is to restore eyelid dosure.. coverage during only.
blinlc, reduce symptarns of exposure.
- Secondary goal is to improve cosmesis, restoring a COMPUCAllONS
more nomnaI appearance. Visual loss
- Tern porary or pemnanent tarsormaph les (parts of Disiigurement
the upper and lower lid are sutured together) may
be placed.
- In cases of anterior lamella deficit. a slcin g!lift
may be required.
391
lATTICE CORNEAL DYSTROPHY
Brandon D. Ayres

Family history of LCD. Spontaneous mutation in the
TGFPI gene can lead to the dystrophy in the
~ DIAGNOSIS
DESCRIPTION absence of a family history. HISTORY
Two major categories of lattice corneal dystrophy Family history of systemic amyloidosis is a risk factor Younger patients will complain of spontaneous
are described by the International Committee for for LCD 11. Spontaneous mutation in the Gelsolin foreign body sensation.
Classification of Corneal Dystrophies (IC3D) (1). (9q34) is responsible for sporadic cases. Tearing and photophobia will occur in one or both
A dystrophy is a process that is noninflammatory eyes.
Genetia Erosions in the visual axis will reduce vision.
and bilateral. LCD I is linked to the transforming growth
Lattice corneal dystrophy type I (LCD I) is typically an factor-p-induced (TGFpl) gene on chromosome Older patients will additionally experience a
autosomal dominant corneal dystrophy that leads to 5q31 as are many other corneal stromal dystrophies. reduction in best corrected vision.
frequent recurrent corneal erosions and can This gene was once called the BIGH3 gene. PHYSICAL EXAM
progress to severe visual impairment. LCD II is linked to the gelsolin gene 9q34. In early disease the slit lamp exam of the cornea
The onset of symptoms is in the first decade of life, may show subepithelial faint opacities usually close
with visual impairment often by the fourth decade. GENERAL PREVENTION
to the apex of the cornea.
With this dystrophy protein (amyloid) deposits in the Genetic screening
With time the opacities form branching lattice lines
corneal stroma creating refractile branching lines the PATHOPHYSIOLOGY that migrate peripherally and deeper into the cornea.
resemble lattice work. In LCD I, the branching lines Accumulation of amyloid protein in the corneal Repeated corneal epithelial erosions will eventually
do not reach the corneal limbus. stroma leads to branching refractile lines. When cause scar formation in the anterior cornea.
Synonyms of LCD I include classic LCD and these deposits of amyloid are close to the surface of Corneal sensation is often reduced which made
Biber-Haab-Dimmer dystrophy. the corneal erosions of corneal epithelium can occur. reduce healing time.
Lattice corneal dystrophy type II (LCD II) has similar Corneal epithelial erosions lead to pain, light In LCD II, the lattice lines may start at the periphery
corneal changes but the lattice lines start sensitivity, and in some cases reduced vision. and move centrally over time, and they are more
peripherally and move centrally. Multiple recurrences of epithelial erosions will lead likely to include the periphery.
Onset of symptoms is typically in third to fourth to scar formation on the corneal leading to a decline Recurrent erosions are less likely in LCD II, but
decade of life in best corrected vision. neurotrophic epithelial defects are often a problem.
Often LCD II is associated with systemic amyloidosis ETIOLOGY
and can be associated with central and peripheral DIAGNOSTIC TESTS & INTERPRETATION
Genetic mutation in either the TGFPI or Gelsolin gene.
neuropathy, carpal tunnel syndrome, autonomic Multiple mutations have been documented in the
disturbances, and cardiac arrhythmia Diagnosis is based on physical exam.
FAS 1domain ofthe TGFPI gene, all leading to the
Synonyms of LCD II include Meretoja syndrome, phenotype of LCD. Pathological Findings
Amyloidosis V, Familial amyloidotic polyneuropathy Pathology will show deposits in the cornea of
IV, Familial amyloidosis, Finnish. COMMONLY ASSOCIATED CONDITIONS amyloid protein.
Autosomal recessive variants of LCD are known, but LCD I has no commonly associated conditions.
Amyloid protein will stain with congo red stain.
are very rare. Most patients with have Japanese LCD II is part of a systemic amyloidosis and can be
Amyloid protein will also show apple green
ancestry. associated with any or all of the following:
birefringence with polarized light.
- Cranial neuropathy leading to facial drooping and
EPIDEMIOLOGY corneal anesthesia DIFFERENTIAL DIAGNOSIS
LCD is the most common of the stromal corneal - Peripheral neuropathy Recurrent corneal erosion
dystrophies but is still relatively rare. -Autonomic dysfunctions such as postural Amyloid corneal degeneration
orthostatic tachycardia syndrome, vasovagal Granular dystrophy
syncope, and neurally mediated hypotension Macular dystrophy
392
LATTICE CORNEAL DYSTROPHY
o More significant superficial scars can be treated with Longevity of life is normal in these patients.
. TREATMENT phototherapeutlc keratectomy (PTK) (2). Patients with LCD II are less likely to need corneal
o Deeper sears require treatment by full or panlal surgery, but much more likely to suffer from health
MEDICATION thickness corneaI transplantation. problems related to systemic amyloidosis.
RrstLine o Watch for slower epithelial healing in patients with
COMPLICA.110N5
Treatment of the recurrent erosiom with: LCD (3). Infectious kEratitis can be seen with corneal
-Topical antibiotics, usually a fluoroqulnolone LCD wiiii!Vf!lltually rl!lum in the transplanted epithelial erosions and from chronic steroid use.
-Hypertonic saline drops/ointment cornea. Recurrence of lattice dystrophy In the transplanted
- Frequent lubricating drops
IN-PATIENT CONSIDERAnONS comealls common.
- Cyclopedias to reduce photophobia
Initial Stabilization Steroid-induced glaucoma is observed in transplant
SKOIId Une Inpatient admission for LCD is very unusual unless it is patients.
Epithelial debridement can accelerate the healing of for systemit complications of familial amyloidosis. Corneal transplant rejection.
an epithelial erosion.
Bandage contact lenses are helpfuI in reducing the
pain of an erosion and may speed healing. $ ONGOING CARE REFERENCES
Antibiotic proph~axis is a must in these cases with
close follow-up. FOLLOW-UP RECOMMENDATIONS 1. Weiss JS, et al. The IC3D classification of the
Regular follow-up with a comprehensive corneal dystrophies. Cotr~H 2008;27:51-S42.
ADDITlONAL TREATMENT ophthalmologist or mmea specialist is 2. Ayres BD, Rapuaon CJ. Excimer laser
GetJeral Measutes recommended. phototherapeutic keratectomy. Oa.Nar Sutfm
Routine health care is a must. o Frequency crl follow-up will depend on sevl!lily crl 2006;4(4):196-206.
Commu nicalion with primary care provider is corneal tha nges. 3. Foerster CG, Langenbuther A. Cu rsliefen C, et aI.
essentlaI especially In cases of LCD II. If patients have had a corneal transplant. regular Delayed epithelial heaIing after keratoplasty for
Reassurance of the patient that while no cure Is follow-up is needed to ensure transplant success lattice corneal dystrophy. Cornea 2007;26:
available, excellent treatments are available. and watd1 for recurrence of dystrophy. 1182-1183.
Issues for Rafarral Patient MonlfDrlng
Referral to a cornealfexternal disease specialist may Any patient who is on topical steroids long time after
be Indicated once erosions become problematic or corneal transplant must be monitored lor . CODES
best-correct!d vision becomes reduced. steroid-related mmplications sud1 as cataract
Frequency of follow-up will depend on severity of progression and elevation in eye pressure. lCDI
symptoms and corneal d1anges. 371.54 Lattice mmeal dystrophy
PATIENT EDUCAnON
SURGERY/OTHER PROCEDURES Patient education is essential.
Reduced best-corrected vision from LCD is usually WNW.tornealdystrophyfoundatlon.org
due to progressive scar formation and Irregularity In
thecomea. PROGNOSIS
Patients with LCD I are very IikEiy to need corneal
In early stages. erosions and mild scars can be surgery by the founh decade. With prop!!r follow-up
treated with superficial keratectomy and diamond
and management the prognosis for good vision is
burr debridement.
excellent.
393
lATTICE DEGENERATION
Brett J. Rosenblatt
Cobblestone degeneration
Peripheral retinoschisis
DESCRIPTION HISTORY
Microcystic degeneration
Lattice degeneration is a common vitreoretinal Symptoms of vitreous or retinal detachment such as
flashes or floaters Chorioretinal scar
degeneration associated with retinal thinning, and
subsequent retinal tears or detachments. History of retinal tears or detachments in the fellow Previous laser treatment
eye Chronic retinal detachment
EPIDEMIOLOGY Hereditary vitreoretinal degenerations such as
Family history of retinal tears or detachment
Prevalence Stickler's syndrome
History of myopia (patients may have had laser
Found in 6-1 0% ofthe population - Stickler's syndrome is characterized by midface
vision correction or cataract surgery, and should be
More common in myopic eyes specifically asked) hypoplasia and small chin; bifid uvula or cleft
Found in 20% of eyes with retinal detachments palate; cataract; lattice degeneration; and a high
(1)[C] PHYSICAL EXAM risk of retinal detachment. It is caused by
Careful inspection of vitreous for signs of dispersed mutations in COL2A1 or in COL11A1 (2,3)[C]
rJ
RISK FACTORS pigment (indicating tear or detachment)
Myopia Presence of posterior vitreous scleral detachment
Family history Peripheral retinal exam including depression TREATMENT
Systemic disorders such as Stickler's and Wagner's ophthalmoscopy reveals varied appearance of lattice
syndromes ADDITIONAL TREATMENT
degeneration:
- Usually there are linear. pigmented lesions. General Measures
GENERAL PREVENTION If no symptoms or tears, then treatment is not
None anterior to the equator that parallel the ora
serrata. indicated even if atrophic holes are present (4,5)[C].
PATHOPHYSIOLOGY -Variable retinal thinning Consider treating the asymptomatic eye if the fellow
Inner retinal atrophy with overlying pockets of - Sclerotic vessels or white atrophic spots eye has had retinal tears or detachment.
liquefied vitreous with adherence of formed vitreous -Atrophic retinal holes or branching white lines If symptomatic (flashes and/or floaters), consider
to the borders of the areas of lattice degeneration may be present within the patches of lattice offering laser demarcation.
EnOLOGY degeneration. Treat retinal tears with laser or cryoretinopexy.
Unknown, but there is likely a genetic predisposition. Retinal detachments should be treated in a standard
fashion.
Axial myopia
Atrophic holes
Chorioretinal atrophy
Stickler's or Wagner's syndrome
394
LATTICE DEGENERATION
REFERENCES
1. Benson WE, Morse PH. The prognosis of retinal
FOU.OW-UP RECOMMENDA110NS detachment due to lattice degeneration. Ann ICD9
Recommended follow-up depends on the extent of Ophtha/mol 1978;10:1197-1200. [C[ 362.63 Lattice degeneration of retina
lattice, symptnrns. and presence of tears or retinal 2. Edwards AO. Clinical features of the congenital
detachments.
367. 1 Myopia
Yitreoretinopathies. Eye 2008;22:1233-1242. [C)
Patients with high myopia and patients with a 3. Ang A. Poulson AV, Goodburn SF, e1 al. Retinal
history of retinal detad1ment in the fellow eye detachment and prophylaxis in type 1 Stickler CLINICAL PEARLS
should be Wi!k:hed dosely. syndrome. Ophthalmology 2008;115:164-168. [C)
PA11ENT EDUCATION 4. Byer NE. Long-term natural history of lattice Lattice is commonly found in asymptomatic patients.
Symptoms of retinal tears should be explained. If new degeneration of the retina. O{iltha/mo/ogy Risk of detachment is small.
flashes, floaters, or scotoma develop, prompt 198!1;96:1396-1402. [C] Prompt treatment of retinalll!ars or detachments is
eva luatlon Is crltlcal. 5. WiIkinson CP. Evidence-based ana lysis of necessary to prevent loss of vision.
prophylactic treatment of asymptomatic retinal Patients wtth Stickler's syndrome should have
PROGNOSIS breaks and lattice degeneration. O{ilthalmology prophylactic laser retinopexy.
Rlr patients with lattice degeneration, the risk of 2000;107(1): 12-15; discussion 15-18. [CI
retinal detachment is only t% over a 1()-year period.
Prognosis is excellent unless retinal detachment
develops.
Delay in treatment of retinal detad1ment can lead tv
permanent vision loss.
395
LEBER HEREDITARY OPTIC NEUROPATHY
Kenneth C. Kubis
Susan Whitmer
Margaret E. M. Scott
GENERAL PREVENTION
Avoid excessive use of tobacco and alcohol if there
is a known maternal family member with the
DESCRIPTION disease or carrier state. HISTORY
Leber hereditary optic neuropathy (LHON) is usually Avoid cyanide-containing products, medications At onset most patients complain of painless central
a unilateral acute or subacute painless profound with mitochondrial toxicity, and environmental vision loss in one eye.
visual loss (20/200 or worse), followed in weeks to toxins especially in the acute phase of the disease. Patients may complain of the sensation of a blur
months by loss of vision in the fellow eye (50% of that obscures vision, or loss of color perception.
cases in 2-3 months). PATHOPHYSIOLOGY Patients may have associated headache, eye
It usually starts as a central scotoma that becomes Each mtDNA mutation affects a subunit of NADH discomfort. flashes of light, color disturbance. limb
larger and obscures vision. dehydrogenase in the oxidative phosphorylation paresthesias. or dizziness.
pathway, which supplies energy to cells. Pedigree analysis may reveal maternal male relatives
It is caused by optic nerve dysfunction resulting from
- It is thought that these mutations cause LHON with profound visual loss.
maternally inherited mitochondrial DNA (mtDNA)
because of the increased energy requirement of
mutations. PHYSICAL EXAM
the optic nerve.
Predominantly in males, mean onset is 18-3 5years -The leading theory is that disease results when Color vision often affected earlier than visual acuity
of age (80--90%), but the age of onset can be early some individually determined minimal energy Central visual field defects
or late in life. requirement threshold is breeched. Decreased visual acuity usually <20/200
EPIDEMIOLOGY ETIOLOGY The classic signs on exam are circumpapillary
Incidence First described in 1871 by Theodor Leber, Professor of telangiectatic microangiopathy, nerve fiber layer
Estimated to be 1:30,000 to 1:50,000 in European Ophthalmology at the University of Gottingen swelling around the disc, and absence of leakage
populations from the disc on fluorescein angiography; however,
COMMONLY ASSOCIATED CONDITIONS these signs may not be seen.
Prevalence Visual dysfunction is usually the only manifestation
1:8,500 in the USA The classic LHON findings may assist in diagnosis,
of the disease. However, cardiac conduction but their presence is not required for diagnosis.
RISK FACTORS abnormalities and other conditions can rarely
Maternal carrier with known mtDNA mutation manifest. DIAGNOSTIC TESTS & INTERPRETATION
Excessive smoking and alcohol consumption have - Preexdtation syndromes, Wolf-Parkinson-White, Lab
been linked to higher rates of visual loss in Lown-Ganong-Levine. and prolonged QT interval Initial lab tests
susceptible individuals. (rare) Genetic testing for mtDNA mutations (see the
- Palpitations, syncope, and sudden death have also "Genetics" section)
Genetia been reported (rare)
Maternally inherited mtDNA mutation Follow-up i spec:ial considerations
-Additional neurologic abnormalities have also EKGs can reveal cardiac conduction abnormalities
"Primary mutations" (single mutation sufficient to been reported (rare) present in some forms of LHON.
cause disease) are G3460A, G1 1778A, and - Deafness. dystonia, hyperreflexia. cerebellar
T14484C accounting for 95% of LHON cases. CSF analysis is normal; however, a Leberplus
ataxia. tremor. movement disorders. muscle disease has been described in patients with a
G11778A accounts for 50%. wasting, gaze evoked nystagmus multiple sclerosis-like syndrome.
> 18 mutations have been reported.
Formal color testing with D-15 panel and
Many sporadic and singleton cases have been Farnsworth Munsell 100 Hue tests can show optic
reported. nerve dysfunction before visual loss.
Risk of visual loss from all mutations is 46% for men Pattern reversal visual evoked potentials (VEPs) may
and 11% for women. be absent or show prolonged latencies and
~ 15% of LHON patients demonstrate heteroplasmy decreased amplitudes.
(mutant and normal mtDNA will coexist); this may
explain the disease threshold with more mutant
alleles leading to higher rates of disease and
transmission in susceptible individuals.
Although the rates of homoplasmy or heteroplasmy
are measured, they may not directly correlate to
levels at the optic nerve.
396
LEBER HEREDITARY OPTIC NEUROPATHY
Imaging o Electron acceptors (vitamin C(4 g daily), menadiol REFERENCES

Initial approach (40 mg dally))
Fluorescein angiogr.~phy can confirm LHON Free radical scavengers (CoQ10, ldebenone (7 5 1. Geromel V, Darin N, Chretien D, et al. Coenzyme
funduscopic features and lack of disc leakage.. mg/kg daily), alpha-lipoic acid (600 mg daily), and Q(10) and idebenone in the therapy of respiratory
Orbital ultr.~sound, CT. and MRI can show disl:l!nded vitamin E (~0 IU daily)) chain diseases: Rationale and comparative benefits.
optic nerve sheaths. o Inhibitors of toxic metabolites (dichloroacetal:l! DCA)
Mol Genet Me!MJ 2002;77:21.
Folluw-up & spetial amsiderations 2. Newman NJ. Hereditary optic neuropathy, Is there a
Issues for Refeal treatment? Neuro-Ophtha/mology. Annual Meeting
Patients witt1 LHON and carriers may show impaired Patients suspected of having LH ON should be followed
mltocl1ondrlal metabolism w!thln limb muscle and S)i/abus 2010.
by a neuro-ophthaImolog1st. 3. Newman NJ. Hereditary optic neuropathies, In:
ocdpltallobes on Phosphorus-31 MRI.
Abnorm allactate production with exercise may be 5URGERY/OT11ER PROCEDURES Miller NR. Newman NJ, Biousse V, Kerrisioon JB
seen in both LHON patients and carriers. o Optic nerve sheath decompression showed no (eds). Walsh & Hoyt's Clinic6 Neuro
improvement Ophthalmology, 6th ed. Baltimore: Williams &
DMgnostk Ptot:edulti/Other Older lltera1ure suggested that aanlotomy with lysis Wllldns, 2005:465-501.
Genetic testing of chiasma! aracl1noid adhesions resulted in visual 4. Newman NJ. Leber hereditary optic neuropathy:
Pllthological Findings improvement Bad habits, bad vision? Brain
Muscle biopsies fail to show morphologic manges of - This study has not been repeated and the distanee 2009:132:2306-2 308
mitochondria and are therefore thought to have from the site of involvement, at the retinal 5. Newman NJ, Lott MT, wallace DC. The dlnlcal
limited value. ganglion cells, makes It dtfflcult to support In light characteristics of pedigrees of Leber's hereditary
of known spontaneous recovery. optic neuropathy with the 11778 mutation. Am J
Other In he~ted optic neuropathies: Dominant optic Ophthalmo/ 1991; 111:7SQ-762.
neuropathy, Wolfr.~m syndrome 6. Nikoskelainen EIC, Huopnen IC, Juvonen V, et al.
ONGOING CARE Ophthalmoscopic findings in Leber hereditary optic
Acquired optic neuropathies: Tobacco-alcohol
amblyopia FOLLOW-UP RECOMMENDATIONS neuropathy, with spedal reference to miDNA
Patient MDIIIfDrlng mutations. Ophrhalmology 1996;1 03:504-514.
Multiple sclerosis
Frequent follow-up for visual acuity can indicate 7. Newman NJ: Chapter 11 : Hereditary optic
Leber's-Pius neuropathies. Walsh and Hoyt's Clinical-
rJ TREATMENT
MEDICATION
regression of the disease.
DIET
A balanced diet rich in antioxidarrts, for example,
vitamins A. C. and E, selenium, and zinc, is
Neurology. 6th ed. Miller NR, Newman NJ,
Biousse V. Kerrison JB. Philadelphia: Lippincott
Williams & Wilkins, 2005.
FlmLine recommended.
As of 201 0 there is no evidence supporting any o Patients have been treated with antioxidant dietary . CODES
intervention in the management of mitochondrial supplements.
disorders. PATIENT EDUCATION ICD9
Second Line o Low vision assistance can help patients use vision 368.41 Scotoma involving central area
Studies are ongoing in gene therapy. that remains intact usually peripher.~l. o 377.9 Unspedf!ed disorder of optic nerve and visual
o Genetic cau nseling is crucial once the diagnosis has pathways
been made. This affords understanding of disease 377. 16 Hereditary optic atrophy
General MNSures transmission. It is criticaI for female carriers ID be
Four main categories identified and educal:l!d.
Vrtamins and cofactors (Coenzyme Q1 O(CoQ1 0))
(doses up to 3000 mg daily, typically <400 mg PROGNOSIS
daily), folic add, vitamin B12, thiamine, riboflavin Rates of spontaneous recovery vary by mutation.
(1 00 mg daily), Lcarnitine (3 g daily), and creatine Patients with 14484 have 37-71% chance of some
(3 g b.i.d.) recovery.
11778 typically shows the worst prognosis,
spontaneous recovery 4%.
o Other favorable prognostic factors are age of onset
< 20 (better < 10) and larger optic disc vertical
diameter on OCT.
397
LENS-INDUCED UVEITIS
Vikram J. Setlur
Sunir Garg
~ BASICS
In lens-induced uveitis, lens proteins are exposed Imaging
through trauma (either surgical or accidental) or Ultrasound biomicroscopy (U BM) of the anterior
DESCRIPTION leakage from a hypermature cataract through an segment may demonstrate IOL contact with uvea for
Lens-induced uveitis results from an autoimmune intact lens capsule. UGH syndrome (3)[CJ.
reaction to crystalline lens protein released from Iris chafe in UGH syndrome is caused by iris-clipped
surgical or accidental trauma (phacoantigenic Diagnostic Procedures/Other
IOL.s, inappropriately sized IOL.s, malpositioned IOLs, Diagnosis in lens-induced uveitis can be confirmed
endophthalmitis) or leaked from a hypermature or rigid closed-loop haptics. It may also occur with
cataract (phacolytic glaucoma). Phacoantigenic by cytologic analysis of cells obtained via anterior
poorly manufactured IOL edges and decentered chamber paracentesis (4)[C[.
endophthalmitis was formerly known as posterior chamber IOL.s.
phacoanaphylactic endophthalmitis (l)[CJ. (2)[CJ. - Infectious endophthalmitis can be ruled out by
analysis of vitreous or aqueous cultures.
~ DIAGNOSIS
Uveitis-glaucoma-hyphema (UGH) syndrome is a
complication of intraocular lens (IOL.) implantation. Pathological Findings
Lens protein can be observed with anterior chamber
EPIDEMIOLOGY HISTORY paracentesis.
Rare cause of uveitis, exact incidence and prevalence Recent history of surgery or eye trauma for
unknown. lens-induced uveitis DIFFERENTIAL DIAGNOSIS
UGH syndrome more often seen with history of IOL Infectious endophthalmitis. especially following
RISK FACTORS surgery
Lens-induced uveitis occurs with cataract extraction implantation one or more years prior to presentation
surgery, ocular trauma with disruption of the Symptoms include pain, redness. photophobia, and Other causes of acute anterior uveitis (e.g. HSV, VN,
anterior lens capsule, or a hypermature cataract. blurred vision. idiopathic. sarcoidosis, HLA-827, and others)
UGH syndrome is more commonly seen with PHYSICAL EXAM
iris-fixated, anterior chamber IOL.s, and sulcus Lens-induced uveitis may cause an anterior uveitis
placed posterior chamber IOL.s. than can be mild or severe and granulomatous or
PATHOPHYSIOLOGY nongranulomatous. Posterior synechiae and
Immune reaction to lens protein in the anterior elevated intraocular pressure are common. Cells
chamber causes lens-induced uveitis. Inflammation may be present in anterior vitreous. Integrity of
can result from surgery or trauma that disrupts the anterior lens capsule should be assessed.
anterior lens capsule. This inflammation can be The uveitis in UGH syndrome is nongranulomatous
granulomatous and severe (phacoantigenic and may be accompanied by transillumination
endophthalmitis). defects in the iris, pigment dispersion, hyphema.
Leakage of hypermature lens protein through an and elevated intraocular pressure.
intact capsule can stimulate a nongranulomatous
anterior uveitis with elevated intraocular pressure
(phacolytic glaucoma).
UGH syndrome is caused by contact between the
uveal tissue and the IOL haptic or optic.
398
LENS-INDUCED UVEITIS
REFERENCES 6. McMahon M5, Weiss JS, Riedel KG, Albert DM.

. TREATMENT Clinically unsuspected phacoanaphylaxls after
1. Apple DJ, Mamalis M, S1einmetz RL, e1 aL extracapsular cataract extraction with Intraocular
MEDICATION Phacoanaphylactic endophthalmitis associated with lens implantation. Br1 Ophthalmol 1985;69(11):
FirstUne extracapsular cataract extraction and pmterior 83&-840.
o Topical corticosteroids. with systemic corticosteroids chamber intraocular lens. Arch Ophthaimol
if needed 1984; 102:1528-1 532.
o Topical antlglaucoma medications for elevated 2. Marak GE Jr. Phacoanaphylactic endophthalmitis. . CODES
intraocular pressure Su!V Of/lthalmo/1992;36(5):325--329.
3. Piette S, Can las OA. Tran HV, e1 al. Ultrasound ICD9
SURGERY/OTHER PROCEDURES biomicroscopy in uveitis-glauroma-hyphema 360.19 Other endophthalmitis
o UGH syndrome patients may require IOL syndrome. Am 1 O{irthalmaJ 2002;1 33(6): 364.23 Lens-Induced l~docyclltls
explantation for per5istent inflamma1ion, 839-841.
glaucomatous nerve damage, or recurrent hyphemas 365.51 Phacolytk glaucoma
4. Kalogeropoulos CD, Malamou-Mitsi VD, Asproudis
(6)[C]. I, et al. The contribution of aqueous humor cytology
o Prompt removal of all lens remnants can be curative in the differentiaI diagnosis of anterior uvea CLINICAL PEARLS
for lens-induced uveitis: Inflammations. Ocullmmuno/ lrrflamm 2004;12(3):
-Optimal treatment involves controlling intraocular 215--225. Lens-Induced uveitis can result from trauma, surgery,
inflammation and pressure prior ID surgery. 5. Abra hams IW. Diagnosis and surgical management or a hypermature cataract that lealcs lens protein.
of phacoanaphylactlc uveitis following Management of lens-induced uveitis indudes
extracapsular cataract extraction with intraocular rortlcosterolds, antlg laucoma medications, and
$ ONGOING CARE lens impIa ntation. JAm lnttaocu/ lm{iant Soc prompt surgical removal of the le~ and lens
fOLLOW-UP RECOMMENDATIONS 1985; 11 (5):444-447. remnants.
Close follow-up to e~ure that lmraocular UGH syndrome resu Its from 10Lcontact with uveal
inflamma1ion and pressure are controlled tissue.
COMPLICATIONS
Phthisis.. glauromatous visual field loss, centraI retinal
artery ocd usion (secondary to elevated intraocular
pressure)
399
LEPROSY
Sriranjani P. Padmanabhan
Jennifer Cohn
Vatinee Y. Bunya
~ BASICS
Genetics Rarely affects posterior segment; retinal pearls
Genes involved in innate immune response thought and/or uveal effusions have been reported
to increase host susceptibility toM. /eprae and Systemic: Thickening offacial skin ("leonine facies"),
DESCRIPTION subsequent immune activation: HLA-DRB 1, thickened peripheral nerves. decreased sensation to
Chronic granulomatous disease caused by HLA-DRDQ, TNFSF1 5, RIPK2, NOD2, PARK2, LRRK2. touch and temperature, variable skin lesions
Mycobacterium leprae including erythema nodosum, hypopigmented or
GENERAL PREVENTION
Also called Hansen's disease erythematous macules, papules or nodules, Lucio
Single-dose rifampin in dose contacts of patients
Primarily affects peripheral nerves, upper respiratory with newly diagnosed disease provides 57% phenomenon (ulcerated erythematous lesions)
tract mucosa, and s~n reduction in subsequent 2-year incidence. DIAGNOSTIC TESTS It INTERPRETATION
Secondarily affects eyes, nose, ears, muscle, bone, BCG vaccination or dapsone prophylaxis is Routine lab tests used primarily to rule out other
and testes marginally effective and not recommended. disease or evaluate drug-related toxicities and/or
Considered one of the 13 neglected tropical diseases contraindications:
WHO classification: Paucibacillary (PB) or PATHOPHYSIOLOGY - PPD and chest x-ray to rule out TB prior to
multibacillary (M B) Granulomatous infiltration of peripheral nerves
systemic steroids
- PB form is also known as tuberculoid leprosy (TT) Predilection for cooler" areas; hence ocular leprosy - T. pallidum agglutination/RPR for syphilis
or borderline tuberculoid (BD in the limited to anterior segment -LFTs depending on treatment regimen
Rid ley-Jopling classification system. It does not Infiltration of lids and globe related to tracking
show intraocular manifestations. along CN VII, corneal nerves, ciliary (uveal) nerves Diagnostic Procedures/Other
Must establish a tissue diagnosis:
- MB form is also known as lepromatous leprosy ETIOLOGY - Can accomplish via conjunctival or corneal
(ll), borderline lepromatous (Bl), or borderline Infection with M. leprae
(BB). scrapings, AC tap, or skin smears or biopsy
Transmission thought to occur via respiratory route
Ocular leprosy tends to be slow and progressive, can Pathological Findings
be blinding. COMMONLY ASSOCIATED CONDITIONS Modified Fite's stain to visualize acid-fast lepra
Eye thought to be a source of re-infection in HIV/AIDS bacilli
previously treated generalized disease Intestinal helminth infections Caseous granulomas causing axonal degeneration is
Blindness is especially debilitating as patients may pathognomonic.
also have compromised mobility and sense of touch. ~ DIAGNOSIS DIFFERENTIAL DIAGNOSIS
Onchocerciasis
EPIDEMIOLOGY
HISTORY Trachoma
lnddence Recent close contact with an infected patient
WHO estimated ~400,000 new cases in 2004. Syphilis
HIV status/impaired cell-mediated immunity Neurofibromatosis
Worldwide incidence currently has a declining trend.
Origin from or travel to endemic areas leishmaniasis
Prevalence Photophobia, epiphora, decreased vision
~400,000 to 20 million cases have been estimated
Sarcoidosis
May not have pain due to corneal hypoesthesia Autoimmune granulomatous uveitides
worldwide.
2-3 million suffer permanent disability from leprosy.

~5--7% of infected individuals suffer from leprosy
related blindness.
Regions of highest prevalence include India,
PHYSICAL EXAM
Cornea: leprous pannus superiorly, prominent
corneal nerves (early ocular finding), hypoesthesia,
exposure, corneal pearls (chalky white stromal
rl TREATMENT
MEDICATION
avascular deposits), interstitial keratitis
sub-Saharan Africa, Latin America, and Caribbean. First Line
Conjunctiva: conjunctivitis, leproma (superficial
Prevalence has dramatically decreased since the Systemic therapy
granulomatous nodule)
1980s due to advent of multidrug therapy. Provided free of charge by WHO to all leprosy
Lens: Cataract, PSC (often treatment induced)
RISK FACTORS patients worldwide
Uvea: iridocyclitis (can occur even after treatment),
Poverty/squalor WHO recommendations for multidrug therapy:
iris pearls (miliary leproma)
Impaired cell-mediated immunity - PB form: 6-month duration of therapy
External: CN VII palsy, lagophthalmos, cicatricial o Adu Its: rifampicin 600 mg once monthly,
Residence in endemic areas entropion/ectropion, brow and lash madarosis (loss dapsone 100 mg daily
Close contact with infected persons. particularly of hair, late finding), dacryocystitis/fibrosis with o Pediatric: rifampicin 450 mg once monthly,
those with MB disease resulting dry eye dapsone 50 mg daily
Males affected more than females - MBform: 12-month duration of therapy
Host genetic susceptibility (see the "Genetics" o Adu Its: rifampicin 600 mg once monthly,
section below) clofazimine 300 mg once monthly, dapsone
100 mg once monthly; then clofazimine 50 mg
daily and dapsone 100 mg daily
o Pediatric: rifampicin 450 mg once monthly,
clofazimine 150 mg once monthly, dapsone
50 mg once monthly; then clofazimine 50 mg
daily and dapsone 50 mg daily
400
LEPROSY
Pediatric Considerations Trichiasis: Epilation or electrolysis Monda! K. Biswas S. Review of ocular leprosy.
Mu~idrug therapy recommended for children older Lagophlhalmos: Should be corrected H> 5 mm, lind/an Med Assoc 2006;104{7):~1-403, 407.
than 10 years of age. Weight-based dose adjuSbnent decreased corneal sensation, monocular, or for WHO Multi-Drug Therapy: Elimination of Leprosy.
necessary for younger children. cosmesis. Tarsal shortening procedures. http:IJwww.who.intfleplmdtfenf (accessed March
tarsorrhaphy, or frontalis musde tmnsfer. 15, 2010).
l'regnancy Considel'lltions
Leprosy is exacerbated in pregnancy. There are no Entrapian!ectropioo: Should be corrected by Zhang FR, et al. Genomewide association study of
current contra indications to the above multidrug dinically appropriate prOC!!dure leprosy. N Enfi J Med 2009;361(27):2609-261 B.
therapy regimens in pregnancy.
SecondUne ONGOING CARE A Sea Also <Topic, Alprilllm, Electronic
Ophthalmic: therapy ~ Medii Element)
Must be concurrent with multidrug tl1erapy FOLLOW-UP RECOMMENDATIONS
Regular follow-up with ophthalmologist given WHO- Leprosy Elimination (http:/Jwww.who.
Many sources suggest escalation and prolongation possibility of recurrent uveitis despite multidrug int/leplenl)
of multidrug therapy with orular disease; howevet therapy
no official guideIines exist
Artlfldal tears and otl1er toplcallub~cants for
corneal and lid pathology
PATIENT EDUCATION
International Fedemion of Anti-Leprosy Assodations
f; coDES
Topical andfor systemic steroids for keratitis and 0LfP) (http:llwww.llep.org.ukl)
ICD9
l~docyclltls PROGNOSIS 030.0 Leproma'lous Ieprosy ttype I)
Topical fluoroqui nolones if necessary for corneaI May have recurrent uveitis despite multidrug therapy 030.9 Leprosy, unspecified
ulll!!ration or daayocystitis (afloxacin shown to be Poor visual morbidity if MBform is untreated for
effective against M.leprae)
364.3 Unspedfled I~docyclttls
prolonged period of time
Often requires definitive surgical therapy for globe May be confounded by poverty
prcrrection and visuaI rehabilitation (see the
Surgery/Other Proll!!d ures section) COMPLICATIONS CLINICAL PEARLS
Decreased vision Iris and corneal pearls are pathognomonic for ocular
ADDITIONAL TREATMENT Blindness leprosy.
Issues for Referral Dlsflguratlon
Management of multidrug therapy and systemic Bilateral iridocyditis is the primary cause of
Death blindness in leprosy.
disease with infectious disease specialist or
Social stigma
leprologist, and dermatologist
ReferraI of close contacts to infectious disease
specialist for prophylaxis (see the Prevention ADDinONAL READING
section)
Consider referral for psychologica lfsodal support Citirik M, et al. Lepromatous iridiocytcitis. Ocul
given long history of social stigma lmmunollnflamm 2005;13:95-99.
Hotz PJ, et al. Control of neglected tropical diseases.
SURGERY/OTliER PROCEDURES N Enf11 Med 2007;357:1018-1027.
Coojunctiva: pterygium excision, if applicable, may Johnson GJ. Update on ocular leprosy. Community
considerably reduce badIIary load
EyeHea/111 2001;14{38):2s-26.
C01'1'/eil: Penetrating keratoplasty for comeal scarring
Moet FJ, et al. for the COLEP Study Group:
Uvea/f1aucoma: Sector iridectomy for iris bombe, Effectiveness of single dose rifampicin in preventing
consider enucleation in blind, painful, glaucomatous leprosy in close contacts of patients witl1 newly
eye diagnosed leprosy: Cluster mndomised controlled
trial. BM1200B;B6(764n:761-764.
401
l.EUKEMWBLOOD DYSCRASIA$
PaulS. Baker

Previous cancer treatment (certain chemotherapy
and radiation therapy)
Leukemic retinopathy:
- Hemorrhages are the most common finding,
frequently multifocal and bilateral. May be sub-,
DESCRIPTION Genetic diseases (i.e., Down syndrome) intra-, or preretinal with potential breakthrough
Intraocular leukemia is an uncommon ophthalmic Blood disorders (i.e., myelodysplastic syndromes) into vitreous cavity. Cotton wool spots are also
disorder, which is due to an accumulation of circulating High levels of radiation seen.
leukemic cells in the choroid, iris, ciliary body, neural - Significantly more common than true malignant
Certain chemicals (i.e., benzene)
retina, optic nerve, vitreous, and anterior chamber. infiltrates
Leukemia also causes a hemorrhagic retinopathy. Smoking -Usually secondary to associated anemia and
Family history of leukemia thrombocytopenia
Geriatric Considerations
Acute myelogenous leukemia is the predominant ETIOLOGY - Larger intraretinal hemorrhages may have
leukemia type in adults. Compared to children, History of leukemia, which is a cancer of the blood or prominent white centers, known as Roth spots,
bone marrow characterized by an abnormal some of which may represent small leukemic
survival rate is significantly lower.
proliferation of blood cells, usually leukocytes infiltrates.
Chronic leukemias are generally found in older - Peripheral retinal capillary nonperfusion and
individuals and often appear in an indolent manner.
~ DIAGNOSIS
microaneurysm formation has been observed in
Pediatric Considerations patients with chronic myelogenous leukemia,
Acute lymphocytic leukemia is the predominant which rarely leads to neovascularization.
HISTORY Hyperviscosity syndrome:
leukemia type in children and has a 50% cure rate. Decreased vision or asymptomatic - Pathologic mechanism related to increased blood
EPIDEMIOLOGY Signs and symptoms of leukemia: viscosity
lnddence - Coagulopathy (decreased platelets) -Results from high white cell count (leukemia), red
The cumulative lifetime incidence of intraocular - Frequent infection (dysfunctional leukocytes and a blood cell count (polycythemia vera), monoclonal
leukemia in the United States is about 1 case per compromised immune system) gammopathy (i.e., Waldenstroms, multiple
2000--2500 persons. - Dyspnea and pallor (anemia) myeloma)
Peak incidence of intraocular lesions mirrors that of - Constitutional symptoms, such as fevers, chills, -Venous stasis retinopathy can include vascular
leukemia in general. persistent fatigue, and weight loss tortuosity, microaneurysm formation (posterior
- Enlarged lymph nodes and peripheral), retinal hemorrhages, peripheral
Prevalence
PHYSICAL EXAM nonperfusion, neovascularization, intra- and
1out of every 6 patients with leukemia develops
ophthalmic symptoms that lead to referral to an Leukemic infiltrates: subretinal fluid, mild central retinal vein occlusion
- Can involve many intraocular structures - appearance,
ophthalmologist.
choroidal most common, but retinal changes are - Suspected with bilateral changes
Ocular findings are more common in acute leukemia
most recognizable Opportunistic infections:
compared to chronic leukemia.
- Most characteristic clinical intraocular lesions - CMV retinitis is the most common infectious
In a small prospective series, 62% of 120 newly - Unifocal or multifocal, and one or both eyes retinitis
diagnosed acute leukemia patients had some level -Typical lesions are fuzzy, flat, white retinal patch - Progressive outer retinal necrosis
of retinopathy (1 )[A]. often associated with retinal hemorrhages and - Ocular toxoplasmosis
In another series of 288 newly diagnosed acute overlying vitreous cells. - Fungal infection
leukemia patients, 35% had ocular findings but - Other infiltrative lesions include vitreous cells,
only 10% had symptoms (2)[A]. retinal vessel sheathing, optic disc infiltration,
- Ocular findings are more common in adults than retinal pigment epithelial detachment. exudative
in children. retinal detachment, localized or diffuse choroidal
10% of all detected intraocular lesions in leukemic infiltration, neoplastic pseudohypopyon, and iris
patients are infiltrative. infiltration.
402
lfUKEMIAIBLODD DYSCRASIAS

Lab . TREATMENT Leukemic retinopathy has prognostic significance
Evaluation for suspected leulcemlc Intraocular based on multlple studies.
infiltrate indudes a complete hematologic workup in MEDICAnON - In 63 patients with dlildhood leukern ia, 511!ar
conju nttion with an inl!!mist. FlrstUne surviwl was lower in those with leu teem ic
- Complete blood rount Systemic chemotherapy is administered to corrtrol retinopathy on presentation than in those
- Bone marrow aspiration or biopsy underlylng problem. without ophthalmic involvement (21% vs 46%)
- Systemic staging evaluation Intraocular manifestations of leukemia usually are (5)[8).
-Lumbar puncrure for cerebrospinal fluid evaluadon not treatEd directly. 11 anemia and thrombocytopenia are addressed,
- Serum protEin electrophoresis for hyperviscosity
S8condUIHI hemorrhagic retinopathy can improve.
syndrome
When leukemic Infiltrates fall to respond to Leukemic infiltratEs are viewed as a poor prognostic
Imaging system lc chemotherapy, ocu tar radladon Is often sign.
Magnedc resonance Imaging of the orbits and brain recommended.
If op11c nerve lnflltratlon
ADDmONAL TREATMENT REFERENCES
Serous macular detadlments with hypervisCDSity can G8n81'81 MHSUI9S
.show a characteristic silent fluorescein angiogram Supportive measures (I.e., blood transfusions) are 1. Schachat AP. MaOO!witz JA. Guyer DR. et aI.
with minimal leakage (3)[8]. recommended for patients with severe anemia or Ophthalmic mantfestadons of leukemia. Arm
o;.gnostk fllt'o<:edulW!Oth8r thrombocytopenia. Ophrhalmo/ 1989; 107:697-700.
Flne-need le asplradon biopsy or diagnostic High-dose chemotherapy may increase suscep-tibility 2. Reddy SC, Jackson N, Menon BS. Ocular
pars-plana vitrectomy if diagnosis in doubt: for radiation retinopathy at otherwise safe radiation involvement in leukernia - a study of 288 cases.
-Patients with leukemia are often doses. Ophrhlllmo/o!ica 2003;2 17:441-445
immunosuppressed from their disease andfor 3. Ho AC, Benson WE, Wong J. Unusual
Issues for Refwnll
chemotherapy treatment. making it difficuIt to lmmunogammopathy maculopathy. Ophthalmology
Treatment of blood dyscrasia, such as leukemia, is
cllnlca tty distinguish between leukemic Inilltrates always performed by an experienced 2000;107:1099-1103.
and other Infectious lesions by opponunlsdc 4. Kincaid MC, Green WR. Owlar and orbital
hematologist/oncologist.
organisms. involvement in leukernia. Surv Ophrha/mol
,athologlcal Findings Addition/ TherpifiS 1983;27:21 1-232.
In an autopsy series, choroidal infiltration is most HypeiVIscoslty syndrome often Improves with 5. Ohkoshi K. Tsiaras WG. Prognostic importance of
treatmem of underlying disorder ophthalmic man1festadons In childhood leukaemia.
common.
- In arute setting, leukapheresis (for leukemia) or Br J O(ilrhalmo/ 1992;76:651~55.
At the time of death, 28-80% of padents have plasmapheresis (for watdenstriim's and multiple
ocular involvemerrt on autopsy (4)[8]. myeloma) can be successful~ utilized.
L.eulremic infiltration observed in the uvea, optic SURGERY/OTHER PROCEDURES . CODES
disc, retina, vitreous. lumen of dloroidal and retinal Panrednal photocoagulation Is used In the setting of
blood vessels. peripheral nonperfusion and retinal ICD9
DIFFERENnAL DIAGNOSIS neovascularization. 208.90 Unspecified leukemia, without mendon of
Infectious i nfi ltral!!: having achieved remission
-Candida ONGOING CARE 362.42 Serous detachment of retinal pigment
-Syphilis epithelium
-Lyme FOLLOW-UP RECOMMENDATIONS 362.81 Retinal hemorrhage
-Nocardia Full evaluation, staging and treatmerrt by an
- ( IYJ)IOCOCCUS onrologist/hematologist
Noninfectious infiltrate: Giver1 the large percentage of leukemia patients
- Sarcoid granulorna with retinopathy, routine ocular examination is
- Pars plan itis recommended for aII padents with newly diagnosed
Primary Intraocular lymphoma arute leukemia.
More frequent ophthalmic follow-up is
recommended in the setting of significarrt leukemic
infiltrates. retinopathy, or hypetviscosity syndrome.
403
LOW VISION
Scott A Edmonds
Susan E. Edmonds
Ryan P. Edmonds
~ BASICS
Follows ocular genetic patterns for many causes Visual acuity
Retinitis pigmentosa Distance
DESCRIPTION Stargardt's Near
Condition where there is a permanent loss in vision Optic atrophy Slit lamp exam:
due to any disease or disorder where some usable - Media integrity
Macular degeneration
vision remains but desired life function is limited.
K reading or topography
Some common causes are macular degeneration, GENERAL PREVENTION
diabetic retinopathy, optic neuropathy, and disorders Maintain ocular health Fundus examination:
- Photographic
of the visual pathways. Protect eyes from uv light
Refraction:
Geriatric Considerations Maintain cardiovascular health
- Encourage eccentric viewing
Extra time is required to evaluate this population. Control systemic disease -Trail frame
Concentration on near taslcs is required. Diabetes -Large steps 0.50, 1.00, 2.00
Clinical pictiJre can be affected by dementia and PATHOPHYSIOLOGY - Diagnostic tests & hand held cross cylinder testing
cognitive disorders. Varies with underlying cause - Bracket to end point
Media disorders Magnification testing:
Pediatric Considerations - Inverse of distance acuity formula
Accommodation can compensate for magnification. Retinal disorders
Neurological disorders 20/200 ... 200/20 = +10.00 Add
Presbyopia occurs very early due to the need for -Test at focal length of Add
close working distances. ETIOLOGY -Increase Plus until target near acuity is achieved
Telescopes and distance magnification often Ocular disorders that result in permanent vision loss (0.8 M)
required. COMMONLY ASSOCIATED CONDITIONS Reading function testing:
Diabetes -Sloan Cards, MN Read, or equivalent
EPIDEMIOLOGY Telescope testing:
Incidence Vascular disorders
Macular degeneration - 2.2 x wide angle telescope over best refraction in
1/28 for Americans over 40 trial frame
Glaucoma - Increase magnification until desired distance
Prevalence
Optic neuropathy acuity is achieved
3.3 million adults in the USA
0.65-2.75/1000 children
~ DIAGNOSIS
Difficult to determine due to different definitions for Diagnostic Procedures/Other
low vision and impainment Refractive, magnification testing, and reading
HISTORY
RISK FACTORS tests:
Medical
Follows cardiovascular risk. factors - Provide an excellent overview of the patient's
Ocular function:
Genetic Functional o Are the patient's specific goals realistic?
Diet Reading o Can rehabilitation bridge the gap?
Exercise Driving Rehabilitation will require repetitive reading tasks at
Smoking Educational needs home:
UV light exposure Personal independence -Follow-up visits are required to monitor progress
and introduce other low vision aids to meet
patient goals.
-Visual fluctiJations or changes in the disease will
require reevaluation.
404
LOW VISION
ADDITIONAL READING
Edmonds SA. Edmonds SE. New evidence that vision
ADDITIONAL TREATMENT FOLLOW-UP RECOMMENDATIONS rehabilitation is a key component in the
Rtthabiln.tion Patients need aggressive follow'iJp during management of patients with marular degeneration.
First line: rehabilitation ancllntroductlon of new low vision Cuff Opin Ophtha/mo/2006;17(3):278-280.
- Establish eye movement patterns consistent with aids: Faye EE. Clinical/ow vision, 2nd ed. Boston: Uttle
- 2-4 weeks, 3 months. 6 months Brown and Company, 1984.
reading or the aCOJrate identification of details:
o L.argep~m l'llfifmt Monitoring Freeman P, Jose R. The aft and practice uf low
o Regular print Annual vision. Boston: Butterworth Heinemann, 1997.
Second line: Rosenthal B, Thompson B. Awareness of age-related
DIET
- MagnHicatlon devices to achieve speclflc goals marular degeneration in adu Its: The results of a
Diet or supplements consistent with management of
- Near spotting tasks like shopping, menus. setting large-scale International survey. Optometry
underlying oOJiar problem, i.e., Marular Degener.rtion
stove, thermostat, and dials 2003;74{1):16-24.
- AREDS recomml!lldations
- Hand held magnifiers Stheim an M, Scheiman M, Whitta ki!r SG. Low vision
-Reading books, magazines. mail PATIENT EDUCATION rehabl1iti1tion: A practir:a/ guide for occupiltional
- Spectacles mounted micrnscopes (high adds) Educate the patient on the underlying orular disease therapists. Thorofare, NJ: Slack Inc. 2006.
- Personal rna nagement Educate the patient on goals and progress of low
- Closed drtu it TV or electronic magnifiers vision rehabilitation
- Distance tasks Educate the patient on required lifestyle changes . CODES
-Telescopic lenses U.e., driving)
Gen.ral MNsures Educate the patient on other resources that may be ICD9
OcxupationaI therapy available to assist him or her. 369.9 Unspecified lrisualloss
o Home evaluation
- Support groups
- Para-transit
lssws for Re(w,al - Large print CLINICAL PEARLS
Depression or mentaI health issues Review new low vision aids and strategies on
o Psychology/psychiatry annual follow-up Positive attitude throughout evaluation and
treatment is required to manage low vision problems
Additional Therilp;.s PROGNOSIS
o Close follow-up with specialty ophthalmology to Manage refractive problems flrst
Based on underlying ocular disease Consider contact lenses
manage underiying 001lar disease o Based on underlying systemic disease
Close follow-up with ather medical spedaltles to Consider prism
manage underiying systemit disease (diabetes) COMPLICATIONS Extensive counseling and patient education
MentaI health issues Follow patients closely, consider changes in
SURGERY/OTliER PROCEDURES management plan, and work closely with referring
Progression of related disease
If low 'llslon management cannot achieve required IHe eye doctors and other specialists
goals, aggressive surgical options must be r.:onsidered.
Refer fur ancillary servic:es
Occupational therapy
Mental health
Orientation and mobility training
Support groups
405
LOWE SYNDROME
Ahmara V. Gibbons
Alex V. Levin
~ BASICS
Ocular manifestations: Infantile cataract, infantile Lab
glaucoma conjunctival cheloids (25% of patients) Initial lab tests
DESCRIPTION (4)]C], late-{)nset retinal dystrophy Renal function studies and urinalysis
Lowe syndrome is a multisystem disorder Neurologic manifestations: Hypotonia, absence of Urine amino acids
characterized by anomalies affecting the eye, deep tendon reflexes. compromised suck reflex. OCRL mutation analysis
nervous system, and kidney (1 )[8]. developmental delay behavior disturbances (87%), Follow-up & special considerations
It is also lmown as oculo-cerebral-renal syndrome of seizures (50%) (1,5) [B] Renal function must be monitored over time as
Lowe. Renal manifestations: Fanconi syndrome worsening will likely occur.
(proteinuria, proximal renal tubular acidosis, renal Imaging
EPIDEMIOLOGY
phosphate wasting, hypercalciuria, aminoaciduria, Initial approach
Incidence and hypokalemia) with secondary failure to thrive
There have been ~ 190 known living cases in the and eventual chronic renal failure (5) Brain MRI may show mild ventriculomegaly and
United States as of 2000 (1)[8]. Renal wasting is associated with the presentation of multiple periventricular cystic lesions (6)]8].
renal rickets, osteomalacia, and pathological - MRl findings stabilize with time and currently
Prevalence has no clinically significant meaning (6)]8].
fractures.
1 in 10 affected males in 1,000,000 inhabitants of Hypercalciuria is associated with nephrocalcinosis Diagnostic Procedures/Other
the United States (1)[B] and nephrolithiasis. 8-scan ultrasound if no fundus view
RISK FACTORS Hyperkaliemia is associated with secondary Photography of optic nerves recommended to allow
hyperaldosteronism. for monitoring of sequential change due to
X-linked recessive: Female carriers with each
Cryptorchidism (1)]8] glaucoma
pregnancy have a 25% risk of having an affected son,
25% risk of having a carrier daughter, 25% risk of Characteristic facies Pathological Findings
having an unaffected son, and 25% risk of having a Cataracts are small and discoid containing posterior
~ DIAGNOSIS
noncarrier daughter (2.3)[C,B]. lenticonus.
- Fetal nucleus may show retention of the lens
Genetics nuclei with lens capsular excrescences.
Caused by mutations in OCRL1 gene (Xq24-26); HISTORY Patients show embryonic anterior chamber angle
30% of affected males due to de novo mutations Family history with anterior displacement of rudimentary ciliary
Germline and somatic mosaicism in 4.5% of patients Visual deficit due to cataract processes.
Rare female affectation due to chromosomal Signs and symptoms of infantile glaucoma - Histology may show segmental hypoplasia of the
aberration or adverse lyonization (2,3)[C,B] (buphthalmus, photophobia, epiphora, corneal iris dilator muscle.
clouding) Retina shows Lange's folds with peripheral retinal
GENERAL PREVENTION Failure to thrive
Genetic counseling cystoid changes.
Developmental delay, seizures Some cases may show hyalinized retinal vessels and
PATHOPHYSIOLOGY Symptoms/signs of renal disease or chronic renal mild gliosis.
Cataract: Altered migration of lens embryonic failure {1 )[8] The anterior lens of carrier females has many small,
epithelium causes dense cataracts that are present irregular, punctate spots, clustered in zones or
at birth and usually involve the posterior lens. PHYSICAL EXAM wedges.
Glaucoma due to goniodysgenesis: Facial dysmorphisms are often present and consist
- Other manifestations due to accumulation of of vertically elongated and prominent forehead, fair Carrier females may also present with round,
phosphatidylinositol biphosphate (PiP2) cause a complexion. conical, white plaque in the central portion just
disequilibrium in phosphoinositides. - Plot height. weight. and head circumference on inside the back capsule (or shell) of the lens (7)[8].
- Convoluted cytoskeleton remodeling and growth curves. Full ocular examination with DIFFERENTIAL DIAGNOSIS
dysfunctional membrane trafficking cause attention to evidence of cataract. glaucoma (may Congenital rubella
dysregulation of endocytosis, defective require sedation or anesthesia for exam), or
Peroxisomal disorders
maintenance of tight and adherens junctions, and corneal/conjunctival keloids is required.
Mitochondriopathies
protein trafficking abnormalities (2)]C]. - Neurologic assessment for hypotonia with absent
deep tendon reflex and poor suck reflexes needs Numerous syndromes combine developmental delay
EnOLOGY to be done. and cataract but the renal and glaucoma features
The OCRL1 gene is an inositol polyphosphate 5 will help to narrow differential diagnosis.
phosphatase (a phosphatidylinositol). - Examine mother for radiating dot lenticular
opacities which signify the carrier state. Mother
may also have signs of the disease including mild
difficulties with mentation, retinal dystrophy, or
other signs {1.4) ]B,C].
406
LOWE SYNDROME
PROGNOSIS 6. Demmer LA. Wippold FJ, 2nd, Dowton SB.

. TREATMENT Death usually occurs between the end of second Pe~vent~cular wh 1te matter cystic lesions In Lowe
decade and the beginning offounh decade.. (oculocerebrorenaO syndrome. Anew MR finding.
MEDICATION In fl rst years of life, death ocwrs as a consequence Pediatr Radio/ 1992;22(1 ):76-77.
Antiseizure medication as needed of renal disease. hypotonia, or susCI!ptibility to 7. Tripathi RC, Cibis GW, Tripathi BJ. Lowe's
Psychoactive medication for behavior issues: infectious disease. syndrome. Trans Ofi!tha/mo/ Soc UK 1980;
-Renal management often lndudes sodium or - Respiratory or gastrointestinal infections are 11XJ(pt 1):132-139.
potassium citrate and sodium bicarbonate. Renal common.
rickets is treatl!d with phosphate supplementation Most frequent causes of death are respiratOIY Q See Also {laplc, Allal1thm, Electronic
and vimmin D. Treatment should be targeted disease, epileptic seizures. and sudden death while ~ Media Elll'llntl
toward maintaining serum calcium and sleeping.
parathyroid hormone within the normal range. Longest reported survival is 54 years old (I )[B[. See also Algorfth m.
-Glaucoma management may involve medical For more on the treatment of Infantile Glaucorna
control unless infantile presentation and VIsual prog nosls limited by ultimate retinal dystrophy read the comprehensive glaucoma section.
gonioscopy indicate surgery (see the Inlantile Early response to cataract and glaucoma
Glaucoma chap1e~ intervention can be positive.
ADDITIONAL TREATMENT COMPUCATlONS . CODES
General Measures Amblyopia
Aphakiclpseudophakic rehabilitation Glaucoma ICD9
Low vision inteMntion as indicated Cataract 270.8 Other spedfied disorders of amino-add
At risk for amblyopia -treat as indicated Retinal dystrophy membolism
Seizure disorders 365. 14 Glaucoma of childhood
Issues for Refenal 366.00 Nansenile cataract, unspecified
ConsuIt medical genetics Renal insufficiency
Developmental delay
Genetic counseling (3)[8]
Respiratory Issues
Nephrology CLINICAL PEARLS
Neurology: Lowe S)T1drome or the ocu la-cerebro-renal
-Developmental pedlatrldans. ocwpatlonal REFERENCES
syndrome of Lowe is a multisystem disorder
therapists, physical therapists, speech therapists characterized by anomalies that affect the eye,
- Psythology/psychiatJy lor behavior.ll issues or 1. Lol M. Lowe syndrome. Orphanet JRare Dis
2006;1:16. nervous system, and kidney.
general surgery if cryptochidism
2. Monnier N, et al. OC RL1 mutation analysis in Lowe S)T1drome is a rare X-linked recessive disease
SURGERY/OTHER PROCEDURES French Lowe syndrome patients: Implications for marlced by mutations in OCRL1 (Xq26.1).
Glaucoma surgery as indicated (see the lnfantile molecular diagnosis strategy and genetic Neonates present with bilateral cataracts and severe
Glaucoma chapter) (1)18]. Usually initial surgery is counseling. Hum Mutat 2000;16(2):157-165. hypotonia.
goniatomy or trabecu lotomy. 3. Cau M, et al. A locus for familial skewed X Infants (> 6 weeks or months) present with proximal
chromosollll! inactivation maps to chromosome Falconi-type renal tubulopathy, glaucoma, and
Cataract surgery as indicated Xq2 5 in a family with a female manifesting Lowe cheloids.
RenaI transplantation may be needed. syndrome.J Hum Genet 2006;51{11):103Q-1036. Molecular and enzymatic test! ng Is ava liable for
4. Tripathi RC, Cibis GW, Tripathi BJ, Pathogenesis of prenatal detection and confirmation of the
ONGOING CARE cataracts In patients with Lowe's syndrome. diagnosis..
Ophthalmology 1986;93(8): 1046-1051. Treatment options are multidisciplinary and should
FOLLOW-UP RECOM MENDA110NS 5. Scriver CR. The metilbolic: & makcular bases af indude cataract I!XI:raction, glaucoma control,
Periodic examination for glaucoma and cataract inherited disease, 8th ed. New York: MeGll!W-HiII, physical and speech therapy, correction of tubular
i1551!s.sment 2001;4v:6338. acidosis. and complications and chronic renal failure.
Renal monitoring
Patients should follow up with a neurologist for
appropriate treatment of seizures (1)[B[
Developmenml support
DIET
As indicated for rena I issues
I
PA11ENT EDUCATION
Lowe's Syndrome Association: 972-733-1338
(ITitp:/lvMw.lowesyndrome.orgl)
407
LYME DISEASE
Donelson Manley
~ BASICS Use care when handling outdoor pets inside homes.

Reduce deer population in suburban and rural areas. ~ DIAGNOSIS
Reduce the number of primary hosts on which the
DESCRIPTION deer tick depends, such as rodents. Ocular symptoms: Blurred vision, eye pain, injection
Lyme disease is a worldwide inflammatory, of conjunctiva, diplopia, floaters, progressive visual
A vaccine was developed for its cure, but was
immune-mediated, multisystem disease tllat begins loss. paresthesias
voluntarily withdrawn from the market in 2002 by
with a pathognomonic skin rash. Later, neurologic, Ocular manifestations: Third, fourth, or sixth cranial
the manufacturer due to poor sales.
cardiac, rheumatologic, dermatologic, and nerve palsies with diplopia, conjunctival injection,
ophthalmologic manifestations may occur. PATHOPHYSIOLOGY follicular conjunctivitis, keratitis, exposure
It is named after the village of Lyme, Connecticut, Because the bacteria's flagellae are located inside keratopathy (facial nerve palsy) with hypesthesia,
where a group of children were studied who had an the periplasm between the inner and outer cell idiopathic orbital inflammation, episcleritis, scleritis,
unusual rash associated witll rheumatoid arthritis. membranes, the cell is able to travel through bodily granulomatous anterior uveitis. pars planitis. vitreitis.
As they developed the illness during tile warmer fluids and tissues. afferent pupillary defect, optic and retrobulbar
months a tick transmission was suspected. It is believed that the bacteria use a variety of neuritis, ischemic optic neuropathy, retinal arteriole
It commonly begins in the spring, summer, and fall mechanisms to evade the host immune response. occlusion, optic nerve edema, retinitis
owing to the timing of tile tick's blood meals. Less The bacteria produce specific outer surface proteins Ocular complaints usually occur during stages I and
common in winter. in order to successfully invade and inhabit certain II (see the 'Physical Exam' section below).
organisms. The bacterial outer surface proteins are
EPIDEMIOLOGY able to bind host factor H, a regulator in the HISTORY
The Centers for Disease Control and Prevention complement activating pathway. By binding this Travel to an endemic area
(CDC) began surveillance for Lyme disease in 1982. regulator, the bacteria may be able to protect Tick bite
In 1991, Lyme was classified as a nationally themselves from complement killing.
reportable disease. PHYSICAL EXAM
Once the bacteria have entered the host, it becomes Complete systemic. neurologic. and ophthalmologic
It is the most common tick-borne disease in the very invasive and can spread quicldy throughout the examinations
temperate northern hemisphere, in the USA and entire system.
Europe. Stage 1:
The exact mechanisms for its pathology are still
It is one of the fastest growing infectious diseases in The diagnosis of Lyme disease is based on clinical
trying to be understood.
the USA. features in a person who has traveled to or lives in
The outer membrane of Borrelia burorferi is an endemic area during the spring, summer, or fall.
It has been reported in 49 of the 50 states, but the composed of various unique outer surface proteins.
majority of cases are confined to five geographical After the tick bite, the first symptom is a skin rash
These can be varied in response to immune attack.
areas (New England, Mid-Atlantic. East-North called erythema migrans, which is usually a flat
Another way 8. burorferi evades the immune reddish rash that spreads from the site of the bite.
Central, South Atlantic, and West North-Central). It
system is to establish a chronic infection. The exact
has also been reported in China, Europe, Japan, and The rash is usually >2 inches wide and can grow
mechanisms for its pathology are not completely
parts of the former Soviet Union. larger.
understood.
lnddence It often develops a central clear area known as a
In the 10 states where Lyme disease is most
ETIOLOGY bull's eye: The rash doesn't itch or hurt.
common, the average was 31.6 cases for every B. burorferi is the infectious agent. It is Some individuals do not recall the rash.
Gram-negative spirochete in the genus Borrelia and Ophthalmological manifestations include
100,000 persons for the year 2005.
is named for Willy Burgdorfer who isolated it from conjunctivitis and periorbital edema.
In 2006, 19,931 new cases were reported in the
the intestine ofthe Ixodes tick in 1982. Otller symptoms at this stage can include fever,
USA.
Its life cycle is complex and requires ticks, rodents, chills, nausea, muscle and joint aches, fatigue,
Prevalence and deer at various times. The white-footed mouse headache, severe stiff neck, and swollen lymph
Of cases reported to the US CDC, the ratio of Lyme is the primary reservoir for the bacteria. nodes.
disease infection is 7.9 cases for every 100,000 The bacteria are maintained in a natural cycle of
persons. Stage 2:
infection by ticks. The ticks acquire and transmit the
bacteria by feeding on the mouse, which acts as a Early infection (1-4 montlls) occurs when the
RISK FACTORS spirochete has disseminated to many organs
It is present in an area where one could be bitten by a reservoir. Ixodes ticks harbor the bacteria in their
stomachs. including the skin, heart, joints, and nervous system.
tick. Fatigue may be present.
After attaching themselves to deer, the ticks transfer
GENERAL PREVENTION the bacteria during a blood meal. The ticks fall off The original skin lesion may fade and then recur and
Avoidance of tick bites is the most important way to onto vegetation and are transferred inadvertently to become chronic and may appear in other areas of
prevent Lyme disease. humans as they travel in tick-infected areas and are the body.
Avoide the woods, high brush, and grasses where bitten. Ophthalmological manifestations include
ticks are present. Once the bacteria enter the host it becomes very blepharospasm, iritis/uveitis, panophthalmitis,
Wear protective clothing when out of doors; long invasive and can spread very quicldy throughout the choroiditis, optic disc edema, macular edema,
pants, long sleeves, and light colored clothing make entire system. pseudotumor cerebri, optic neuropathy, nonarteritic
it easier to spot ticks. ischemic optic neuropathy, temporal arteritis. optic
The disease is not transmitted from one human to
Apply tick. repellant (DE ET) to clothing. another. atrophy, Horner's syndrome, and Argyll Robertson
Remove clothing before entering the house. pupil.
Take a shower and examine skin for ticks soon after
returning from wooded areas or areas with high
grass or brush. Complete inspection ofthe skin and
scalp in children is recommended.
Remove attached ticks as soon as possible.
408
LYME DISEASE
Cardiac effects indude palpitations. arrhythmias, In children, pregnant women, and those who cannot Nau R, Christen HJ, Eiffert H. Lyme disease- wrrent
and A-V blocks. take doxycycline, su bstltute amOldclllln 500 mg PO state of knowledge. Deutsches Atzteblart lnr
Neurologic d1anges include meningitis, t.i.d., cefuroxime amil500 mg PO b.i.d., 2009;1 06(5):72~2.
meningoencephalitis, craniaI neuritis, and darithromycin 500 mg PO b.i.d., or azithromycin Winterlrom JMS. Lyme disease: Neurologic and
llldiculoneuritis. Severe headaches, nausea, 500 mg PO dally. ophthalmologic manifestations. Surv Oph thaimol
vomiting. and photophobia may occur. Patierrl5 with neunHJphthalmit signs of 1990;35{3):191-204.
stage 3: rea.rrrant or resistant infection: Winward KE, Smith JL, Culbertson WN, et al. Owlar
Clinical manifestations may continue for years. Ceft~axone 2 g Intravenous~ da I~ for 2-3 weeks Lyme borreliosis. Am J O{iltha/mo/1 989; 108:
Alternatively, penidllin G, 20 million units 651~57.
OphthalmologlcaI manlfestatlons Include 5ll'Ornal
lrer.rtitis, episdetitis, orbital myositis. and cortical intravenously daily for 2-3 weeks
blindness.
Sldn changes called acrodermatitis chronlca
SURGERY/OTHER PROCEDURES CODES
llck removal: Removal with foroeps Is preferred. The
atrophicans may be present as a red swollen skin tick should not be crushed or squeezed; this may
area that causes the underlying skin to atrophy. ICD9
cause regurg italion of blood from the tick into the skin 08i.81 ~me disease
Arthritis may ocwr and be present in the majority of thereby Increasing the likelihood of Borrelia
patients and may simulate meumatDid arthritis. 370.50 Interstitial keratitis, unspecified
transmission. After the tick has been removed the site
372.39 Other conjunctivitis
DIAGNOSnC TESTS & INTERPRETATION should be deansed.
Diagnostic l'roCfHiures/Other
TW&-step diagnosis with a screening assay and ONGOING CARE CLINICAL PEARLS
confirmatory Western blot far B. burg/Oiferi.
Serum RPR and FTA-ABS. High positive FTA-ABS FOLLOW-UP RECOMMENDAnONS ~me disease has many ophthalmic manifestations.
titer may produce a low false-positive antibody titer Every 1-3 days until Improvement Is demonstrated, including uveitis, optic neuropathy, and arteritis.
against B. burgdOiferi. and then weekly until resolved Lyme disease has many systemic manifestations.
Consider Iumbar puncture when meningitis is PATIENT EDUCATION including meningoencephalitis and cardiac
suspected or neurologic signs or symptDms are Wear protective light colored cloth lng so as to make arrhythmias.
present it easier 1D spot ticks. Lyme disease can be prevented by avoiding tick.
Carefully inspect skin for ticks. bites.
DIFFERENnAL DIAGNOSIS Timely diagnosis and initiation of treatment improve
lhe differential diagnosis of retinitis and optic nerve Remove ticks r.Jpid ly.
Remove dothing when entering the house. prognosis of Lyme disease.
edema includes cat-scratch disease, syphilis. acute
retinal necrosis, and toxoplasmosis. Shower after entering the house.
PROGNOSIS
. TREATMENT Most patients respond well to antibiotics.
Prognosis depends upon promptness of diagnosis
ADDITIONAL TREATMENT and treatment.
Gemm~l Musul'fn COMPLICAnONS
B. burgiotferi bacteria ar-every slow growing, with a Ophthalmic complications indude visual loss from a
doubling time of 12-18 h. Since most antibiotics kill variety of mechanisms.
bacteria only when they are dividing, this longer
doubling time necessitates the use of relatively longer
treatment courses far ~me disease. ADDinONAL READING
Ocular:
Topical corticosteroids for anterior segment Aaberg TM. The expanding ophthalmologic
inflammation spectrum of ~e disease. Am J Ophrha/mo/
1981:77~0.
Earfy Lyme disease (including Lyme-related uveitis, Ehlers J, Shah C. (Eds). The Wills eye manual. 5th
keratitis, or seventh nerve palsy): edn. Wolters Kluwer/Upplnc:ott. Williams and
Doxytydine 1DO mg PO b.i.d for 1G-21 days Wilkins, 2007:371-372.
409
MACULAR CORNEAL DYSTROPHY
Hall F. Chew
~ BASICS GAGs stain with Aldan blue, Hale colloidal iron,

metachromatic dyes, and Periodic Acid-Schiff (PAS).
Lab
Electron microscopy shows that the GAGs stain Initial lab tests
DESCRIPTION positively in keratocytes and endothelial cells. They ELISA may be used to measure sulfated keratan
Macular corneal dystrophy (Groenouw corneal also stain positively in the extracellular matrix sulfate.
dystrophy Type II, Fehr spotted dystrophy) is an fibrillogranular material. Follow-up ll special considerations
autosomal recessive, progressive, bilateral,
ETIOLOGY Slit-lamp examination
noninflammatory condition characterized by multiple
opacifications with intervening haze within the Autosomal recessive, progressive, bilateral, Ultrasound pachymetry
corneal stroma. noninflammatory condition characterized by multiple Specular microscopy
opacifications with intervening haze within the
Patients present with corneal clouding by ages Pathological Findings
3-9years. corneal stroma. The opacities are glycosaminoglycans (GAGs,
Opacities are focal, gray-white, ill-defined, and The opacities are glycosaminoglycans (GAGs or mucopolysaccharides) that accumulate intra- and
extend to the peripheral cornea. They can present mucopolysaccharides) with corneal clouding by ages extracellularly in the corneal stroma, Descemet's
throughout the entire thickness of the stroma and, 3-9years. membrane, and endothelium.
in advanced cases, extend to Descemet's membrane In macular corneal dystrophy, GAGs accumulate in
and the endothelium producing guttae excrescences
and corneal edema. The opacities are typically
~ DIAGNOSIS the endoplasmic reticulum of cells, whereas in
systemic mucopolysaccharidoses, GAGs accumulate
superficial centrally and more posterior peripherally. HISTORY in lysosomal vacuoles.
Compared to other corneal stromal dystrophies Macular corneal dystrophy is an autosomal GAGs stain with Aldan blue, Hale colloidal iron,
(granular and lattice), macular corneal dystrophy recessive, progressive, bilateral, noninflammatory metachromatic dyes. and PAS.
is: condition characterized by multiple opacifications Electron microscopy shows that the GAGs stain
-the least common with intervening haze within the corneal stroma. positively in keratocytes and endothelial cells. They
- has reduced vision at an earlier age Presents with corneal clouding by ages 3-9 years also stain positively in the extracellular matrix
-has thinner central corneal thickness in the early Symptoms include: Progressive vision loss (usually fibrillogranular material.
stages of the disease severe by the second to third decade), glare, Immunoreactivity of an antibody specific for sulfate
- has no clear areas between opacities photophobia, recurrent erosions. epitopes on antigenic keratan sulfate (Agi<S)
- extends to the peripheral cornea Possible history for consanguinity in parents delineates the three variants of macular corneal
- requires corneal transplantation at an earlier age dystrophy. Clinical presentation is similar between
- has the lowest frequency for corneal transplant PHYSICAL EXAM the three types (2)
replacement; however, recurrence of the opacities Full ophthalmic examination including measurement -Type 1
from macular dystrophy can still occur in the of intraocular pressure and dilated fundus o Agi<S nonreactive to cornea and serum
transplant (1 ). examination -Type 1 A
Symptoms include: progressive vision loss (usually BScan ultrasound to rule out posterior segment o Agi<S reactive to keratocytes
severe by second to third decade), glare, pathology if unable to visualize secondary to corneal o Agi<S nonreactive to extracellular matrix and
photophobia, recurrent erosions. opacification serum
Ultrasound pachymetry to measure central corneal -Type 2
EPIDEMIOLOGY thickness o AgKS reactive to cornea and serum
lnddence/Prevalence Specular microscopy to measure endothelial cell
Uncommon, no reports in literature counts if possible DIFFERENTIAL DIAGNOSIS
Granular corneal dystrophy
RISK FACTORS Slit-lamp examination shows:
Consanguinity (2) - Focal, gray-white opacities that are ill-{jefined and Schnyder's crystalline corneal dystrophy (SCCD)
extend to the peripheral cornea Avellino corneal dystrophy
Genetics lattice corneal dystrophy
- Opacities can present throughout the entire
Autosomal Recessive
thickness of the stroma and, in advanced cases,
Genetic locus: 16q22
extend to Descemet's membrane and the
Gene: Carbohydrate sulfotransferase 6 endothelium, producing guttae excrescences and
gene---CHST6 (3,4) corneal edema.
PATHOPHYSIOLOGY -The opacities are typically superficial centrally and
The opacities are glycosaminoglycans (GAGs or more posterior peripherally.
mucopolysaccharides) that accumulate -There are no clear areas between opacities.
intracellularly and extracellularly in the corneal -Opacities extend to the peripheral cornea.
stroma, Descemet's membrane, and endothelium.
In macular corneal dystrophy, GAGs accumulate in
the endoplasmic reticulum of cells, whereas in
systemic mucopolysaccharidoses, GAGs accumulate
in lysosomal vacuoles.
410
MACUlAR CORNEAL DYSTROPHY
3. Weiss JS, Moiler HU. Lisch W. e1 al. The IC3D

. TREATMENT ONGOING CARE dasslflcatlon of the corneal dystrophies. Comea
2008;27(Suppl 2):S19-S20.
MEDICATION FOLLOW-UP RECOMMENDATIONS 4. Klintworth GK. Smith CF, Bowling BL CHST6
Artificial wars for reament erosions. No Periodic follow-up to monitor status of opacities and mutations in North American subjects with macular
contra Indications. vision corneal dystrophy: Acomprehensive molecular
Topical hypertonic saline (5%) drops (1 drop q.l.d) htient NlonitDring genetic review. Mol V'15 2006;12:159-176.
and ointment (q.h .s). No contraindications. Timing of outpatient follow-up Is dependent on 5. Szentm~ry N, Seltz B, L..angenbucher A.. et aI.
severity of disease. Histologic and ultr.utructural changes in corneas
- Patients who are stable can be followed every with granular and macular dystrophy after excimer
General MeasUI'eS 6-12 months. laser photntherapeutic kellllectomy. Cornea
Tinted contact lenses to reduce photophobia - Patients with recurrent erosions should be 2006;25:257-263.
Pressure patch of ~ tD aIlow heaIing of epithelial followed every 1-7 days. until healed.
dfiect - Patients with pressure patch should be seen every
Ther.~peutic contact lenses for recurrent corneal 24-48 hours. ADDITIONAL READING
erosions with topical antibiotic coverage (I drop
q.i.d.) PATIENT EDUCAnON De Sousa LJI, Mannis MJ. The stromal dystrophies.
Patients should be advised to seek medica Iattention In: Krachmer JH, Mannis MJ, Holland EJ (eds).
Risks of corneal Infection possible with patching and
immediately if there are any symptoms of pain, Cornea. 2nd ed. Philadelphia, PA: Elsevier Mosby,
contilct lens use. Patient requires frequent follow-up
acute visual loss, redness, purulent discharge, or 2005;907-927.
until healed.
severe photnphobia.
wuas for Rafamll As the disease is progressive, patients may be
Worsening vision advised a surgical procedure {PTX or corneal . CODES
Nonheall ng epithelia Idmcts transplantation) if there is significant visual loss.
SURGERY/OTHER PROCEDURES PROGNOSIS ICD9
Phototherapeutic keratectomy (PTK): Patients have progressive vision loss (usually severe by 371.55 Macular corneal dystrophy
-Early cruet disease with anterior stromal opacities second to third decade), glare. photnphobia, and
- Treatment of reoJrrent erosions (5) recurrent erosions.
Keratoplasty (corneal transplantation) for more
CLINICAL PEARLS
COMPUCAnONS
posterior stromal opacities leading to significant Never prescribe topical anesthetics for patients with
visual loss Progressive vision loss with glare, photophobia. and
recurrent erosions pain secondary to recurrent erosions.
- Lamellar keratoplasty (LK) Never patch contact lens wearers.
- Deep anterior lamellar keratoplasty (DAL.K) Despite successful treatment with PTK and/or
corneal transplantation, recurrences can still occur. Patients treated with a patch or therapeutic contact
o In cases wlltlout opacities In Descemet's
lens for recurrent erosions must be followed dosely
membrane or endothelium
o DALK: has a reduced risk of endothelial rejection
due to increased risk for infection.
of the corneal tr.~nsplant
REFERENCES Campa red to other corneal stromal dystroph les
- Full-thickness penetrating lcer.~toplasty (PKP) (granular and lattice), marular requires corneal
1. Marmn AS. Cohen EJ, Rapuano CJ, L.aibson PR. transplantation at an earlier age, but has the lowest
IN-PAnENT CONSIDERATIONS Recurrence of corneal stromal dystrophies after frequency for corneal tr.~nsplant replacement due to
penetrating keratoplasty. Cornea 2003;22:19-21. recurrence. However, recurrence of "the opacities
Dischalf18 Criteria
Risks of corneal Infection possible with patching and 2. Pandrowala H, Bansa IA, Vemugantl GK. Rao GN. from macular dystrophy can still occur In the
contact lens use Frequency, distribution, and outcome of transplant.
keratoplasty for corneal dystrophies at a tertiary eye
Patierrts with recurrent erosions should be followed care center in South India. Cornea 2004;23:
closely until the epithelial defect has healed.
541-546.
I
411
MACULAR HOLE
Nicholas G. Anderson
Watzke-AIIen test utilized to differentiate
full-thickness from lamellar hole and other
lesions
DESCRIPTION HISTORY - Macular lens and slit lamp utilized to focus thin
Partial or full-thickness retinal defect in the central Patients notice blurry central vision, beam through central macula. Patients with
macula. metamorphopsia, or a central scotoma in one eye. macular hole will note a break or "compression
Acute or subacute onset in the slit beam.
EPIDEMIOLOGY - Symptoms often first noted when fellow eye is
Incidence incidentally covered. DIAGNOSTIC TESTS & INTERPRETATION
7.8--8.7 cases/100,000 persons/year History of trauma may be elicited. Lab
Peak incidence in seventh decade of life laboratory testing not indicated
PHYSICAL EXAM
Prevalence Visual acuity ranges from 20/2 5to 20/400 Imaging
0.02-0.8% depending on the size and stage of hole. Optical coherence tomography (ocn
Women affected more than men -Average acuity is 20/200 for a full-thickness - Shows full thickness defect involving the macula.
Typically affects patients over age 55 years macular hole. - May show vitreoretinal adhesion
-A pseudo~perculum may be visible
RISK FACTORS Diagnosis primarily based on biomicroscopic
Recent trauma examination Diagnostic Procedures/Other
- Hand-held indirect lens or fundus contact lens laser aiming beam test
PATHOPHYSIOLOGY -Typically dark. round defect noted in central fovea - 50-micron laser aiming beam focused in center of
Vitreoretinal traction contributes to macular hole - Small neurosensory detachment may be present lesion. Patients with full-thickness macular hole
formation. as a fluid cuff" surrounding the hole. will be unable to see the spot. whereas patients
EnOLOGY - Yellow-white dots may be present at the level of with other lesions typically are able to see the
Most macular holes are idiopathic retinal pigment epithelium. spot.
Trauma may also cause a macular hole - Pseudo-operculum may be visible overlying hole Pathological Findings
Biomicroscopic (Gass) classification (1)IC] Surgical specimens are typically not obtained.
- Stage 1: Impending hole
o Central yellow spot (Stage 1-A} or yellow ring DIFFERENTIAL DIAGNOSIS
(Stage 1-B) with loss of foveolar depression Epiretinal membrane with pseudohole
-Stage 2: Small (<400 micron) full-thickness defect Cystoid macular edema
visible in the fovea Macular cyst
-Stage 3: large (>400 micron) full-thickness defect lamellar macular hole
- Stage 4: Fu 11-thickness defect with posterior Pigment epithelial detachment
vitreous detachment present Central serous retinopathy
Vitreomacu lar traction
412
MACULAR HOLE
REFERENCES
1. Gass JD. Reappraisal al blomlcroscoplc
MEDICATION FOLLOW-UP RECOMMENDATIONS dassification of stages of developmental a macular
No medications indicated o Referral to a vitreoretinal surgeon is indicated. hole. Am J Ophlha/mo/ 1995;119:752-759.
o Routine postoperative examinations on 2. Kelly NE, Wendel RT. V'rtreous surgery for idiopathic
ADDITIONAL TREATMENT postoperative day t, t week. 2-3 weeks. and macular holes. Results of a pilot study. Arch
Issues for Rmm~l 6-12 weeks after surgery. Ophtha/mo/ 1991;109:654-659.
RefeiTill to vitreoreti nal surgeon indicatl!d. 3. Christensen UC, Kroyer K. Sander B, et al. Value of
PATIENT EDUCAnON
COMPLEMENTARY & ALTERNATIVE Fellow eye develops a macular hole in 5-20% internal limiting membrane peeling in surgery for
THERAPIES - Educate patient to monitor symptoms in rellow eye idiopathic macular hole stage 2 and 3: A
None Indicated. o Educate patient on signs and symptoms al retinal
randomised dinicaI trial. Br 1 O{lllha/mo/
tear and detachment postoperatively and need for 2009;93:1 005-1 Ot5.
Surgery is the only sua:essfultreatment option. urgent eva luatlon If symptoms develop. 4. Kumagai K. Furukawa M, Og!no N, et al. Long-term
outcomes of internal limiting membrane peeling
Pars plana vitrectomy with gas tamponade (2)[Cl PROGNOSIS with and without indocyanine green in macular
- InternaI limiting membrane peeling in many o Hole closure rates >90% with surgery (3)[8], (4)[C] hole surgery. Retina 2006;26:613-617.
cases (3)[8I
o Postoperative visual acuity variable but can be good
Non-emergent or urgent, but surgery typically with successful hole dosure
performed within 1-2 months al diagnosis . CODES
Extensive postoperative face-dawn positioning, COMPUCAnONS
lasting several days to weeks, is usually required. o Surgical complications ICD9
Subsequent cataract extraction may be required In - Cataract (common) 362.54 Macular cyst. hole, or pseudohole al retina
phakic patients. - Retinal tear or detachment (uncommon)
Macular hole associated retinal detachment (rare)
IN-PAnENT CONSIDERATIONS CLINICAL PEARLS
Outpatient management Ind lcated. Macular pseudohole can often be differentiated
from macular hole by a negative Watzke-AIIen sign
and relatively good visual acuity.
Patients with suspected macular hole should be
referred to a vltreored nal surgeon for evaluation and
consideration of surgery.
o V'ISual prognosis variable but often good with limely
surgeI)'.
I
413
MAUGNANT GlAUCOMA
Anand V. Mantravadi
~ BASICS ETIOLOGY
The exact initiating event is not known but appears
strongly related to an abnormal interaction between
Anterior-segment optical coherence tomography
(AS-OCT): Can noninvasively demonstrate anterior
DESCRIPTION the ciliary processes, the lens, and the anterior chamber angle structures and quantitatively assess
An uncommon form of secondary glaucoma vitreous face, seemingly induced by postoperative the anterior chamber angle
occurring post intraocular surgery characterized by a anterior chamber decompression leading to an laser iridotomy: Must be performed if not already
flat or shallow anterior chamber, absence of anterior shift in the lens-iris diaphragm and present to diagnostically exclude pupillary block,
pupillary block, and elevated intraocular pressure. diversion of aqueous into the vitreous cavity (3). and therapeutically relieve block if present
Expansion in vitreous volume due to sequestration Smaller/hyperopic eyes- with tendency toward Fluorescein injection through peripheral vein, with
of aqueous in the posterior segment with resultant angle closure glaucoma, have correspondingly visualization of fluorescein-tinged aqueous fluid
anterior shift in the lens iris diaphragm. smaller anterior hyaloid surface area, and less space flowing posteriorly shortly thereafter can confirm
"Malignant glaucoma" -named by Von Graefe in between the ciliary processes and the anterior diagnosis
1869- refers to the likelihood that this progressive hyaloid. Consequentially, if a shift in the lens-iris
condition will not improve spontaneously. Pathological Findings
diaphragm occurs abruptly, contact between the
-Synonyms: Aqueous misdirection syndrome, ciliary Smaller eyes have thicker sclera with a reduced
ciliary processes and anterior hyaloid occurs.
block glaucoma, and dliovitreal block. ability to remove suprachoroidal fluid.
Aqueous is then disproportionately circulated
posteriorly with resultant vitreous volume expansion Malignant glaucoma has been proposed to involve a
EPIDEMIOLOGY pathologic behavior of the vitreous gel with poor
and further flattening of the anterior chamber with
Incidence elevation in intraocular pressure. vitreous conductivity of fluid (4).
2-4% in eyes undergoing glaucoma filtration
COMMONLY ASSOCIATED CONDITIONS DIFFERENTIAL DIAGNOSIS
surgery for angle closure glaucoma (1)
Chronic angle closure Pupillary block
Can occur at any time following surgery -Will typically demonstrate elevated lOP, preserved
No established racial, sexual predilection Hyperopia
central anterior chamber depth, closed angle, and
Nanophthalmos iris bomM of variable degrees. If patency of
RISK FACTORS
Small eyes with small anterior hyaloid surface iridotomy is doubted, then another should be
Filtering surgery in eye with history of angle closure
such as shallow chamber and peripheral anterior
~ DIAGNOSIS performed to exclude pupillary blade
Choroidal effusion
synechia HISTORY - Serous: Gray-light brown choroidal elevation
History of malignant glaucoma in fellow eye Malignant glaucoma can present any time after any directly visualized or observed with B-scan
intraocular surgery in phakic, pseudophakic:. or ultrasound. Typically associated with low lOP, and
Genetics aphakic eyes, but most typically arises in eyes with a shallow anterior chamber. Must consider
Unknown for malignant glaucoma - but smaller eyes history of angle closure undergoing glaucoma overfiltration or wound leak if following filtration
with angle closure have predisposition to development filtration surgery. It has been reported rarely after laser surgery.
of malignant glaucoma, and eye size has a genetic iridotomy and miotic administration. - Hemorrhagic: Dark-brown or red effusion directly
basis with many genes associated with angle closure visualized or observed with B-scan ultrasound.
(2). PHYSICAL EXAM
Typically associated with uniform anterior
Shallow anterior chamber: Uniform decrease in
GENERAL PREVENTION chamber shallowing or flattening, increased lOP.
anterior chamber depth centrally and peripherally.
Involves preoperative identification of high risk. eyes- and frequently preceded by pain.
Absence of pupillary block.: Reflected by presence of
small eyes with a history of angle closure or that of Overfiltration
patent iridotomyliridectomy.
malignant glaucoma. Shallow anterior chamber associated with low lOP. If
Elevated intraocular pressure (lOP)
low lOP is accompanied by high/diffuse bleb
PATHOPHYSIOLOGY - lOP may not be present, or only modestly elevated
morphology: likely overfiltration. If low lOP is
Under homeostatic conditions, aqueous volume in the early stages of ciliary block in the presence
accompanied by lowtflat bleb: Must exclude bleb
flows predominantly anteriorly exiting through of a filtering procedure.
leak.
trabecular and uveoscleral outflow pathways and, to Absence of simulating conditions causing posterior
a lesser degree, aqueous circulates posteriorly into Lens related angle closure: With anterior shift of
volume expansion: Choroidal effusion, hemorrhage:
and around the vitreous body. lens-iris diaphragm and resultant angle closure.
As visualized with indirect ophthalmoscopy.
- Phacomorphic glaucoma: Anterior shift due to
Under pathologic conditions, a shift to greater
DIAGNOSTIC TESTS & INTERPRETATION intumescent lens
aqueous flow posteriorly occurs incited by sudden
Lab - Lens dislocation: Anterior shift due to zonular
anterior chamber decompression (i.e., anterior
Slit-lamp exam may reveal elevated bleb initially with laxity as in pseudoexfoliation or other predisposing
chamber entry, overfiltration). When combined with
gradual flattening and disappearance upon further condition (i.e., Marfan's, trauma, etc.)
a fundamentally decreased rate of aqueous
exchange from the ciliary processes both across the posterior misdirection and sequestration of aqueous. Infusion misdirection syndrome
anterior hyaloid and through the vitreous gel, the Gonioscopy may reveal closed angle or obscured - Intraoperative condition due to misdirection of
result is vitreous volume expansion through aqueous angle structures. and possibly visualization through irrigating fluid posteriorly, potentially through
sequestration, and an anterior shift of the lens-iris the iridotomy of ciliary processes pushed forward. iridotomy or zonular dehiscence -expanding
diaphragm axis. The anterior chamber space is vitreous volume and resultant anterior shift of
Imaging iris/posterior capsule.
consequentially shallowed or flattened, further Ultrasound biomicroscopy (UBM) can demonstrate
obstructing aqueous outflow through angle closure irido-corneal contact, decreased anterior chamber
resulting in elevated lOP. depth, forward displacement of the lens-iris
diaphragm, and ciliary processes.
B-mode ultrasound can confirm absence of posterior
space-occupying mechanism such as choroidal
hemorrhage or effusion if visualization is poor with
indirect ophthalmoscopy.
414
MALIGNANT GLAUCOMA

. TREATMENT lnftlel Stablllzetlon
1. Luntz MH. Rosenblatt M. Malignant glaucoma.
Medical consultation and consideration for adm lsslon
MEDICATION is necessary if medical comorbidities such as candiac. Surv Ophthalmo/ 1987;32:73-93.
Cycloplegia/mydriasis: Widens dliary body diamell!r respiratory, renal conditions are present. 2. He M, Wang D. Zheng Y. et al. Heritability of
through contraction of dllator muscle of!~s anterior chamber depth as an intermediate
Increasing diffusional area for aqueous; pulls lens
Admission Crltetfe phenotype of angle-dosure In Chinese: The
HospitaI admission may be required for monitoring Guangzhou Twin Eye Study. Invest Ophtha/mo/ Yls
posteriorly by tightening zanules through
during parenteral osmotic administration, and/or pain Sd 2008;49:81-86.
unopposed action of longitudinal muscle with
control, or urgent surgical intervention if warranted.
circular musde paralysis. 3. Ruben s. Tsai J, Hitchings R. Malignant glaucoma
lOP rna nagement IV Fluids and its rna nagement. Br l of Ophthalmo/
-Aqueous suppression: Beta-blockers. carbonic Osmatics agents 1997;81 :163-167.
anhydrase inhibitors. and alpha-agonist o Intravenous carbonic anhydrase inhibitor can be 4. Quigley H. Angle closure glaucoma - slmpier
- Osmotic agents (Mannitol, lsosorbide): Decrease administered for aqueous suppression. answers to complex mechanlsms: LXVI EctfJard
vitreous volume by increasing osmotic grc~d ient Nursing Jackson Memorial Lecture. Am J Ophthalmo/
between blood and ocular fluids causing fluid to Adherence to parenl!!ral medication administration 2009;148:657~69.
be drawn intrawscular guidelines. and topical medication schedule 5. Epstein D. Steiert RF. Puliafrto CA. Nd:YAG laser
Geriatric Considentfions administration with appropriate monitoring during therapy to the anterior hyaloid In apha klc
Osmotics are relatively contraindical!!d in patients with therapy. malignant (dllovltreal block} glaucoma.AmJ
renal or candiovasaJiar compromise. Signs of atropine Ophthalmo/ 1984;98:137-143.
Discharp Criteria
tnxicity should be monitored in elderly patients. Controlled pain, stabilization/improvement in 6. Byrnes BA. Leen MM, Wong TP. Benson WE.
condition. Vitrectomy for dIiary block (malignant) glaumma.
Pediatric Conside1'8fions Ophthalmology 1995;102: 1308-1311.
AI pha agonlsts have potentially serious adverse effects
in children and are contraindicated in children ONGOING CARE
< 2 years old. ADDI110NAL READING
Plwgnency Conslderetlons Degree and duration of flat anl!!rior chambe~ level of Simmons RJ, Thomas N. Malignant glaucoma. In:
Aqueous suppressants and osmotic agents are lOP. and degree of patient comfort are all careful~ Ritch R. Shields MB, Krupln T (eds). The gaucomas.
classified as dass Cin pregnancy - with letaI risk monitored with urgency and frequency of follow-t~p StLouis: CV Mosby, 1989:1251-1263.
revealed in animaI studies, but nat established or based on response to intervention and progress. o Spaeth, GL. Wilson R. Aqueous misdirection
studied in humans. (Malignant or Ciliary Blodr. Glaucoma). In: Eid TM,
Patient NlonitGring Spaeth GL (eds). The G/a!JC()IM. Philadelphia:
ADDITIONAL TREATMENT Long term surveillance for reoccurrence is required
with careful monitoring upon cessation of LYNI, 2000:140-145.
Genelal Measures
Miotics Clllltraindicated cydoplegia.
If attack broken medically (chamber deepening, o If any intlllocular surgery is required in fellow eye, Q S11 Also (Tapic, Algorithm, Electronic
nomnalization of lOP}, can taper off hyperosmotics, precautionary measures taken to avoid sudden ttt3 Media El1111ntl
and aqueous suppressants with long-term use of anterior chamber decompression or overflltration,
and consideliltion should be given for Acknowledgment (Tasman w. Jaeger EA. The Wills
cydoplegialmydriasis due to risks of reoccurrence Eye Hospital Atlas of Clinical Ophthalmology,
pre/postoperative cydoplegialmydriasis.
Issues for Refetral Philadelphia: Lippincott Williams and Wilkins. 2001.)
Patients nat adequately responding to medicaI PATIENT EDUCATION
therc~py require surgical inl!!rvention. Risks of mallgnant glaucoma with surgery In fellow
Response may develop days after initiating medical eye, and risks of reOCOJrrence in operated eye . CODES
thelllpy. should be discussed with patient.
Adherence to prescribed medical therapy. ICD!f
particularly long temn cydoplegia should be 365.83 Aqueous misdirection
Nd: YAG laser disruption of anterior hyaloid face: emphasized.
Can be attempl!!d in typically aphakic or
pseudophakic patients not responding to medical PROGNOSIS
thelllpy (5)[C]. Response can be observed as o Approximal!!ly SO% of cases will respond medically CLINICAL PEARLS
progressive deepening of anterior dlamber over within 5 days. o Rare postoperative condition with uniform
hours--<lays. If view Is precluded by posterior capsule Surgical success ral!!s are higher in pseudophakic shallowing of anterior chambe~ rise in lOP likely due
opacification, capsulotomy should be undertaken eyes as compared to phaldc eyes (6)]C]. to abnormal anatomical relationship between lens.
prior to vitreous face disruption. zan ules. anterior hyaloid face, and ciliary body.
Surgical vitrectorny with openingldisruption of COMPUCATlONS
Reoccurrence/persisl!!nce o Medical and surgical management targeted towards
anterior hyaloid face, removal of suffident vitreous control of lOP. chamber depth, and reestablish
o Corneal decompensation
to disrupt pockets of aqueous, with uIt!mate goal to nomnal balance of aqueous circulation.
create unicameral eye- with a direct communication o Cataract progression
(i laucomatoos progression
Fellow is at high risk of developing rna Iignant
between the anmrior and posterior dlamber (6)[C].
I
VItreous traction whh retinal tea r/delilch ment glaucoma if surgery is perfomned.
415
MARFAN'S SYNDROME
Caesar Luo

Cardiac manifestations (80%)
-Aortic root dilatation, dissecting aneurysm, mitral
Lab
Although mutation in FBN1 is known, molecular
DESCRIPTION valve prolapse testing is neither sensitive nor specific (3)[CI
Autosomal dominant connective tissue disorder of the Musculoskeletal manifestations Clinical and radiologic diagnosis according to Ghent
fibrillin gene that affects the cardiovascular, -Tall stature, scoliosis or kyphoscoliosis, chest criteria
musculoskeletal, and ophthalmic systems. deformities (pectus excavatum), generalized joint
hypermobility
Imaging
EPIDEMIOLOGY Echocardiography
Prevalence Pulmonary manifestations
- Spontaneous pneumothorax, apical blebs MRI orCT
4-6 in 10,000 individuals 8-scan if poorly dilated pupils with suspected retinal
Affects both genders equally Neurosurgical manifestations
- Dural ectasia detachment
25% sporadic mutation
RISK FACTORS
Family history ~ DIAGNOSIS

Ectopia Lentis
Trauma
50% risk in each pregnancy HISTORY Buphthalmos
Genetics Family history Aniridia
Autosomal dominant 65-75% of cases Focused history on cardiac, musculoskeletal, Ectopia lentis et pupillae
Defect of fibrillin, on 15q21 (FB Nl) pulmonary, integumentary symptoms Familial ectopia lentis
Tissue growth factor-,8 receptor 2 on 3p24.2-25 PHYSICAL EXAM Syphilis
High penetrance with variable manifestations Ghent diagnostic criteria (1996) Weill-Marchesani syndrome
PATHOPHYSIOLOGY - Major criteria in 1 organ system and minor criteria Sulfite oxidase deficiency
Fibrillin is essential component of microfibril of another with positive family history or positive Xanthine oxidase deficiency
assembly in extracellular matrix genetic testing Molybdenum cofactor deficiency
-With no family history, major criteria in 2 organ Hyperlysinemia
Structural function in tissues
systems with minor in third required (2)[CI
Fibril lin found in ciliary zonule, lens capsule, Methylenetetrahydrofolate reductase deficiency
Ocular examination
endothelium of Schlemm's canal, sclera, choroid,
Bruch's membrane, lamina cribrosa, and corneal
epithelium
May explain ectopia lentis, axial myopia, glaucoma.
- Corneal ectasia, often flat cornea
- Ectopia lentis classically superotemporal, however.
all meridians have been reported. Seen in
50--80% of patients.
rJ
MEDICATION
TREATMENT
corneal ectasia, and retinal complications - Poorly dilating pupils due to hypoplastic iris or First Line
Most common cause of nontraumatic ectopia lentis ciliary muscle ,8-blockers (3)[CI
(1)[BI - Earlier onset nuclear sclerosis (1 0--20 years earlier) Has been shown to decrease event rates, but no
- Central/posterior vitreous liquefaction effect on mortality
ETIOLOGY -Axial myopia
Defect in fibrillin or TFG,8R2 or spontaneous - Retinal detachment common (B--2 5.6%), often in Second Line
mutation. younger age (mean 22 years). Common in ACE inhibitors or ARB
conjunction with ectopia lentis secondary to Currently experimental
traction of unstable lens. Also common after lens ADDITIONAL TREATMENT
extraction, although improved detachment rate
Issues for Refe"al
with pars plana lensectomy versus anterior
Cardiology, Pulmonary, Neurosurgery, Dermatology,
approach.
and Ophthalmology/Retinal Surgery.
416
MARFAN'S SYNDROME

Cataract-Pars plana lensectomy wtth vltrectomy ONGOING CARE
preferred 1. Remulla JF, Tolentino Fl. Re1inal de1ac:hment in
Retinal detad'lment FOLLOW-UP RECOMMENDATIONS Marfan's syndrome./nt Ophth C/2001;41 (4):
- May need pupil stretdling techniques o Regular monitoring of valvular function and aortic 235-240.
-Scleral buclde-mnsider wiltl minimal lens diame1er wiltl echocardiog raphy 2. De Paepe A, Devereux RB, Dietz HC, et al. Revised
displaCI!ment wiltl well-dilated pupil o Elective repair of moderately regurgitant mitral valve dlagnostlc c~te~a for ltle Marfan syndrome. Am J
- Pars plana vltrectomy-<Onslcler with severe lens or moderately dilated aortic root Med Genet 1996;62:417-426.
displacement Additional encird ing band may o Low dynamic activity with avoidance of bodily 3. Kl!a ne MG, Pyeritz RE. Medical management of
decrease ris~ of redetachment mllisions during eJlerdse Marfan syndrome. Circulation 2008;117:
-Must examine fellow eye, as ris~ of bilateral o Regular ophthalmic exams 2802-2813.
detachment is high 4. GoIand S, Barrakat M, Khatri N, et al. Pregnancy in
htient Monitoring
- Reported success rates for retinal reattachment is Echocardlography Marfan syndrome. Cardin Rev 2009;17:253-262.
71~9% (2)[CI.
Pregnancy Consideratians PATIENT EDUCATION
EJlerdse ADDITIONAL READING
Maternal risk
o Pregnancy
Increased ris~ of aortic dissection, with higher risk. of Judge DP, Dietz HC. Marfan's syndrome. Lancet
o Gene1ic counseling
maternal and fetal morllllity 2005;366:1965-1976.
o Re11nal detachment warning symptoms (flashing
Progressive aortic dilatation lights, floaters. curta In over vision)
Most common complications in second and third
trimester PROGNOSIS . CODES
o With modem cardioltloradc surgical techniques,
Overall mmplication rate in pregnancy is low, and average Iife expectancy 70 years (3)[Cl ICD9
relatively safe in women with aortic root diameter
o VIsual prognosis va~ed and Is dependent on degree o 367. 1 Myopia
<4.0cm of Involvement In regards to amblyopia, ectopia 743.37 Congen itaI ectopic lens
Consider prophylactic surgeI)' if aortic dilatation lentis, retinal detachment 759.82 Marfan syndrome
exceeds 4.7 em (<4.0 em carries 10% ris~ of
dissection). COMPUCAllONS
Visual loss
Consider prophylactic J1 -bloc~r with overall CLINICAL PEARLS
favorable side effect profile on the fe1us.
Vaginal delivery safe In pat!ems wlltl mInImal aortic lens subIUJlilion with Marfan's is classically
dilatation (< 4. 0 em), but consider C-section in superotemporal, versus inferior displacement in
higher risk moltlers (>4.0 em) as hemodynamic homocystinuria.
instability during labor/delivel}' increases risk of Mutation in fibrillin gene
dissection. Cardiac surgery can follow, or conwrrent 25% sporadIt mutation rate
wtltl C-sectlon. Retinal detachment is common.
Fetal risk
Variable penetrance-mildly affected moltler may
have severely affected fetus.
Development of aortic dissection carries substantial
~sk..
Higher rate of obstetric complications (40%)

(4)[8]
I
417
MEESMANN'S CORNEAL DYSTROPHY
Arvind Saini
Anthony Aldave
~ BASICS
1<3 and 1<12 proteins form meshwork filaments Multiple tiny, intraepithelial, microcystic, bubble-like
found in the epithelial cell cytoplasm. lesions and dot-like opacities (5)
DESCRIPTION The meshwork maintains epithelial integrity, Usually bilateral and symmetric
Meesmann's corneal dystrophy (MCD) is an provides resistance to mechanical stress (3). Can be unilateral
epithelial dystrophy Pain results from cyst rupture. Surrounding epithelium is usually clear
Occurs early in life Cysts appear early in life, increase with age. Usually cysts are most prevalent in the
Also called Juvenile epithelial dystrophy Blurry vision evolves from increased cyst formation interpalpebral zone or involve the entire epithelium,
-Autosomal dominant inheritance and corneal surface irregularity. extending to the corneal limbus.
- Characterized by epithelial microcysts Scarring may develop after repeat erosions. Cysts may involve only the periphery, usually with
- Cysts contain degenerated cell products
ETIOLOGY spared central cornea.
EPIDEMIOLOGY Genetic inheritance Punctate epithelial erosions, mild injection
Incidence Central scarring, subepithelial serpiginous lines and
There are no incidence values. COMMONLY ASSOCIATED CONDITIONS opacities in advanced cases
- Rare; patients are often misdiagnosed Other corneal dystrophies may coexist (4).
Prevalence
There are no prevalence values

Patients are often misdiagnosed
~ DIAGNOSIS Lab
Blood or saliva can be tollected and sent for screening
of KRB and KRT 12 to differentiate from conditions
First described in Germany HISTORY
with similar phenotypes.
Usually asymptomatic or have mild symptoms
Has now been described worldwide Imaging
May have episodes of photophobia, tearing,
RISK FACTORS blepharospasm, foreign body sensation, and mild Indirect slit-lamp ilium ination from the iris reveals a
Family History (affected parent). pain from erosions due to cyst rupture dust-like pattern.
Genetia Significant visual loss is uncommon Slit-lamp retroillumination bubble-like cysts
Autosomal dominant inheritance, intomplete Pediatric Considerations Diagnostic Procedures/Other
penetrance Can be a cause of corneal erosions in children. Histology and electron microscopy are useful with
Mutation in KRT3 (1) (chromosome 12q13) and tissue samples from corneal biopsy or
KRT12 (chromosome 17q 12) (2) genes lamellar/penetrating keratoplasty.
Genes code cornea specific proteins K3, K12 Confocal microscopy for in vivo study (3)
418
MEESMANN'S CORNEAL DYSTROPHY
Pathological Findings 4. Cremona F, Ghosheh FR, L.aibson PR, et al.

lntraeplthellal cysts, 10-70 ~o~m In diameter ONGOING CARE Meesma nn enmeal dystrophy associated with
CystS are fllled with PAS-posldve granules, (5) and epithelial basemem membrane and poste~or
fibrogranular material termed "peaJiiar substance. FOLLOW-UP RECOMMENDATIONS polymorphous cornea dystrophies. Cornea
Epithelial basement membrane is irregular, showing Routine annual examination unless othl!r CDnditions 2008;27:374-377.
thidcen ing and multilaminarity. exist. or if the patient is symptomatic 5. Fine BS, Yanoff M. Pitts E, et aI. Meesmann's
Same cases have thinning of thl! cornea. htient NlonitDring epithelial dystrophy of the romea. Am J
Advanced disease shows disorganized epithelium If patients have frequent erosions, care shouId be Ophthalma/ 1977;83:633-642.
with loss of cell polarity. taken to IImIt erosions. 6. Yeung JYT, Hodge QG. Recurrent Meesmann's
corneal dystrophy: Treatment with keratectomy and
DIFFERENTlAL DIAGNOSIS PROGNOSIS
mitomycin C. Can J Opl!thalma/ 2009;44:103-1 04.
Epithelial basement membrane dystrophy Good: most patients are as)mptomatic or have mild
Bleb-1 ike variant of EBMD discomfort and vision disturbances.
Usch corneal dystrophy COMPUCATlONS ADDITIONAL READING
Umbal stem cell deficiency There is a risk for corneaI infection and scarring with
Krach mer JH, Mannis MJ, Holland EJ. (eds). Cornea.
Epidermolysis bullosa repeat erosions.
Cornea and External Disease: Clinical Diagnosis and
Management II. Mosby: St Louis, 1997.
. TREATMENT REFERENCES
1. Irvine AD, Carden LD, Swensson 0, et al. Mutations
MEDICATION
in romea-specific keratin K3 or Kt 2 genes cause
. CODES
First Line Meesmann's corneal dystrophy. Nature Genet
Most do nat require treatment t 997;16:184-187. ICD9
If symptomatic. frequent lubrication with artifidal 371.51 Juvenile epithelial corneal dystrophy
2. lrvtne AD, Coleman CM, Moore JE. et al. A novel
tears or ointments for disromfort mutation in KRr12 associated with Meesmann's
SecondUne epithelial corneaI dystrophy. Br J Ophthalma/ CLINICAL PEARLS
Bandage soft contact lenses. 2002;86:729-732.
3. Patel DV, Grupd1eva CN, McGhee CN. Imaging the Meesmann's corneal dystrophy Is often an
ALERT asymptomatic condition and may be an incidental
mlcrostructuraI abnormalities of Meesmann corneal
Patients and ophthalmologists must be aware of the dystrophy by In 'Jtvo confocal mlcrosropy. Comea finding on examination.
Increased ~sk for lnfecllous keradds. 2005;24:~9-673. There is a strong family pattern of inheritance.
Management should be directed at symptoms and
SURGERY/OTHER PROCEDURES not signs of the disease an exam.
Phototherapeutlc keratectomy
Epithelial debridement
Manual superficial keratectomy
l'enetrating ker.rtoplasty in advanced disease
Mitomydn Cmay be used after keratectomy (6), but
extreme care is required with mitomydn use.
I
419
METASTATIC TUMORS TO THE EYE AND ADNEXA
Aparna Ramasubramanian
Carol L. Shields
Orbit metastasis
- Mass effect causing proptosis, globe
displacement, pain, chemosis, and eyelid swelling
DESCRIPTION HISTORY - Soft tissue infiltration- ptosis, restricted
Intraocular metastasis- most common tumor of the Most cases are asymptomatic extraocular movement
eye Blurred vision is the most common presentation - Enophthalmos in scirrhous carcinoma (commonly
Most common site of involvement is choroid (63%) Other features breast and stomach metastasis)
Other sites- iris, ciliary body (6%), vitreous, retina, - Uveal metastasis -pain, scotoma, redness, and - Carcinoid -frequently, orbital metastasis is the
optic disc, eyelid, and orbit (32%) photophobia first sign.
25% of patients have no len own history of cancer. - Orbital metastasis -diplopia, proptosis, pain, o Primary small intestinal carcinoids typically
Primary site remains unknown in 10% ptosis, and visible mass metastasizes to orbit and bronchial carcinoid
Most common primary site - breasts in women and metastasizes to choroid
PHYSICAL EXAM
lungs in men - Pediatric population - metastasis are rare but the
Choroidal metastasis
most likely primary sites are- neuroblastoma,
- Bilaterality in 20-50%
EPIDEMIOLOGY Wilms tumor, Ewing's sarcoma,
- Multifocallesions ~30%
Prevalence - Commonly affects posterior choroid, especially rhabdomyosarcoma
Increasing incidence paralleling improving cancer macula Eyelid metastasis
suNival rates - Usually cream colored lesions -Varied presentation- solital)' or multiple nodules
True incidence unknown in view of poor detection - Orange color in metastasis from bronchial or diffuse lid infiltration
because of advanced cancer stage and carcinoid, renal cell carcinoma, and thyroid cancer. DIAGNOSTIC TESTS & INTERPRETATION
asymptomatic nature of disease -Gray-brown color in melanoma metastasis Initial approach
Postmonem incidence ~10% - Extensive subretinal fluid in active lesions Diagnosis primarily clinical
Estimated prevalence of uveal metastasis - - Leopard skin appearance -due to clumps of CNS imaging of paramount importance because of
2.3-9.2% of all patients with systemic cancer brown pigment coexistent brain metastasis
Estimated prevalence of orbital metastasis- Iris metastasis
2-4.7% of all patients with systemic cancer - Yellow to white single or multiple nodules Imaging
- Other likely features - iridocyclitis, hyphema, and Uveal metastasis
RISK FACTORS - Fluorescein angiography- early hypofluorescence
Risk factor for uveal metastasis - presence of glaucoma
and late leakage
metastatic disease in 2 or more organs Ciliary body metastasis
- Ultrasound -
7Q-90% of patients have metastatic lesion - Solitary sessile or dome shaped
o A-scan - moderate to high internal reflectivity
elsewhere at time of ocular diagnosis - Other features -cataract, iridocyclitis, and
o B-scan -Acoustic solidity
hyphema
Median time from diagnosis of primary cancer to o Rarely mushroom shaped configuration noted
ocular metastasis - 12-55 months, depending on Retinal metastasis o Ultrasound biomicroscopy useful for ciliary body
- Resemble occlusive vasculitis metastasis
the primary cancer site
-Vitreous seeding may be present
Orbital metastasis
PATHOPHYSIOLOGY Vitreous metastasis - CT and MRl primary diagnostic tests - MRl
Choroid has a rich vascular supply and is recognized -Tumor infiltration of vitreous resembling provides better soft tissue resolution. CT
as the tissue with the highest metastatic efficiency lymphoma appropriate for imaging bony lesions (e.g.,
index (measure of metastatic deposits in relation to Optic nerve metastasis
blood flow). Prostatic metastasis)
- Occurs as juxtapapillary spread from choroidal
metastasis or isolated optic nerve involvement Diagnostic Procedures/Other
- Unilateral optic nerve elevation Definitive diagnosis - fine needle aspiration biopsy
Primary cancer sites that promote ocular metastasis
- Significant visual loss observed or open biopsy
(pooled from multiple studies)
- Breast cancer- 40-47% Immunohistochemistry beneficial in select cases to
- Lung cancer- 14-30% diagnose primary cell type
- Gl cancer- 4% Pathological Findings
-Prostate cancer- 1-4% Orbital tissue metastasis rate- bone-fat-muscle
- Melanoma - 5% ratio- 2:2: 1
- Kidney cancer- 2-4% Diagnosis of ocular metastasis consistent with Stage
IV cancer
Work up with oncologist required for restaging
tumor and investigating for other sites of metastasis
420
METASTATIC TUMORS TO TliE m AND ADNEXA
DIFFERENTlAL DIAGNOSIS o Exenteration - for disfiguring orbital mass o Kanthan GL Jayamohan J, Yip D, et al. Management
Choroidal metastasis EyeIID Metastasis af metastatic carclnoma of the uveal tract: An
- Melanoma/nevus Dependent on tumor size, location, extent, and evidence-based analysis. Clln Expetfmenr
-Hemangioma systemic features. Ophtha/mol 2007;35:553-565.
- Os:teoma o Shields JA. Shields Cl, Kiratli H, et aI. Metastatic
o Excisional biopsy - Sma II solitary lesion
-~mphoma rumors to the iris in 40 patients. Am 1 Ophtha/mol
- Inflammatory diseases External beam radiotherapy- for multiple/recurrent I 995;119:422--430.
lesions
Iris metastasis Shields CL. Shields JA. Gross NE. et aI. Survey of 520
- Amelanotic melanoma/nevus Systemic cnemotherapyllm munotherapy - for eyes with uveal metastases. Ophthalmology
-Gr.mulomas extensive systemic metastasis 1997;1 04:1265--1276.
o Palliative care- for terminal me!Bstasis
Orbit/Eyelid metastasis o Shields JA. Shields Cl. Metastatic tumors ID the
- Benign and malignant orbital/eyelid tumorJ o Topicallmiquimod- for tutaneous melanoma
uvea, retina, and optic disc. In: Shields JA. Shields
metastasis CL. eds. Eyelid, Conjunctiva/, and Orbital Tumors. A
fl TREATMENT ADDmONAL TllEATMENT
Gf/IJf/1111 MNSUIB
Textbook andArias, 2nd ed. Philadelphia, PA:
Lippincott. Williams & Wilkins, 2007;727-745.
t68-173.
Uveal Metastasis Treatment of primary tumor and other metastatic foci
o Shields JA. Shields Cl. Metastatic tumors ID the
External beam radiotherapy (Grade Btreatment Additional TIHJrap/ft uvea, retina, and optic disc. In: Shields JA, Shields
remmmendation) Palliative care CL. eds.lfftraocular Tumors. A Textbook and Atlas,
- Dose - 2Q-50 Gy Paln management 2nd ed. Philadelphia, PA: Lippincott, Williams &
- Response- 63-83% COMPLEMENTARY A ALTERNATIVE Wilkins, 2007; 198-227.
-VIsual Improvement- 27-89% THERAPIES Shields CL. Shields JA. Metastatic cancer ID the eye
-Complications- otular surface changes. cataract. o In 3-5% of patients the primary site remains and adnexa. In Tasman WS. Jaeger E, eds. Duane's
and radiation retinopathy Clinical Ophthalmology Vol. 5, Chapter 34,
unknown after workup
Systemic dlemo1herapy/Hormonal therapy Philadelphia, PA: Llpplncon Williams & Wilkins.
Following evaIuatlon of all sites of metastasis,
- Success based on type of primary tumor 2010.
therapeutic (hemotherapy trial can be attempted
- UsefuI in breast/lung cancer
85% of these patients die within 1 year
Plaque radlo1herapy Q S11 Also (Topic, Algorithm, Electronic
- High dose targeted radiation dosage ~ Madia El1111nt)
- UsefuI for solitary cnoroidal metastasis ONGOING CARE
- BenefiCial for recurrent tumor following external www.iighteyecancer.com
beam radiation FOLLOW-UP RECOMMENDATIONS www.malignantmelanomainfo.mm
Proton beam 1herapy o Multidisdplinary mordinated care required
o www.retinoblastomainfo.corn
- Shaner duration of therapy Close monltor1ng for detection of system lc www.eyecancerinfo.mm
-More precise tissue targeting due to minimal metastatic foe!
www.eyecancerbook.mm
scatter Close ophthalmic follow-up for detection of new
www.etrf.org
Local tharapy metastasis, espedalfy in the feliDW eye
- Transpupillary thermotherapy, laser PATIENT EDUCAnON
photocoag ulatlon, photodynam lc tl1erapy Counsel regarding wa mlng eye signs In patients
- Can be used as adjuvant treatment to radiation . CODES
with advanced cancers
- lsola'led reports of successfuI treatment with
o After diagnosis of oaJiar metastasis -careful
intravitreal bevacizu mab - role unknown ICD9
moni!Dring is required ID detect new metastasis in t 98.4 Semndary malign ant neoplasm of other pans
Enuclution both eyes
-Indicated for blind painful due to of nervous system
glaummatous damage PROGNOSIS 198.2 Semndary malignant neoplasm of skin
Orbit Metastasis Median Iile expectancy - 6--9 months
Treatment mnsiderations dependent on systemic Prognosis dependent on type of tumor and extent of
features and life expectancy. metastasis CLINICAL PEARLS
o Favorable prognosis - Breast cancer and carcinoid
External beam radiotherapy - primary treatment o Increasing incidence of ocular metastasis
modality metastasis
High index of suspidon required for diagnosis
- Advantages - decrease tumor size, reduce Early diagnosis and appropriate therapy improves
proptosis, preserve vision ADDITIONAL READING prognosis and visual morbidity.
- Dose - 2()--40 Gy over 2-4 weeks Ocular metastasis is the first pll!Sentation of
-Complications- Cataract, Radiation retinopathy Ahmad SM, Esmaell B. Metastatic Illmars of the malignancy in around 30%.
- Concurrent intraaanial irradiation required for orbit and ocular adnexa. Curr Opin Ophthalmol Choroid is the most mmmon site of metastasis.
brain metastases 20()7;18:4{)3--413.
ExternaI beam radiotherapy Is the treatment of
Systemic chemotherapy- reserved for o Biandotto C, Dem irci H. Shields CL et al. Metastatic
choice In most patients.
chemosensitive rumors like small cell lung cancer tumors ID the eyelid: Repon of 2() cases and review
I
Hormonal therapy - Breast/prostate metastasis of the literature. ArdJ Ophtfla/mo/ 2009;127:
Orbital surgery-debulldng reserved to reduce 999-1()05.
ocular pal n, proptosis, and diplopia
421
MEWDS [MULTIPLE EVANESCENT WHITE DOT SYNDROME]
Mimi Liu
ICG is usually not needed for diagnosis.
ICG angiography usually demonstrates more
DESCRIPTION HISTORY numerous hypofluorescent spots than seen on
Multiple evanescent white dot syndrome (MEWDS) Sudden onset of decreased central vision in one eye fluorescein angiography.
is an idiopathic inflammatory disease ofthe choroid Occasionally it may be bilateral, and may occur
that causes mild to moderate acute vision loss (1 ). asynchronously Diagnostic Procedures/Other
May have central scotoma or photopsias An electroretinogram (ERG) may be abnormal.
It is usually self-limited, with recovery to normal
vision within several weeks without recurrence. May have a history of a recent viral illness DIFFERENTIAL DIAGNOSIS
It is usually unilateral. Acute idiopathic blind spot enlargement
PHYSICAL EXAM
Patients often have mild myopia Acute multifocal posterior pigment epitlleliopathy
EPIDEMIOLOGY (AMPPE)
lnddence There may be a mild afferent papillary defect
Acute macular neuroretinopathy
Affect younger individuals, usually in the second to Patients may have a mild vitreitis
Multifocal choroiditis
fifth decades of life Optic disc edema
Birdshot retinochoroidopathy
90% of patients are female There are ill defined small white lesions in the
posterior pole at the level of the RPEJouter retina Primary intraocular lymphoma may rarely appear
RISK FACTORS similar to MEWDS, especially in patients >50 years
50% of cases are associated with a viral prodrome. Orange foveal granularity
old (5).
Geneffa DIAGNOSTIC TESTS & INTERPRETATION
Possible association with HLA-851 (2). Lab
None usual~ necessary as MEWDS is a clinical
PATHOPHYSIOLOGY
diagnosis.
Unclear.
Imaging
EnOLOGY Initial approach
Unknown Fluorescein angiogram shows ear~
It is presumed to be caused by avirus. hyperfluorescence with late staining in a cluster or
Genetic predisposition combined with an wreath-like pattem around the macula.
environmental trigger may cause tile disease. OCT shows subtle disruptions of photoreceptor
COMMONLY ASSOCIATED CONDITIONS inner and outer segment junction (4).
Acute idiopatllic blind spot enlargement syndrome
(AIBES)-some feel that MEWDS and AIBES (as well as
a number of other "white dot" syndromes are a
spectrum ofthe same disease) (3).
422
MEWDS (MULTIPLE EVANESCENT WHITE DOT SYNDROME)
3. Gass JO. An. acute zonal oca.llt outer retinopathy

. TREATMENT and tlhe white spot syndromes (AZOOR complex) . CODES
specific autoimmune dlse.ases? Am J Ophrha/mo/
MEDICATION 2003;135:380-381. ICD9
OhsE!vation 4. Shah GK, Kleiner RC, Augsburger JJ, et al. Primary 363.07 Focal retinitis and retinochoroiditis of otlher
Symptoms usually resolve in 1-2 months. intraocular lymphoma seen witlh transient white poste~or pole
fundus lesions simulating tlhe multiple evanescent 363. 1s Disseminated retinitis and retinochoroiditis,
ADDITlONAL TREATMENT wh1te dot syndrome. Arr:IJ Ophrha/mo/ 2001 ;119: pigment epitheliopathy
Issues for Referral 617-620. o 363.20 Chorioretinitis, unspecified
Consider referral to a vitreoretinal spedalist. 5. Nguyen MH, Witkin AJ, Reichel E, et al.
Microstructural abnormalities in MEWDS
ONGOING CARE demonstrated by ultrahigh resolution optical CLINICAL PEARLS
coherence tomography. Retina 2007;27:414--418.
FOLLOW-UP RECOM MENDA110NS MEWDS typically presents with unilateral aOJte loss
Monthly until symptoms resolve, tlhen as needed. of vlslon In healthy young women.
ADDITIONAL READING o Clinical examination shows outer retinal ill-defined
PROGNOSIS smaII white lesions in tlh eposterior pole and foveal
Visual prognosis is goad witlh alm051 all patients Jampol LM, Wlredu A. MEWDS, MFC. PIC. AMN,
granularity.
relllVI!ring vision >20140. AI8SE, and AZOOR: One disease or many? Retina
1995;, 5(5):373-378. o MEWDS is usually self-limited with resolution of
Recurrence is rare. symptoms in 1-2 months.
o Quillen DA. Davis JB, Gottlieb JL, et al.lhe white
COMPLICATIONS dot syndromes. Am J Ophthalma/2004; 137()):
Choroidal neovascularization is extremely rare. 538-535.
REFERENCES
1. Jampol LM, Sieving PA. Pugh D, et al. Multiple
evanescent white dot syndrome. I. Clinical findings.
Aich Ophthalma/1984; 102:671-674.
2. Borruat FX. Herbort CP, Spertini F, et al. HLA typing
in patients with multiple evanescent white dot
syndrome (MEWDS). Ocrllarlmmunollnflamm
1998;6:39--41 0
I
423
MICROPHTHALMIA
Alex V. Levin
~ BASICS ETIOLOGY Follow-up It special considerations

Mutated or otherwise abnormal gene(s), especially Genetic consultation if systemic abnormalities or
when bilateral developmental delay and if family history or
DESCRIPTION Infection or teratogen exposure in utero recognized genetic diagnosis
Small eye, unilateral or bilateral, including axial Coloboma or rarely primary aphakia Examine parents for ocular signs and peripheral
length and corneal diameter Idiopathic asymptomatic coloboma if child has coloboma.
With or without intraocular anomalies or systemic
COMMONLY ASSOCIATED CONDITIONS Imaging
disease
Ocular coloboma Initial approach
EPIDEMIOLOGY Congenital cataract, especially if nuclear or B-scan to assess retina and optic nerve if no view.
1-2 per 10,000 newborns (1)1Cl persistent fetal vasculature (PFV, fonmerly known as Will also rule out primary aphakia.
RISK FACTORS PHPV), or other forms of anterior segment B-scan or UBM may be used to assess scleral
Ocular coloboma (1)IC] dysgenesis (5)1Cl thickness.
Congenital cataract Optic nerve abnormalities (e.g., hypoplasia) A scan for axial length
Intrauterine infection (especially rubella) Retinal dysplasia (5)IC] Consider neuroimaging if bilateral optic nerve
No consistent systemic associations except perhaps involvement
Wide range of chromosomal aberrations, syndromes.
and congenital disorders developmental delay when chromosomal aberration Consider CT scan if evidence of small orbit
or other systemic synd ramie findings (especially if severe)
Possibly some teratogens including ionizing
radiation, alcohol, and isotretinoin Anterior chamber depth usually normal (shallow in Follow-up It special considerations
nanophthalmia) If other findings, suggesting glaucoma risk (e.g.,
Genetics elevated risk in aphakia) requires ongoing
Known genes for isolated ocular involvement
~ DIAGNOSIS
monitoring every 6 months for glaucoma.
include CHXO, SHH, OTX2, MAF, PAX6, CRYAA, Sedation/anesthesia as needed.
GDF6, SIX6, CMIC, RX, CRYBA4, and FOXE3. Other
If coloboma, examine every 6 months to screen for
loci known but gene not cloned. HISTORY
retinal detachment.
Known genes with syndrome associations include Family histary of microphthalmia or related
CHD7 (CHARGE syndrome). DPD (developmental congenital ocular disease Diagnostic Procedures/Other
delay), HESX1 (septa-optic dysplasia), SOX2 Known exposure to infection or teratogen in utero Genetic counseling and molecular genetic testing as
(multiple anomalies). BMP4 (multiple anomalies). Other known associated anomalies or appropriate and available.
STRA6 (multiple anomalies, Matthew Wood developmental delay Pathological Findings
syndrome), HCCS (microphthalmia with linear skin Incomplete ocular development possibly including
defects syndrome). ANOP1 (lenz microphthalmia). PHYSICAL EXAM
retina, optic nerve, iris. and choroid.
BCOR (oculofacialcardiodental). Multiple other Full ocular examination including inferior nasal
genes and loci known. peripheral retinal examination for coloboma DIFFERENTIAL DIAGNOSIS
Systemic examination far other anomalies Anophthalmia (no evidence of a globe on imaging
Isolated and syndromic fonms may be autosomal
Nystagmus and strabismus may be present or on postmortem dissection of orbit)
dominant or autosomal recessive. Syndromic may
Refraction may range from high hyperopia to high - Nanophthalmia
also be X-linked dominant or X-linked recessive.
myopia -Microcornea without microphthalmia (1)1Cl
Sporadic cases may or may not be heritable. -Phthisis (e.g., following infection or trauma)
Familial cases may have variable expression. Assessment of visual function
Incomplete penetrance is rare.
Unilateral cases may be genetic (2)IBI.
Clinical assessment of size of palpebral fissure and
periocular tissue/bone size
Assessment of anterior chamber depth
fl TREATMENT
GENERAL PREVENTION MEDICATION
Genetic counseling and/or prenatal testing None for the primary disorder but may need
(if mutated gene known or syndrome recognized in Lab treatment for secondary concerns such as glaucoma
family) Initial lab tests Consider atropine (0.5% if < 1 year old) if anterior
Avoidance of in utero exposures if known risk for None if no systemic involvement chamber shallow as prophylaxis for angle closure
infection or teratogen Karyotype if other congenital anomalies and other complications or if glaucoma present and
Can be detected by prenatal ultrasound at Specific genetic analysis based on diagnosis (e.g., anterior chamber shallow/flat
12-13 weeks (3)IC]. (4)1Cl FISH for microdeletion 22q11 if considering Avoid pilocarpine if anterior chamber shallow
CHARGE syndrome, specific gene mutation analysis (nanophthalmia)
PATHOPHYSIOLOGY as directed by diagnosis)
Incomplete ocular development during embryogenesis ADDITIONAL TREATMENT
as a result of a variety of faulty processes of ocular General Measures
growth, most often involving mutations in Amblyopia therapy as indicated
developmental genes acting as transcription factors
for other downstream genes.
424
MICROPHTIIALMIA
Issues for R.rdarra/ PROGNOSIS ADDITIONAL READING

Genetic consultation If systemic signs or family variable acuity - depends In part on, presence of
history otl1er ocular or non ocular abnormalities. Very poor http:lm-.einstein.edulyourhealtl1fgenetid
Low vision evaluation and support as indicated prognosis if assodated with primary aphakia, retinal article15837.htmI.
Retinal surgery fur detachment due to coloboma. dysplasia, congenital retinal detachmerrtlnon
Surgery is not beneficial in cases of congenital attachment
retinal non-attadunentlretinal dysplasia and usually Risk for retinal detachment if coloboma may be in . CODES
not helpful In coogen ItaI retina I detachment excess of 2%
Risk for glaucoma depends on associated ocular ICD9
Addition/ ntetapies
If nonfunctional eye and small palpebral anomalies 743. 10 MiaophthaImos. unspedfied
fissure/orbital opening, consider sderal shell to COMPUCATlONS 743.30 Congenital cataract, unspedfled
encourage periocular tissue growth. Severe cases Retinal detachment if coloboma 743.49 Other congenital anomalies of ante~or
may benefit from Intraorbital balloon placement by segmen1
Glaucoma If aphakia, persistent fetal vasculature
craniofacial surgeon (6)[C]. (PFVJ. and ante~or segment dysgenesis
If nonfunctional eye and miaophthalmia mild,
consider plus lens in spectacle for enhancing CLINICAL PEARLS
appearance of eye (enlarging) to outside observer. REFERENCES VISual prognosis without dear obstruction to visual
COMPLEMENTARY & ALTERNATIVE 1. Walburg M. Classification of mlcrophtl1almos and pa1hway (e.g., cataract) uncertain, so try amblyopia
TliERAPIES coloboma.J med Genet 1993;30:664-669. therapy and glasses v.t.ere indicated.
None proven or indicated. 2. Fle<kenstein M, Maumenee IH. Unilateral isolated Small dIameter gas permeable contact lenses are an
microphthalmia inherited as an autosomal recessive option for high refractive error.
Cataract, glaucoma, retina, and strabismus as trait Ophthalmic Genet 2005;26: 163-168. Consider possibility of associated systemic findings.
needed. l Wong HS, ParkerS, TaltJ, Pringle KC. Antenatal Ensure adequate orbital and periocular tissue
diagnosis of anophthalmia by three-dimensional growth.
ultrasound: A novel application of the reverse face ExamIne parents If coloboma present.
ONGOING CARE view. Ultrasound Ob5tet Gynecd 2008;32: Consider genetic consult and counseling.
FOU.OW-UP RECOMMENDA110NS
103-105. Rule out nanophthalmia (Increased sderal tl1ickness.
A!. needed for amblyopia monitoring and treatment 4. Ch itayat D, Sroka H, Ke<lti ng S, et aI. The PDAC axial length <14 mm, shallow arrterior chamber,
syndrome (pulmonary hypoplasia/agenesis, peripheml choroidal effusion)
As needed for secondary complications (cataract,
diaphragmatic hernia/eventration, A mlcrophtl1almlc eye In Infancy and toddler years
glaucoma, retinal detachment. and strabismus}.
Anophthalmialm iaophtflalmia, and cardiac defect) mat develops glaucoma may enlarge lnapprop~ately
Every 6 months if glaucoma risk or coloboma
(Spear syndrome, Matthew--Wood syndrome): and have relative buphtl1almia even if tl1e size is still
Low vision Report of eight cases including a living child and less than normal for age.
Follow orbital and periocular tissue growth further evidence for autosomal recessive
especial~ in the first 5 years of Iife
Hdoing glaucoma tube implantation on
lnhe~tance. Am J Med Genet 20D7;143A: microphthalmic < 18-20 mm long, consider
l'llffent Monitoring 1268-1281. pediatric tube size to avoid contact between
School performance and development 5. Weiss AH, Kousseff BG, Ross EA. Longbottom J. posterior plate and optic nerve.
Patierrt concerns about appearance Complex miaophthalmos. Ardl O{ilthalmal
1989;107:161~1624.
PA11ENT EDUCATION
Genetic counseling 6. Gossman MD, Mohay J, Roberts DM. Expansion of
the human miaophthalmic orbit Ophthalmology
Low vision lnteMntlon 199!1;106:2005-2009.
International Children's Anophthalmia and
Miaophthalmia Network http:/1\w/w.
anophthalmia.org/
I
425
MIGRAINE & CLUSTER HEADACHE
Scott Uretsky
~ BASICS PATHOPHYSIOLOGY Follow-up & special considerations

Central activation of pain sensitive cranial structures; MRV for venous sinus thrombosis and work-up of
serotonergic neurotransmission dysfunction; central idiopathic intracranial hypertension (II H)
DESCRIPTION pain sensitization CTA or MRI/A with axial Tl fat suppression: Optimal
Migraine headache (HA): A chronic, recurrent for ruling out dissection
episodic, stereotypical HA syndrome not caused by ETIOLOGY
intracranial or systemic disease (but neural-based) Hereditary; pattern and mode of inheritance unclear; Diagnostic Procedures/Other
- associated migraine features; aura multiple genes contribute
ALERT
- International Headache Society (IHS): Diagnostic COMMONLY ASSOCIATED CONDITIONS LP must be obtained for suspected SAHif CT
criteria and migraine subtypes: Migraine witt10ut Depression, panic disorder, epilepsy, asthma, non-HA negative (prior to MRl)
aura--+- pain Visual aura: Include visual field to exclude
o A. At least 5 attacks fulfilling B-D
homonymous defects indicating parenchymal
~ DIAGNOSIS
o B. HA lasting for 4-72 hours
o C. HA with at least 2 of the following: disease
Unilateral location, pulsing quality, moderate to Clinical impact scales: MIDAS, HIT, MIBS, MSQ,
severe intensity, aggravation by or avoidance of HISTORY MPQ-5
routine activity See IHS criteria
o D. HA accompanied by at least 1 of following: Assess: Inciting event, new onset/de novo versus DIFFERENTIAL DIAGNOSIS
Nausea and/or vomiting, photophobia, or chron idrecurren~ quality, duration, location, and Differentiate fromother primary HA: Tension-type,
phonophobia time course cluster, and "sinus HA" (often self-diagnosed).
o E. Not attributed to another disorder -Characteristic frequency and symptom pattern? Secondary causes of HA are numerous (brief list):
Cluster HA: Episodic, short-lived attacks. clustered -Exacerbating or alleviating factors? Triggers? - In ER: Migraine is diagnosis of exclusion for first or
temporally, followed by pain-free interval. -Position, posture, or Valsalva related? worst" HA
- IHS criteria: -Age >50 years: Temporal arteritis ROS? - Vascular: Intracranial hemorrhage, ischemia,
o A. 5 attacks fulfilling B-D
-Time-intensity relationship:
arterial dissection, sinus thrombosis, aneurysm,
o Subarachnoid hemorrhage (SAH): Maximal
o B. Severe, unilateral, orbital, supraorbital, or and malformations
intensity at onset, that is, thunder-clap" - Neoplasm, benign masses, and
temporal pain lasting 15--80 minutes
o Cluster: Peaks over 3-5 minutes, maximal for
o C. At least 1 ipsilateral feature: Conjunctival lymphoproliferative disease
injection/lacrimation, nasal 1-2 hours, tapers off. - Other: Meningitis. IIH, Chiari, malignant HTN,
o Migraine: Escalates over hour{s), lasts hours to
congestion/rhinorrhea, eyelid edema, cranial neuralgias, infectious sinusitis,
forehead/facial sweating, ptosis, miosis, days. Tolosa-Hunt, acute glaucoma, hypercapnia, sleep
restlessness or agitation - Migraine features? Aura, nausea, vomiting, apnea, and depression
rJ
o D. Frequency: every other day to 8 attacks/day
photophobia, and phonophobia
o E. Not attributed to another disorder
- Cluster: Excruciating, acute, unilateral periorbital
- Characteristic circadian & circannual features pain; crescendo within 5 minutes; ipsilateral TREATMENT
autonomic features
Initial determinations: 1) Primary (no underlying
o Pathognomonic: Provoked by ETOH in ~ 70% MEDICATION
intracranial or systemic disease) versus secondary
HA 2) New onset versus chronic Assess additional symptoms: Transient visual First Line
- Requires emergent evaluation (e.g., neuroimaging obscurations, vertigo, meningism us, amenorrhea, Abortive/acute therapy: Used at first/premonitory
lumbar puncture (LP)): galactorrhea, fever, purulent nasal discharge, migraine symptom
o Acute onset, maximal at onset or focal signs;
myalgias. scalp tenderness. jaw claudication, and -Analgesics: For mild to moderate HA
Progressive symptoms and signs; systemic cognitive dysfunction. o Acetaminophen, aspirin (ASA 900-1000 mg),
symptoms (e.g., fever) - History of focal neurological symptoms? ibuprofen (400-800 mg) antiemetic (1)[A]
- Other worrisome features: Onset fourth to fifth Past medical, psychiatric, and medication history:
Neoplasm, aneurysm, or HIV history? o Naproxen (500-1 000 mg), Ketorolac (also IV
decade, accelerating pattern, history of 15-60 mg)
malignancy or HIV. significant change in HA PHYSICAL EXAM - Triptans: 5-HT1B/1D agonists; vasoconstrictors
pattern, exacerbation with position change, Complete neurological exam including funduscopy: o Triptan choice: Tailor to route of administration,
exertion, sexual activity, or Valsalva Normal except for transient aura signs. side effect profile, tolerability, rapidity of onset
EPIDEMIOLOGY DIAGNOSTIC TESTS & INTERPRETATION of HA and drug action, recurrence history and
Incidence drug half life
Lab o Most effective when used at earliest onset
Migraine: ~: d' 3: 1; cumulative lifetime: ~ 43%, d' Initial lab tests
18%. cluster: d': S? 8:1 o Avoid in prolonged aura, hemiplegic or basilar
Exclusion of secondary causes: Metabolic panel,
syndromes
Prevalence CBOPiatelets, ESR and CRP for age >50 years
Migraine 12-15%; duster ~69/1 00,000 Follow-up & special considerations
RISK FACTORS ANA, Anti-DS DNA Ab, Arterial blood gas, sleep study
Family history: t Risk by 50% versus controls to r/o sleep apnea, anti TSH-receptor Ab, --+- tailor to
individual patient
Genetics
Familial hemiplegic migraine 1, 19p13 Imaging
Initial approach
GENERAL PREVENTION New onset HA of non-urgent nature: MRI
Identification and avoidance of migraine triggers Acute, severe HA, or focal signs: Urgent
non-contrast CT
426
MIGRAINE &CWSTER HEADACHE
ALERT SeCDIIdUne REFERENCES

SSRI + Triptan = risk of serotonin syndrome. valproate IV (Depacon): 1 gram In 50 cc of normal
saline, IV push over 5 minutes; for inpatient 1. Klrthl V, Denys, Moore RA. et al. Aspirin with or
Contralndlcatlons: Ischemic heart disease. angina,
management may use qB-12 hours without an antiemetic for acutl! migraine
poorly controlled HTN headaches in adults. Cochrane Database Syst Rev
Limited use: Corticosteroids, combination
Antiemetics: Use for Gl symptoms; combine with 201 0;(4):CD008041.
analgesics. and opiates
analgesic or vasoconstrictor 2. Linde IC,. Allais G, Brinkhaus 8, et al. Aaipuncture
- Metxx:lopramide. proch lorperazine Prophylactic therapies: AED: carbamazepine,
lamotrigine; SSRI: lacks conclusive trial data; MAOI: for migraine prophylaxis. Cochrane Database Syst
Ergot aIlealoids: Vasoconstrictors limited by diet and drug Interactions Rev 2009;(1):CD00121 8.
- Dlhydroergotamlne (DH E): IV. best tolerated Botulinum toxin 3. Bennett MH, French C, Sd1nahel A. et al.
- Premedication: Prod11orperazine 5-1 0 mg IV + Normobaric lie hyperbaric oxygen therapy for
diphenhydramine 25-50 mg IV/PO ADDITIONAL TREATMENT migraine and cluster headache. Cochrane Database
-Test dose 0.25-0.5 mg IV Genet"al Musures Syst Rev 2008;(3):CD005219.
- UsefuI in ERand inpatient setting; Inpatient: Stratified pharmacotherapy: Regimen based on
0.5 mg IV q6h or 1 mg IV qBh x 8-12 doses: attack charactl!ristics, frequency, severity, disability
die one dose beyond abarting HA impact and assodated features ADDITIONAL READING
- Note contrai ndications. Manage: Obesity, anxiety, depression Buse DC, Rupnow MFT, Upton RB. Assessing &:
lssuft ftH R.efanal managing all aspects of migraine: Migraine attacks,
Pediatric Consideraffrms Chronic/transformed migraine, frequent HA or Migraine-Relatl!d functional impairment, Common
ERtherapy: Pnxhlorperazine IV + analgesic. disability, medication overuse HA, complex syndromes, Comorbidities &: Qualily of Ufe. Mayo Clin Proc
l'regnancy ConWerafians and prophylaxis. 2009;84:422-435.
Non-pharmiiCQlogic inti!IVI!ntions; acetaminophen Additional Therapies Goadsby PJ, Sprenger T. Current practice &. future
antiemetic; triptan si!lety unclear Cognitive and biobehavior.lltraining, Mg2+, directions in the prevention & acute management of
riboflavin, coenzyme Q1 0, and melatonin migraine. Lancet neurology 201 0;9:285-298.
Prophylactic (daily) therapy: For frequent. prolonged,
Lewis D, Ashwal A. Hershey D, et al. Practice
or disabling/sevene attacks, poor COMPLEMENTARY & ALTERNATIVE parameter: Pharmacological treatment of migraine
response/contraindicatians to acute therapies THERAPIES in children & adolescents: Report of the AAN Quality
- Goal: Reduce frequency/severity of attacks, use of Acupuncture (2); hyperbaric oxygen therapy (3); Standards Subcommittee & the practice committee
acute therapies and disability Supplements: Feverfew, ButtertJur root of the Child Neurology Society. Neurology
-Titration to clinical response; side effects limit SURGERY/OTHER PROCEDURES 2004;63:2215-2224.
escalation OccipitaI neiVl! slim ulation Rapoport AM. Acute & prophylactic treatments for
- Drug dass tailored to lndlv1duaI comorbldltles & migraine: Present & future. Neurolog Sd 2008; 29:
tolerability: IN-PATlENT CONSIDERATIONS S11D-S122.
o ,6-bloclcers: for example. propranolol Initial Stabilization
o Caldum channel blockers: for example, See Treatments
verapamil, flunarizine Admgsian Criteria . CODES
o Anti-depressants: for example, TCA: Intractable HA or Status migrainosus; medication
amitriptyline, SNRI: Venlafaxlne weans ICD9
o Anti-epileptics (AE D): For example, va lproate. 339.00 Cluster headache syndrome, unspedfied
IV Fluids
topiramatl!, and gabapentin IV normal saline until oral hydration adequatl! 346.90 Migraine, unspecified, without mention of
Intractable migraine without mention of status
l'fldiatric CansirlfN'llDans Nursing migrainosus
,6-blocker, flunarizi ne Routine
l'regnancy Considerations D&chatge Criteria
Mg2+. propranolol; Avoid: NSAID In third t~mesll!r, HA resolution CLINICAL PEARLS
corticosteroids in first trimester.
Acute, severe HA. escalating or maldmal at onset
Cluster HA ONGOING CARE or focal signs, requires urgent non-contrast
- Drugs to prevent duster attacks at onset: a lumbar puncture
o Uthium: 600--900 mg daily; effective in chronic FOLLOW-UP RECOMMENDATIONS
Dell!rmined by HA response to treatment: Primal)' care Therapy determlned by mlgralne characte~stlcs and
form medicine profiles
o Verapamll: Start 80 mg t.l.d. -+ 120 mg t.l.d. or Neurology
Patient education improves outcomes
o Prednisone: 60 mg daily x 7 days; rapid taper l'lltifmt Monitoring
o Ergotamine: Useful for nocturnal attacks: Recent ER visits or regimen adjustment wanrants
1 mg suppository q.h.s. sooner follow-up: For example, 1-2 weeks.
- During attacks: Poorly controlled HA may require frequent visits: For
o 100% oxygen inhalation by non-rebreather example, 2-4 weeks.
mask; 10 mUmin x >15 minutes DIET
o Intranasal lidocaine; DHE: IV or Intranasal
I
Educate: Food triggers, caffeine, balanced diet, and
o Sumatriptan 6 mg sulxutaneously avoid sldpplng meals.
ALERT PATlENT EDUCATION
Coneom itant use (with in 24 hours) of an ergot or Managing their illness": Triggers, use of medications,
MAOI and a triptan contraindicated. and overuse, side effects profiles, outcome
expectations, and lifestyle
PROGNOSIS
Not clear~ delined &. multifactorial
COMPLICATIONS
Transformation to chronic daily HA. chronic migraine.
medication overuse HA
427
MOEBIUS SYNDROME
Denise A Hug

Avoidance of in utero exposure to known
teratogens.
~ DIAGNOSIS
DESCRIPTION Geneticcounseling HISTORY
Unilateral or bilateral facial weakness with Family history
impairment of ocular abduction PATHOPHYSIOLOGY Known exposure to teratogen in utero
- Other cranial nerves may be involved Not completely understood but felt to be secondary Other known associated anomalies
- Limb anomalies may be present to rhombencephalic maldevelopment involving
predominantly motor nuclei and axons traversing PHYSICAL EXAM
EPIDEMIOLOGY long tracts (3) Complete ocular examination
Incidence - Complex disruption of development thought to - Evaluate ocular motility and alignment (usually
0.0002-0.002% of live births (1) occur between 21-34 days of embryogenesis (4) orthophoric in primary position)
- Evaluate weakness of orbicularis oculi
Prevalence ETIOLOGY (involvement of cranial VII)
Estimated 2,000 living cases worldwide (2) Genetic/inherited - Evaluation of ocular surface
Estimated 800 living in the US (2) - Exposure to teratogens -Assessment of visual function
RISK FACTORS COMMONLY ASSOCIATED CONDITIONS -Evaluate external structures for craniofacial
Family history of Moebius or possibly other Crenulations on sides of tongue/hypoplasia (75%): findings
overlapping congenital cranial dysinnervation Involvement of cranial nerve XII - Complete systemic evaluation for associated
disorders (CCDD) Craniofacial malformations: Epicanthal folds, flat anomalies
Multiple teratogens have been suggested (1) nasal bridge, micrognathia, high arched palate, DIAGNOSTIC TESTS & INTERPRETATION
- Gestational hyperthermia external ear defects, teeth defects, and Lab
- Electric shock. hypertelorism (90%) Initial lab tests
- Chorionic villus sampling Malformations of extremities (85%) None required
-Abuse of benzodiazepines Feeding problems (86%) Consider karyotype/microarray if no teratogen is
-Alcohol Duane syndrome (34%) identified. Gene testing not yet available specifically
-Cocaine
Poland syndrome (11 %) for Moebius, although testing of other genes known
-Thalidomide
- Rare associations: Congenital heart defects, to be causative of CCDD may have a role.
- Misoprostol dextrocardia, arthrogryposis multiplex, urinary Follow-up ll special considerations
Genetics tract anomalies, anosmia, and hypogonadotropic Consider evaluation for mitochondrial disorder
Autosomal dominant, autosomal recessive and hypogonadism (3) including Kearn Sayres with chronic progressive
X-linked recessive have been reported. ophthalmoplegia (acquired), if history of congenital
Variable expression and penetrance involvement unclear.
- MBS1 (13q12.2~13) involved in two unrelated
families (1) Imaging
- MBS2 (3q21~22) and MBS3 (10q21.3~22.1) No imaging is necessary
await confirmation (1) - MRl of head may be performed to evaluate cranial
- Multiple chromosomal aberrations known to have nerves and nuclei
Moebius as a feature
428
MOEBIUS SYNDROME
DIFFERENTlAL DIAGNOSIS Additional '111el'ilples REFERENCES

Isolated cranIaI nerve 6 palsy Bandage contact lenses may be useful in the treatment
Esotropia with pseudo-abduction deficit (especially of extreme corneal Involvement from exposure. 1. Briegel W. Neuropsychiatric flndings of Mobius
with congenimllinfanti le esotropia) sequence- a review. (/in Genet 2006;70: 91-97.
COMPLEMENTARY A ALTERNATIVE
Other oromand ibular limb hypogenesis syndromes: 2. Broussard AB, BO!aljani JG. The faces of Moebius
THERAPIES syndrome: Recognition and anticipatory guidance.
Hypoglossia-hypodactylia syndrome, Hanhart None proven
syndrome, glossopalatine ankylosis syndrome Am JMatern Child Nurs 2008;5:272-278.
Chronic progressive external ophthalmoplegia and SURGERY/OTHER PROCEDURES 3. Verzijl HT, van der lwaag B, Cruysberg JR, Padberg
other mitochondrial disordeG Surgery for esotropia may be performed as GW. Moebius syndrome redefined: Asyndrome of
Thyroid eye disease needed rhombencepha lie maldevelopment. Neurology
- Temporary mrsarrhaphy for extreme exposure may 2003;61 :327-333.
Intranuclear ophthalmoplegia
be benefidal
rJ
4. Miller MT, Owens P, Chen F. Mobius and
Mobius-like syndromes. J Pediatr OphtJuimol
TREATMENT ONGOING CARE Strabismus 1989;26:176-189.

Ocular Iubrlcants as needed for ocular surface drying Frequent follow-up required if ocular surface drying ADDITIONAL READING
Artificial tear ointment at bedtime or mping lids is present. http:f!wNw. ncbi.nlm.nih.govfornirn/1 57900#157900_
close may be helpfuI in cases of lagophthalmos As needed for amblyopia monitoring and treatment Reference41.
ADDITIONAL TREATMENT Patient Monitoring
General Measures Visual function and school performance
Amblyopia therapy as nl!l!ded OveraII hea~h and development of dllld . CODES
lssws far Refwr11l Attention to concerns about self image
These patients have multiple system involvement ICD9
DIET 346.20 Variants of migraine, not elsewhere
and often need multidisciplinary approach Adjust as needed In view of possible swallowing dassif!ed, without mention of intracmble migraine
- Nutritionists, oCOJ patlonaI therapist for feeding issues. without mention of status migrainosus
issues
-Orthopedist, physical and oCOJpational therapist PATIENT EDUCATION 378.72 Progressive external ophthalmoplegia
for limb anomalies Genetlc counseling
- Speech pathologist for language delay Family support network: Moebius Syndrome
- ENT for tradleostomy if unable to manage their Foundation (W'.WI.moebiussyndrome.com) CLINICAL PEARLS
seaetion PROGNOSIS Children with Moebius syndrome need
- Dentist for teettl anomalies Moebius is a nonprogressive congenital condition multidisciplinary approach.
- Neuropsydlologist is often helpful - With good supportive care, nonmallife expectancy Wlltch for corneal desitcationlexposure.
- Genetic counseling
COMPLICATIONS
Corneal ulceration and/or perforation
Amblyopia
I
429
MORNING GLORY SYNDROME
Eugene Milder
Sunir Garg
~ BASICS
Retinal arteriovenous malformations (rare) PHYSICAL EXAM
Carotid artery abnormalities Eye exam
- Stenosis or aplasia of the carotid arteries can - Poor visual acuity. This can be highly variable,
DESCRIPTION occur, leading to cerebrovascular accidents and from nonmal vision to no light perception.
Morning glory syndrome, or morning glory disc seizures. There are variable amounts of stenosis - Refraction: Myopia is common
anomaly (MGDA), is a rare, congenital, funnel-like and there have been documented cases of - Strabismus
excavation of the optic disc and posterior fundus. spontaneous resolution of carotid stenosis. -Afferent pupillary defect
There are several systemic conditions associated - Moyamoya is thought to be an inherited disease - Color vision defects
with MGDA and patients found to have this optic associated with cerebral artery stenosis, and has - (Rarely) cataract
disc anomaly should be checked for these conditions been seen in patients with MGDA. Patients with -Morning glory disc findings (Image 1): Funnel-like
(1)[C]. moyamoya develop exuberant collateralization in excavation of the optic nerve and sclera, a large
Its name derives from the optic nerve appearance the cerebral circulation and are prone to optic disc with a surrounding annular ring of
which has been likened to that of the morning glory thrombosis and hemorrhage. Moyamoya pigmented uveal tissue, radial pattern of
flower. malformations have also been seen in Down narrowed retinal vessels emanate from the far
syndrome, neurofibromatosis, and sic~le cell edges of the optic disc, a central white tuft of glial
EPIDEMIOLOGY tissue. Rarely bilateral.
disease.
Incidence Midline cranial defects (3,4,5)[C]. - Retinal detachment: Can range from a shallow,
(Estimated) 1{1 ,000,000 live births localized detachment of the macula to a bullous
- Pituitary abnormalities, both anatomic and
PATHOPHYSIOLOGY functional total retinal detachment. There are rare reports of
MGDA is thought to arise from incomplete - Basal encephalocele spontaneous resolution.
development of the optic nerve during gestation. A -Absent septum pellucidum Full physical exam
remnant of normal glial tissue remains as a tuft at the Renal disease (rarely) - Height/weight charts for children
center of the nerve (a classic finding in MGDA). Some -Thought to be part of the spectrum of papillorenal - Full neurologic assessment
speculate that there is a component of mesodermal syndromes DIAGNOSTIC TESTS lr INTERPRETATION
dysgenesis; myocontractile elements have been found Neurofibromatosis, type 2
on histopathology and actual contractile movements Lab
- Scattered reports of this association Pituitary panel including TSH and GH levels
have been observed clinically.
Kidney function testing including a basic metabolic
Retinal detachment (RD) ~ DIAGNOSIS panel and urinalysis.
-There is controversy about the etiology of RD in Imaging
HISTORY Initial approach
MGDA. which occurs in about one-third of Poor vision, can present with:
patients. Some postulate that there is a slit-like Cerebral imaging
- Strabismus -Consider MRI/MRA in children to limit radiation
full-thickness peripapillary retinal break, while -leu~coria
others, using optical coherence tomography (OCT), exposure. CT/CTA acceptable in adults.
- Failed school vision screening - Imaging should focus on the carotid circulation,
have documented schisis-like breaks leading to -Acute vision change (suggests RD)
RD. Still others have suggested that there is an the circle of Willis, and midline structures
Evidence of pituitary dysfunction including the pituitary.
abnormal connection between the subarachnoid -Growth retardation
space at the distal end of the anomalous optic Fundus photography
- Hypothyroidism
nerve and the subretinal space, leading to a serous
Evidence of cerebral circulation abnormalities
detachment tilled with cerebrospinal fluid (2)[C].
- Strokes, seizures
430
MORIIING GLORY SYNDROME
Fallcrw-up 1: special cDnSiderlltlons Additional '111eraples 3. Bakri SJ, Siker D, Masaryk T, l!t al. Ocular
Children should be followed closely. Reversible causes Monocular precautions with polycarbonate spectades malformations, moyamoya disease, and mldllne
of vision loss. including myopia and cataract, as we II Is recommended cranial defects: A distinct syndrome. Am 1
as amblyopia should be addressed. Howeve~ patching SURGERY/OTHER PROCEDURES Ophtha/mci 1999;127:356-357.
should be pursued cautiously due to the limited visual 4. Kamiyama M, Yasui T, Sakamoto H, l!t al. Basal
Retinal detachment is usually addressed with pars
potential of eyes with MGDA. plana vitrectomy and long-acting gas tamponade. meningoencephalocele, anomaly of optic disc and
Di1gnostk Ptocedures/Other pan hypopituitarism in assodation with moyamoya
Fluorescein anglog raphy and OCT are usually needed. disease. Pediatr Neurosurg 2000;33: I OD-1 04.
OCT of the peripapillary area is sometimes used in ONGOING CARE 5. K~shnan C, Roy A. Traboulsl E. Morning glory disk
cases of RD to attemp11D locate a retinal break. anomaly, choroidal coloboma, and congenital
FOLLOW-UP RECOMMENDATIONS constrictive malformations of the internal carotid
Pathological Findings Yearly ~ exams are advisable in children found to aner1es (moyamoya disease). Ophthalmic Genet
Staphytomatous excavation of the optic disc and have MGDA. 2000;21 :21-24.
surrounding sclera. Variable amounts of
rnyocontractlle elements, glial tissue, and persistent Plltifmt Monitoring
fetal vasculature have been identified. Parents should manitor children for changes in
vision or behavior. f coDES
Other systemic monitoring as recommended by
Posterior staphyloma/coloboma pediatrics ICD9
Mkrophthalmia with cyst 361 .9 Unspedfied retinal detachment
PATlENT EDUCATION
Patients and parents should be educated about the 743.57 Spedfied congenital anomalies af optic disc
. TREATMENT symptoms of retinal detllcl'lment. A shallow maOJiar
detachmen! associated with MGDA can present with
MEDICATION subtle central metamorphopsia and micropsia. CLINICAL PEARLS
Hormone therapy per endocrinology PROGNOSIS The 3 features tha-t best distinguish MGDA from a
recommendations Visual prognosis in MGDA is often very poor. In the typical staphyloma are: The annular ring of
Anti-thrombotics per neurology recommenda-tions if absence af RD, patients wllo present with good vision pigmented tissue, the central tuft of glial tissue, and
cerebral vascular anomalies exist are not likely to deteriorate. Episodes of optic neuritis the radia I pattern of attenuated vessels.
ADDITIONAL TREATMENT and progressive optic atrophy have been documented It is estimated that one-third of eyes with MGDA
luue.s for Referral but are rare. will develop a retinal detachment.
Pediatric ophthalmology referral is indicated in most The most important associated conditions of MGDA
cases ID assure accurate dlagnosIs, refraction, REFERENCES are cerebral defects including carotid vascuIar
strabismus assessment. and to maximize visual stenosis and midline defects such as basal
potential 1. Klndler P. Morning glory syndrome: Unusual encepholce le and pltuIta ry abnormalities.
Retina referra I is indicated for cases of RD congenital optic disc anomaly. Am 1 Ophthalmol
Neurology referral is indicated for full neurologic 1970;69:376-384. (Q
evaluation, stroke. and seizure assessment and 2. Halk BG, Greenstein SH, Smith ME, Abramson DH,
treatment. Ellsworth RM. Retinal detachment in the morning
Endoainology referral is indicated for cases with glory anomaly. Ophthalmciagy 1984;91:
pituitary abnormaIities 1631H647. (C)
NeurosurgicaI and interventional radiology referral is
Indicated for cases with cerebral vascular
abnormalities
I
431
MULnFOCAl CHOROIDITIS/PUNCTATE INNER CHOROIDITIS
Bradley I Smith
~ BASICS DIAGNOSTIC TESTS & INTERPRETATION Follow-up It special considerations

Lab During the acute phase of inflammation, a patient
May be necessary (as guided by history and exam) may need to be seen at 1--4 week intervals
DESCRIPTION to rule out other treatable causes of posterior depending on the severity of the disease.
Multifocal choroiditis (MFC) and pan uveitis consist of uveitis. (i.e., sarcoidosis, toxoplasmosis, syphilis, Patients should be followed to monitor for the
vitreitis, anterior uveitis, and active choroidal lesions. Iyme disease, and tuberculosis) development of choroidal neovascularization, which
(1) Punctate inner choroiditis (PIC) is similar, but the Complete blood counts as well as liver function and can occur under the macula or near the optic nerve
lesions are confined to the posterior pole. kidney function are needed when immune (peripapillary). This can occur even after the acute
EnOLOGY modulators are used for disease control. phase of the disease is over. Self-monitoring with an
The exact cause remains unknown. Both MFC and Amsler grid may help the patient detect new
Imaging
PIC, as well as a third entity known as diffuse scotomas, distortion, or blurriness that may herald
Initial approach
subretinal fibrosis (DSF) may be syndromic variations the onset of new disease activity or the development
Fundus photography using color and red-free
on a common disease spectrum. of choroidal neovascularization.
techniques is useful for documenting and following
Exogenous viral pathogens that simulate antigens the course of the disease. Self-monitoring with an Amsler grid may aid a
found within the eye may induce an autoimmune patient in developing new disease activity or the
Intravenous fluorescein angiography (IVFA) is helpful
response resulting in inflammation within the eye. development of choroidal neovascularization.
in these patients for several reasons. IVFA may reveal
lesions that may not yet be visible clinically. Also, it DIFFERENTIAL DIAGNOSIS
~ DIAGNOSIS is helpful in defining whether or not a particular
lesion is active. Active lesions characteristically block

Syphilis
Tuberculosis
HISTORY fluorescein within the choroid, but as the study Presumed ocular histoplasmosis
Patients with MFC are usually otherwise healthy. progresses these foci of inflammation will usually Toxoplasmosis
Some may experience systemic symptoms of viral show hyperfluorescence due to staining. Older, Central serous chorioretinopathy
illness just prior to the ocular manifestation. Women inactive lesions typically show only a window defect
Age-related macular degeneration
tend to be affected more than men, mostly in the (hyperfluorescence). In some cases lesions may
show hypofluorescence due to complete loss of the Trauma
third decade of life. PIC usually occurs in myopic
eyes. choriocapillaris. IVFA also may demonstrate leakage
Common complaints include decreased or blurred from cystoid macular edema and abnormal
vision, peripheral field loss, and floaters that have hyperfluorescence from choroidal neovascular
an insidious onset. The disease may be noticed only membranes that may complicate this disease.
in one eye, but both eyes are usually affected. Optical coherence tomography (OCT) is useful for
PIC patients often have photopsias and scotomas. diagnosing the presence of cystoid macular edema,
subretinal fluid, and choroidal neovascular
PHYSICAL EXAM membranes. Newer generation spectral-domain OCT
Vitreitis is present in almost all cases. Anterior may help in determining whether vision loss is from
segment inflammation may also be found in about half atrophy of photo receptors or from a potentially
of cases. Yellow--white subretinallesions. often with treatable process such as cystoid macular edema or
pigmented borders, are the key finding and are seen choroidal neovascular membrane. Serial OCT may be
throughout the fundus. Their size may vary between used to follow the course of disease and/or response
50--300 microns in diameter and represent focal areas to treatment.
of inflammation within the choroid. Patients with PIC Visual field testing is sometimes useful for
have similar lesions that are localized to the posterior monitoring peripheral loss. These scotomas do not
pole. These patients may not have an associated necessarily correspond to active choroiditis. Some
vitreitis on presentation. Broad zones of coalesced patients also have an enlarged blind spot as
lesions resulting in subretinal fibrosis typify DSF. demonstrated by formal visual field testing.
432
MULTIFOCAL CHOROIDITIS/PUNCTATE INNER CHOROIDITIS

. TREATMENT Su rglcal extraction of cataracts may be considered
when the inflammation has been adequately 1. Dreyer RF, Gass JDM. MultifocaI choroid itis and
MEDICATION controlled and remains in remission. panUYeitis: A syndrome that mimics ocular
FirstUne o Slow-release steroidal implants may be considered histoplasmosis. Alch O{iltha/mo/ 1984;102:
Topical steroid alone is generally inadequa'le for In some cases. 1776-1784.
posterior uveitis. In general, these patients require o Vitrectomy for therapeutic dearance of vitreous 2. Mlchel ss, Ekong A. Baltatzls s, Foster cs.
systemic. and/or periocular steroid therapy (1). opacities and for diagnostic purposes may be Multifocalchoroiditis and pan uveitis:
Intravitreal steroids may aIso be considered. Infectious considered when the diagnosis Is undear. lmmunomodulatory therapy. Ophtfla/mo/O!If
causes of UYeitis must be ruled out before instituling 2002;109:3 78-383.
any immune- suppressing treatment.
ONGOING CARE
SecondUne ADDITIONAL READING
Systemic immune modulating drugs may be PROGNOSIS
considered when long-term therapy Is required and/or MFC, PIC, and DSF can often last months to years with Quillen DA, DavisJB, GottliebJL.etal. The white dot
a patient is not a good candidate for systemic steroid frequent relapses resulting in a poor visual prognosis. ~ndromes. Am J Ophfha/mo/ 2004; 137:538-550
therapy 0.e., uncontrolled hypertension, diabetes,
elderly, etc.) (2). Caution is required when dealing COMPLICAnONS
Patients with MFCIPIC are at risk for developing
with these agents due to adverse effects rang lng from
cystoid macular edema. Choroidal neovascularization . CODES
organ damage to fetal insult. In general, their use
should be avoided during pregnancy. can oCDJ r even after there is no active inflammation.
Diffuse scarring as seen with DSF may occur resulting ICD9
ADDITIONAL TREATMENT in poor visual potential. Cataracts and glaucoma can o 360.12 Panuveilis
luue.s for Referral resu It from the disease process and as a side effKt o 363.00 Focal chorioretinitis, unspecified
Posterior uveitis has many different causes and the from steroid therapy. Lifetime periodic follow up is o 363.8 Other dlsorders of choroid
potential for vision loss Is high. In generaI, these cases necessary to manltor for these com pllca'llons.
should be promptly referred to someone who has
considerable experience in the diagnosis and CLINICAL PEARLS
treatment of uveitis.
MFC/PICIs a chron lc relaJMing disorder causing
Additional Theraple.s inflammation in the eye.
o Choroidal neovascular membranes may be trea'led Steroids are first line therapy.
with thermal lase~ photodynamic therapy, Long-term follow up is necessary to monitor for
anti-vascular endothelial growth factor agents, complications such as choroidal neovascula~zatlon.
and/or intravitreaI steroids.
o Cystoid macular edema may be treated widl
lmravltreal steroids, pe~ocular steroids, and/or
anti-vascular endothelial growth factor.
I
433
MYASTHENIA GRAVIS
William A. Cantore

Drugs may unmask or exacerbate MG
- Aminoglycoside antibiotics and penicillamine
PHYSICAL EXAM
Ptosis
- Unilateral or bilateral
DESCRIPTION - Statin treatment may be associated with a - Often fatigable
Myasthenia gravis (MG) is the most common myasthenic syndrome or exacerbation of o Can be demonstrated by observing progressive
disorder ofthe neuromuscular junction. MG causes myasthenia symptoms. ptosis during sustained upgaze
painless, variable, fatigable muscle weakness. - Patients often compensate for ptosis by using their
Weakness can involve ocular, bulbar, limb, and PATHOPHYSIOLOGY
frontalis muscle
respiratory muscles. Extraocular muscles are most Circulating anti-AChR antibodies (80%)
- Cold applied to the eyelid may improve ptosis
commonly affected and patients often present with -Antibodies bind to the AChR of junctional folds,
("ice-pack test")
ptosis and/or diplopia. cause complement-mediated destruction of the
-With rapid shift from down gaze to upgaze, may
folds; results in "simplification" of postsynaptic
MG is the best characterized autoimmune disease. see excessive lid elevation, followed by drooping
region.
2 clinical forms of MG: (Cogan's lid twitch sign)
Circulating anti-MuSK antibodies (1 0%)
-Ocular MG (15%): Weakness is limited to the Ocular motility limitations
- MuSK-positive patients more likely to have early
eyelids and extraocular muscles -Asymmetric weakness of several muscles in both
bulbar and respiratory symptoms
- Generalized MG (85%): Variable involvement of eyes typical
-Women more commonly affected
bulbar, limb, and respiratory muscles as well -Medial rectus muscle often involved ("pseudo
Seronegative patients clinically similar to patients INO")
2 serological forms of MG:
with AChR antibodies - Pupil is not involved
- Seropositive: Patients have detectable antibodies
to the acetylcholine receptor (AChR) or to the ETIOLOGY Weak orbicularis oculi
muscle-specific receptor tyrosine kinase (MuSK). Thymus plays important role in early-onset MG -Examiner can easily pry open forcibly closed
- Seronegative: Patients do not have detectable associated with anti-ACh Rantibodies. eyelids
antibody levels -Gland enlarged with lymphocytic infiltrates, -When the patient tries to keep the eyes dosed,
o 50% of patients with ocular myasthenia are germ inaI centers, and myoid cells which express slight involuntary opening may occur ("peek
seropositive. AChRs sign")
o 90% of patients with generalized myasthenia Examiner may be able to manually open the jaw
are seropositive against resistance.
Thymus abnormal in most patients with MG:
The thymus is abnormal in most patients with MG. - Lymphoid follicular hyperplasia in 70% DIAGNOSTIC TESTS & INTERPRETATION
EPIDEMIOLOGY -Thymoma present in to 1Q- 15% of patients with Lab
Occurs at any age MG Anti-AChR antibodies
Bimodal distribution: o Most thymic tumors in patients with MG are - Binding (sufficient in most cases), blocking, and
- Early peak (40%) in the second and third benign modulating antibodies can be assayed.
decades. o The peak incidence occurs in the fourth to sixth - BQ-85% of all patients with MG seropositive
o Female:Male ratio is 2:1. decades, with no sex predilection o Generalized MG: 85% (2)[C]
- Late peak (60%) in the sixth to eighth decades. Autoimmune thyroid disease (8% of MG patients) o Ocular MG: 50%
o Female:Male ratio is 1:2 o MG and thymoma: Almost 100%
Incidence
30 new cases per million (1)
~ DIAGNOSIS Anti-MuSK antibodies
- Present in up to 50% of generalized MG patients
HISTORY seronegative for anti-AChR antibodies; absent in
Prevalence ocular MG
15 per 100,000 in the US Patients with MG complain of muscle weakness
- In most patients, ptosis or diplopia is the initial Thyroid function tests
Approximately 60,000 patients with MG in the US
symptom. Thyroid antibody test
Prevalence of MG has increased over the past - Difficulty chewing, swallowing, or talking.
50 years Imaging
o Patients may complain of choking or coughing CT or MRI of anterior mediastinum
RISK FACTORS after eating, escape of liquids through the nose -Thymoma
Familial MG when swallowing
Factors that worsen MG symptoms include stress. o Voice may become nasal or hoarse Diagnostic Procedures/Other
- Limb weakness Ice test frequently performed in office with
heat, infection, thyroid disease, pregnancy,
menstruation, fever, and drugs. - Respiratory dysfunction is rarely the presenting improvement of ptosis 2+ mm highly suggestive for
- Consider annual vaccination against influenza for symptom of MG MG.
MG patients. Weakness usually fluctuates, worsening at the end Edrophonium chloride (Tensilon) test
of the day or with prolonged use of the muscles -Acetylcholinesterase inhibitor
Genetics -Allows ACh to interact longer with postsynaptic
No known Mendelian inheritance of MG Sensory complaints not typical of MG
membrane, resulting in greater end-plate
Family members of patients with MG are depolarization
1,000 times more likely to develop the disease than - Examiner looks for transient improvement in
is the general population. muscle strength (e.g., resolution of ptosis)
Transient neonatal MG seen in 10-20% of infants o Initial dose 2 mg IV. can be followed by another
born to myasthenic mothers. 2 mg every 1 minute up to maximum of 10 mg
-Transplacental passage of anti-AChR antibodies o Sensitivity 8o-90%
- Resolution in weeks to months -Atropine must be available during the
edrophonium test.
- Patients should avoid taking oral
anticholinesterase inhibitors for 24 hours prior to
the test.
-With availability of serologic tests, edrophonium
test is rarely performed.
434
MYASTliENIA GRAVIS
Neurophysiological tests SmndUm~ COMPLICATIONS

-Routine EMG Is not helpful In ocular MG A2athlop~ne: 100-200 mgld PO Myasthenic c~sls
- Repetlttve nerve stlmuIat!on (RNS) has a sensitivity - Most commonly used second line - Neurologlcal emergency
of about s5%. immunomodulator -Intensive care unit admission
-Single-fiber EMG is more sensitive (!lo-95%). but - Side effects include hepatol:olcidty, cytopenia, and o VentilaiDIY support
less spedfic than RNS. lymphoproliferative disease. o IVIG or plasma exchange to remove circulating
Pathological Findings - Regular monitoring of complete blood munt liver autoantibodies
Musde electron miaoscopy fundlon tests, and renal function tests
- "Simplification of postsynaptic region Mycophenolate mofeti1: 1 g PO or IV b.i.d.
-Selectively inhibits proliferation of activated B and REFERENCES
lmmunofluorescence
- lgG antibodies and mmplement on receptor Tlymphocytes 1. McGrogan A. Sneddon S, de Vries C~ The inddence
membranes ADDmONAL T1lEATMENT of myasthenia gravis: Asystematic literature
Genenl MNsui'8S review. Neuroepldemlo/ogy 201 0;34(3):171-183.
Conditions that mimic ocular MG: AsslstiYe devices 2. Meriggioli MN. Myasthenia gravis with
-Chronic progressive mernal ophthalmoplegia - Ptosis crutches" and lid adhesives are usually not anti-acetylcholine receptor antibodies. Front Neural
- Myotonic dystrophy well tolerated Neurosd 2009;26:94-1 08.
-Cranial neuropathies -All eye patch or lens ocduder eliminates diplopia 3. Schneider-Gold C, Gajdos P, Toyka KV, Hahlfeld
- Guillain Barr~ Syndrome (Fisher variant) - Prism is helpful only if the ocular misalignment is RR. CorUcosterolds for myasthenia gravis.
- Thyroid ophthalmopathy stable Cochrane Database Syst Rev 2005(2):CDOD2828.
Conditions that mimic generalized MG: Issues for Referral 4. Kupersmith MJ. Ocular myasthenia gravis:
- Amyotrophic lateral sderosis (AI..S) Because of the likelihood of gener.~lization and Treatment successes and failures in patients with
- Lambert-Eaton myasthenic syndrome complexity of managem en!, patients with MGshould long-term follow-up. 1 Neural 2009;256(B):
-Botulism be followed by a neurologist. 1314-132D.
SURGERY/OT11ER PROCEDURES
TREATMENT Tlrymoma . CODES
- SurgeiY with or without radiotherapy
MEDICATION - value of thymec!Dmy in patients without thymoma ICD9
First Line undear 358.00 Myasthenia gravis without (acute)
Controlled clln leal t~als for any treatment of MG are o No randomized trials to date exacerbation
rare. o In genera~ thymectomy Is offered to younger
368.2 Diplopia
Acetylcholinesterase inhibitors (under age 60) anti-AChRantlbody-posltlve
patients with generalized MG. 374.30 Ptosis of eyelid, unspedfied
- No placebo-controlled randomized studies
- May provide symptomatic relief Neuromuscular blocking agents should be avoided
- Short half-lives necessitate frequent dosing by anesthesiologists.
- Side effects lndude dlarmea. sweating, salivation,
CLINICAL PEARLS
and tearing Consider the diagnosis of MG in any patient who
- Rarely effective for ocular MG Admission Criteria
Plasmapheresis presents wtth diplopia, regardless of the pattern of
- Pyridostigmine bromide (Mestinon) ocular misalignment MG can mimic any ocular
o Available as 60 mg tablet t 80 mg MG motor abnormality, including an internudear
susta!ned-release tablet. and 60 mg/5 ml syrup Pulmonary infections ophthalmoplegia.
o Initial dose in adults is 30 mg ti.d. Myastt1enlc or choll nerglc crises When suspicious of MG, ask: the patient about hair
o Increase dose in 30 mg increments as needed, (trouble combing), chairs (trouble arising), and stairs
to maximum 12D mg q3-4 h ALERT
(trouble dimbing).
-Neostigmine methylsulfate (PrDStigmin) Any patient with MGand difficulty breathing or
swallowing Is a medicaI emergency. The differential diagnosis of variable diplopia
o Available In D. 25, D. 5, and 1 mg/m L indudes MGand thyroid aphtha lmopathy. Patients
concemratlons with MG are most symptomatic late in the day;
o Initial dose 0. 5 mg subtutaneously or IM q3h
patients with thyroid aphtha! mopathy are most
Corticosteroids ONGOING CARE symptomatic ea~y In the day (due to Increased
- Umited evidence from randomized mntrolled PROGNOSIS orbital congestion after being supine).
trials(3)[A] The course of MG is highly variable, but usually
- Marked Improvement In over 75% of MG patients progressive
- Ptosis and aphtha lmoparesis usually respond only Ocular myasthenia generalizes in So-9D%,
to immunosuppression almost always wtthln flrst 2 years
- Early use of steroids in ocular MG may prevent Maximum weakness usually occurs within the first
generalization (4)[C) year
- Predn lsone After 15--20 years. untreated weakness becomes
o Initial dose 60-IID mgld PO fixed
I
o Taper very slowly
Remission very rarely permanent
o Switch ID alternate day regimen within 2 weeks
o May also start at 2D mgld and gradually
40% of patients have severe MG
increase dose - SO% of these will require mechanical ventilation
during the courw of their illness
Mortality rate less than 5%
435
MYEUNATED NERVE FIBERS
Michael J. Bartiss
Possible mechanisms include:
- Defect in lamina cribrosa
~ DIAGNOSIS
DESCRIPTION - Fewer axons relative to size of scleral canal. thus HISTORY
Myelinated (Medullated) Nerve Fibers allowing room for myelination to proceed into the Possible history of trauma
White striated patches at the upper and lower poles retina History of lesser vision in one eye with or without
of the optic disc of varying severity - late development of the lam ina cribrosa may strabismus
Frayed and feathered edges follow path of normal allow oligodendrocytes to migrate into the eye PHYSICAL EXAM
retinal fibers ETIOLOGY Full ocular examination including careful evaluation
Retinal vessels that pass through the superficial Oligodendrocytes (responsible for myelination within of the optic discs and evaluation for concomitant
layers of the nerve fibers are obscured the central nervous system) typically begin at the potentially treatable amblyopia and high myopia
Patches or slits of normal appearing retina may lateral geniculate nucleus at approximately Evaluate skin for evidence of Gorlin syndrome
occasionally be visible within the area of myelination 5 months gestation and terminate at the lamina (uncommon)
Myelinated fibers are discontinuous with the optic cribrosa at approximately 40 weelcs gestation DIAGNOSTIC TESTS lr INTERPRETATION
nerve head in approximately 20% of cases Clinical appearance occurs when fibers in the retina
Imaging
Can rarely be acquired after infancy and even in acquire a myelin sheath
Usually none
adulthood (trauma appears to be common COMMONLY ASSOCIATED CONDITIONS Neuroimaging should be considered in any patient
denominator in these cases) Amblyopia with or without high myopia in involved with suspected Gorlin syndrome to rule out
EPIDEMIOLOGY eye associated medulloblastoma
Occurs in approximately 1% of the general Oxycephaly with abnormal length of the optic nerve Diagnostic Procedures/Other
population (uncommon) OCT may be helpful
RISK FACTORS Tilted disc syndrome
Anterior segment dysgenesis DIFFERENTIAL DIAGNOSIS
Genetia Tilted disc syndrome with myelinated nerve fibers
Has been reported with an autosomal dominant Possibly neurofibromatosis type2 (debated)
Cotton wool spots/exudate
inheritance pattern in familial cases (uncommon)
Has been reported with Gorlin syndrome: Multiple
basal cell nevi, with possible associated
medulloblastoma
Traboulsi described an autosomal dominant
vitreoretinopathy characterized by extensive bilateral
myelinization of the retinal nerve fiber layer,
congenitally poor vision, severe vitreous
degeneration, high myopia, retinal dystrophy with
night blindness with reduction of
electroretinographic responses and limb deformities.
436
MYELINATED NERVE FIBERS
Pollack S. The morning glory disc anomaly;

. TREATMENT ONGOING CARE contractile movement. dasslflcatlon, and
embryogenesis. Doc Ophtha/ma/1987;65:439-460.
MEDICATION FOLLOW-UP RECOMMENDATIONS Brown G, Tasman W. congenital Anomalies ofthe
No medical treatment for the p~ mary disorder Regular follow-ups to monitor for changes in Optic Disc: New York: New York Grune & Stratton,
refractive error 1983.
ADDITIONAL TREATMENT As needed for amblyopia monitoring and treatment o Traboulsi El, et al. A new syndrome of myelinated
General Measures nerve fibers, vitreoretinopathy and skeletal
Appropriate refractive error correction as soon as PATIENT EDUCATION
Amblyopia management rna !formations. ArdJ Ophthalmo/1993;111 :
appropriate with concomitant amblyopia treatment if
1543-1545.
indicated PROGNOSIS Miller NR. Walsh and Hoyt's Clinical Neurrr
luws far Refwral Amblyopia assodated with high myopia previously ophthalmology Balflmore. Maryland: Williams and
o Dermatology, if concerned about Gorlin syndrome thought to be unamenable to amblyopia treatment. Wilkins, 1982.
(uncommon) Evidence now indicates that some patients will
o Genetlc counseling If Indicated respond to amblyopia therapy.
o Myelinated nerve fibers reported to disappear as a
COMPLEMENTARY & ALTERNADVE result of tabetic optic atrophy, pituitary tumor,
CODES
THERAPIES glaucoma, cent111l retinal artery occlusion, and optic
None proven or indicated neuritis. ICD9
367.1 Myopia
SURGERY/OTHER PROCEDURES COMPLICATIONS 379.21 VItreous degeneration
Surgery for strabismus if indicated o Amblyopia 743.57 Spedfied congenital anomalies of optic disc
o Strabismus
o Rel!active error
CLINICAL PEARLS
ADDinONAL READING Work 1o maximize visual potential, espedally in
bilateral cases.
o Nucci. Paulo In Ophthalmic Genetics 1990;11(2): o Protective eyewear if best corrected visual acuity is
143-145. subnormal in one eye
Brodsky MC, Balcer RS, Hamed L.M. pediatric
Neuro-Ophthalmology. Sp~nger; New York:
New York. 1996.
I
437
MYOPIC DEGENERATION
Robert Bergren
~ BASICS Prevalence
The prevalence of myopia in developed countries is
reported to be between 11-36%. The frequency of
~ DIAGNOSIS
DESCRIPTION degenerative myopia has been reported to range Ophthalmic features of degenerative myopia
Myopic degeneration is a complication of severe or from 27-33% ofthe myopic population that include:
progressive myopia causing mild to severe central corresponds to rates of 1. 7-2.1% in the general -Scleral thinning, ectasia, and posterior staphyloma
vision loss and is one of the leading causes of visual population. -Tilted oval disc with long vertical axis and
debilitation in the world. Lass of macular function The prevalence of myopia shows a marked change temporal atrophy or myopic crescent
occurs secondary to macular hemorrhage, retinal with age, with the peale at 20 years. -Thinning of the pigment epithelium and choroid
pigment epithelium (RPE) atrophy, or choroidal allowing visibility of the larger choroidal vessels
neovascularization. RISK FACTORS giving a tessellated fundus appearance.
Myopia may be divided into simple, congenital, and Genetics -Areas of pigment epithelial and choroidal atrophy
degenerative. Simple myopia has often been described as a with sharp margins sometime lined by pigment.
dominant condition but the degenerative form is These can progress and coalesce into larger
Simple and congenital myopia are not progressive
thought to be autosomal recessive. However, both irregular lesions with time
and do not develop the typical degenerative
forms are multifactorial. -Lacquer Craclcs (ruptured Bruch's elastic lamina)
changes.
PATHOPHYSIOLOGY appear as irregular liner or stellate brealcs in the
EPIDEMIOLOGY pigment epithelium
The sclera is thinned at the posterior pole with sclera
lnddence ectasia and posterior staphyloma. - Macular hemorrhage can occur with a lacquer
The incidence of myopia varies with age but it craclc in the absence of a choroidal neovascular
The choriocapillaris is thin and there is a loss of
generally occurs in the grade school years. At a membrane. They can be associated with trauma
melanocytes from the choroid.
young age, progressive myopia can be Choroidal neovascularization.
indistinguishable from simple or congenital myopia. The RPE cells are flatter and larger before they
- Hemorrhage with pigment epithelial elevation,
undergo degeneration.
Those with degenerative myopia often have rapidly subretinal fluid or edema
increasing myopia and axial length through Bruch's membrane undergoes thinning, splitting, -When occurring as a darlc spot in the posterior
adolescence. This increase can then continue until and rupturing. pole, it is sometimes referred to as a
the age of 50 years. ETIOLOGY Foerster-Fuch's spot.
The macular degenerative changes often develop in The cause of the degenerative process is not clearly - May occur in up to 40% of highly myopic patients.
the productive years of young adulthood and understood but it may be the result of a biomechanical Those with patchy atrophy and lacquer craclcs are
continue to progress indefinitely. abnormality with progressive stretching of the sclera, at high risk.
leading to thinning of all layers in the posterior pole.
Retinopathy of prematurity and premature birth
without ROP is associated with high myopia.
438
MYOPIC DEGENERATION
HISTORY COMPLICATIONS
Highly myopic patients with sudden vision changes ONGOING CARE VIsual loss from macular changes
and new metaiTKII]Ihopsla need to be evaluated for Retinal detachment
choroidaI neovascularlzatlon. FOLLOW-UP RECOMMENDATIONS
o Ophthalmologist for continued ca refu I evaluation of
DIAGNOSTIC TESTS & INTERPRETATIDN both macular changes and possible peripheral ADDITIONAL READING
Diagnostic Proc8dul'fi/Othar retinal changes
Flou rescein angiography o Low vision support and contln ued monitoring of
o Rabb MF, Garoon I, La Franco FP. Myopic macular
Optical coherence testing (ocn refractivl! error. Dedining vision can be due to both degeneration./nt Ophthalmol Clin 1981;21:51--69.
progressive macular changes and progression of the o Hayashi K. Ohno-Matsui K. Shimada N, et aI.
myopia. Long-term pattern of progression af myopic
. TREATMENT maculopathy: A nat\lral history srudy.
PATIENT EDUCATION Ophthalmology 201 0; 117(8): 1595--1611.
Address refradivl! error with glasses or contact lens Patients who are at high risk for choroidal o Chang LK. Spaide RF, Brue C. et al. Bevadzumab
Low vision support neovasc:ula ~zatlon should be Instructed to monltor treatment for sulrfoveal choroidal neovascularization
ChoroidaI neovascularization (C NV) detailed vision in each eye separately on a regular from causes other than age-relall!d macular
- Laser treatment for extrafoveal CNV but not basis and consider using an Amsler grid. degeneration. Arch Ophthalmo/2008;126(7):
]uxtafOYNI CNV due to possl ble long term PROGNOSIS 941--945.
expansion of the laser scar There is a guarded prognosis for those with
- Anti-vascular endothelial growth factor progressive staphyloma. Risk. of vision loss from
(Anti-VEGF) therapy for sulrfoveal or juxtafoveal macular atrophy or choroidal neovasrularization . CODES
CNV increases with age.
SURGERY/OTHER PROCEDURES ICD9
Scleral buckle or vitredomy for retinal detachmen! 360.21 Progressive high (degenerative) myopia
I
439
MYOTONIC DYSTROPHY
Hyung Cho
Christian Wertenbaker
~ BASICS
GENERAL PREVENTION HISTORY
Genetic counseling Myotonia: Slow relaxation of muscles after
Prenatal and preimplantation diagnosis possible contraction, often the first detectable finding
DESCRIPTION Dysphagia
Myotonic dystrophy is an inherited disorder of the PATHOPHYSIOLOGY
CUG or CCUG repeats in the mutant RNA interact Muscle weakness (and pain in DM2)
muscles and other body systems. Hypoventilation, disturbed sleep, and excessive
Type 1: DM 1 (Steinert's disease) with RNA binding proteins and disrupt RNA splicing,
affecting many genes daytime sleepiness
- Represents 98% of all cases Gastrointestinal symptoms: Dysphagia, constipation,
- Severe congenital form witfl marked - Skeletal muscle chloride channel: Responsible for
myotonia abdominal pain
developmental disability
- Insulin receptor Incontinence
Type 2: DM2 (Proximal myotonic myopathy)
- Cardiac troponin T Infertility
- Milder version of DM 1with more restricted
manifestations Cardiac history: Palpitations, blackouts. syncope
EPIDEMIOLOGY ~ DIAGNOSIS Cognitive impairment/personality disturbance

Complications of pregnancy and delivery
Most common muscular dystrophy affecting adults
Ophthalmic features of myotonic dystrophy include PHYSICAL EXAM
DM1: Age of onset is childhood to 40 years
varying degrees of: Myotonia (handshake sign)
DM2: Age of onset is 20-60 years
Cataract: Most common ocular abnormality Frontal balding
Men and women equally affected
- Christmas tree cataract": Multicolored iridescent Hollowing ofthe masseter and temporalis muscles
Prevalence crystalline lens opacities Facial weakness
~ 1 case per 8,000 population - later, stellate posterior cortical cataract Slackened mouth
Varies widely in different geographic areas Orbicularis weakness
"long face"
RISK FACTORS Delayed opening of eyes after forceful closure
Frontal bossing
(myotonia of orbicularis)
Genetia Hatchet face
Myotonic dystrophy is inherited in an autosomal Ptosis: Involvement of levator muscle
Wasting of neck and limb muscles
dominant pattern Slow saccades
Monotonous nasal voice
Exhibits anticipation, getting progressively worse Progressive external ophthalmoplegia (diplopia rare)
Cardiac abnormalities: Bradyarrhythmias,
witfl each generation low intraocular pressure tachyarrhythmias
- More severe when the disorder is passed on from Pigmentary retinopathy similar to that of Kearns Endocrine disturbance: Insulin resistance, testicular
the mother Sayre syndrome atrophy
One of several known nucleotide repeat disorders
Gastrointestinal disorders
- DM1: DPMK gene-expanded repeat of CTG on
chromosome 19
- DM2: ZNF9 gene-expanded quadruplet repeat of
CCTG on chromosome 3
440
MYOTONIC DYSTROPHY
DIAGNOSTIC TESTS & INTERPRETATION PROGNOSIS

Lab . TREATMENT DM1: Ufe expectancy appears to be reduced
Blood wcdt may show insulin resistance and mild to DM2: Ufe expectancy appears to be normal
moderate elevations in serum creatine kinase ADDITIONAL TREATMENT
COMPUCATIONS
Serum immunoglobulin studies may show lgG and Genw11l Musul'fiS High risk of cardiovascular and respiratory
lgM hypogammaglobulinemia Symptomatic support complications during general aneslt!esia
Imaging MuseIe wealen ess: Exercise training
Brain MRI Ankle-foot~rthatlcs for foot drop
- Scattered or diffuse bilateral symmetrical white Excessive daytime sleepiness: Modafinil, BiPAP ADDITIONAL READING
matll!r hyperintl!nse lesions, with variable frontal Conduction abnormalities: Pacemalcer placement ArsenauIt ME, PMwst C, LeseauIt A. Laberge C,
or temporal-insular predominance Myotonia rarely requires treatment et aI. CIinical charactl!ristics of myo!Dnic dystrophy
Diagnostic l'roc.dures/Other SURGERY/OTHER PROCEDURES type 1 patients wilt! small OG expansions.
Molewlar analysis for the nucleotide expansions in Cataract extlllc:tion for cataracts Neurology 2006;66(8): t 2.43-1 250.
lt!e DMPK and ZN F9 gene is the gold standarD Ptosis repair for sight limiting ptosis: Caution nat to Cho DH, Tapscott SJ. Myotonic dystrophy: Emerging
Electromyography (E MG) may detect presence of precipitille exposure kEiiiiDpathy mechanisms for DM1 and DM2. Biochim Biophys
myotonia Aeta 2007; 1772(2): t 95-204.
Slit-lamp examination may show typical cataract Day JW, Ricker K. Jacobsen FJ, et al. Myotonic
formation ONGOING CARE dystrophy type 2: Molerular, diagnostic and dinical
Electrocardiography (ECG) may show atrioventricular spectrum. Neurology 2003;6D(4):657-fi64.
and intraventricular conduction disturbances with FOLLOW-UP RECOMMENDATIONS
Ophthalmologist Machuca-Tzlll L. Brook. D, Hilton-Jones D. Clinical
prolongation of the PR inte!Val and QR5 complex and molerular aspects of the myotonic dystrophies:
Neurologist A review. Musde Nerve 2005;32: 1-18.
Muscle biopsy (see pattJJ
Forced vital capacity (FVC) measurements to detl!ct Cardiologist
weakness of respir.rtory muscles Pul monologist
5wallowlng assessment to assess for dysphagia Physical therapist
Endouinologist
( ; coDES
Pathological Findings Rheumatologist
Centrally-located nudei run down the centers of ICD9
muscle flbers Genetic counseling 359.2t Myotonic muscular dystrophy
The rnyofilamenl!i and sarcoplasmic retirulum are PATIENT EDUCAllON 366.9 Unspedfied cataract
disrupted, and accumulations of impaired The myotonic dystrophy loundation 374.30 Ptosis of eyelid, unspecified
mitochondria may be found (~.myotonic.erg)
DIFFEREN11AL DIAGNOSIS MDA USA homepage (http:f!Www.mda.org)

lntl!mational MyotOnic Dystrophy Organization CLINICAL PEARLS
Other muscular dystrophies
Other myotonic syndromes (http:/fwww. myotonic:dystrophy.com} Myotonic dystrophy Is 1he most common Inhertted
Mild tetanus neuromuscular disease in adults.
Polymyositis It is a multisystem disorder charactl!rized by skeletal
Stiff person syndrome muscle weakness and myotonia, cardiac conduction
abnormalities, cataracts, ti!Stlcular failure,
hypogammaglobulinemia, and insulin resistance.
Due to its wide range and variability of
presentations, lt!e diagnosis can often be lnldally
missed, but it can usually be confirmed by careful
attention to all the dinical features and/or by
detailed fam lly history.
Treatment is symptomatic and lt!ere is no
disease-modifying therapy available.
I
441
NANOPHTHALMOS
L. Jay Katz
~ BASICS
It may result from an arrest in ocular development Lab
after closure of the embryonic fissure. Initial lab tests
DESCRIPTION A smaller than normal optic vesicle growing from Ocular sonography: Axial length < 20 mm. shallow
Nanophthalmos (simple microphthalmos) is a rare the forebrain may be the cause of the reduced size anterior chamber depth, thickened sclerochoroidal
developmental disorder characterized by a small eye of the eye. and scleral thickening could be explained wall (> 1.5 mm), possible optic nerve head drusen.
with short axial length (14.5-20 mm), shallow by the development of a normal amount of scleral
anterior chamber, high hypermetropia
Follow-up i spec:ial considerations
cells surrounding a smaller optic vesicle, resulting in In childhood, correction of refractive error to prevent
(+7.25-+20.50 diopter), thick sclera, a normal or a proportionately denser population of cells.
thick lens, high lens-to-eye volume ratio, and amblyopia is mandatory.
crowded optic disc (pseudopapilledema). COMMONLY ASSOCIATED CONDITIONS Adults without glaucoma need follow-up
Ocular: Hypermetropia, retinal folds and yellow examination every 6 months for early glaucoma
Rarely, some patients have emmetropia or myopia
macular pigmentation, macular hypoplasia, detection.
secondary to increased refractive power of the
pigmentary retinal degeneration, retinitis Avoid any intraocular surgery unless absolutely
cornea and lens.
pigmentosa, pigmentary retinal dystrophy, acquired necessary.
EPIDEMIOLOGY retinoschisis. retinitis pigmentosa, and optic nerve Patients are at risk of spontaneous uveal effusion.
Prevalence head drusen High risk of malignant glaucoma and uveal effusion
An uncommon condition Systemic: Cryptorchidism, Hallermann-Streiff intra- and postoperatively.
Equal prevalence in men and women syndrome
Imaging
RISK FACTORS Full ophthalmic examination with particular
Nanophthalmos is a congenital malformation without
risk factor for acquisition.
~ DIAGNOSIS attention to possibility of angle-closure glaucoma
- Review of systems to identify other possible
Genetics HISTORY syndrome findings
Most cases are not inherited and are not heritable. Glasses with thick convex lenses since childhood A scan ocular sonography to determine the ocular
Amblyopia in those who did not receive appropriate axial length
Both patterns of autosomal dominant (more
common) and recessive isolated nanophthalmos treatment in childhood - B-scan ocular sonography to evaluate for
have been reported. Family history of glaucoma choroidal thickening and choroidal effusion
Mutations of MFRP (membrane frizzled-related PHYSICAL EXAM Diagnostic Procedures/Other
protein) that regulates axial length in autosomal Slit lamp exam: Corneal diameter usually < 12 mm, Orbital MRI is done to evaluate choroidal thickening or
recessive nanophthalmos and NN01 on lens and iris bulging forward into a shallow anterior detachment and choroidal effusion. Usually not
chromosome 11, an autosomal dominant locus. chamber. required.
Refraction: Hyperopia Pathological Findings
Gonioscopy: Occludable angle Thickened sclera with an abnormal arrangement of
Funduscopy: Crowded optic discs collagen, reduced levels of glycosaminoglycan, and
(pseudopapilledema), pigmentary retinal changes. elevated levels of fibronectin.
Tonometry: Elevated intraocular pressure (lOP). wide DIFFERENTIAL DIAGNOSIS
pulse amplitude of mires Anterior segment microphthalmos
Microphthalmos
442
NANOPHTliALMOS
MacKay CJ, Shek MS, Carr RE, et al. Retinal

. TREATMENT ONGOING CARE degeneration wllh nanophlhalmos, cystic macular
degeneration, and angle closure glaucoma. A new
Narrow angle with a normal lOP: Follow-up every FOLLOW-UP RECOMMENDATIONS recessive syndrome. Ardl Ophtha/mo/ 1987;105(3):
H months and consider early laser iridotomy. All patients should be followed regularly for early 366-371.
glaucoma detection, especially after their fourth Singh OS, Simmons RJ, Brodchurst RJ, et al.
Closed angle with a nonnaiiOP: Laser iridotomy
decade. Nanophthalmos: A perspective on identification and
Closed angle after laser lrldotonny Ylllh nDrmal or
Nanophthalmos associated with any oa.llar or lherapy. Ophthalmologt 1982;89(9):1006-1 012.
high lOP: Do ocular sonography.
systemic problems should be followed for those
-Choroidal effusion: Treat the effusion.
conditions.
-No choroidal effusion: Peripheral iridoplasty
High lOP without response to laser iridotomy or PROGNOSIS . CODES
lrldoplasty and no choroldaI effusion: Start medicaI Those who develop uncontrolled glaucoma and need
therapy like a case of open angle glaualll'la. surgery have poDr visual prognosis secondary to ICD9
- Miotics can Wlll3ell angle obstruction by common posterior segment Intra- and postoperative 743. 10 MiaophthaImas, unspedfied
producing a relative papillary block and by complications. 743.11 Simple mlaophthalmos
relaxing lens zonules COMPUCATlONS
High lOP accompanied with peripheral anterior Glaucoma.
synechia without response to laser therapy and Sponlilneous and intra- or postoperative uveal CLINICAL PEARLS
miDimum medical therapy: Trabecu lectomy, possible effusion or exudative retina I detachment
lens extraction in those who do not have peripheral Nanophthalmos Is a congen ItaI ocular flndlng and
anterior synechia. may be assodated with cryptordl idism and
Hallermann-Streiff syndrome.
Modification of the trabeculectomy to avoid ADDITIONAL READING High possibility of posterior segment complications
postoperative hypotony and perform prophylactic
postl!rlor sderotomles In bolh lower quadrants. The Tay T, Smith JE, Berman Y, et al. Nanophthalmos in with any surgical intervention
sclerotomies should be left 11nsutured to allow a Melanesian population. Clin Eq~eriment The patients usually develop angle-closure
continued drainage of supradloroidal fluid. O{iltha/mo/2007;35(4):348-354. glaucoma after the fourth decade.
UveaI effusion, choroidal detadlment. or serous YuzbasiogIu E, Ari!Jnay 0, Agacha n A, et al.
retinal detachment Systemic steroid or surgical Phacoemulsification in patients with
vortex vein decompression nanophthalmos. Can J Ophtha/mol 2009;44(5):
534-539.
General Measures
Any patient with nanaphthalmos by the fourth
decade should have ocular sonography for detecting
possible choroidal separation or effusion and
gonioscopic evaluation for angle closure.
Performing any kind of surgery including laser
iridotonny may be associated with uveal effusion and
exudative retinal detachment.
Issues for Refenal
Angle-<:losure glaucoma.
Calilract Holladay 2 and Hoffer Q fonnulas are
appropriate for IOL power calcuIation.
ChDroidaI or reli nal pathologies.
I
443
NASOLACRIMAL DEVELOPMENTAL ANOMALIES
Eileen X Wang
Alex V. Levin
GENERAL PREVENTION
Genetic counseling

Anomalies occurring during the development of the Failure of invagination of surface ectoderm between Presence of birth defectslsyndromic fearures
the maxillary and frontonasal processes {1 ,2) Family history of nasolacrimal disorders
nasolacrimal system
Includes: Supernumerary lacrimal puncta, accessory Incomplete separation of the buried epithelial cord Symptoms of tearing, discharge, or recurrent
canaliculus. fistula or diverticulum of from its surface epithelium origin dacryocystitis
canaliculus/lacrimal sadnasolacrimal duct, agenesis Abnormal epithelial outbudding from the buried
cord PHYSICAL EXAM
or atresia of puncta or canaliculus Findings during full ocular exam may include:
Incomplete canalization at any point along the
EPIDEMIOLOGY nasolacrimal system - Swelling and/or redness in medial canthal region
lnddence secondary to nasolacrimal system infection or
Unknown but rare ETIOLOGY inflammation
Unknown when isolated - Discharge from puncta with application of
Prevalence Associated with systemic syndromes or pressure on lacrimal sac
Rare dysmorphism that may affect the development of Assess for patency and presence of puncta and
RISK FACTORS the nasolacrimal system {1) papillae
A variety of genetic syndromes are associated with COMMONLY ASSOCIATED CONDITIONS Full exam for systemic abnormalities or dysmorphism
nasolacrimal developmental anomalies particularly See "Risk Factors
those associated with lid abnormalities (e.g., DIAGNOSTIC TESTS & INTERPRETATION
Treacher Collins), branchial arch syndromes, and Lab
Down syndrome (especially lacrimal fistula) (1 ,2). Initial lab tests
Amniotic bands and other forms of facial clefting None unless infection suspected {consider conjunctival
swabs for culture or septic work-up if systemically
Genetia unwell/cellulitis present)
Genetic patterns would be those of any underlying
Follow-Up & Special Considerations
syndrome.
Anomalies associated with obstruction within a
Congenital lacrimal fistula may have autosomal system that is at least partially patent proximally may
dominant inheritance (3). be at risk for dacryocystitis and cellulitis.
443A
NASOLACRIMAL DEVELOPMENTAL AIIOMALIES
Imaging SURGERY/OTHER PROCEDURES REFERENCES

Initial approach o Probing and lr~gatlon Is the flm line of Intervention
Usually not indicated, rare~ daayocystography for both diagnosis and therapy if at least one 1. Yuen SJ, Oley C, Sullivan TJ. lacrimal outflow
punctum appears patent. dysgenesis. Ophlha/mology 2004; 111 (9):
Diagnostic l'roctHiures/Other 1782-1790.
Fluorescein dye disappearance test (3,4) Punctoplasty (1 )[C]
- One drop of 2% sodium fluorescein placed in the Excision of divertiOJia or fistulae (2,3)[CJ 2. Satchi K,. McNab AA Double laoimal puncta:
lower conjunctival OJI de sac Cauterization of fistulae (3)[C] clln leal presentation and potentia 1 mechanisms of
-Amount of fluorescein remaining In tear film after epiphora. OP,Ihalmo/ogy2010;117(1):
Dacryocystorhinostomy with or without intubation
5 minutl!s graded 0 (none) to 4+ (all) (1-3)[(] 18D-183.e2.
NIJTE: If symptoms are minimal and tolerated by the
3. Maden A, Yllmaz S, Ture M. Hereditary lac~mal
DIFFERENTlAL DIAGNOSIS fiStula. Orbit 2008;27(1 ):69-72.
Nasolaaimal duct obstruction patient, and there are no complications such as
Infectlon, then treatment Is elective. 4. Tanenbaum M, McCord Jr CD. Lacrimal drainage
o Glaucoma system. In: Tasman W, Jaeger EA. eds. Duane's
o Lacrimal sac mucocele (dacryocele) INPATlENT CONSIDERATIONS op/Jiha/mo/ogy. Philadelphia, PA: Lippincott
Initial Stabilization Williams & Wilkins, October 2008 update: chap. 13.
See "Dacryocele" chapter
. TREATMENT Admission only required if cellulitis or daoyocystitis
MEDICATION
is present . CODES
First Line
May need systemic antibiotics if nasolacrimal system ICD9
ONGOING CARE 743.65 Spedfled congenital anomalies of lacrimal
infectioo is present
FOLLOW-UP RECOMMENDATIONS passages
ADDITIONAL TREATMENT As needed for treatment of symptoms or post-surgical 253 218002 supernumerary lacrimal punctum
lssws for Refrmal care (disorder)
o Need for genetic counseling if associated with 253 220004 congenital lacrimal fistula (dlsorde~
system lc syndromes Patient MonhDrlng
Monitor for secondary infection
o OOJioplastic consult may be needed.
Excellent
THERAPIES o Patients presenting with complaints of tea ring or
None known COMPLICATIONS nasolacrimal system infection need a full ocular
Cellulitis exam.
Dacryocystitis Externally, one can assess for supernumerary
lac~mal puncta, agenesis or atresia of P4Jncla, or
"fistula which open to the skin.
If papilla absent. suspect agenesis of punctum and
canaliculus.
Probing and irrigation may be needed to define the
anatomy of the nasolaaimal system anomaly.
I
4438
NASOLACRIMAL DUCT OBSTRUCTION
Behin Barahimi
PATHOPHYSIOLOGY
Primary-acquired NLDO is associated with a
fibre-inflammatory process of unknown etiology
DESCRIPTION (l)]C]. HISTORY
The nasolacrimal duct is a bilateral structure that Secondary-acquired NLDO can be divided up into Patients often complain of c.onstant tearing that is
carries tears from the lacrimal sac into the nasal the following categories: infectious. inflammatory, usually unilateral. They may also report blurry vision,
cavity at the level of the inferior turbinate. neoplastic, traumatic, and mechanical. difficulty reading and driving because of epiphora.
Obstruction along the course of the duct can lead to - Infectious: bacteria, viruses, fungi, and parasites One study found that over 65% of patients were
epiphora or dacryocystitis (l)[C]. have all been reported as causes. embarrassed by their tearing problem (2)]8].
The cause of acquired nasolacrimal duct obstruction - Inflammatory: endogenous causes such as
(NLDO) in adults can be divided into primary and
PHYSICAL EXAM
sarcoidosis or exogenous causes such as radiation Examine position of eyelids, lashes. and puncta as
secondary. Congenital NLDO will be discussed or topical eye drops. alternate causes for tearing.
separately. - Neoplastic: Primary or metastatic lesions, both of
Thorough exam of the eyelid, conjunctiva, cornea,
which are rare. The most common primary lesions
EPIDEMIOLOGY and anterior chamber is needed to rule out other
are squamous cell papi 11om a and squamous cell
Incidence causes of epiphora listed in the differential
carcinoma. Less common tumors consist of
The incidence from one retrospective study was diagnosis.
transitional cell carcinoma, adenocarcinoma,
estimated to be 20.2 per 100,000. There are no fibrous histiocytoma, lymphoid lesions, and Increased tear lake, >2 mm is suggestive of NLDO
population-based studies in the literature evaluating melanoma. (1)]C].
NLDO (3)[C]. -Trauma: Iatrogenic from lacrimal probing or sinus Palpate the lacrimal sac. Reflux of purulent material
The male to female ratio of NLDO is 1:3 (3)[C] Some surgery, and non-iatrogenic usually causing is indicative of NLDO. Palpation of a firm mass
have postulated that the higher incidence amongst canalicular laceration above the medial canthal tendon is concerning for a
women is due to a nasolacrimal duct with a smaller - Mechanical: Foreign bodies, dacryoliths, or casts neoplasm.
diameter (4)[C]. can physically block the duct (l)]C]. Examine the nasal cavity as neoplastic,
Prevalence inflammatory, and structural disorders of the nasal
ETIOLOGY passage that can cause NLDO.
Unknown See Pathophysiology.
RISK FACTORS DIAGNOSTIC TESTS & INTERPRETATION
Use of topical eye medications (usually seen in Sarc.oidosis
Lab
patients in glaucoma drops) Lab testing is not diagnostic in NLDO
Wegener's granulomatosis
Previous facial trauma If purulent discharge is elicited from lacrimal sac
Ocular cicatricial pemphigoid
Previous sinus or nasal surgery massage, c.ollect it for Gram stain, culture, and
Scleroderma sensitivity testing.
Recurrent dacryocystitis
Herpetic keratitis/conjunctivitis
Recurrent conjunctivitis Imaging
History of chemotherapy
History of systemic chemotherapeutic agents such as If neoplastic etiology is of concern, then CT or MRl is
5-fluorouracil or Taxotere History of radiation warranted.
Glaucoma Optional work up, rarely necessary
GENERAL PREVENTION
Wear protective eyewear with polycarbonate lenses, Dacryoscintigraphy with technetium-99 m: Assess
especially during high-risk activities such as sports functionality of lacrimal system.
to prevent trauma. Dacryocystography: Visualize anatomy of lacrimal
Discuss punctal occlusion when patients are on system.
chronic eye medications for glaucoma to minimize
exposure to the nasolacrimal duct.
In majority of cases, NLDO is unavoidable.
444
NASOLACRIMAL DUCT DBSTBUCTION
Diagnostic ProCIIrJu/WSIOthaT o BaIIcon dacryoplasty: This procedure has lower REFERENCES

Irrigation and Probing success rate, but may be heIpful with partial
Jones 1: Functional test nasolaalmaI duct obstruction. It Is often successful 1. Mills DM, Meyer DR. Acquired nasolacrimal duct
Jones II test: Anatomic test for congenital NLDO. obstruction. Otolaryngol Clln NAm 2006;39:
Schirmer test: Measure basal and stimuli!ted tears o Probing: This has not been lound to be benefidal far 979-999.
acquired NLDO, but is often successful for 2. Cheung LM, Frands IC. Stapleton F. et al. ~ptom
l'athologlcal Findings congenital NLDO. assessment in patients with functional and primary
In the majority of cases, surgical spedmens will show acquired nasolacrimal duct obstruction before and
evidence af ch ronlc lnflammat!on. However, In cases IN-PATIENT CONSIDERATIONS after successful dacryocystorilinostomy surgery: A
where there Is an underlylng systemic cause such as Admission Criteria prospective study. Br J O(ilrhalmology 2007;91 :
sarcoidosis. Wegener's granulomatosis. neoplasm, and Secondary orbital cellulitis is rare but would require 1671-1674.
so fonh, the pathology can be diagnostic. For example. admission if it should develop. Otherwise, NLDO is 3. Woog JJ. The incidence af symptomatic acquired
in sarmidosis, granulomas will be seen on pathology. treated on an outpatient basis. lacrimal outflow obstruction among the residents
DIFFERENTlAL DIAGNOSIS of Olmstead County, Minnesota. 1976-2000.
Dry eye syndrome ONGOING CARE Trans Am Ophthalmol Soc 2007;1 05:649-666.
Blepharitis 4. McCorm lck. A. Sloan B. The diameter of the
Conjunctivitis FOLLOW-UP RECOMMENDATIONS nasolacrimal canal measured by computed
Trichiasis After DCR. the silicone tube should be left In place for tomography: Gender and radal difference. Clin Exp
Corneal foreign body at least 1 month and in some cases, up to 6 monlhs. OphtJuJimo/ 2009;37:357-361 .
Entropion l'atlent Monlflorlng 5. Patel BC. Management of acquired nasolacrimal
o After OCR surgery, a IWI!Ek follow-up I!Xllm is done duct obstruction: External and endonasal
Ectropion dacryocystorhinostomy. Is there a th lrd w{l Br J
Corneal abrasion to ensure tllat the silicone tube is in the appropriate
position. Ophthalmo/ 2009;93(11):1416-1419
Angle closure glaucoma
If the rube begins to extrude, it can gently be
L.aaimal sac tumor
rJ
MEDICATION
TREATMENT
reposited. Contact your physidan for any concerns..
DIET
There are no dietary recommendations for NLDO.
PATIENT EDUCATION
ADDITIONAL READING
o Nesi F. Levine M, Usman R. Smith's Ophthalmic:
Plastic and Reconstructive Surgery. 2nd ed.
1998:661~9.
FimLine Educate patients on the function of the nasolacrimaI
Definitive treatment is surgery; however, the presence duct and the anatomy of the laaimal system, so that
of stagnant tears from NLDO can cause an infectious they have a better understanding of the signs and . CODES
dacryocystitis. Treatment with oral antibiotics is symptDms caused by NLDO.
necessary to prevent dt!velopment of pre-sep1al or Inform patients that they will have epiphora after ICD9
even orbital cellulitis. Cultures help guide antibiotic OCR surgery because af the silicone tube. Once the 375.22 Epiphora due to insufficient drainage
choice. Be suspldous for Actfnom}a.SI nfectlons and tube is removed, the tearing will decrease. 375.30 Dacryocystitis, unspedfied
the need to remove canalicular stones (1)[C]. 375.56 Stenosis of nasolacrimal duct, ac:q uired
PROGNOSIS
ADDITlONAL TREATMENT Good, as the success rate of DCRranges between
Issues for RefeiT81 75-95% (3)[C], (S)[C].
If the epiphora caused by NLDO Is affect! ng the COMPUCATlONS
CLINICAL PEARLS
pi!tient's quality of life, or if there is concern for an Epiphora
o o In addition to visual symptoms, acquired NLDO can
infection, refer to ophthalmology. o Bloody tears have serious, adver~ emolionaI and sociaI effects
SURGERY/OTHER PROCEDURES o Purulent discharge on patients.
Dacryocystominostomy (DCR) bypasses the usual o Dacryocystitis Surgical procedures avaiIable for NLDO have good
site of obstruction In the distal nasolaalmal duct Pre-septal cellulitis success rates and can improve the daily living of
and creates a new opening at the level of the middle o Orbital cellulitis patients.
turbinate. A silicone tube is placed ensuring that the o Patients who complain of persistent epipl1ora, that is
o Rare: CSF leak. or meningitis
new osti urn remains patent. The procedure can be decreasing their quality of life should be referred for
done with an external or endoscopic approach. Each ophthalmology evaIui!tion.
procedure has its disadvantages but both are
acceptable treatments with com parable success
rates (S)[CJ.
I
445
NASOLACRIMAL DUCT OBSTRUCTION IN CHILDREN
Behin Barahimi
~ BASICS ETIOLOGY
Unknown
Lab
COMMONLY ASSOCIATED CONDITIONS Initial lab tests
DESCRIPTION None
The most common congenital abnormality of the Down syndrome
Craniofacial abnormalities Follow-up ll special considerations
lacrimal drainage system
Preauricular sinus Should erythema and swelling with or without a mass
The nasolacrimal duct is a bilateral structure that develop in the area of the medial canthus or the
carries tears from the lacrimal sac into the nasal Other systemic syndromes characterized by
oculofacial involvement inferior medial aspect of the lower lid, suspect
cavity with an opening, the inferior meatus, under dacryocystitis/infected lacrimal sac mucocele and treat
the inferior turbinate. Majority of cases have no associated systemic
urgently with referral to ophthalmology.
Congenital nasolacrimal duct obstruction (NLDO) disease
reportedly affects 6-20% of neonates. In 90% of Imaging
the cases, symptoms spontaneously resolve by
12 months (1 )[C].
~ DIAGNOSIS In the majority of cases, no imaging is needed.
Consider CT scan if craniofacial abnormality or
HISTORY trauma (2)[C].
EPIDEMIOLOGY
Parents usually report history of epiphora that may Diagnostic Procedures/Other
lnddence or may not be accompanied by a mucopurulent
6-20% of neonates are born with symptoms on
Dye Disappearances Test: A drop of fluorescein is
discharge placed in the eye and visualized with a cobalt blue
NLDO, with the majority having spontaneous
Epiphora may not occur until later in infancy light. If pooling persists in the eye after 5 minutes, or
resolution (1)[C].
- Disdlarge usually mucoid, clinging to lower significantly longer than the uninvolved eye, the test is
Prevalence lashes, not associated with conjunctival injection positive for an obstruction. When fluorescein is found
Most common lacrimal system anomaly in dlildhood. - Discharge worse upon wakening from sleep. in the nasal cavity, most commonly by inserting a
RISK FACTORS Eyelashes often stuck. together cotton swab through the nares. then the system is
Patients with some craniofacial malformations, Down - May be worse with upper respiratory tract patent.
syndrome, and a wide variety of other syndromes with infection or outdoors on windy days DIFFERENTIAL DIAGNOSIS
craniofacial or oculonasal malformations (e.g., PHYSICAL EXAM Dacryocele (lacrimal sac mucocele)
Cornelia de lange, Johanson-Blizzard) are at increased Eyelashes may appear maned or wet. Congenital entropion/ectropion
risk for NLDO as well as other nasolacrimal system Digital pressure on the lacrimal sac can cause reflux Epiblepharon
anomalies. of purulent material by puncta. Tridliasis
Genetics Chronic skin changes of lower lid Congenital/infantile glaucoma
There is no lmown specific causative genetic Increased tear lake may be visible on the side that Infectious conjunctivitis or keratitis
abnonmality but the incidence is higher within has NLDO. If there is bilateral NLDO, this will be Uveitis
families. difficult to defect. Foreign body
-When associated with underlying genetic systemic Careful examination ofthe eyelid, conjunctiva, and
syndromes, the inheritance pattern of that Other lacrimal system (e.g., anomaly:
cornea should be performed to rule out other causes Punctal/canalicular stenosis/agenesis, lacrimal
syndrome applies although variable expression of of epiphora (see Differential Diagnosis).
the nasolacrimal duct anomaly may often be seen. fistula)
-little or no conjunctival injection
PATHOPHYSIOLOGY
The nasolacrimal duct canalizes by the eighth month
of gestation from the mesoderm centrally and from the
surface ectoderm distally. A thin mucosal membrane
at the distal end (Valve of Hasner) causes congenital
NLDO.
446
NASOLACRIMAL DUCT OBSTRUCTION IN CHILDREN
Nasolacrimal duct intubation: A monacanalicular or REFERENCES

. TREATMENT bicanaliwlar tube can be left in place for several
1. Puvanachandra N. Trikha A, MacEwen CJ, et al. A
months at the time of probing. One disadvantage is
MEDICATION that the tube does need to be removed and some national survey of the management of congenital
RrstLine cl111dren may not tolerate thIs In the office req ulrlng nasolacrimal duct obstruction In the Unlted
Massage of lacrimal sac should be the first line of sedation. In a prospective study the suc:cess rate of Kingdom. 1 Pediatr Ophlha/mo/ Sttabismus
therapy. h Is theo~zed that this will Inaease the intubation was !11 '!1. {S)[B]. Most often this is 201 0;47(2):76-80.
hydrostatic pressure in the lacrimal system allowing reserved for older children and children who have 2. Takahashi Y, Kakizaki H, Chan WO, et al.
the membranous obstruction to rupb.ue (2)[C]. failed standard probing once or twice. Management of congential nasolacrimal duct
- Call!lalcer should place forefinger on medial obstruction. Acta Ophlha/mo/ 201 0;88(5):
Daayocystorhlnostomy: This Is usually a last resort 506-513.
canthal ligament and push posteriorly (towards for patients who have had multiple failed
occiput) to compress underlying laalmal sac, 3. Pediatric Eye Disease Investigator Group. Primary
procedures.
3-4 times daily. Often done with feedings. treatment of nasolaaimal duct obstruction with
IN-PATIENT CONSIDERATIONS probing in children less than four years old.
SecondUne Ophthalmology 2008;115(3):577-584.
Antibiotics therapy should only be used if there Admission Crltetfa
are signs of secondary infection (e.g., conjunctivitis) Admission only necessary if signs of dacryocystitis, 4. Pediatric Eye Disease Investigator Group. Primary
(2)[C). preoieptal or orbital cellulitis develop and Intravenous treatment of nasolaaimal duct obstruction with
antibiotics are needed. balloon catheter dilation in children less than four
ADDITlONAL TREATMENT years old. 1 AAPOS 2008;12(5):451-445.
lssuu for Refemll 5. Pediatric Eye Disease Investigator Group. Primary
A large percentage of babies are born with NLDO $ ONGOING CARE treatment of nasolacrimal duct obstruction with
and resolve within the first year of life. If by age FOLLOW-UP RECOMMENDATIONS nasolaalmal duct Intubation In children less than
12 months tearing persists. 1hen referral to an No follow-up required alter NLDO Is resolved. four years old. JAAPOS 2008;12(5):445-450.
ophthalmologist Is warranted. Severe NLDO with
copious discharge may be referred earlier, espeda lly Patient Monitoring
if there is no improvement with massage. Minimum massage time is 3 months ADDITIONAL READING
Concern for dacryocystitis or pre-septal cellulitis Monitor for signs of cellulitis/dacryocystitis until
NLDO resolved Nelson LB. Calhous JH, Mendula! H. Medical
.should be referred urgently to aphthaImology. management of congenital nasolacrimal duct
SURGERY/OTHER PROCEDURES DIET obstruction. Ophthalmology 1985;92(9):
If symptoms persist past the first year of life. and No dietary recommendations 1187-1190.
massage for at least 3 months has failed, surgery PATIENT EDUCATION
may be considered and is highly sucrusful in most Educate parents that this is a common problem that
cases. Earlier surgery may be considered in severe resolves spontaneously In the maJority of cases with . CODES
cases. The use of awake in office (as opposed to the assistance of massage. In situations where
general anesthesia) is controversia I. Ea~y surgery is surgery is needed, outcomes are excellent. ICD9
also indicated following secondary Patients with craniofadal abnormalities may have 375.22 Epiphora due to insufficient drainage
daayocystitislcelluIitis. lower success rates ev!!n with surgery. 375.55 Obstruction of nasolacrimal duct, neonatal
Probing: Probing is traditionally seen as first-line PROGNOSIS 743.65 Spedfied congenital anomalies of lacrimal
treatment (1)[C). Approximately 78% success rate Excellent passages
(3)[8].
Balloon catheter dilation: variation of standard COMPUCATlONS
probing. More costly. 82'!1. suc:cess rate reported in Mild transient nose bleeding after surgery CLINICAL PEARLS
the literature (4)[ B). May not be statistically CorneaI abrasion after surgery
significant. False passage created with probl ng The majority of patients with congenital NLDO will
have spontaneous resolution by the age of
Extrusion of tube
12 months using massage alone. If signs or
Daayocystitis/cellulitis symptoms of cellulitis/dacryocystitis occur, urgent
Complications of probing are extremely unmmmon referral to an ophthalmologist is indicated.
Although CNLDO is common, other conditions that
need Immediate attention such as congenhal
glaucoma can have similar presentation. Therefore,
a full eye examination is important.
I
447
NEONATAL CONJUNCTNITIS
Sharon S. Lehman
~ BASICS ETIOLOGY
Infectious: Gram-negative enteric bacteria,
Staphylococcus aureus (including
Lab
Initial lab tests
DESCRIPTION methicillin-resistant strains), Neisseria gonormea, Urgent Gram stain to identify gonorrhea
Conjunctivitis occurring in the first 4 weeks of life Streptococcus pneumoniae, Chlamydia trachomatis, Culture for bacteria. chlamydia. and viruses
EPIDEMIOLOGY and herpes simplex virus Coordinate with lab for special stains (Giemsa for
Incidence Noninfectious: Silver nitrate toxicity, topical chlamydia), culture media (chocolate agar for
gentamicin toxicity gonorrhea), and rapid tests (for chlamydia)
US:
-Gonococcal: 0.3/1,000 births COMMONLY ASSOCIATED CONDITIONS Follow-up ll special considerations
- Chlamydia!: 8.2/1,000 births Maternal infection (known or unknown) If sexually transmitted disease is identified, mother
Developing countries: 1s--60% of live births Premature or prolonged rupture of placental and her sexual partners should be referred for
Gonorrhea is a major cause of childhood blindness membranes testing and, as needed, for treatment.
in some countries. Gonorrhea: Corneal perforation If sexually transmitted disease is identified, test child
Herpes: Skin lesions, encephalitis, and viral sepsis for other organisms: HIV and syphilis.
RISK FACTORS
Maternal systemic infection Gentamicin toxicity: Lid skin erosions Imaging
Premature or prolonged rupture of placental CT/M Rl of brain if herpes simplex virus is identified
membranes
Low birth weight
~ DIAGNOSIS or child is systemically unwell
CT/M Rl if concern about secondary periorbital or
HISTORY orbital cellulitis
Nasal cannula, mask. or ventilator use
Ophthalmologic examination and speculum use Maternal/birth Diagnostic Procedures/Other
Use of silver nitrate or gentamicin for prophylaxis - Quality of prenatal care Lumbar puncture if child is systemically unwell or
-Systemic infection and history of sexually concern about herpes simplex encephalitis
Failure to use prophylaxis
transmitted disease
Folk treatments including urine instilled into the eyes Pathological Findings
- Paternal or maternal gen itaI discharge
Biopsy not typically performed
Genetia - Premature or prolonged rupture of placental
Gonorrhea: Gram stain shows intracellular
No known contribution membranes
gram-negative diplococci
GENERAL PREVENTION Infant
- low birth weight Chlamydia: Intracellular inclusions in conjunctival
Proper prenatal care epithelial scraping
- Systemic disease and immunodeficiency
Universal precautions and maintenance of sterility
- Prophylaxis not given DIFFERENTIAL DIAGNOSIS
Ocular prophylaxis immediately after birth: - Use of silver nitrate or gentamicin prophylaxis Nasolacrimal duct obstruction
Preferably 0.5% erythromycin ointment (1)1AI -Ocular examination, use of nonsterile Neonatal blepharitislblepharoconjunctivitis
- Povidone-iodine solution is effective, safe, and speculum/instruments Diffuse retinoblastoma
cost effective but not yet approved in the US or - Requiring respiratory support Neonatal leukemia with ocular involvement
Canada (2)1A], (3)IAI.
PHYSICAL EXAM Uveitis due to prenatal infection
- Respiratory organisms through respiratory Systemic physical examination Epiphora due to congenital/infantile glaucoma
rJ
supportive care (especially intubation or mask) Complete ocular exam including dilated retinal
- Discourage folk treatments of conjunctivitis examination to rule out intraocular involvement if
PATHOPHYSIOLOGY infectious etiology TREATMENT
Inoculation by maternal or iatrogenic routes - Eyelids: Edema and erythema, lid skin erosions in
gentamicin toxicity MEDICATION
Deficient infant immune defense mechanisms Chlamydia trachomatis
Chemical irritation: Silver nitrate and gentamicin - Conjunctiva: Chemosis and injection (Note:
Absence of conjunctival injection suggests - Systemic therapy necessary to prevent respiratory
ointment infection (pneumonitis)
nasolacrimal duct obstruction as cause of
discharge) - Erythromycin estolate 40-50 mg/kg per day in
- Discharge: Bacterial infection and silver 4 divided doses for 14-21 days; maximum dose:
nitrate/gentamicin toxicity: Mucopurulent, viral 2 g/day
infection may be clear discharge -Topical therapy optional, erythromycin ointment
-Cornea b.i.d.
o HSV: Dendrite, stromal infiltrate, or geographic Neisseria gonorrhea
erosion of co meal epithelium - Single dose of ceftriaxone (2 5-50 mg/kg, not to
o Gonorrhea: Ulcer, possible perforation exceed 125 mg) IV or IM in healthy infant with
uncomplicated conjunctivitis
- Cefotaxime (1 00 mg/kg) IV or IM, also acceptable
in uncomplicated cases
-Topical therapy: Topical antibiotic, optional
-Note: Penicillin alone is not a satisfactory
treatment.
448
NEONATAL CONJUNCTIVITIS
Herpes simplex virus IV Fluids 3. Keenan JD, Eckert S, Rutar T. Cost Analysis of
- Acyclovir 60 mg/kg per day In 3 divided doses IV As needed. pov1dln~locllne for ophthalmia neonatorum
for 14-21 days and possibly longer, as determined Nursing proph)iaxis. Ardl Ophthalmol 201 0;128(1):
by the pediatrician. AppropriatE isolation/precautions 136-137.
-Topical trilluridine 1% may be used ewry 4. Sahu DN, Thomson S, Salam A, et al. Neonatal
1-2 hours (not to exceed 9 times per day) for Discharge Criteria methldllln reslstam Staph)iococcus au reus
1-2 week and lilpered. When parenteral antibiotics are completed, the child is canjunc:tivitis. Br1 Ophtha/mo/ 2006;90(6):
-Topical stEroids should be avoided. systemically well, and the parents are able to continue 794-795.
Other bacte~al care as needed.
- Therapy based an Gram stain and cuiIllre resu Its
-Consider coverage for MRSA (4)[C]. ONGOING CARE ADDITIONAL READING
Chemical whqlibdoc.who.intlbulletin12D01fiSSue3/79(3)262-
- Discontinue offending agent. FOLLOW-UP RECOMMENDATIONS
As needed for amblyopia therapy, if corneal scar is 266.pdf
- Treat far inflammatory response and/or secanda ry
infection. present.
-Usually self-limited l'ilfiwlt Nlonitoring
ADDITIONAL TREATMENT Visual aOJity as needed far amblyopia therapy, if . CODES
GefHmlll Measuffls corneaI scar is present.
Saline lrrlgadon eveiY 2 hours to clear mucopurulent DIET ICD9
discharge No spedal dielilry recommendations. 098.40 Gonococcal con] uncdvltls (neonatorum}
Issues for Refetral 771.6 Neonatal conjunctivitis and dacryocystitis
PATIENT EDUCATION
Cornea consult If perforadon or Impending If sexually transmitted disease, mother and her sexual
perforation partners should be referred fur diagnosis, treatment.
-Cornea consult if nanresolving corneal lesion due and counsel ing.
CLINICAL PEARLS
to herpes ~consider gonorrhea In the evaluatloo of
PROGNOSIS
Additional Therapies Uncampi iCilted-excellent purulent neanatal conjunctivitis and evaluatE
As indicatEd by medical condition and etiol agic Complicated with corneal scar-variable depending urgently.
agent. upon severity and compliance with amblyopia ~consider possibility of methidllin-resistant
COMPLEMENTARY & ALTERNATIVE therapy Sraph]40COUS aureus (MRSA) In the evaluation of
THERAPIES GonOIThea comeal perforation-poor prognosis purulent neanatal conjunctivitis. If no discharge and
no red eye, consider nasolacrimal duct obstruction
Not Indicated COMPLICATIONS or congenltalllnfandle glaucoma.
Do nat use breast milk or urine in eyes. Permanent Iris/on loss from amblyopia due to corneal Do notre~ an Gram slilin results alone but in case
SURGERY/OT11ER PROCEDURES scar of gram-negative intracellular diplococci, treat
Nat typically necessary (excep1 fur trlch lasls and urgently as gonorrhea.
scarring as long term result of chronic cfllamydia REFERENCES Avoid use of topical silver nitrate or gentamidn for
trachamatis}. prophylaxis.
1. Ame~can Academy of Pediatrics. Prevention of If sexually transmitted disease, refer mother and her
ophthalmia neonatorum. In: Pickering LIC, Baker 0, sexual partners for tesdng, treatment, and
Initial StablllzatiGn Kimberlin OW, Long SS (eds). Red Boot 2009
Pediatric consultation if child systemically unwell or caunseIing.
Report of the Committee on Infectious Diseases. If herpes simplex is suspected, consider possible
other concerns. 28th ed. Elk Grewe Village, IL: AM', 2009:827-329. encephalitis and 'ltral sepsis.
Admission Crherla 2. RichtEr R, Bel aw H, Kadow I, et aI. Effl!ct of tapicaI
Systemically unwell 1.25% povidine-iodine eyedrops used for
Urgent hospital admission suggested for all purulent proph)iaxls of ophthalmia neonatorum on renal
suspected bactErial conjunctivitis until etiology clear iodine excretion and thyroid-stimulating hormone
and far neonalill herpes simplex conjunctivitis. IIM!I. J Pedilltr 2006;148:401-403.
I
449
NEOVASCUlAR GlAUCOMA
Elyse R. Trastman-Caruso
~ BASICS Retinopathy of prematurity Follow-up It special considerations

Carotid-cavernous fistula Gonioscopy/examination every month for the first
Takayasu disease 4 months after CRVO, since rubeosis classically
DESCRIPTION appears 3 months after ischemic CRVO in 50% of
Giant cell arteritis
Glaucoma caused by neovascularization of the angle eyes and 80% appears in the first 6 months
and pupillary margin with contraction of Anterior segment ischemia (previous strabismus
surgery) Monthly follow-up needed for nonischemic CRVO
myofibroblasts. This leads to peripheral anterior since 15% of non ischemic CRVO converts to
synechiae and eventual angle closure glaucoma. Trauma
ischemic CRVO within B months and 33% convert in
In the early stages. the abnormal blood vessels can COMMONLY ASSOCIATED CONDITIONS 3 years.
regress after panretinallaser (PRP) or Bevacizumab Diabetes
treatment. DIFFERENTIAL DIAGNOSIS
High blood pressure
Uveitic glaucoma
In later stages. when fibrovascular ingrowth and Atherosclerotic disease
contraction of the drainage angle occur, medical Fuchs heterochromic iridocyclitis
therapy becomes less effective for intraocular
pressure control.
Synonym(s): Hemorrhagic glaucoma, congestive
glaucoma, rubeotic glaucoma, and thrombotic
~ DIAGNOSIS
HISTORY
Red, painful eye
rJ TREATMENT
MEDICATION
glaucoma. Pressure sensation Anti-VEGF(anti-vascular endothelial growth factor)
EPIDEMIOLOGY Photophobia intravitreal injections with PRP (1)[8], (2)[8]
lnddence Decreased vision - Avastin (Bevacizumab)
Rare - Macugen (Pegaptanib sodium)
PHYSICAL EXAM
Increased in diabetic patients after lens removal and New blood vessels at the pupillary margin - lucentis (Ranibizumab)
vitrectomy or any breach in the posterior capsule. (either 1 mg/0.05 ml, 1.2 5 mg/0.05 ml, or
Gonioscopy- new blood vessels in angle or hyphema
Prevalence Indirect ophthalmoscopy- look for the underlying 2. 5 mgf0.05 ml)
More prevalent in elderly patients cause: Aqueous suppressant eye drops: Beta blockers,
Prevalence of neovascular glaucoma (NVG) in - CRVO- venous engorgement, retinal hemorrhages, topical and oral carbonic anhydrase inhibitors
diabetes is overalll%, but 21% of those with disc swelling. cotton wool spots. and macular (Diamox), Brimonidine
proliferative diabetic retinopathy. edema Contraindicated- Pilocarpine
23--33% of patients with ischemic central retinal - Long-standing ischemia - optociliary shunt vessels Steroid drops for the inflammatory response
vein occlusion (CRVO) develop NVG with the - Choroidal Tumors Atropine (cycloplegics)-decrease ocular congestion
prevalence of CRVO ranging from 0.1--0.7%. - Retinoblastoma (in kids) and prevent ciliary muscle spasm
- CRAO-cherry red spot
RISK FACTORS ADDITIONAL TREATMENT
- Proliferative diabetic retinopathy
Any process that involves retinal ischemia (see General Measures
- Ocular ischemic syndrome- midperipheral
Etiology section). limiting carbohydrates in diabetics
hemorrhages. central retinal artery collapses with
The most frequent risk. factors are the presence of a mild digital pressure on the globe limiting salt intake in hypertensive patients
CRVO or proliferative diabetic retinopathy.
DIAGNOSTIC TESTS & INTERPRETATION Issues for Referral
PATHOPHYSIOLOGY Retinal specialist- for PRP and Avastin
Retinal hypoxia causes production of factors Lab
Depends on etiology: SURGERY/OTHER PROCEDURES
promoting angiogenesis including vascular
endothelial growth factor (VEGF). Fasting glucose, Hemoglobin A1c Panretinal photocoagulation (PRP)can be done with
New blood vessels form in the anterior and posterior Blood pressure, cholesterol slit lamp laser, indirect laser, or endolaser at the time
segment following chronic retinal ischemia. ESR (anyone >50 yrs old with CRAO or suspected of vitrectomy (1 )[A] 1500-2000 burns with
autoimmune/inflammatory disease) 500 micron spot size.
ETIOLOGY
Hyperviscosity workup- young patients with CRVO Argon, Krypton, or Diode laser (Krypton and Diode
Central retinal vein occlusion (CRVO)
Imaging better with media opacities or blood)
Proliferative diabetic retinopathy
Initial approach Central Retinal Vein Occlusion Study (3)[A]-PRPif
Carotid artery occlusive disease ischemic CRVO caused 2 clock hours of iris
Central retinal artery occlusion (CRAO) Fluorescein angiography- to further delineate the
underlying cause and the amount of neovascularization or any angle neovascularization.
Branch retinal vein occlusion Trabeculectomy with Mitomycin C-possible, if eye is
neovascularization and retinal ischemia
Intraocular tumor ("to assess ischemic versus nonischemic CRVO) quiet 1 month after PRP/medical therapy; 61%
Chronic retinal detachment B-scan, if no view of posterior fundus to eliminate qualified success rate with concurrent Avastin
Uveitis-glaucoma-hyphema syndrome tumors as the etiology of rubeosis intravitreal injection (2)[8]
Chronic or severe ocular inflammation ERG- can be used to assess retinal ischemia when
Radiation retinopathy there is no view of the fundus due to lens opacity
Coats disease Carotid ultrasound/echocardiogram- in CRAO and
Sickle cell retinopathy ocular ischemic syndrome
Eales disease
450
NEOYASCULAR GLAUCOMA
Tub!! shunt with patdl graft PATIENT EDUCATION 4. Nedand PA. The Ahmed glaucoma valve in
- Ahmed (52 or FP): Especially If history of mu1t1pie The Importance of preventive medldne and routine neovascular glaucoma (An AOS Thesis). Trans Am
surgeries; success rates vary in the literature but follow-up with the patlerrt's lmernlst Ofi!thalma/ Soc 2009;107:325-342.
Netland et aI. had a 73.1 % suc.cess rate at 1 year The need for at least routine yearly ophthalmologic 5. Sidoti PA, Dunphy TR, Baerveldt G, et al.
that decreased to 20.6% at 5 years (4)[B]. examinations in patients >SO years and in all Experience with the Baerveldt glaucoma implant in
- Baerveldt tube shunts vary in success as well, with diabetics to improve prognosis with early diagnosis treating neovascular glaucoma. Ophthalmology
Sidoti et al. showing a 56% success rate at and treatment. 1995;102(7):1107-11 18.
18 months (S)[B]. PROGNOSIS
CPC (cyclophotocoagulation) (Diode or Nd:YAG Guarded prognosis: Suc.cess depends on prevention
transscle!i!llaser): If poor visual poterrtial or poor and treatment of neDYiiSCular glaucoma early in its . CODES
surgicaI candidate course and the ability to control the underlying disease
EndocyclophotDCoagulation similar to CPC but process. ICD!t
done through an lntraocular approach 362.02 Proliferative diabetic retinopathy
COMPUCATlONS 362.35 Centli!l retinal vein occlusion
Radiation or enudeatlon for tumor-associated Chronic pain
rubeosis 365.63 Glaucoma assodated with vascular
Complete loss of vision disorders of eye
IN-PATIENT CONSIDERATIONS Choroidal effusions
Initial Stabilization Suprachoroidal hemorrhage
Diabetes or blood pressure control p~or to surgery Phthisis CLINICAL PEARLS
Treatmerrt of hypercoagulable states if present Loss of eye
Gonioscopy Is keyI Diagnose early by perfonmlng
Admwlon Crlterla gonioscopy and identify early signs of
Inpatient admission required only in those patierrts REFERENCES neOYaSCUiarization.
who have uncontrolled systemic medicaI conditions. Conlin uity of care and communication between the
Nursing 1. Sivak.-Callcott JA, O'Day DM, et al. Evidence-based glaucoma and retinal specialists and the patient's
IV lnsenlon and EKG manItoring perloperatlvely and recommendations for the diagnosis and treatment primary care pl1ysician is imponant to maximize the
when IV mannitoI is used to decrease vitreous of neovascular glaucoma. Ophthalma/ogy 2001; patient's general health and visual potential.
volume. 1DB(1D):1767-1776. Arrti-VEGF irrtravitneal injections and PRP are the
Discharge Criteria 2. Fakhraie G, Katz U, Prasad A. et aI. SUrgical mainstay5 of treatmerrt of neovascularization.
outcomes of lntravltreal be>.'aclzuma.b and guarded If the intraocular pressure fails to he controlled with
Once systemic medical conditions ane controlled filtration surgery in neDYiiSCular glaucoma.
J GlaiKDfTla 2010;19(3):212-218.
aqueous suppressants. guarded filtr.rtion procedures
or tube shunts can be performed with a decreasing
ONGOING CARE 3. The Central Vein Ocdusion Stuely Group. A success rate over a 5 year period.
randomized dinicaI trial of early pan retina I More, larger studies need to be done regarding the
FOLlOW-UP RECOM MENDA110NS photocoagulation for ischemic central vein long-tenm success rate of guarded filtration
Frequent follow-up is sdleduled depending on the ocduslon. The Cerrtral Vein Ocduslon Study Group procedures and tube shurrts in the era of anti-VEGF
patient's response to medical glaucoma therapy. Nrepon. Ofi!thalma/ogy 1995;102(10): medications.
If guarded filtration surgery or tube shunt is 1434-1444.
indicated, then standard postoperative care is
followed depending on the patient's dlnlcal
response and amount of filtration.
DIET
Blood pnessure, blood glucose. and d1olesterol
control
Anticoagulation and antiplatelet agerrts in those at
~sk for stroke
I
451
NEUROFIBROMATOSIS
Deepak P. Grover
Other manifestations of NF2:
- Neurological manifestations
o Nonvestibular schwannomas usually involving
DESCRIPTION HISTORY cranial nerves 3 and 5
Neurofibromatosis (N F) consists of 2 Neurofibromatosis Type 1 (NF1) o Dumbbell-shaped spinal cord schwannoma
neurocutaneous genetic disorders that can involve - Parents may notice their children to have o Spinal cord ependymoma, astrocytoma, and
the bones, the nervous system, soft tissue, and the cutaneous discoloration or pathologic fractures. meningioma
skin. It is the most common hereditary disorder - Patients may complain of pain caused by o Cranial nerve palsies from compression by
belonging to the group of hamartoses. neurofibromas or develop hypertensive headaches expanding vestibular schwannoma or
- NF1, also known as von Recklinghausen's NF, is caused by a pheochromocytoma. nonvestibular cranial nerve schwannoma
the most common subtype. Neurofibromatosis Type Z (NFZ) -Ophthalmic manifestations
- NF2 is also referred to as central NF. - Patients may present with gradual hearing loss, o Optic nerve sheath meningioma
tinnitus, or vestibular dysfunction secondary to o Combined hamartoma of the retina and RPE
EPIDEMIOLOGY vestibular schwannomas. o Epiretinal membrane
Incidence -A visual decline secondary to optic nerve sheath o Proptosis, strabismus
NF1: 1 case per 3,500 population meningioma, posterior subcapsular cataract,
NF2: 1 case per 37,000 population combined hamartoma ofthe retina and RPE, or DIAGNOSTIC TESTS & INTERPRETATION
RISK FACTORS epiretinal membrane may often be a presenting Lab
complaint. Initial lab tests
Genetics Gene sequencing, molecular testing, linkage analysis
Neurofibromatosis is an autosomal dominant PHYSICAL EXAM
Neurofibromatosis Type 1 (Z of 7 aiteria Follow-up & special considerations
disorder with complete penetrance and high
variability in its expression. Roughly half tend to be needed) For a suspected pheochromocytoma:
familial and the other half sporadic. It is - 6 or more cafe-au-lait spots or hyperpigmented - Plasma catecholamines and free plasma
independent of sex or race. macules :::5 mm in diameter in children younger metanephrine
than 10 years and to 15 mm in adults - 24-hour urine collection to measure urinary free
- NF1 -The NFI gene has been mapped to
-Axillary or inguinal freckles catecholamines (norepinephrine and epinephrine)
chromosome 17q11.2. The gene encodes the
- 2 or more typical neurofibromas or 1 plexiform and their metabolites (normetanephrine,
protein neurofibromin.
neurofibroma involving the upper eyelid metanephrine, and vanillylmandelic acid)
- NF2 - The NF2 gene has been mapped to
chromosome 22q 11. The gene encodes the - Optic nerve glioma (seen in 15--20% of patients) Imaging
protein merlin. - 2 or more Lisch nodules (iris hamartomas) Initial approach
- Sphenoid dysplasia or pseudarthrosis of Radiography
GENERAL PREVENTION long-bones - Plain films of long bones, spine, and ribs
Genetic counseling
-First-degree relative (parent or sibling) with NF1 MRVCT
PATHOPHYSIOLOGY Other manifestations of NF1 - NF1 is associated with optic pathway gliomas and
The gene products of the respective NF genes. - Neurological manifestations astrocytomas. Focal lesions of high signal intensity
neurofibromin for NF1 and merlin for NF2, act as o Seizure disorder on T2-weighted MRI are also noted in cerebellar
tumor suppressors. A decrease in function of these o Pilocytic astrocytoma, meningioma, peduncles, basal ganglia, brainstem and optic
proteins predisposes one to develop a variety of intramedullary glioma, and ependymoma radiations.
tumors involving the central and peripheral nervous o Vascular ectasias - Spinal cord tumor, mediastinal mass, deep
systems. o Aneurysms plexiform neurofibromas, pheochromocytoma
o Chiari type 1 malformations - MRl using 3D volumetrics is the preferred method
EnOLOGY
o Malignant peripheral nerve sheath tumors for following vestibular schwannoma growth for
Many different mutations in the neurofibromatosis
o Dumbbell-shaped tumors of spinal cord NF2 (1)[81
genes have been described respectively for both the
NFI or NF2 genes. -Ophthalmic manifestations
o Proptosis, strabismus Follow-up & special considerations
COMMONLY ASSOCIATED CONDITIONS -Bone manifestations Metaiodobenzylguanidine (M IBG) scintigraphy for
Moyamoya disease o Scoliosis, osteoporosis pheochromocytoma if MRI/CT is not conclusive
-A progressive occlusive disease of the cerebral - Other disorders Positron emission tomography (PED scan for tumor
vasculature with particular involvement of the o Essential hypertension surveillance
Circle of Willis o Pheochromocytomas Gallium-67 scintigraphy for malignant large
- Linkage studies have linked one of the genes for o Renal artery stenosis plexiform neurofibromas
familial Moyamoya disease to chromosome o Precocious puberty Electroencephalogram (EEG)
17q25, which is in close proximity to the NFI o Gastrointestinal stromal tumors
gene.
o Learning disabilities or mild/moderate mental
Neurofibromatosis Type 1
- Children often present with signs and symptoms retardation -Slit-lamp examination for Lisch nodules
of cerebral ischemic events, whereas. adults may o Vitamin D deficiency
present with signs and symptoms of subarachnoid Neurofibromatosis Type 2
Neurofibromatosis Type Z (1 of Z aiteria -Dilated fundus examinations for inspeaion of
or intracerebral hemorrhage. needed)
juvenile cataracts or retinal lesions
- Bilateral cranial nerve eighth masses visualized on - Brainstem auditory-evoked response (BAER) for
MRI early hearing loss
-First-degree relative (parent or sibling) with NF2
and either:
o A unilateral eighth nerve mass or,
o 2 of the following: Neurofibroma, schwannoma,
glioma, meningioma, or juvenile posterior
subcapsular cataract
452
NEUROFIBROMATOSIS
Patholog/GIJ Findings Neurofibromatosis ~~~ Z REFERENCES

Neurofibromatosis '!We 1 - SurglcaI resection and stereotactic radiotherapy
- Neurofibromas are composed of are the mainstay of treatment for vestibular 1. Harris GJ, Plotkin SR, Maccollin M, et al.
well-i:lifferentiatl!d tumoo that mntain sd1wan nomas. Three-dimensional volumetrics for tracking
spindltHhaped cells, Schwann cells, fibroblasts. -Single fraction radiosurgery for spinal cord vestibular sthwannoma graw1h in
and mast cells. sd1wan nomas may be used In addition to surgery neurofibromatosis type II. Neurosurgery
NeunrfibrornatDiis Type l or as primal'/ ther.~py. 2008;62(6):1314-1319.
-Tumors of NF2 may consist of Schwann cells, glial - Tomolherapy is able to treat a range of neoplasms 2. Nicolin G, Parkin P, Mabbott D, et al. Natural
cells, or meningeal cells. using a single helical beam with 360 degrees of hinDI'f and outmme of optic pathway gliomas in
rotational radiation. children. Pedlatt Blood Cancer 2009;s3m:
DIFFERENTlAL DIAGNOSIS 1231-1237
Naunrfibromatasis 'fWHI1
- Bralnstem gliomas ONGOING CARE
- Cauda equina and conus medullaris syndromes
PATlENT EDUCATION
ADDITIONAL READING
-Law~~ean~ma
-Meningioma Patients should be made aware of symptoms of Lee HH, Uan SL. Huang CJ, et al. Tomotherapy for
-NF2 worsening vision, dnnltus, hearing loss, or sensol'f neurofibromatosis Type 2: Case report and review of
- Spinal cord hemorrhage/infarction changes that might suggest tumor growth. lill!rature. Br J Rarlio/2010;83(9811):e74-i!78.
- Spinal epid uraI abscess PROGNOSIS Mukherjee J, Kamnasaran D, Balasubramaniam A,
- Leglus syndrome (SPRED1gene mutation) Neurofibromatosis ~e 1 et aI. Human schwannomas express activated
- McCune-Albright syndrome - NF1 has a better prognosis due to a lower platelet-derived growth factor receptors and c-kit
NaunrfibrornatDiis '~We 2 inddence of CNS tumors than NF2. and are inhibited by Gleevac (lmatinib Mesylate).
- Bralnstem gliomas -Clinical manifes1ations often increase over time Cancer ReseardJ 2009;69(12):5099--51 07_
-Epend~oma with a development in a malignancy or Plotkin SR, Singh MA. O'Donnell CC, et al.
- Meningioma neurological detelioration oftl!n ensuing. Audiologic and radiographic response of
-NF1 - Due to the malignant tr.msfomnation of diseased NF2-related vestibular sdlwannoma to erlotlnlb
tissues or development of neurofibrosarcoma, therapy. Nat C/in Pracr Onco/ 2008;5(8):487-491 .
patients have a higher mortality/morbidity than Plotkin SR, Stemmer-Rachamimov AO, Barker F6 II,
TREATMENT the general population. A reduction of life et al. Hearing improvement after bevadzumab in
MEDICATION expectancy by up to 15 years may result. patients with neuraflbromatosls type 2. NEJM
Carbopl atin and vincrinine for optic nerve gliomas - 3-1 S% additional risk of maIignant disease 2009;361(4):358-367.
during Iifetime.
Under dinical study are tl1erapeU1it uses of erlotinib,
bevadzumab, and imatinib mesylate for NeuroflbrornBtosls ~~ l
unreseclllble, progressive vestibular sdlwannomas - NF2 Is associated with significant morbidlty and . CODES
decreased lifespan.
Vrta min Dsupplementation
- As the tumors themselves are relatively indolent, ICD9
- May be of benefit In patients with deficiency or prompt dlagnosls and treatment may Improve life
oneopenia 216.1 Benign neoplasm of eyelid, indudingcanthus
expectancy to more than 15 years following 237.9 Neoplasm of uncertain behavior of other and
ADDITIONAL TREATMENT diagnosis. unspecified parts of nervous system
General Measutes COMPLICAnONS 237.70 Neurofibromatosis, unspecified
Cutaneous examination for documentation of new Neunrfibi'CIITIIItosii T~e 1
neurofibromas or progression of preexisting lesions - Visual loss secondary to optic nerve gliomas
Blood pressure monltorlng - Seizures. spinal cord tumors, scoliosis CLINICAL PEARLS
lssws for Referral Neurofibromatosis T~e l
- Visual loss from optic nerve meningiomas, Neurofibromatosis 1 and 2 are neurocutaneous
Neurology- monitor changes in neurological status
cataracts, or combined hamartomas of the retina genetic disorders diagnosed by spedfic dinical
Ophthalmology-annual eye examinations for
and RPE altet'la.
detl!ction of optic nerve lesions, resection of orbital
plexifomn neurofibroma, slit-lamp examination, and - Hearing loss, tinnitus, seizures Remember the association between NF and optic
nerve glioma, schwannoma, pheod1 romocytoma,
dilated fundus examInation i'regMncy Considerations and other tumors.
Neurosurgel'f - resection of spinal cord or brain Increase In size of existing neurofibromas and the
tumor appearance of new neurofibromas occur commonly
Orthopedic- progressive scoliosis. pseudoarthrosis in women with NF1 during pregnancy.
Plastic surgel'f - resection of neurofibromas Neuroflbromatosls du ~ ng prenatal pe~od may be
Geneticist - family planning options and prenataI diagnosed by:
diagnosis - Linkage analysis can track the NF genes in a
SURGERY/OntER PROCEDURES family with multlple affected members to
NaunrfibrornatDiis 'JWe 1 determine whid1 chromosome the fetus received.
-Radiotherapy may be utilized in children over - Gene sequencing to identify spedfic gene
5 years of age as an adjunct or as an altet'native mutation in affected parent This would permit
to surgel'f for optic nerve gliomas; however, is prenatal diagnosis by amniocentesis or d1orlonlc
generally avoided due to an increased risk of viii us sampling.
secondary malignancy.
- Surgical resection is reserved for large tumors
I
causing mass effect or hydrocephalus and optic
pathway gliomas confined to the orbit or optic
nerve (2)[B).
4S3
NEUROPROTECDON IN GlAUCOMA
L. Jay Katz
~ BASICS
Mitochondrial dysfunction
- Induced by glaucoma-related stimuli such as . TREATMENT
tumor necrosis factor and hypoxia
DESCRIPTION Oxidative stress MEDICATION
Neuroprotection is the use of therapeutic agents to - load of reactive oxygen species and lipid peroxides To be deemed a neuroprotective agent should have
prevent, retard, and in some instances, reverse outweigh the antioxidant capacity of cells 4 criteria: (1) Possessing receptors on the optic
retinal ganglion cells (RGCs) death in glaucomatous Inflammatory and autoimmune mechanisms nerve or retina, (2) Adequate penetration into the
patients. -Complement system: Several components are vitreous and retina at pharmacologic levels, (3)
PATHOPHYSIOLOGY upregulated. Triggering intracellular signals tllat enhance
lOP dependent RGCs loss - Heat shock proteins neuronal resistance to apoptosis (4) Demonstration
- Under physiological conditions act as molecular of efficacy in clinical trials.
Elevated lOP induces optic neuropathy by:
- Mechanical theory. posterior bowing of lamina chaperones and/or have anti-apoptotic activities. No neuroprotectant drug has ever been approved for
cribrosa. and damaging axon bundles passing -Glaucomatous patients have antibodies against an optic nerve disorder. Despite successful preclinical
through its pores HSP. cell culture and animal model experiments, most of
- TNF, as a mediator of RGC death is upregulated. the phase 2 and virtually all of the phase 3 clinical
-Vascular theory, low perfusion pressure, defined
-Nitric oxide: It is a gaseous second messenger and trials of more than 100 neuroprotective drug
as tile difference between systemic blood pressure
appears to have physiologic role in optic nerve candidates have failed to demonstrate efficacy and
and lOP
function. Excessive production of nitric oxide in safety. Following are some of neuroprotectants that
lOP is no longer regarded as tile only causative are categorized into 2 groups. Promoters of cell
glaucoma leads to RGCs loss.
factor in glaucomatous optic neuropathy because survival and inhibitors of cell death.
some patients with elevated lOP never develop
glaucoma, in normal tension, glaucoma lOP is
witllin normal limit, and some patients continue to
~ DIAGNOSIS Inhibitors of cell death
- Memantine,. a derivative of amantadine, which
was used as an anti-influenza compound. As a
progress with controlled low lOP. DIAGNOSTIC TESTS & INTERPRETATION
NMDA receptor antagonist, is currently the only
Non-lOP dependent RGCs loss Imaging available clinical glutamate modifier (the first
Excitotoxicity Establishing neuroprotective effect of drugs is phase 3 trial did not confirm a neuroprotective
- RGCs die by apoptosis (programmed cell death) difficult because glaucoma is a slow, progressive effect).
because of the presence of excessive amounts of disease and the current method of measuring - Nitric oxidesynthase inhibitors: Had a
glutamate, an excitatory neurotransmitter. progression, a computerized visual field assessment, neuroprotective effect in animal studies.
- Glutamates binds onto postsynaptic receptors, is highly variable. - Infrared light. has metabolism-enhancing,
NMDA (N-metllyl-d-aspartate) channels, and Optic nerve and nerve fiber layer analyzers (Optical antioxidant. and anti-apoptotic properties. A
keeps them open for a long period of time, Coherent Tomography, Scanning laser Polarimetry, phase 0 clinical trial is currently announced to be
thereby allowing influx of Ca2+ and Na+ ions and Ophthalmoscopy) may lead to more meaningful in preparation.
and initiating apoptosis. assessment.
Detection of apoptosing retinal cells (DARC), an in
vivo method, may become a precise tool to assess
the effect of neuroprotective agents.
454
NEURDPRDTECTlONIN GLAUCOMA
- Vrtamin E, scavl!nger of peroxyl radicals: - Neurotraphins, Nerve growth factor (NGF) and
Glaucoma patients reO!iving vitamin Ehave brain-derived neurotrophic factor (BDNF), have . CODES
displayed lmproved visual fields In some studies. been tested extensively In animal studies, bath
- cald~rt~channel blockers: In addition to reduce RGCs deatl1. They activate toxic pathways ICD9
anti-vasDSpastic effect, that is an important as well as neuroprotective ones. 365.9 Unspedfled glaucoma
mechanism in optic nerve damage in some - Geran,tgera,lacetone,. in animal studies, 365.12 Low tension open-angle glaucoma
glaucoma patients (i.e., normal tension upregulated HSP-72 expression in RGCs and
glaucoma), Its topical form may reduce lOP. protected them from glaucomatous damage.
Promoters crf neuronal survival - Cop-1 (gla11ramer ace1ate; copolymer-1; CLINICAL PEARLS
- Brimonidine(a-2 agonist): Its mechanism of copax1 J: FDA approved drug for multiple
action is similar to an NMDA channel blocket sclerosis. In animal studies, Cop-1 reduced optic No evidence that neuroprotective agents are
MK-801. It also causes upregulation of BDNF nerve damage caused by mechanical injury or effective in preventing retinal ganglion O!ll death,
(brain~erived neurotrophic factor) in the RGCs. intravitreal glutamate injection. and thus preserving vision in patients with glaucoma
Neuroprotective effect in experimental studies, but - CoanZJITIB Q10, plays a audal role in energy has been demonstrated. Long-term randomized
In clln leal t~als failed to translate Into similar production by the mitochondrial electron transport dinical tria Is with long-term follow-up are needed to
efficacy in humans. chain. Topical CoQl 0 has been effective in determine if tl1ey may be benefidaI in this regard.
- Betaxoloi(.B1-blocker): Alters experimental glaucoma. Mernantine is the only neuroprotective agent
excitotoxic/h~ic pathway to exert its assessed in randomized dinicaltrials (phase 3)
neuroprotective effect. No definite clinical proof without showing a neuroprotective effect compared
for having neuroprotective effect ADDITIONAL READING to placebo-treated patients.
- EmactGinkgo bilolla, an extract from leaves of Bessero AC, Cia ria! PG. Neuroprotection for optic
Ginkgo biloba, has been effective in models of nerve disorders. Cu" Opn Neuro/20 10; 23:1 G-1 5.
experimental glaucoma.
Sena DF, Ramchand K. Lindsley K. Neuroprotectlon
for treatmem oi glaucoma In adults. CodJrane
Diltaba5e S;yst Rev 201 0;2:CD006539.
Cheung W, Guo L. Cordeiro MF. Neuroprotection in
glaucoma: Drug-based approaches. Optam V'IS Sd
20Da;8S:.W6-416
I
455
NEURORETINITIS
David B. Auerbach
Optic nerve edema
Lab
Macular edema with star formation MRI brain and orbits with and without gadolinium
DESCRIPTION Bartonella hense/ae titer
ETIOLOGY
Neuroretinitis is a unilateral, or more rarely, bilateral Infectious or immune mediated CBC
inflammation of the optic nerve and retina with ESR
May be viral in up to 50% of patients
macular exudate formation and associated visual loss. ANA
Originally termed "Leber's idiopathic stellate COMMONLY ASSOCIATED CONDITIONS
ACE
Neuroretinitis, it is now known to have infectious Bartonella henselae infection
etiologies. Although the most common association in RPR
~ DIAGNOSIS
the US is with cat scratch disease, various other causes lymetiter
need to be completely investigated as multiple HIV
infectious and inflammatory etiologies exist (1 )[A]. HISTORY Toxoplasmosis
Blurred vision. Visual acuity can range from 20120 to Toxocariasis
EPIDEMIOLOGY
light perception. Hepatitis B& Cantibodies
Incidence
6 per 100,000 secondary to cat scratch disease Usually painless Brucellosis
Cat exposure is seen in 90% of patients who are Flu-like symptoms Epstein Barr titers
serology positive for Bartonella henselae. Regional lymphadenopathy TB skin test
Ocular erythema leptospirosis
Prevalence
Exact prevalence remains unknown Decreased visual field Imaging
Affects all ages PHYSICAL EXAM Initial approach
No sex predilection Optic disc edema (if bilateral, may be papilledema Visual field with central or cecocentral defect
Right and left eyes equally affected and neuroimaging and LP may be needed to rule out Fluorescein angiogram shows leakage of disc
compressive lesion and/or elevated intracranial vessels and late disc staining
RISK FACTORS pressure). MRl brain and orbits to rule out a compressive lesion
May follow a recent upper respiratory viral illness in Follow-up It special considerations
Macular star formation (usually starts to appear
up to 50% of cases
2-4 weeks after visual symptoms) Macular exudates usually resolve within a few months
Inquire about any recent exposure to cats but may be present for up to a year.
Regional lymphadenopathy
Important to take a sexually transmitted disease Afferent pupillary defect
history
Visual field defect (most common is cecocentral.
GENERAL PREVENTION however, arcuate and altitudinal defects can be
As disease is idiopathic or secondary to infectious seen)
etiology, no general prevention is known. Acquired dyschromatopsia
Small chorioretinal lesions
456
NEURORETINITIS
DIFFERENTlAL DIAGNOSIS ADDI110NAL READING

Cat scratch disease ONGOING CARE
L,yme disease Reynolds MG, Holman RC, Curns AT, et al.
Lupus FOLLOW-UP RECOMMENDATIONS Epidemiology of cat-scratch disease hospitalizations
Patient should be seen every 2 weeks for the first among children in the United States. Pediatr Infect
Sarcoidosis
2 months to assess any change in visual function Dis J 2005;2-4(8):70D-704.
Syphilis (visual acuity, visual field, mlor vision, and any change Rost Monahan S. Neuroretinitis: Ad inical syndrome
Toxoplasmosis
Toxocarlasls
in optic nerve and/or retinal edema) at cat-scratch disease. Gin Eye VIs Care 2000:
DIET 12(3--4):155-159.
Hypertensiye retinopathy
Regular diet
Tuberculosis
Pseudotumor Cerebri PATIENT EDUCAnON . CODES
Leub!mia If patient is Bartonella positive, education regarding
HIV cat handling should be suggested. ICD9
PROGNOSIS o 078.3 Cat-scratth disease
Self-1 imited in immunocompet:ent individuals 363.05 Focal retinitis and retin odlaroiditis,
. TREATMENT Good prognosis Juxtapaplllary
MEDICATION COMPUCAnONS
FitstLine Permanent deaease In visual acuity and visual field
Continues to be controversial. Usually a benign Optic atrophy
CLINICAL PEARLS
self-limited mndition. Medical therapies may o Metamorphopsia No association with multiple sderosis
shorten the recovery lime. o Dyschromatopsia o If suspected cat-scratch disease, treat empirically as
Alllmmunommpromlsed Individuals should be liters may take about H weeks to seromnvert
treated (A)[2].
Treat accordingly if any serologic tests are posilie. REFERENCES
Second Un 1. Williams N, Miller NR. Neuroretinitis. In: Pepose JS,
Doxycycline (3)[A] Holland GN, Wilhelmus KR, editors. Ocular
/rrfectlon and Immunity. St Louis: Mosby Year Book,
Rlfampln 1996:601-608.
Azithromydn 2. Cunningham ET, Ko!!hler JE. Ocular bartonellosis.
Ciprofloxacin Am J O{ilthal2000;130(3):340-349.
Trimethoprim-sulfamethoxazole 3. RayS, Gragoudas E. Neuroretinitis. lnt O{ilthalmol
ADDITlONAL TREATMENT cnn 2001:41(1):83--102.
Issues for Rmm~l
Should be evaluated by an ophthalmologist
Consider neuroophthalmologist and/or retinal
specialist
Admission Critwia
Treated as an outpatient
I
457
NON-ARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY (NAION]
Robert J. Granadier
lschem ia secondary to vascular insufficiency related to
small vessel perfusion at the optic nerve head.
Crowded optic disc in fellow eye with small cup to
disc ratio, (disc at ris ~
DESCRIPTION (Indirect evidence, no causative factor in a pathologic ALERT

Sudden, pain less. unilateral visual loss, associated specimen identified to date). Must distinguish from arteritic formof ischemic
with swelling of the optic disc secondary to vascular optic neuropathy secondary to giant cell arteritis,
insufficiency. ETIOLOGY because if left untreated, there is a 70% incidence
Anatomic theory: Condition noted to be associated
EPIDEMIOLOGY of the second eye being involved within
with small, crowded optic disc with small cup to disc
10-14 days. resulting in bilateral visual loss.
Incidence ration in fellow eye (so called disc at risk).
2-10 individuals per 100,000 over 50 years old COMMONLY ASSOCIATED CONDITIONS DIAGNOSTIC TESTS & INTERPRETATION
Prevalence Diabetes Diagnostic Procedures/Other
1, 500-6,000 new cases per year in the US. Hypertension Visual fields: Static or kinetic
RISK FACTORS Migraine Most frequent visual field defect is an altitudinal loss
of the inferior or superior field
Small vessel disease (1 liB]
Hypertension ~ DIAGNOSIS Pathological Findings
Ischemic infarction of the retro-laminar optic nerve.
Diabetes HISTORY
- Hypercholesterolemia Sudden, painless, unilateral vision loss DIFFERENTIAL DIAGNOSIS
-Migraine Arteritic anterior ischemic optic neuropathy
Often noted upon awakening
- Sleep apnea secondary to GCA, see Alert.
- Hypoperfusion PHYSICAL EXAM -Optic neuritis with optic disc swelling
- Amiodarone Decreased visual acuity - Papillophlebitis
- Erectile dysfunction medication (unproven) Reduced color vision - Amiodarone optic neuropathy
Genetics Sluggish pupil with afferent pupillary defect
None recognized. Visual field deficit (altitudinal)
Optic disc edema, segmental with peri-papillary
GENERAL PREVENTION intra-retinal hemorrhage
Recommended: Patients who have suffered NAION in
one eye should control risk factors and be cautioned in
regard to potential nocturnal or anesthesia related
hypotension/hypo-perfusion.
458
NON-ARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY (NAION)
ADDI110NAL READING
Arnold AC. In Miller NR, Newman NJ, Biousse V,
MEDICATION FOLLOW-UP RECOMMENDATIONS et al. Clinical Neuro-Ophthalmology, Ischemic Optic
None prOYI!n. 1 week, 1 month, 3 months. Neuropathy. Vol. 1Philadelphia PA. Uppincott,
Disc edema resolves over 6-10 weeks. Williams & Wilkins, ed 6, 2005, 349-384.
General Measures PlJtient NIOI'IitDring
Blood pressure Uncommon: 24-hour blood pressure monitoring, In
Individual cases when hypotension Is of concern. . CODES
Blood sugar
ISsues for Referral PATIENT EDUCATION ICD9
Educate patients with respect ID general health 377.00 Papilledema, unspecified
Refer to Internist for general medical evaluation with considerations. and potential risk faclllrs related to
attention ID potential WISOJiopathic risk factors (l)(B]. 377.30 Op11t neu ~tis. unspedfled
individual cases (i.e., erectile dysfunction medication,
obstructive sleep apnea). 377.41 lschemlc optic neuropathy
Additional Thetaples
ProphylacticASA studied: Unproven (2)[C] PROGNOSIS
COMPLEMENTARY & ALTERNAnYE Stablevisuallosslikely in BD-85% CLINICAL PEARLS
ntERAPIES Spontaneous recovery of 3 lines of visual acuity Anterior ischemic optic neuropathy should be
Anti-Coagulation Studied: Unproven (2)(A( approximately 15-20% (3)[A] as high as over 40%. accomp;~nied by swelling of the visible portion af
Steroids: Studied: Unproven {2)(B] (4)[8] the intraocular op1it nerve or 1he optic disc. Absence
Hyperbaric Oxygen: Studied: Unprown (2)[B] Fellow eye risk 15% over 5 years in patients over at assodated disc swelling should cause one to seek:
50 years. (3)[A] an alternate diagnosis.
SURGERY/OTHER PROCEDURES Risk. moderately increased in younger p;~tients. AIR!rent pupillary defect in the eye af concern may
Optic nerve sheath decompression: potentially be absent in cases in which the fellow eye has
harmfuI (3)(A] previously sustained optic nerve damage.
REFERENCES Foster-Kennedy Syndrome: Skull based tumct'
1. Arnold AC. Pathogenesis af nonarterttic anterior obstructing the foramen of Monroe must be
Ischemic op11c neuropathy. J Neuroophfhillmol suspected in patients presenting with optic disc
2003; 23(2): 157-163. swelling in one eye and optic atrophy in the fellow
2. Atldns EJ, Bruce BB, Newman NJ, e1 al. Treatment eye. Once a tumor has been ruled out, the more
common diagnosis of pseudo Foster-Kennedy
of nonarterttic anterior ischemic op1ic neuropathy.
Surv Ophfha/mol 2010; 55{1): 47~3. syr1drome secondary to remote NAION in the fellow
eye and arute NAION In the affected eye may be
3. Optic Nerve decompression surgery for nonarterltlc considered.
ante~or lschem lc optic neuropathy (NAION) Is not
effective and may be harmful. The Ischemic Optic
NeuropathyDecompression Trial Research Group.
.lAMA 1995; 273(8): 625-632.
4. Hayreh SS.Ischemit optic neuropathy. Prog Retin
E~ Res 2009; 28(1 ): ~62.
I
459
NON-GRANULOMATOUS ANTERIOR UVEmS
Nicole R. Fram
Eliza Hoskins
~ BASICS
Review of systems (ROS): Anterior chamber reaction: Grading cell/flare: SUN
-Constitutional: Fever, night sweats, chills (1 x1 mm2 slit beam)(4)
(Infectious-endogenous endophthalmitis, -Grade 0 ( <1 cells)/complete absence
DESCRIPTION tubercu~s), weight loss (malignancy) -Grade 0.5+ (1 - 5 cells)lnla
Non-granulomatous anterior uveitis (NGAU) is a - Skln/muc.ocutaneous: Erythema nodosum (lBO, -Grade 1+ (6-15 cells)/Faint
broad classification for various inflammatory BehQ!t's, sarcoid) erythema chronicum migrans -Grade 2+ (16-25 cells)/Moderate Oris & lens
conditions localized to the iris (iritis), dliary body (Lyme), polyarteritis nodosa (PAN), aphthous/oral dear)
(cyclitis), or both (iridocyclitis) tflat typically present ulcers (8eh9!t's, herpetic), scaling lesions -Grade 3+ (26-50 cells)/Marked (iris & lens hazy)
witfl pain, redness. and photophobia. (psoriasis. reactive arthritis), vitiligo, (Vogt -Grade 4+ (>50 cells)/lntense (fibrin, plastic
- Etiologies can be infectious or immunemediated Koyanagi Harada (VKH)) aqueous
-Systemic involvement or isolated to the eye -Musculoskeletal: Sacroiliitis (ankylosing Lens/anterior vitreous: Lenticular precipitates,
- NGAU is characterized by small punctate or spondylitis, reactive arthritis, IBD); posterior subcapsular cataracts (chronic
stellate keratic precipitates (KP) versus Monoarticular/pauciarticular arthritis (JIA), inflammation and topicaVoral steroids), haptic
granulomatous anterior uveitis with large greasy fasciitisltendonitis (reactive arthritis) induced TID's (UGH), retained lens fragment. cyclitk
mutton fat KP with iris nodules or choroidal -Respiratory: Asthma, wheezing, shortness of membrane
granulomas. breath, cough (sarcoid, TB, cocddioldomyc.osis), Dilated fundus examination: Vltreitis. snowballs,
EPIDEMIOLOGY sinus, and pulmonary disease (Wegener's snowbanklng (MS), cystoid macular edema (CME),
granulomatosis) vasculitis (Beh~t's), Toxoplasmosis scars, retinal
lnddence - Cardiovascular: Pericarditis (reactive arthritis,
8-17 cases per 100.000 population (1,2) necrosis/whitening (herpetic, acute retinal necrosis
Lyme), thrombophlebitis (8eh~t's), AV block (ARN)), choroidal infiltrates (sarcoid, Birdshot, VKH,
HLA-827 more common in Caucasian males (Lyme) Dalen-Fuchs' nodules), intraocular foreign body
8eh~et's disease is more common in Asian and -Gastrointestinal: Diarrhea (180, reactive arthritis)
Middle- Eastern males - Genitourinary: Urethritis/circinate balanitis DIAGNOSTIC TESTS & INTERPRETATION
Juvenile idiopathic arthritis (JIA) more common in (reactive arthritis, syphilis), epididymitis (reactive Lab
females. arthritis, Behtet's), genital sones/ulcers (syphilis. Initial lab tests
reactive arthritis, HSV. Be~et), urinary Workup ind"~cated if bilateral, severe,
RISK FACTORS
incontinence (Multiple sclerosis (MS)), elevated recurrent/nonresponsive to treatment or guided by
Trauma
creatinine. abnormal urinalysis (Tubulointerstitial History/ROS:
Genetic predisposition (HLA-827, HLA-851)
nephritis and uveitis syndrome (TINU)) RPR, FTA-ABS, CXR, ACE, HLAB27, PPD (or
Smoking (3) - Hematological: anemia/elevated ESR (TINU) quantiferon if vaccinated), Lyme Ab
Genet/a -Neurologic: Meningitis (Beh~t's, Lyme, sarcoid, -Target labs according to ROS and anatomic
HLA-827 (ankylosing spondylitis (AS)), reactive VICH), cranial nerve palsies (sarcoid, Iyme, location of Inflammation (anterior, intermediate,
arthritis (formerly Reiter's syndrome), Inflammatory lymphoma, MS) posterior, panuveitis)
bowel disease (lBO), psoriatic arthropathy -Consider ANA, rheumatoid factor if JIA is
PHYSICAL EXAM
HLA-851 (Beh\et's disease) External: Skin, joints, oral cavity, lymph nodes, suspected: Girls: ANA+. Rf- and pauciarticular;
neurologic, genitourinary Boys: HLA-B27+. ANA-. RF-
GENERAL PREVENTION
- Consider ANCAs, ESR, CRP if associated scleritis
No prevention of idiopathic NGAU. Pupils: lrregular/seduded pupil (posterior
and/or peripheral ulcerative keratitis
synechiae), miotic and/or accommodate but don't
ETIOLOGY Wegener'slpolyarteritis nodosa (PAN), rash (PAN),
react to light (syphilis-Argyl! Robertson pupil)
Idiopathic (50%) pulmonary/sinus disease (Wegener's)
Intraocular pressure: - Consider urinalysis for fh microglobuiln level,
30% AS patients have NGAU
- Acute Increased lOP: Herpetic (trabeculitis), Fuchs'
renal biopsy if suspect TINU
COMMONLY ASSOCIATED CONDITIONS heterochromic iridocyclitis, Glaucomatocyclitic
See Review of Systems (ROS). crisis Follow-Up & Special Considerations
Gonioscopy: Peripheral anterior synechiae (PAS), KP, Glaucoma
-Angle closure glaucoma (PAS)
~ DIAGNOSIS abnormal angle vessels- Amsler sign (Fuchs')
Eyelids/lashes: Vesicles (HSV), vitiligo (VKH), poliosis
- Pupillary Block ~ucoma (Secluded pupil)
- Elevated lOP: Steroid induced glaucoma
HISTORY (white eyelashes) (VKH)
Posterior subcapsular cataract
Targeted history onset. duration, location, quality of ConjunctivaJSdera: Circumferential ciliary flush,
granulomas (sarcoid, TB), papillo-foilicular Cystoid macular edema (CME)
symptoms, and associated conditions. Clinical course
(acute, chronic, or recurrent) laterality and previous conjunctivitis (reactive arthritis or Reiter's Syndrome) Imaging
treatments/trauma. conjunctival dendrites (herpetic), episcleritis/scleritis CXR (Sarcoid, TB)
(lBO, RA, SLE, Wegener's) - Consider CT-chest, pulmonary function tests
Standardization of uveitis nomenclature (SUN) (4)
- Acute: Sudden onset with limited duration. Cornea: Decreased corneal sensation (herpetic). X-ray-sacroiliac joints (HLA-827, ankylosing
- Recurrent: Repeat episodes separated by periods diffuse-stellate KP (Fuchs'. herpetic). band spondylitis)
of inactivity without treatment > 3 montfls in keratopathy (JIA, chronic uveitis), stromal edema Bscan if there is no view to posterior pole
duration (herpetic), peripheral ulcerative keratitis Fluorescein angiogram (CME, vasculitis,
-Chronic: Persistent uveitis with relapse (Rheumatoid arthritis (RA), lBO, systemic lupus retinaVchoroidal infiltrates)
<3 months after discontinuing treatment erythematosus (SLE), Wegener's, PAN) OCT for CME monitoring
Past medical, social, and family history Iris/anterior chamber/angle: Posterior synechiae,
pupillary membranes, iris nodules (sarcoid-
- Infectious disease exposure Anterior chamber/vitreous tap: PCR: herpetic or
- Autoimmune/Rheumatologic disease Koeppe-pupillary margin, Busacca-throughout iris).
toxoplasmosis-coiTelate with serology, Cytology:
- STDs/IVDU transilluminatory defects (TID's)/atrophic iris
(herpetic. UGH), heterochromia (Fuchs'), hypopyon lymphoma or leukemia
- Medications: Rifabutin, Cidofovir, Prostaglandins Conjunctival biopsy (caseating vs. non-caseating
-Pets: Cats-Toxoplasmosis, puppies-Toxocariasis (HLA-B27, Beh~'s, Retinoblastoma (Rb),
infectious), hyphema (Herpetic, Fuchs', juvenile granulomas)
- Family history: HLA-827
xanthogranuloma (JXG), Rb, neovascularization of
the Iris/angle, leukemia)
460
ION-GRANULOMATOUS AmRIOR UVEITIS
hthologkal Findings ALER1' REFERENCES

Small/medium KP: Neutrophlls and lymphocytes Counsel patients about 1) Cushingoid changes with
Large (mutton fat) KP: Macrophages 0011 prednisone >5-10 mgld. 2) Dangers of abrupt 1. Darrell RW. Wagener HP, Kurland LT. Epidemiology
granulomatous dlstontinuation after ad renal glands have been of uveitis. incidence and prevalence in a small
- Note: Granulomatous disease can present with urban community. Ardl Ophthalmology
suppressed. 3) Blood pl'l!ssure, blood glucose, and
small/medium KP. 1964;68:502-514.1AJ
cholesterol monltlng MfY 3 montl"d. 4) Bone
2. London NJ, Rathinam SR. Cunningham ET Jr.lhe
DIFFEitEN11AL DIAGNOSIS mineral density testing if on oral smoids
epidemiology of uveitis in developing c.ountries./nt
o HLA-B27 >3 months, then annually. Risk of aseptic necrosis OphrtuMmol Clln 2010;50{2):1-17. [A]
- Anlcytoslng spondylitis of bone 10-15% If on 60 mg In first month and 3. Lin P, Margolis TP, Ad1arya NR. Cigarette smoking
- Psoriatic arthropathy >20 mg for first 6 months. 5) Children < 1s years as a risk factor for uveitis. O{ilthalmdogy
-Inflammatory bOWl!l disease (lBO) may have delayed puberllll growth (S). 2010;117(3):585-590. (B)
- Postintectious, or rwclive arthritis (formtl'ly 0 Steroid-sparing innulosuppressiveS if clw'onic
4. Standardization of Uvelitis Nornendature (SUN)
Reiter's S}T\drome) and cannot taper systemic prednisone <10 mg Working Group. Standardiza1ion of uveitis
o Juvenile idiopathic {rheumatoid) arthritis (JIA) without flare. Rheumatology ronsuIt nomendature for reporting dinical data. Results of
Herpetic disease - Antimetabolites: Azathioprine (lmuran), the first International workshop. Am 1 Ophtha/mol
- Herpes Simplex virus Methotrwte, Mycophenolate mofetil (CeiiCept) 2005;140:509-516. [AI
- Varialla Zoster virus - T crll inhibitor: Cyclosporile 5. Jab$ PA. Rosenbaum JT, Foster CS, et al. Guidelines
- Cytomegalovirus -Biologics (TNF-alpha inhibitcn) particularly for the use of Immunosuppresslve drugs In patients
Glautomil'locydlt!c c~sls (l'osner-Sdllossman useful In Ankyloslng spondyiJUs, Beh~s. JIA, or with ocular inflammation disorders:
syndrome) recalcitrant disease Recommendations of an expert panel. Am J
o Fuchs' heterochromic iridocyclitis Oplrthalmo/ 2000;130(4):492-513. (A)
Patients on antimetabolites should I monitored
Behs disNse foe bone llaR'OW suppression, Jim function. and
Tubulointerstitial nephritis and uveitis syndrome
(TINU)
pulmonary function q 3-6 weeks. Patients on Q See Also {Topic, Alprllllm, Electronic
c:ydosporine should be monitored for nephrotoxidty ~ Mldll Eltmtnt)
Traumatic iritis and hypertension q 3-6 weeks (5). Patients on
Lens-assodated uveitis biologics should be monitored for malignancy, o Granulomatous uveitis
- Phacolytic autD-antibodie5 sepsi$. and inlection q H weeks. Intermediate uveitis
o IOL-assodated uveitis: Uveitis, glautoma, hyphema Posterior uveitis
(UGH) ADDITIONAL TREATMENT
o Drug induced uveitis
IUUti for Rfierral
Lymphoma Rheumatology tonsult (HLA-827, JIA) . CODES
Idiopathic uveitis Gastrointestinal tonsult {IBD)
NOTE: Syphilis, sarcoidosis,. tuberculosis (TB), VIQI, Pulmonary ronsuh (Sarcoid) ICD9
and Lyme disease are in the differential diagnosis, but ketlna (onsult (CME, vasculitis. retinal/choroidal 364.0D Acute and subacute iridocyclitis, unspecified
are classified as granulomatous. imiltrates)
Glaucoma consult (unmntrolled glauroma) CLINICAL PEARLS
. TREATMENT SURGERY/OTHER PROCEDURES
Uveitis with high lOP: ~: HSV, VZV.
Fluodnolone acetonide intmitreallmplant {Retisert)
MEDICATION for recalcitrant disease despite maximal oral and Glaucomatocyclitic a isis, Fud1s' Hetenx:hromia.
Chronic Sarcoid, Toxoplasmosis. TB (PAS related),
FlrstUne toplca1therapy. (Watch 10P, contraindicated ln
Schwartz's Disease (Chronic RD), Steroid response
Topical steroids herpetic disease)
o Uveitis with diffuse KP: Fuchs' Heterochromic
- PrednLsolone acetate I % q 1-2 hour du~ ng first o Filtering procedure for uncontrolled glaumma
week and slowly taper ewer 4-6 ,_ks, lrldocydltls, HSV. W. toxllpiasmosls
- Diftuprednate 0.05% (Duma~ q.i.d = Uveitis with hypopyon: HLA-B27, Beh~s. JIA.
Predn Lsolone acetate I %q2h ONGOING CARE endogenous endophthalmitis
Topical cycloplegia {dliary spasm, prevention of
posterior synechiae) o Weekly exams untiI AC reaction is controlled and
-Homatropine 5% b.l.d-t.l.d topical steroids are tapered to q.l.d or less.
o Sub-tenons steroid injection for chronic uveitis
o If patient is on steroid or steroid-sparing
andfor CME. Consider short-acting prep such as
immunosuppressivl!s q H Mek,labonrtory
dexamethasone phosphate if steroid response is a
evaluation. See alerts.
c.onc.em.
o OraI antiviraI if herpetic disease suspected htknt Monltorlng
Intraocular pressure
SecondUne Cataract: Spedal considerations for cataract
Oral prednisone (1 mg/~d) (max ~0 mg) do
extraction indudes short course of preopeiGtivl! oral
not continue at high dose>1 month. If there is no prednisone and intraoperative methylprednisolone.
response after 2-4 Wl!eks or fails a slow tapet
steroid sparing immunosuppressive should be PROGNOSIS
c.onsidered. Depends on etiology and comorbid conditions.
o Calcium I 500 mg and V'ltamin D800 IU {bone
COMPLICATIONS
density prophylaxis) Glaucoma: Chronic angle dosure, steroid Induced
I
H1 Blockers {GI prophylaxis) glaucoma
o Acaleration of cataract development
ChronlcCME
461
NON-PHYSIOLOGIC VISION LOSS
Saunders L. Hupp
Acuity and visual field decrease ~ DIAGNOSIS
Ocular motility
DESCRIPTION - Spasm of near reflex HISTORY
Vision loss in the absence of contributory ocular or - Convergence insufficiency Nature of complaint
neurologic pathology - Horizontal or vertical gaze paralysis Degree of disability
- Multiple labels -Nystagmus Affect
o Functional o Horizontal, vertical, torsional Attitude toward care givers
o Hysterical o Random saccadic bursts Degree of concern toward problem
o Psychosomatic Pupil size and reactivity Determine motivation for symptoms
o Conversion reaction - Dilation and tonicity
o Munchausen's syndrome PHYSICAL EXAM
Eyelid position loss of visual acuity
- May be psychogenic or the result of malingering - Pseudoptosis and blepharospasm
o Malingering symptoms are consciously and - Binocular or monocular
Corneal and facial sensation
voluntarily produced loss of visual field
- Relative anesthesia or hypersensitivity
- Nonspecific constriction most common
EPIDEMIOLOGY - Central scotomas
ETIOLOGY
Prevalence See Risk Factors 2A -All types of hemianopias
1-5% of visual problems seen by ophthalmologist Monocular diplopia
1A. 2A COMMONLY ASSOCIATED CONDITIONS
See Risk Factors - Not explained by refraction, corneal, or lenticular
Decreased visual acuity most common pathology
- Most prevalent in children and young adults Psychiatric syndromes affect approximately
- Images are often equal and separate
- Psychogenic more common in children and young one-third patients 2A, 3A
- Conversion reaction Voluntary nystagmus
adults - Rapid to-and-fro movements only able to be
o Females > Males - Depression
- Hypochondriasis sustained for seconds without rest
- Malingerers most often adult males
- Body dysmorphic disorder -Able to be produced by 5--8% of normal
RISK FACTORS population and may be familial
- Somatization disorder
Conflict - Usually horizontal, but vertical and torsional
Stress reported
Anxiety - Eyelids open or closed
- Rarely monocular
Depression
- May occur during normal visual tracking
Secondary gain
- Resemble ocular flutter or opsoclonus but no
Psychiatric syndrome neurologic pathology
Convergence loss
- Often seen with loss of accommodation
Spasm of the near reflex
- Convergence, accommodation, and miosis
- limitation of abduction
462
NON-PHYSIOLOGIC VISION LOSS
DIAGNOSnC TESTS & INTERPRETAnON 5. Digre KB. Nak.amato BK. Warner JEA. L.angebg
Lab . TREATMENT WJ, Baggaley SK. Katz BJ: A comparison of
Acuity idiopathic i ntr.~cran ial hypertension with and
- Acuity starting with smallest line ADDmONAL TllEATMENT without papilledema. Headache 2009;49:185-1 93.
-Near aOJity Genetal Measures 6. Suppiej A. Gaspa G, Cappellari A, l!t al. The mil! of
-OICN Drum Reassura nee and compassion visual evoked potentials in the differential
- Mirror test Review exam In a positive manner with patient and diagnosis of functiona I visual loss and optic neuritis
Eyes follow tilting mirror family In children. J Child Neuro/2011;26(1):~4.
- Prism dissociation tl!st - Do not confront suspected malingerer
VisuaI field
- Goldmann or Tangent Screen
Issues for Referral ADDI110NAL READING
Suspicion of suicide or physicaI harm to patil!nt or
o Crossing lsopters Slavin ML The prtsm dissociation test In detl!ctlng
others
o Target Visual Field 4A unilatl!ral functional vision loss. J Clin
-Automated Additional Therapia Neurooptha/mri 1990;10(2):127-13 0.
- Observation Psychotherapy
Kathol RG, Cox TA, Corbett JJ, et aI. Functional
o Ambulatory ability not ronsistent with test visuaI loss: L A true psych iatric disorder7 Ps}filo/
results
$ ONGOING CARE Med 1983;13(2):307-314.
Imaging Beatty S. Non-<Jrganic visual loss. Postgrad Med
Initial approach FOLLOW-UP RECOMMENDATIONS 1999;75:201-207.
Indicated when acuity not rorrectable or visual field Reevaluate symptoms if persistent or increasing
loss is reproducible
MRI
PROGNOSIS
Resolution occurs in over 50%
a S11 Also (Tapic, Al1arithm, Electronic
~ Madia El1111n0
Follow-up &: special tonsiderations
Image areas responsible for symptoms This is a must for anyone interested in this topic: J
REFERENCES L.awtan Smith Lecture http://rontent.lib.utah.edu/
Functional overlay
-Present in almost 10% SA, 6A 1. Chen CS, Lee AW, Karaglannls A. et al. Practical cdm41item _viewer.php7CISOROOT=IEHSLJ.awton_
-Symptoms cut of proportion to organic pathology clinical approaches to functional visuaI loss. J Gin Smlth&CISOPTR=153&CISOBOX=1&REC=1
Diagnostic Procedures/Other Neurosd 2005;14(1): 1-7_
Multi focal ERG 1A 2. Lim SU, Siatlcowslci RM, Farris BK. Functional visual
loss in adults and children. Opthalmology . CODES
Visual Evoked Potentiai6A
2005;112(10):1821-1828.
DIFFERENnAL DIAGNOSIS 3. Taich A. Crowe S, Kosmorsky GS, et al. Prevalence ICD9
Always tonsider early or subtle organic disease of psychosocial disturbances in children with 369.9 Unspedfll!d visual loss
- Macular dystrophies nonorganic visual loss. JAAPOS 2004;8(5): 378.83 Convergence insufficiency or palsy
- Retinopathy 457-461. 379.50 Nystagmus. unspecified
- Acute zonal occult outer retinopathy
- Lebel''s hered ltary optic neuropatlly 4. Hsu JL. Hartey CM, Foroozam R. Target visual field:
A techn lque to rapidly demonstrate nonorganlc
- Optic neuritis
visual field constriction. Arch Oplhalmo/ CLINICAL PEARLS
- Paraneoplastic optic nl!\lrnpathy
201 0;128(9): 122D-1222. Watch the patient entering the exam room and
- Occipital epilepsy
-Atypical migraine aura navigating around obstacles (stool, phoropter, etc.)
- Infarctlon, Inflammallan, or mass lesion
I
463
NORMAL TENSION GLAUCOMA
Tak Yee Tania Tai
George L. Spaeth
~ BASICS
Intraocular pressure: Lab
- Studies have shown a significant influence of lOP Initial lab tests
DESCRIPTION on the progression of visual field or neuroretinal lab tests as indicated for clinical suspicion of other or
Normal tension glaucoma (NTG) is used to describe rim damage. associated conditions.
glaucomatous damage with statistically normal -In the Collaborative Normal Tension Glaucoma
intraocular pressure (lOP).
Study, lOP reduction of at least 30% is
If an oral carbonic anhydrase inhibitor is prescribed for
significantly associated with protection of visual
EPIDEMIOLOGY treatment, blood work including C8C and creatinine
field and nerve status compared to untreated levels should be obtained.
Incidence patients(~ 20% oftreated eyes and ~40% of
There is wide discrepancy in the literature regarding untreated eyes had glaucomatous progression Imaging
prevalence and incidence of NTG due to inconsistent within 3 years). Initial approach
definitions ofthe disease, different methods of Optic disc photographs should be obtained to
evaluation of the optic nerve and visual field, and Ocular vascular abnormalities:
evaluate and follow patients through their course of
different populations studied. - Drance described 2 forms of NTG - a treatment.
NTG is likely an under-reported condition. nonprogressive form perhaps associated with
Other optic nerve head imaging devices are also
The incidence of chronic open angle glaucoma transient vascular compromise, and a more
currently being used for optic nerve head
(COAG) was estimated to be: 0.24% per year in common progressive form possibly due to chronic
assessment:
Dalby, Sweden, 0.1 % per year in Melbourne, vascular insufficiency of the optic nerve head
- Scanning laser polarimetry
Australia, and 0.55% per year in Barbados. (1)]8].
- Heidelberg retinal tomography
NTG accounts for 40-75% of patients with newly COMMONLY ASSOCIATED CONDITIONS - Optical coherence topography
diagnosed COAG (1)[8]. Migraine headaches Follow-up & special considerations
Raynaud's phenomenon Optic disc imaging should be obtained regularly (e.g.,
Prevalence
Sleep apnea (1)[8] annually, or more often if a change in optic disc
In the Baltimore Eye Survey, prevalence of COAG
was: African-Americans 1.23% (40-49 years old) appearance is suspected) to document and assess the
~ DIAGNOSIS
and 11.26% (80 years or older); Caucasians 0.92% optic nerve head for change.
and 2.16%, respectively. Diagnostic Procedures/Other
- 16.7% of glaucomatous eyes never had a HISTORY Visual fields should be obtained at baseline and at
recorded lOP exceeding 21 mm Hg. regular intervals (e.g., annually, or more often if a
Presence, onset. and nature of visual disturbance
change is suspected).
In 7 regions throughout Japan, the prevalence of Systemic vascular risk factors such as diabetes and
Diurnal lOP testing may be useful if large lOP
NTG in patients older than 40 years is ~2.04%. hypertension
(2)[8] fluctuations or periods of lOP spike are suspected.
History of ocular trauma or surgeries
Consider neuroimaging for:
RISK FACTORS Family history of glaucoma or other optic
- loss of central visual acuity or central visual field
Migraine neuropathies
-Acute onset or rapidly progressive visual loss
Neurological disturbances such as headaches, - Markedly asymmetric or strictly unilateral optic
Female gender (3)[A] dizziness, and weakness of extremities neuropathy
Genetia PHYSICAL EXAM - Hemianopic visual field loss
The following genes have been reported as Checlc for an afferent pupillary defect. - Neuroretinal rim pallor (5)[8]
causative for NTG; however, the associations Slit-lamp examination of the anterior segment to Pathological Findings
between these genes and NTG are either weak, or check for signs of secondary glaucoma, such as iris
Atrophy of the retinal ganglion cell layer can be noted
often not replicated in other populations (4)[8]: transillumination defects, pseudoexfoliation in advanced glaucoma.
- Apolipoprotein E material, anterior chamber cell or flare, and signs of
- Optic atrophy 1 prior surgery or trauma DIFFERENTIAL DIAGNOSIS
- Optineurin (associated with a significant fraction Gonioscopy Optic nerve anomalies including coloboma, pits,
of autosomal dominant, NTG cases) Direct and indirect stereoscopic slit-lamp oblique insertion
Other unknown genetic factors likely play a role in biomicroscopy to evaluate the optic nerve head, Autosomal dominant optic atrophy
the development of NTG. paying particular attention to: Glaucoma associated with elevated (higher than
-Narrowing of the neuroretinal rim width (relatively normal) intraocular pressure -for example, past
GENERAL PREVENTION narrow rim inferotemporally or superotemporally history of trauma or surgery that may have led to
There is no known prevention of NTG prior to can indicate glaucomatous damage) elevated lOP, wide diurnal fluctuation in lOP, and
manifestations of the disease. -Asymmetry in disc cupping past history of steroid use
PATHOPHYSIOLOGY - Optic disc hemorrhage
Retinal ganglion cell damage and death leads to - Optic nerve color
decrease in visual function in patients with glaucoma. - Beta zone parapapillary atrophy
- loss of retinal nerve fiber layer
-Acquired pit of the optic nerve head
464
NORMAL TBSIDN GLAUCOMA
Hemodynamic crisis SURGERY/OTHER PROCEDURES PROGNOSIS

Methyl alcohol poisoning Laser procedures, for example, argon laser Prognosis of glaucoma depends on the patient's age
Optic neuritis trabeculoplasty, selective laser trabeculoplasty: and rate of progression.
Arteritic isdlemic optic neuropathy - laser procedures have been shown to be ~ective 1he prognosis is good If the patient's rate of
Nonarteritic isthem it optic neuropathy in lowering intraocular pressure. progression can be slowed to a rate such that they
- They should be used with caution In patients with maintain good vision for their lifetime.
Compressive lesions of optic neNe and tract highly pigmented trabecular meshwork..
Traumatic optic neuropathy - laser procedures can be considered first line Normal tension glluc:oma patients with unilatrral
rJ TREATMENT
MEDICATION
therapy In some patients.
Filtering procedures:
- Trabecu lectomy
- Tube shunt implant (e.g., Ahmed, Baerveldt
field loss are at high risk of developing field damage
in the fellow eye (6)(A).
COMPUCAnONS
Uncontrolled glaucoma can lead to loss of vision.
FirstUne Molteno)
Prostaglandin agonists (e.g., latanoprost, Cydodestructive procedures are not the first REFERENCES
bima!Dprost, tlli\IOprost) operation of dloice because of their destructive
Topical carbonic anhydrase inhibitors (e.g., nature and potenUal risk of damage to adJacent 1. Shields MB. Cha~ 9- Clinical Epidemiology in
do12olamlde, brlnzolamlde) ocular structures: Glaucoma, and Chapter 11 - Chronic Open-Angle
Beta-blockers (e.g. timolol, II!VIIbunolol) - - Endoc:ydophotocoagu lation Glaucoma and Normal-Tension Glaucoma. 5th ed,
- laser transsderal cytlophotocoaguIat!on In: Allingham RR. Dam)l KF, Freedman S, Moral SE,
Selective alpha 2 receptor agonists
5hilfranov G(eds). Shields' Textbook of Glaucoma.
Miotics (e.g., pilocarpine) 2005.
SKOndUne $ ONGOING CARE 2. Dul ~. N0tmll Tension Glaucoma, In: UtwalcAB
Systemic carbonic anhydrase inhibi!Drs (e.g., FOLLOW-UP RECOMMENDAnONS (ed). Glaucoma Handbook, 2001.
methazolamlde, acetazolamide). Patients are remm Ined after starting a new 3. Dmnce S, Anderson DR. Schul~r M. Riskfac!Drs for
ADDITIONAL 'REA111UNT medication or after laser or surgical procedures to progression af visual field abnonnaBtles In
G.,.,..l MHSUteS evaluate the efficacy. normal-tension glaucoma. Am J Ophthilmo/
If the patient is at high risk. for visual loss at their 2001;131:699-708.
The goal Is to achieve and maintain an Intraocular
pressure level in which there will presumably be no Intraocular pressure level, It may be reasonable to 4. Fan BJ, Wang DY, Fan OS, et al. SNPs and
further op1ic ni!M! damage. rechedt the patient within days ID ensure that Interaction analyses of myodlln, optlneurln, and
This Intraocular pressure level Is dynamic and should adequate intraocular pressure lowering is ath ieved apolipoprotein Ein primary open angle glaucoma
be reevaluated at eadl visit -this level is with therapy. patients. Mol Vis 2005;11 :625-631.
determined by histmy. examination. and rislc. factors Once the patient has adlieved an intraocular 5. Collignon NJ. Abnormal rupplng of the optic disc:
for progression. pressure level that is at low lisle for causing Clinical screening before pelforming a
If the intraocular pressure cannot be maintained low additional glaucomatous damage, they can be neuroimaging examination. BuHSoc Beige
enough to prevent op1ic nerve damage with reevaluated In~ month Intervals. Ophthiimd 2006;300:21-23.
noninvasive therapy, glaucoma filtering surgery may Pat/Mt Monitoring 6. Fontana L. Armas R. Garway-Heath OF, et al.
be Indicated. See Follow-Up Recommendations and Diagnostic Clinical fac!Drs influ.endng the visual prognosis of
It is important to keep in mind the eltpeflse, Tests and Interpretations sections. the fellow eyes af normal tension glaucoma
inconvenience, and side effects of therapy. patients. Br1 Ophthilmo/1999;83: 1002-1 005.
PATIENT EDUCATION
lssws for Re(w,al It is important to counsel patients on the importance
Neuro-ophthal mologist - if there is suspicion that of adherence to medial therapy and with ADDITIONAL READING
the cause af the patient's optic neuropathy or visual ophthalmological follow up for treatment of
fleld defect Is neurological. glaucoma. Collaborative NonmaiTension Glaucoma Study
low-vision specialist - for patients who are Group. Compa~son of glaucomatous progression
functionally inhibited by their quality of vision. between untreated patients with nonnal-tension
glaucoma and patients with thelllpeutically reduced
Addition/ Ther11p;.s intraocular pressures. Am 1 Ophthiimo/
Neuroprotective agents are currently being studied for 1998;126:487-497.
treatment of glaucoma patients.
Q S11 Also {Topic, Alprillm, Electronic
~ Medii Element)
Primary open angle glaucoma
CODES
ICD9
365.12 low tension open-angle glaucoma
I
465
NORRIE DISEASE
Brian J. Forbes
Monica R. Khitri
~ BASICS
GENERAL PREVENTION Bilateral. often symmetric. dystrophic changes in the
Carrier testing of female relatives can identify retina including retinal detachments or folds.
individuals at risk of having affected offspring. Vitreous hemorrhage
DESCRIPTION Prenatal testing possible if mutation already Iris atrophy, posterior synechiae
Rare neurodevelopmental disorder of males causing identified in an affected family member. Corneal opacities
congenital or early infancy blindness from retinal
PATHOPHYSIOLOGY Cataracts
dysplasia, classically characterized by retrolental
masses (pseudogliomas) (1)[C] Developmental abnormality of retinal vascularization Can get shallowing of anterior clhamber and
during embryogenesis causing retinal hypoxia and increased intraocular pressure in later stages (1)[C],
Associated with developmental delay, hearing loss,
dysplasia (4)[C] (3)[CJ
and behavioral abnormalities
Also known as progressive oculo-acoustiro-cerebral ETIOLOGY DIAGNOSTIC TESTS It INTERPRETATION
degeneration Norrin, the protein encoded by the NDP gene, has a Lab
characteristic cysteine knot motif and is involved in Initial lab tests
EPIDEMIOLOGY Frizzled-dependent signaling cascade important for
First reported in families from Scandinavia but since Molecular genetic testing of NDP gene mutations can
vascular development and maintenance of the inner be useful in corroborating diagnosis but cannot
reported in almost all ethnic groups
ear and retina. Mutations in the NDP gene cause definitively exclude disease.
Affects males predominantly. Very rare female aberrant retinal vascularization (4)[C].
carriers {2)[C[ Follow-up i special considerations
COMMONLY ASSOCIATED CONDITIONS Genetics consult
lnddence Associated with mental retardation, behavioral Examine mother for evidence of subtle retinal
Extremely rare disease that has been reported only in
disturbances, and sensorineural deafness in 30% pigmentary clhanges, retinal folds, peripheral
isolated case reports. cases. avascular retina.
RISK FACTORS Imaging
Family history of Norrie disease
Genetics
~ DIAGNOSIS Initial approach
B-scan can be used to characterize the retrolental
X-linlced recessive disease caused by mutations in HISTORY mass, detect retinal detachments if poor view.
the NDP gene at Xp11.4 Family history of Norrie disease, congen itaI male Follow-up i special considerations
More than 70 point mutations, chromosomal blindness. Regular ophthalmologic monitoring for glaucoma
rearrangements, frame-shift, and splice site PHYSICAL EXAM development, cataracts, retinal detachments, and
mutations described (3)[C] Classic finding: Yellow"iJrey, elevated retrolental progression of milder disease.
- Female carriers may harbor some retinal findings mass (pseudoglioma) visible through a clear lens. Diagnostic Procedures/Other
that can range from mild pigmentary changes to These masses are typically composed of dysplastic Audiologic evaluation
retinal detachment, abnormal retinal vasculature, retina with unbranched retinal vessels. The
and macular drag. When carrier expression is Developmental assessment in early childhood if
peripheral retina may be attached, is usually patient not meeting normal developmental
present. it is usually presumed to be a result of avascular, and can have pigmentary changes.
skewed X-chromosome inactivation or milestones
May have mild changes at birth followed by Behavioral evaluation as indicated
chromosomal aberration {2)[C]. progressive clhanges though infancy and childhood
Genetic counseling
466
NORRIE DISEASE
Patholog/GIJ Findings Additional '111el'ilples REFERENCES

Proliferation of preretinal fibrovascular tissue, retinal If nonfunctional eye, phthisis bulbi, consider a scleral
detad1ment and gliosis, disorganized layers of shell to encourage orbital and perlocu lar tissue 1. Drenser BA. Feeleo A. Dailey W, et al. A
dysplastic retina, defK!ive and dilated retinal Vl!ssels growth. characteristic phenotypic retinal appea llilnce in
(4)[C] Norrie disease. Retina 2007;27(2):243-246.
COMPLEMENTARY a ALTERNATIVE 2. lin P, Shankar SP, Duncan J, et al. RetinaI vascular
DIFFERENTlAL DIAGNOSIS THERAPIES abnormalities and dragged maculae in a carrier
o Pl!rsistent fetal vasrulature syndrome (PFVS) None proven or indicated. with a new NDP mutation (c.268deiC) that caused
o Retinopathy of prematurity (RO P)
SURGERY/OTHER PROCEDURES severe Norrie disease In the proband. 1AAPOS
o Coats dlsease 201 D;14:93-96.
o Repair of retinal detachment. release of retinal
o Familial exudative vitreoretinopathy (FEVR) traction, ablation of avascular retina, and 3. Wu WC, Drenser 1C.. Trese M, et al. Retinal
o Rl!tinoblastoma vaSOJiarized demarcation zone (1)[C]. phenotype-genotype correlation of pediatric
o lncontl nentla pigment! Glaucoma surgery may be needed if increased patients expressing mutations in the Norrie disease
o Isolated or syndrom ic retinal dysplasia intraocular pressure. gene. Anh O{iltha/mo/ 2007;125(2):225-230.
o Otrult child abuse (Shaken baby syndrome) o Consider enucleation or evisceration if needed to 4. Luhmann UF, Un J, Acar N, et al. Role of the Norrie
Osteopetrosls-pseudoglloma syndrome control pain. disease pseudoglloma gene In sprouting
rl
MEDICATION
TREATMENT ONGOING CARE
angiogenesis during development of retinal
vasculature. Invest OphthJimo/ Vis Sd
2005;46(9):3372-3382.
o None available to treat the primary disease process

Regular ophthalmologic examinations as needed to ADDITIONAL READING
o lOP-lowering agents can be used to treat orular
monitor for retinal detachments, cataract, glaucoma.
hypertension should It OCOJr. If ante~or chamber o lowvision http://WwN.genedinics.org/proflleslnorriel
shallow and angle dosed, the modalities may detalls.html.
,.,tifmt llllonitoring
indude peripheral iridectomy, lens extraction, Behavioral, dMiopmental, psych iatric. and regular
trabeculectomy, glaucoma drainage tube, or audiologic evaluations.
cyclodestructive procedures. i J coDES
PATIENT EDUCATION
ADDITIONAL TREATMENT o Genetic counseling ICD9
General MHSUteS o Low vision evaIuation and aids 743.8 Other spedfled anomalies of eye, congenital
o Most males with dassic phenotypic presentation Support and education tmp:/lwww. norrles.orgf o 743.56 Other retinal changes, congenital
have complete retinal detachments at birth with
little visual potential PROGNOSIS
o Poor visual prognosis, especially if presentation with
o Patients diagnosed without a complete retinal
complete retinal detachments at diagnosis. Often CLINICAL PEARLS
detachment may benefrt lrom surgery and/or laser
therapy (1)[C],(3)[C]. Treatllll!nt should include Hand Motion vision or less. Visual prognosis is very limited, and low vision
o Marry eyes progress to phthisis bulbi. inteMntions are important in management
ablation of the avascular retina and the vascularized
line of demarcation. COMPLICATIONS Examine relatives, males and females, as variable
Retinal detachments expression can manifest as subtle retinal pathology
Issues for Referral o
in older age groups.
Consider audiology and/or ENT referral for patients o Glaucoma
o Consider genetic evaluation and counseling.
with hearing loss. Some patients may benefit from Cataracts
hearing aids or cochlear implantation. Consider audlologlc and psych lat~cJbehavlora I
o Low vision evaluation and support
consultation.
o Retinal surgery and/or laser therapy for patients
lacking complete retinal detachments.
Cognitive and behavioral therapies as needed
I
467
NYSTAGMUS, ACQUIRED
Sarkis M. Nazarian
~ BASICS
Ocular motor neurons receive input from both burst -Other etiologies include M.S., medication toxicity
and tonic cells in the PPRF neural integrator to (lithium, antiepUeptk rneds. opioids, amiodarone),
achieve correct burst-tonic firing pattern. defiCiency states (812, thiamine, magnesium),
DESCRIPTION The most common type of pulse-step disorders toluene abuse, cranlocervical junction pathology
Acquired nystagmus is a repetitive, rhythmic. include mismatch (glissade), where the step is (stroke, trauma, or bleed), hydrocephalus.
involuntary oscillation of the eyes, and can be smaller than the pulse, and gaze-evoked nystagmus paraneoplastic cerebellar degeneration due to
constant. cyclical, or intermittent. (due to a variety of toxins, most commonly ethanol), anti-Ta antibody, stiff person syndrome.
All nystagmus occurs of a result of ltle eyes drifting where the step Is poorly sustained. Both these - Cortical projections to vestibulocerebellum are
from the desired position of gaze. conditions lead to nystagmus in ea:entric gaze, with GABAergic, so benzodlazeplnes can be used (e.g.
It can be monocular, binocular, or asymmetric slow phases directed toward the primary position. Clonazepam), as well as baclofen, a GABA-fJ
(dissociated). agonist.
ETIOLOGY - 3,4-diaminopyrldine (3,4-DAP; amifampridine), a
Nystagmus can be directionally symmetrical with a Nystagmus can be classified according to the
sinusoidal (pendular) waveform, or it can have a potassium channel blocker, has been shown to
following scheme: suppress downbeat nystagmus. This agent is
slow drift and a rapid corrective jerk." component. - Peripheral vastlbular nystagmus: Benign
The slow drift can have a linear, exponentially currently only available in Europe. A related agent
paroxysmal positional vertigo (BPPV) 4-aminopyridine (fampridine, dalfampridine,
increasing, or exponentially decreasing (decaying) -Central vestibular nystagmus: Downbeat,
waveform. Ampyra) is now commercially available in the US.
upbeat, and torsional - Downbeat nystagmus due to Episodic Ataxia type
EPIDEMIOLOGY - Nystagmus due to vestibular instability: 2, due to a P/Q type calcium channel (CACNL1A4)
Prevalence Periodic alternating nystagmus (PAN) mutation, responds to acetazolamide.
The prevalence of nystagmus is estimated at - Nystagmus caused by disorders of visual
Upbeat nystagmus: Pathology usually lies in
240/100,000 based on a community survey in fixation: See-saw nystagmus. Disorders of the me<f1al medullary tegmentum (nucleus
Leicestershire, UK. anterior visual pathways often cause nystagmus intercalatus).
due to both loss of visual motion information that
RISK FACTORS -It is caused by M.s. brain stem strokes, cerebellar
can be used to compensate for drifts of eyes off
As acquired nystagmus can occur as a result of a degenerations, Wemkke's, Behcet's,
target, and loss of visual input essential to
variety of conditions, no specific risk. factors can be paraneoplastic, Leber's congenital amaurosis,
"calibrate" normal eye movennents.
cited. toxins (organophosphates, anticonvulsants,
- Nystagmus caused by disorders of gaze
cyclosporine A), smoking (in the dark only).
Genet/a holding: Acquired pendular nystagmus,
gaze-evoked nystagmus. oculopalatal tremor or Torsional nystagmus: Associated with the ocular
A variety of Inherited conditions can have tilt reaction and skew deviation. This is a rare
nystagmus as part of the spectrum of central "myoclonus.
condition, and no data on treatment exists.
nervous system manifestations. COMMONLY ASSOCIATED CONDITIONS PAN (Periodic alternating nystagmus):
GENERAL PREVENTION Nystagmus Is often accompanied with other - Shifts direction every 80-1 20 seconds
Prevention measures for acquired nystagmus neurological findings such as vertigo and ataxia. - Etiology is similar to that of downbeat nystagmus.
depend on the specific etiology of the nystagmus. - Relieved by baclofen, a GABA-fJ agonist. This has
PATHOPHYSIOLOGY ~ DIAGNOSIS been thought to be due to baclofen's ability to
compensate for loss of cerebellar Inhibition, but
Optimal visual acuity requires image motion on an NMDA effect may also be Involved.
retina to be <5 degrees/second. Three main HISTORY
mechanisms hold gaze steady: Acquired nystagmus is accompanied with Disorders of the antltrlor visual pathways
oscillopsia, or apparent movement of stationary often cause nystagmus (e.g., see-saw). This is
-Vestibula-ocular reflex
- Visual fiXation objects. This can become severe enough to degrade thought to be due to both loss of visual motion
- Ea:entric gaze-holding mechanisms. so-c.alled visual acuity. infonmation that can be used to compensate for
Neural integrator." drifts of eyes off target, and loss of visual input
PHYSICAL EXAM essential to "calibrate" normal eye movements.
Visual futation has 2 components: Benign paroxysmal positional vertigo
- Corrective eye movements in response to retinal SH-saw Nystagmus: Oyscon]ugate vertical
(BPPV):
image drift, and movements; upward moving eye intorts, downward
- Most commonly due to posterior canal disease eye extorts
- Suppression of unwanted movements that move -Mixed horizontal and torsional nystagmus
eyes away from target - Usually due to parasellar lesions, possibly due to
-Waveforms have linear slow phases. midbrain compression; also, occasionally with
Eccentric gaze-holding mechanisms: The neural - Unidirectional, obeys Alexander's law (amplitude congenital chiasm abnormalities.
integrator is a diffuse system comprising the greater when eyes turn toward direction of jerk
vestibu locerebellum and cell groups in paramedian component) Acquih!d pendular nystagmus: Hallmark of M.S.
tracts, including the medial vestibular nucleus - Suppressed with fixation, worse under Frenzel Other etiologies include stroke, bleed, tumor,
(MVN) and the adjacent nucleus prepositus glasses Pelizaeus Merzbacher disease, mitochondrial
hypoglossi (NPH) In the medulla for horizontal gaze, - Fatigues easily, resolves in days to week.s disorders, Cockayne syndrome, toluene abuse,
adrenoleukodystrophy.
and the interstitial nucleus of Cajal (INC) in the Downbeat nystagmus: The vestibulocerebellum
midbrain for vertical gaze. - May be diagonal, circular, or elliptical.
inhibits central connections from the anterior canals - Initially thought to be due to visual deprivation, it
A pulse of innervation to the extraocular muscles (which are activated by ned: flexion and move eyes is now thought to be due to gaze-holding deficits.
(EOMs) is needed to overcome viscous drag up), but not from the posterior canals (which are - GABA and glutamate receptors are thought to be
(mediated by burst neurons); a step of innervation to activated by neck extension and move eyes involved.
EOMs is needed to overcome elastic restoring forces down).
(mediated by tonic neurons) and keep the eyes from - Lesions of the vestibulocerebellum (such as Gaze-evoked nystagmus: Present in extrennes of
Arnold-Chiari malformation) cause disinhibition of gaze (except downgaze). It Is due to cerebellar
slipping bade.
the anterior canal projections. causing eyes to drift dysfooction (in the flocculus and its connections)
The saccadic pulse generator for horizontal gaze is - Most commonly due to sedative-hypnotic drugs.
located in the ipsilateral paramedian pontine upward, and compensatory downward nystagmus
- It exhibits decelerating slow phases.
reticular fonmation (PPRF) in dose proximity to the to occur.
abducens nucleus.
468
NYSTAGMUS, ACQUIRED
OculapalatBI tnmar ar "myoclonus: This is Acquind pendular nystllgmus: Gabapentin Lee AGT, Bmil PW. Localizing forms of nystagmus.
another type of acquired pend ular nystagmus, 12D0-2400 mgfd dosed t.l.d or q.l.d, mernantlne Symptoms, diagnosis and treatment. Curr Neuro/
vertical-torsional (with unilateral lesions), or verticaI 20--40 mg/d dosed b. i.d or Li.d, clonazepam Neurosd Rep 2006;6:414-420.
(with bilateral lesions). 0.5-1 mg 1.i. d, trihexyphenidyl 2()-.4() mgld, Leigh RJ, Tomsak RL Drug treatments for eye
- Associated with lesions of the CentraI Tegmental scopolamine (Transderm Scop) 1.5 mg 3-day patch. movement disarders. J Neurol Neurosurg Ps}r:hiatry
Tract. whldl runs from the dentate nucleus to the Oculopalatalln!mor: Gabapentln 2003;74:1-4.
contralateral red nudeus to the contralateral 12D0-2400 mg/d dosed t.i.d or q.i.d, valproate Leigh RJ, leeDS. The Neurology of Eye Movements,
inferior olivary nucleus ("Mollaret's triangle"); the 1D--60 mgllcg daily, and trihexipheni! Fourth Edition; New York: OXford University Press,
latter nucleus appears hypertrophic on lmaglng. 20--40 mg/d. 2006:475-558.
-Frequency is 1-3 HL Md.ean RJ, Gottlob I. The phannacolog kal
SecondUne
- Often accompanied by tremcr of palate of other treatment of nystagmus: A review. Expert Opin
Vestibular nystllgmus: Medications used to treat
branchial muscles. Pharmacolher 2009;10(11}: 1805-1816.
severe vertigo and nausea due to BPPV Include
DIAGNOSTIC TESTS a INTERPRETATION antihistamines. anticholinergics. phenothiazines Rucker JC. An update on ac:qui red nystagmus. Semin
Lab (promethazine, prochlollJerazine), benzodiazepines. Ophtha/mol 2008;23;91-97.
Initial lab tests and ondansetron. They should not be used for mOl'e Rucker JC. Pearls: Nystagmus. Semin Neurol
Routine lab testing is not useful in acquired than 48 hours to prevent delay In healing due to 201 0;30:S1-53.
nystagmus, as history of toxic exposure, physical CNS compensation. Sarvananthan N, Surendran M, Roberts EO, et al.
examination, and Imaging are usually sufficient. DGwmNt or '41beat nystogm: Dalfampridine The prevalence of nystagmus: The L.eicestershire
Urine drug screening and ethanol level are useful in (Ampyra) 2D--30 mgld dosed b.l.d or t.l.d; nystagmus survey./nvm Ophrha/mo/ VIs Sd
diagnosing intoxications. am ifampridine (Zenas. Firdapse) 40--80 mgfd. 200g;SO:S201-5206.
Imaging See-saw nystllgmus: Ethanol 1.2 mglkg. Straube A, Leigh RJ, Bronstein A, et al. EFNS task
lnitialapproad! Acquired pendular nystagmus: Cannabis. force- therapy of nystagmus and osdllopsla. fur J
Magnetic resonance Imaglng of the poste~or fossa ethanol1. 2 mglkg. Neurol 2004; 11 :83--89.
is usually diagnostic. Diffusion-weiglrted imaging, ADDITIONAL TllEATMENT
FLAIR, and post-contrast T1 imaging are most GenfH'al Measures
helpful. PeripheraI nystagmus and vertigo due to semicircular
. CODES
DIFFERENTIAL DIAGNOSIS canal involvement is usually sell-1 imited. It can be
improved by various canal repositioning maneuvers ICD9
Saccadic intrusions: These are armythmic, 379.50 Nystagmus, unspecified
chaotic movements made up of saccadic movements (e.g., Epley and Semont maneuvers).
only, with and without intervening periods of ocular Additional Therapies
rest Base-down prisms can be used fer downbeat CLINICAL PEARLS
- Saccadil; intrusions include square-wave jerks, nystagmus, as It damps with upgaze.
maaosaccadlc osdIlations. opsoclon us, and ocular Retinal image stabiIization, which consists of Jerk nystagmus can be physiologic, occurs In
flutter. high-negative contact lenses coupled with extreme lateral eye positions, is of low ampIitude
Superior oblique myokymia: Intermittent, brief hlgh-posltlve spectade lenses, optlca lly reduces and high frequency, and resolves when eyes are
monocular osdllopsla due to small amplitude acquired pendular nystagmus amplitude. removed from extreme lateral gaze.
contraction of the superior oblique. Botulinum A toxin injections in extraocular muscles Acute onset of gaze-evoked or upbeat nystagmus
-Idiopathic, related to microvascular compression have been reported to be successfulin small case with confusion and ataxia suggests Wernicke's
of the trochlear nerve studies, but the potential for side effects (ptosis. encephalopathy.
Ocular neuromyotonia: Episodic monocular vertkal deviations. warseni ng of nystagmus in Both peripheral and central vestibular nystagmus
deviation caused by overaction of a musde noninjected eye) have prevented the widespread worsen when the patient looks in the direction of
innervated by the orulomotor nerve, usually acceptance of this tect1nlque. the fast phase (Alexander's Law).
adduction, brought on by eccentric gaze. VIsual fixation suppresses vestibular nystagmus, but
- Patients usually have received radiation therapy to COMPLEMENTARY & ALTERNAT1VE worsens infantile nystagmus.
the parasellar region. THERAPIES Jerk nystagmus can be seen with retinal disorders,
None are effective whereas pendular nystagmus usual~ is seen with
SURGERY/OTHER PROCEDURES optit nerve disorders.
. TREATMENT Kestenbaum procedures to move eyes into a position Nystagmus assodated with visuaI loss is usually
MEDICATION that minimizes the nystagmus can be uselul, for more severe in the eye with worse vision.
example, move eyes up for downbeat nystagmus Ophthalmologic examination may reveal a very low
First Line
Vestibular nystagmus: Current practice amplib.Jde nystagmus. and prolonged observation
guidelines discourage routine medical therapy, reveals direction reversal in PAN.
ONGOING CARE
especially with benzod lazeplnes and antihistamines
Downbeat nystagmus: Clonazepam 0.5-1 mg PROGNOSIS
ti.d, badofen 5-10 mg ti.d, trihexypheni! Established nystagmus generally persists, except for
2(}-40 mgld BPP'J, which is a self-limited condition
Downbeat nystagmus wHh episodic ataxia:
Acetazolamide soo-t 000 mgld, dosed b.i.d or li.d.
Upbeat nystagmus: Baclofen 5-10 mg t.i.d.
ADDinONAL READING
Periodic. alternating nystagmus: Baclofen Baugh RE, Orvidas L, et al. Clinical p!llc:lice
5-10 mg ti.d. guideline: benign paroxysmal positional vertigo.
See-saw nystagmus: Badalen 5-10 mg t.i.d, Otolal}flgo/ Head Neck Surg 2008;139(5 Suppl4):
I
clonazepam 0.5-1 mg tl.d, gabapentln S47-S81.
120D--2400 mgfd dosed t.i.d or q.i.d. Brandt T, Dieterich M. Vestibular syndromes in the
roll plane: topographic diagnosis from brainstem to
cortex.. Ann Neurol 1994;36(3):337-347.
Hertle RW. Nystagmus in infancy and childhood.
Semin Ophtha/mo/2008;23:307- 317.
469
NYSTAGMUS, CONGENITAL
Jing Jin
Eye movement recording (3)
Electrophysiology studies for nystagmus associated
DESCRIPTION HISTORY with decreased vision without identifiable ocular
Involuntary oscillation of the eyes that may be either Age of onset. Congenital/infantile nystagmus is pathology or suspect CSNB
motor or sensory in etiology. usually noticed by parents between 8-12 weeks old - 3-lead visual evoked potentials (VEP) help to
and before 6 months of age. establish the diagnosis of albinism
EPIDEMIOLOGY - Photophobia (e.g., achromatopsia, cone
Incidence dystrophy, albinism, macular hypoplasia) DIFFERENTIAL DIAGNOSIS
Idiopathic motor infantile/congenital nystagmus: 1 in - Poor night vision (e.g., Congenital stationary night Congenital/infantile nystagmus
2,850 (1). blindness [CSNB]) Nystagmus due to vision deprivation before age
Prevalence - Better night than day vision (e.g., achromatopsia) 2 years
Approximately 0.5%, including those associated with History of neurologic signs, brain injury, brain tumor - Ocular anterior segment pathologies: Corneal
strabismus and other diseases. Family history opacity, cataract. glaucoma
Medication or illicit drug use - Retinal diseases
RISK FACTORS - Optic nerve diseases/congenital anomalies
Low vision PHYSICAL EXAM Latent nystagmus
-Strabismus (2)[C] Systemic and neurology evaluation for anomalies, - Usually associated with strabismus
- Developmental delay developmental delay, and hypotonia -Affected by monocular occlusion and reverse
- Down, Asperger (2 reported cases), and other Complete ophthalmologic evaluation to loolc for direction when the covered eye is changed
syndromes - Ocular anomalies and media opacities Spasmus nutans
- Neurological anomalies - Strabismus (e.g., from poor vision in sensory - Onset during the first year of life in otherwise
- Family history of nystagmus nystagmus or with infantile esotropia in healthy children
Genetics nystagmus bloclcage syndrome) -Transient high frequency often asymmetric
Isolated nystagmus: Autosomal dominant (loci Evaluation for head positions, null point (may shift nystagmus with head nodding and abnormal head
6p12, 7p11, 13q31-33, 18q22.3-23), autosomal over time, e.g., periodic alternating nystagmus) position
recessive (6p12), and X-linked (locus Xp 11 .3-11.4; Amplitude, frequency, and direction in all gazes - Chiasma!, suprachiasmal, or third ventricle
gene FRMD7 at Xq26-q27; gene GPR143 at -Type of nystagmus: Pendular, jerlc gliomas may mimic spasmus nutans.
Xp22.3) (2)[C[ -Amplitude Gaze-evoked nystagmus
Genetics of underlying syndrome would otherwise -Symmetry Vestibular diseases
apply. - Direction (vertical horizontal, see saw, opsodonus) Nystagmus due to brain, brainstem, and cerebellum
- Changes in character with convergence or diseases
GENERAL PREVENTION monocular viewing
Genetic: counseling -Trauma
- Increase beneath dosed eyelids - vestibular or -Tumor: Glioma, neuroblastoma
PATHOPHYSIOLOGY brainstem pathology - Inflammation
Low vision results in inability to use visual DIAGNOSTIC TESTS & INTERPRETATION -Ischemic
information to maintain stable fixation. - Demyelination: Multiple sclerosis
Neuronal mechanism of motor nystagmus is a field
Lab
Not required unless systemic disorder which - Degeneration
active research. Currently, there is no unified theory. - Malformation
warrants laboratory tests
ETIOLOGY If opsodonus, do urine catecholamines. Toxins and drugs induced oscillations of eyes:
Isolated congenitaUinfantile motor nystagmus may Alcohol, lithium, antiseizure medications
Imaging
or may not have genetic etiology. Idiopathic
Initial approach
Acquired nystagmus Brain MRI in cases of
- Sensory: Vision loss before age 2 years -Vertical and asymmetric nystagmus
- Central nervous system anomalies - Nystagmus with optic nerve hypoplasia
- Degenerative brain disorders, stroke, tumor - Neurologic signs
-Vestibular - Unusual patterns of nystagmus (e.g., see saw,
COMMONLY ASSOCIATED CONDITIONS opsoclonus - if so, also scan neck and thorax and
Low vision due to pre-chiasma! pathology (e.g., possibly abdomen for paraspinal neuroblastoma)
retinal dystrophy, optic nerve hypoplasia, untreated Follow-up It special considerations
cataract) For progressive neurologic disease
Albinism
Central nervous system anomalies or other disorders
Developmental delay
Multiple syndromes (e.g., Cornelia de Lange
syndrome) and chromosomal aberrations (e.g.,
trisomy 21)
470
NYSTAGMUS, CONGENITAL
ADDITIONAL READING
Brodsky MC, Fray KJ. The prevalence of strabismus
MEDICATION FOLLOW-UP RECOMMENDATIONS in congenital nystagmus: The influence of anterior
MedicaI trNtment is not usually induded in o As needed for monitoring vision, head position, and visual pathway disease. JAAPOS 1997;1(1):16-19.
treatment for congenital nystagmus. amblyopia treatment Oftting WS, Armstrong CM, Holleschau AM, et al.
Badofen and 5-hyd roxytryptophan have been t~ed o As needed for associated ocular, central nervous Evidence for genetic heterogeneity in families witll
witlllimited effect. system, or systemic disease congenital motor nystagmus (CN). Ophthalmic
-Low vision Genet 2000;21(4):227-233.
General MeasUI'eS
o Scheduled ophthalmology evaluation for moniiDring z.
Peng Y, Meng Y, Wang et al. A novel GPR143
and treatment of coexisting ocular condition, duplication mutation in a Chinese family with
Correct refractive error. Contact lens may damp the strabismus, and amblyopia Xlinked congenital nystagmus. Mal Vis
nystagmus In some patients. 2009;15:81 o-814.
l'lltient MonifDring
Obtilin ocular alignment by refractive correc:tion, Abadl RV, Bjerre A. Motor and sensory
School performance and development.
prisms, or surgety- may eliminate manifest latent chararuristics of infantile nystagmus. Br J
component. PATIENT EDUCATION OphthalmoJ 2002:86:1152-1160.
Treat amblyopia. o Genetic counseling where indicated
Blekher T, Yamada T, Vee RD, et al. Effects of
Photod1romlc lenses and sun glasses for cone o Low vision inll!rvention
acupuncture on foveation characteristics in
disorders and macular hypoplasia o Patient support network- American Nystagmus congenltaI nystagmus. BrJ Ophtha/mol
Prism Network. Inc. (ANN) http://WWN.nystagmus.org/ 1998;82(2):115-120.
- Correct face turn. Underlying disease spedflc support groups Mezawa M, Ishikawa S, Ukai K. Changes in
- Stimulate fusional convergence: Base out prisms PROGNOSIS waveform of congen itaI nystagmus aSSDdated with
for both eyes. o Visual acuity varies and depends on etiology biofeedback treatment Br1ofOphtha/mal
Issues for Refe~l o Most furms of nystagmus. Including
1990;74(8):472--476.
Genetic counseling fur cases with family history, congenltalllnfa ntlle Isolated motor nystagmus,
albinism, or other genetic causes dampen with age but rarely resolve.
Lowvision Anomalous head positions usually worsen as . CODES
Neurology referral as needed demand increases with age.
ENT referral In cases of vestibular nystagmus ICD9
COMPUCATIONS 379.50 Nystagmus. unspecified
COMPLEMENTARY a ALTERNATIVE Visual blur 379.51 Congenital nystagmus
THERAPIES -Only when acquired later in childhood does
ascillopsia occur 379.56 Other forms of nystagmus
Acupuncture
Biofeedback (4)[C)
SURGERY/OTHER PROCEDURES REFERENCES CLINICAL PEARLS
To correct face turn: Transfer tlle null position into
primary gall! - Kestenbaum-Andersen procedure. 1. Stang HJ. Developmental disabiIities assodall!d Review medical and family history.
To dampen the movement: Large rt!CeSSion of all4 with congenital nystagmus. J Dev Behav Pediatr Time of onset for infantile/congenital nystagmus is
ho~zontal recti 1991;12(5):322-323. usually 2-3 months and before age of 6 months.
Anlflclal divergence surgery ID produce a large 2. Flngert JH, Roos B, Eyestone ME, et al. Novel Search for ocular and optic nerve pathology for
exophoria tllat allows tlle patient to use fusional intragenic FRM 07 deletion in a pedigree with nystagmus due to visuaI deprivation.
convergence to dampen the nystagmus (5)[C[ congenital X-linked nystagmus. OphlhalmicGenet Brain MRIIn cases of venlcal and asyn1met~c
201 0;31 (2):77--80. nystagmus and nystagmus with abnormal optic
3. Hertle RW, Maldanado VK, Maybodi M, et al. nerve
Clinical and ocular motor anattsls of the Infantile Improve vision through treatment of ocular diseases.
nystagmus syndrome In tlle ftrst 6 months of life. Br conrection of refractive error, and amblyopia
J Of/J lila/mol 2002;86(6):670-67 5. treatment
4. Sharma P, Tandon R. Kumar S, et al. Reduction of SUrgical Intervention for abnormal head position
congenital nystagmus amplitude with audittxy
biofeedback. JAAPOS 2000;4(5):287-290.
5. Spielmann A. en nlcaI rationale for man!fest
congenital nystagmus surgery.JAAPOS
2000;4(2}:67-74.
I
471
OCCIPITAL LOBE DISORDERS
Mark L. Moster
Homonymous quadrantanopsia
Rarely, a unilateral a contralateral temporal crescent
defect between 60 and 90 in the VF with the most
DESCRIPTION HISTORY anterior occipital lobe lesions
Disorders affecting the occipital lobe of the brain, Visual blurring on one side of space or if bilateral on
With bilateral lesions:
which is almost entirely devoted to visual function both sides of space. Patients may mistakenly believe
- Bilateral homonymous hemianopic defects
that it is only blurred in the eye on the side of the
EPIDEMIOLOGY - Cortical blindness (or cerebral blindness)
visual defect (if they have not occluded one eye to
Varies, depending on the many different causes of test it). Cortical blindness
occipital involvement -Normal ocular examination
Unilateral lesions are occasionally asymptomatic
- Normal pupillary reaction
RISK FACTORS until noted on routine examination.
- No visual response, no blink. to light or visual
Genetics Difficulty with locating objects in environment threat
Varied, depending on the many different causes of Difficulty with identifying colors (Color Agnosia). - Most often infarction or prolonged hypotension
occipital involvement Visual hallucinations Anton's syndrome
ETIOLOGY - Phosphenes, photopsias - Cortical blindness
- Formed hallucinations - Patient denies blindness
Common causes
- Cerebral infarction Visual illusions-inaccurately seeing objects - Often associated with abnormalities beyond the
-Trauma Difficulties with reading and writing occipital lobe
- Hemorrhage Less commonly Dyschromatopsia or hemiachromatopsia
-Tumor - Diplopia, polyopia, palinopsia Riddoch phenomenon-patient may perceive a
-Infection - Agnosias-~lifficulty in identifying objects despite moving object but not a stationary object.
-Migraine being able to see them If occipital visual loss occurs in early life. optic
Rarer causes PHYSICAL EXAM atrophy and pallor may develop due to transsynaptic
- Demyelination Homonymous hemianopsia degeneration
- Posterior reversible encephalopathy syndrome - Macular sparing may occur
(PRES) - Sometimes sparing the 60-90 region in the
- Mitochondrial encephalopathy, lactic acidosis, and temporal visual field (VF) in the contralateral eye
stroke-like episodes (M ELAS) - Most often congruous
-Visual variant of Alzheimer's disease - Homonymous, congruous central scotomas with
- Heidenhain variant of Creutzfeldt-Jakob disease occipital tip lesions
- Progressive multifocalleukoencephalopathy
472
OCCIPITAL LOBE DISORDERS I
Imaging
If acute, CT scan to exd ude hemormage
Additional Theraplu
P~sms
Mirrors
(f) ONGOING CARE
Otherwise. MRI sean FOLLOW-UP RECOMMENDAOONS
SURGERY/OTHER PROCEDURES varied, depending on etiology
Some patients have oa:ipital patterns of visuaI loss IV or lA thrombolysis for arute infarct
with normal CT and MRI (e.g., trauma, Alzheimer's). Counseling the abiIity to drive
Neurosurgery for mass lesions - Regulations vary by stall.! and country.
These may be dell.!tted with positron emission Radiation for tumors
tomography (PET), single photon emission oomputed
tomography {SPEcn, or lunctionaI MRI {fM Rl) scans. Intra-arterial therapy fDf arte~ovenous
ma!formations (AVMs). ADDI'nONAL READING
Lesions of optic tract and parietal and temporal lobe IN-PATIENT CONSIDERAnONS Zhang X, ~ar S, Lynn MJ, et al. Homonymous
may have similar visual field defects. lnftlel Smblllzetlon hemianopia in stroke. 1 Neuroophtha/mo/
For Infarct-rnake sure that vitals and metabolic 2006;26(3):180-I 83.
- Other neurologic flndlngs (e.g., aphasia, sensory
loss) usua11y provide loca11zlng value In these status are stable. Consider thrombolysis If within
cases. hours of onset. Consider anticoagulation if high risk.
Patierrts with cortical blindness may mistakenly be for recurrence (e.g., cardiac embolic source). . CODES
diagnosed with functional visual loss. For hemormage or IJJmor...;tabilize vital signs and
monitor and treat for dinica11y significant mass ICD9
effect. 438.7 Disturbances of vision
. TREATMENT Admission Criteria
If deficit is arute infarct or hemorrhage CLINICAL PEARLS
Treat underlyl ng etiology. If there is sign ificarrt mass effect from a stl\lctural
ADDITIONAL TREATMENT lesion Isolated hemlanoplc defects without other
General Measures neurologic findings are almost always due to an
Occupational therapy oa:ipitallesion.
- Stralllgies for reading Patients with hemianopsia may mistakenly believe
Saccadic and vtsual fleld training that the visual loss is only in one eye until it is
-These therapies likely help visual function by shown to them by occluding each eye individually.
training the piltierrt to make eye movements
toward the VF defect or shift atlllntion to the side
of the VF deficit.
473
OCUlAR ADNEXAL LYMPHOMA (OAL]
Jurij R. Bilyk
Ann P. Murchison
~ BASICS
RISKFAOORS PHYSICAL EXAM
Autoimmune disease may predispose to the Vision and pupillary examinations are usually
evolution of LH and OAL. normal. Optic neuropathy is uncommon in OALD,
DESCRIPTION Chronic immunosuppression increases the risk of and may signify an aggressive histopathology.
Ocular adnexallymphoproliferative disease (OALD) NHL in general. Painless nodularity in the eyelids, conjunctival
represents an amalgam of monoclonal and Higher rate of NHL in HIV-infected patients. cul-de-sac, anterior orbit. and lacrimal gland is
polyclonallymphocytic proliferations that involve the common. Evert the eyelids to check the tarsal
ocular adnexa (the eyelids, orbit conjunctiva and Genetics conjunctiva and cui-de-sacs carefully.
lacrimal apparatus). ' No definite genetic predisposition to OALD.
A pink flat or elevated subconjunctival lesion (i.e.,
OALD is further divided into 2 sub-categories: GENERAL PREVENTION salmon patch") is a common manifestation of LH
- Lymphoid hyperplasia (LH), a polyclonal, T-cell rich There is no known effective prevention of LH and OAL. and OAL.
proliferation, which may be reactive. A significant Avoidance of chronic immunostimulation (e.g., chronic Exophthalmos or other globe dystopia may be
percentage of patients with LH will eventually infection) and chronic immunosuppression (e.g., HIV present, usually without significant external
develop systemic lymphoma. infection, long term methotrexate therapy for ophthalmoplegia or diplopia.
- Ocular adnexal lymphoma (OAL), a monoclonal, rheumatoid arthritis) may theoretically be protective. Clinically LH and OAL are indistinguishable.
autonomous, self-sustaining lymphocytic
malignancy, which is generally of B-cell origin and PATHOPHYSIOLOGY DIAGNOSTIC TESTS & INTERPRETATION
of the non-Hodgkin type. The pathophysiology of NHL is not clearly
understood.
Lab
- Idiopathic orbital inflammatory syndrome (lOIS) is lnitiall111b tests
not in the spectrum of OALD. The specific subtype of NHL typically mimics the Laboratory testing is usually not helpful. An elevated
clinical behavior of its mature B-cell progenitor. For lactate dehydrogenase may be noted in aggressive or
OAL should never be considered a uniform process,
example, EMZL arising from marginal zone B-cells
but rat~er .a compendium of subtypes of lymphoma, disseminated OAL.
each w1th 1ts own cytogenetics, therapeutic options, will behave indolently, whereas mantle cell
lymphoma (MCL) will mimic the more aggressive Follow-up & special considerations
propens~ty for systemic involvement, and varying S~rologi.c testing is performed after pathologic
prognOSIS. behavior of a mantle zone 8-cell.
d1agnos1s. In general, additional testing includes: CBC
OAL should be classified according to the WHO Chronic immune stimulation and chronic infection
with differential, serum lactate dehydrogenase,
modifications of the REAL system. The majority of promote an in situ evolution of lymphoproliferative
beta-2-microglobulin, protein electrophoresis, renal
~AL present as 5 subtypes, 3 of which are relatively
disease. Examples of this include the formation of
and hepatic function, and HIV serology.
gastric EMZL in patients chronically infected with
Indolent and 2 of which are aggressive and
potentially fatal (Table 1). Helicobader p;fori and the proven association Imaging
between Epstein-Barr virus infection and endemic Initial approach
Burkitt lymphoma. CT or MRI of the orbits is performed in all cases of
Table 1 Subtypes of OAL Chronic immunosuppression allows for NHL suspected OAL, even with presumed clinically
formation, demonstrated by the higher incidence of localized conjunctival involvement. since 50% of
Indolent Aggressive NHL in HIV infection. these patients will have deeper, orbital extension.
Extranodal marginal zone Diffuse large B-cell About 50% of OAL lesions mold to the native
COMMONLY ASSOCIATED CONDITIONS anatomy and 50% are well-circumscribed.
(EMZL)" Most patients with OALD and OAL have no known
Bony erosion and adjacent anatomic spread
Follicular cell (Grade I and II) Mantle cell associated conditions.
(paranasal sinuses) are uncommon and suggest
Small cell lymphoma Follicular cell (Grade lll)t HIV-infection increases the incidence of NHL. aggressive histopathology.
(chronic lymphocytic Ce~in autoimmune disease {Sjogren syndrome,
possibly rheumatoid arttuitis) may increase the risk Follow-up & special considerations
leukemia).
of NHL. Secondary imaging is necessary for staging.
Long-term iatrogenic immunosuppression is In OAL, head and body PET/CT is becoming the
Also known as mucosa-associated lymphoid tissue (MALn imaging modality of choice, both for staging and to
lymphoma. associated with a higher NHL risk.
t Rare in tile ocular adnexa.
monitor response to therapy.
To date, no clear association between OAL and an
infectious stimulus has been proven. For LH, PET/CT is usually not approved by insurance
carriers and CT or MRl of the neck, thorax,
-About 50% of all OAL is extranodal marginal zone abdomen, and pelvis are performed.
lymphoma (EMZL)/mucosa-associated lymphoid
tissue (MALn. ~ DIAGNOSIS Depending on the chemotherapeutic regimen
planned, cardiac function is typically assessed by
- OA~ is not associated with intraocular lymphoma, HISTORY multigated acquisition (MUGA) scanning.
wh1ch should be considered a form of central Most patients with LH and OAL present with slowly
nervous system lymphoma. progressive, nonspecific symptoms. Diagnostic Procedures/Other
For OAL, bone marrow biopsy is usually
EPIDEMIOLOGY The vast majority of OALD presents without pain.
recommended, at the discretion of the oncologist.
lnddence The presence of pain typically signifies an aggressive
histopathology. Lumbar puncture is performed in cases of suspected
65,000 cases of non-Hodgkin lymphoma (N HL) per central nervous system lymphoma, usually seen in
year in the US Proptosis, ptosis, and eyelid or conjunctival mass are conjunction with HIV infection.
OAL occurs in approximately 5% of all NH Lcases common presenting complaints.
and accounts for about 10% of all adult orbital Diplopia/visual disturbances are infrequent. Pathological Findings
tumors. OAL is rare in the pediatric population. Most patients (78%) have no known history of For OALD. tissue should be sent for histopathology,
systemic lymphoma. immunohistochemistry, and flow cytometry.
OALD has no significant gender predilection.
Additional cytogenetic testing may also be
The mean age at presentation for OAL is about necessary. Correct handling of the excised tissue is
67 years, but OALD/OAL may occur in any adult age important.
group. - Histopathology and immunohistochemistry are
performed on formalin-fixed tissue.
- Flow cytometry can only be performed on fresh
(non-fixed) tissue. The minimum volume needed
for flow cytometry approximates the size of a pea.
474
OCUlAR ADNEXAL LYMPHOMA (OAL) I
DIFFERENTlAL DIAGNOSIS IN-PATIENT CONSIDERATIONS ADDI110NAL READING
Inflammatory conditions (e.g., sarcoidosis, Wegener Admission Crltelfa
granulomatosis) As needed for specific chemotherapeutic regimens and Ferry JA. Fung CY, Zukerberg L, et al. Lymphoma of
Metastatic lesions for patient comorbidities the ocular adnexa: A study of 353 cases. Am JSurg
Primary conjunctival, eyelid, lacrimal gland Patlral2007;31:170-184.
(especially pleomorphic adenoma), and orbital Jaffe ES. The 2008 WHO classification of
lesions ONGOING CARE lymphomas: Implications for dinical practice and
Slnoorbltal aspergillosis translational research. HematologyAm Srx Hemlftol
FOLLOW-UP RECOMMENDATIONS Educ Program 2009:523-531.
As noted, all patients with LH and OAL must be
Jakubiec FA. Ocular adnexal lymphoid tumors:
followed for the long term (years to decades) by the
. TREATMENT ophthalmologist for local disease monitoring and by
progress in need of clarification. Am 1 Ophtlralma/
2008;145:941--950.
MEDICATION an oncologist for systemic monltorlng.
Jenkins C, Rose GE, Bunce C, et al. Clinical features
Treatment is ~ighly dependent on si!VI!ral issues: Patient Mt~~~ltorlng associated wtth su N1val of patients with lymphoma
- IJi is usually treated with a course of oral o Local monitoring of the ocular adnexa is initially of the OQIIar adnexa. Eye (Lond) 2003; 17:809--820.
corticosteroids, and refractory cases wltlllow dose performed every few weeks until response to Sullivan TJ, Whitehead K. Williamson R, etaI.
radiotherapy. therapy is noted. Thereafter, patients may be Lymphoproliferative disease of the ocular adnexa: a
- For OAL, treatment is guided by the subtype of monitored every few months durlng the flrst year, clinical and pathologic study with statistical analysis
lymphoma. and subsequently every 6-12 months. of 69 patients. Oplr thai Plast Reconstr Surg
- The location of the lesion. In general the best Long-term systemic monitoring is indicated for all 2005;21: 177-188.
prognosis Is for unilateral conjunctival lesions. patients. Typically the oncologist performs serial Sullivan TJ, Valenzuela AA. Imaging features of
Negattve prognostic features for OAL Inelude dinical exams and PET/CT or other imaging ocular adnexallymphoproliferative disease. Eye
location in the eyelids or lacrimaI gland, bilateraI modalities. (Lond) 2006;20: 118!H 195.
involvement, bone erosion, and presence of optic
neuropathy. PATIENT EDUCATION
Depends on subtype of OALD and staging.
Localized, indolent disease may be treated with
rad lotherapy (total dose of 30 Gy). o The patient must understand that Mn with . CODES
localized disease or systemic disease with complete
Systemic disease or localized, agg resslve OAL Is
typically treated with systemic chemotherapy. The therapeutic response, long-term systemic monitoring ICD9
specific protocols are guided by lymphoma subtype, Is mandatory. 190. 1 Orbital tumo~ mallgnant
comorbid ities, and response to therapy as noted on PROGNOSIS 200.81 Lymphoma malignant spedfic
follow-up PET/CT. For LH, prognosis is excellent.
In cases of locaIized, indolent OAL in an elderly o For OAL, prognosis is dependent on multiple factors.
patient, simple excision and watcllful waiting may induding OAL subtype, stage at presentation, and CLINICAL PEARLS
be all that is necessary. response to therapy (Table 2). OALD is a spectrum of lymphoproliferation, from
Although antibiotic therapy is highly effective in the polyclonal LH to monodonal ~mphorna.
treatment of H. P.)lori-assodated gastric EM ZL, o Not all OAL is equal. Certain subtypes are indolent
there Is to date no evidence that any antlblotlc Table Z Ten year mortality of OAL and localized, and others are aggressive and
regimen is effective for OAL subtypes. Note that this data precedes systemic.
The use of biologics (e.g., rituximab) is increasing. 111e use of biologics (e.g. rituximab) EMZL is the most common form of OAL and
with impressive early results. generally bmaves in an indolent fashion.
All OAL 21)-25..
ADDITlONAL TREATMENT o Bilateral OAL is a positive predictive factor for
EMZL 10% eventual systemic lymphoma.
General MNSIII8S
Long-term follow-up is indicated in all patients with FL 20-25% Regardless of OALD type, all patients require
LH or OAL. since both have a risk for subsequent DLBCL 40--45% systemic worll-up and long term monitoring.
systemic lymphoma development or reamence. MCL 75-100% The treatment of OALD varies and may indude
Issues for Refel'l'81 systemic corticosteroids, radiotherapy,
Patients wit11 IJi can be foil owed by an includes ell grades of FL DIBCL: Diffuse lariB-<ell chemotherapy, or any combination.
ophthaImologlst. as Iong as system lc monltorlng Is l)n11lhoma; EMZL: ~ranodal rna~nal zone phoma; Blologlcs may Improve OAL sul'ltval.
performed on a routine and Iong-tenn basis. Fl.: Follicular cell lymphoma; MCL: Mantle eel lymphoma;
CAL: Oallar adnexal lymphoma
Essentially all cases of OAL are referred to an
oncologist for staging and therapeutic options.
Referral to a radiation therapist may be indicated in COMPUCATlONS
o Local: Recurrence, radiation injury.
some cases of LH and OAL.
o Systemic: Related to memotherapy and systemic
SURGERY/OTHER PROCEDURES disease.
The goal of surgery is definitive diagnosis. Complete Other: Therapeutic failure, disease recurrence,
excision is usually unnecessary and not recommended transfonnation to more aggressive subtype.
because of increased local morbidity. Correct ~andling
of the tissue spedmen is essential (see Patllologit
Findings).
475
OCUlAR HYPERTENSION
Tara A. Uhler
Primary open-angle glaucoma--damage to the
nerve and visual field
DESCRIPTION HISTORY Secondary open-angle glaucoma--ilther associated
Elevated intraocular pressure (lOP >21 mm Hg) with Asymptomatic findings such as inflammation, pigment dispersion,
normal anterior chamber angle and anatomy and no PHYSICAL EXAM or pseudoexfoliation
evidence of optic nerve or visual field damage Elevated lOP with gonioscopically normal anterior Chronic angle-closure glaucoma-peripheral
EPIDEMIOLOGY chamber angle and anatomy anterior synechiae and damage to the nerve and
Incidence No corneal edema, anterior chamber reaction, or visual field
conjunctival injection
Unknown
Prevalence
4-7% of individuals older than 40 years.
No detectable optic nerve or visual field damage
fl TREATMENT
Imaging MEDICATION
RISK FACTORS First Line
No specific risk. factors identified Initial approach
Optic nerve head analysis (e.g., Heidelberg retina If treatment and not observation is planned, topical
Risk factors for subsequent development of primary topography ]HRT] or optical coherence tomography prostaglandin analogue or beta-blocker is preferred
open-angle glaucoma include increased age, lOP, ]ocn) will be normal in ocular hypertension but (3.4)]A].
cup to disc ratio, and pattern standard deviation abnormal in primary open-angle glaucoma.
(PSD) on visual field testing as well as thinner Second Line
Follow-up a special considerations Topical carbonic anhydrase inhibitor or
central corneal thickness (CCT) (1,2)]A].
Serial evaluation of the optic nerve head is necessary alpha-adrenergic agonist
Genetics to detect subsequent glaucomatous damage and
No specific markers yet identified. initiate or alter treatment. ADDITIONAL TREATMENT
An association study of Ocular Hypertension General Measures
Diagnostic Procedures/Other The decision to treat or monitor closely in the absence
Treatment Study (OHTS) participants is underway. Pachymetry--thinner corneas yield falsely low lOP
of glaucomatous damage is complicated and requires
GENERAL PREVENTION readings. and thicker corneas yield falsely high lOPs.
discussion with the patient and evaluation of risk
No preventative measures known but routine eye Visual field testing-if abnormal and consistent factors for open-angle glaucoma.
exams result in earlier identification, monitoring, and with optic nerve findings, suspect primary
intervention if glaucomatous damage occurs. open-angle glaucoma.
PATHOPHYSIOLOGY Pathological Findings
Unknown but may share features with primary None-hallmark of ocular hypertension is elevated
open-angle glaucoma lOP without detectable damage.
EnOLOGY
Unknown but may share features with primary
open-angle glaucoma
Increased CCT
Primary open-angle glaucoma
476
OCUlAR HIPERIBISION I
Additional Tllfllilplfls PROGNOSIS 4. Kass MA, Heuer DK, Higginbotham EJ, et al. The
Laser trabeculoplasty is often considered a first-line In 5 years, approximately 10% of untreated patients Ocular Hypertension Treatment Study: A
treatment option or as an ad] unct to topicaI with OOJiar hypeltenslon greater than 24 mm Hg randomiZI!d trial determines that topical ocular
medications. will develop glaucoma. hypotensive medication delays or prevents the
4.4% OJmulative risk of glaucoma deo;elopment with onset of primary open-angle glaucoma. Arch
treatment group; 9.5% without treatment (3)]A] Ophrhalmo/ 2002; 120(6):701-713; discussion
IJiser trabeculoplasty
829-830.
Trabewlectomy if progression and laser or medical COMPUCATlONS
therapy Insufficient Development of glaucomatous optic nerve and visual
Aqueous tube shunt Hprogression and laser or field damage ADDI110NAL READING
medical therapy insufficient
ICass MA. Gordon MO, Gao F, et al. OOJiar
REFERENCES Hypertension Treatment Study Group. Delaying
ONGOING CARE treatment of ocular hypertension: The OOJiar
1. Gordian MO, Beiser JA, Brand! JD, et al. The Orular Hypertension Treatment Study. Arch OphthaJmo/
FOLLOW-UP RECOM MENDA110NS Hypertension Treatment Study: Baseline factol!i that 201 0;128(3):276-287.
Iniiially patients, whether treated or not. should be predict the onset of primary open-angle glaumma.
manItored every 3-4 months according to the Arch Ophthalmo/ 2002;120(6):714-720;
standard foiiO\Y-up for primary open-angle glaucoma. discussion 829-830.
2. Brandt JD SL. Belser JA. ICass MA. et al. Ocular
. CODES
l'atlent Monitoring
Hno damage occurs in the first few years, the Hypertension Treatment Study Group. Central
ICD9
frequency of monitoring can be reduced to I!VI!ry corneal thickness in the Ocular Hypertension 365.04 Orular llypertenslon
6--12 months. Treatment Study (OHTS). Ophtha/mol 2001;
108(1 0):1779--1788.
PA11ENT EDUCATION
Patients should understand the importance of
3. Mansberger SL. Hughes BA. Gordon MO, CLINICAL PEARLS
et al. Ocular Hypertension Treatment Study Group.
manitoring and the increased risk of the development Comparison of initial intraocular pressure response Not all patients with ocular hypertension wi II
of open-angle glaucoma. with topical beta-adrenergic antagonists and develop glaucoma.
prostaglandin analogues in African American and The decision to treat wi II include patient preferences
white lndMauals In the Ocular Hypertension and evaluation of other risk. factors for glaucoma.
Treatment Study.Ard! OphrhaJmo/ 2007;125(4): Close follow-up will aiiO\Y earlier Identification of
454-459 progression to glaucoma and earlier intervention or
modification of treatment
477
OCUlAR ISCHEMIC SYNDROME
Eric Chen
Lab
Initial lab tests
DESCRIPTION HISTORY Fluorescein angiography (FA)
Ocular ischemic syndrome (015) refers to anterior Loss of vision
- Delayed or patchy choroidal filling in 60% of
and posterior segment signs and symptoms related - Most frequent symptom: present in 70% or above
patients; most specific FA sign
to chronic ocular hypoperfusion. at presentation. absent in less than or equal to
- Prolonged arteriovenous transit time in up to 95%
Most common cause is severe carotid occlusive 10%
of patients: most sensitive
disease. -Variable in severity and onset-more than 2/3 are
-Staining of retinal vessels in 85%; arterial more
The most common symptoms are monocular visual less than 20/60 at presentation; most experience
than venous staining
vision loss over week.s to months, although some
loss and ocular/orbital pain. - Leading edge of arterial dye
have abrupt vision loss - 15% with macular edema (noncystoid pattern)
Patients are also at increased risk for cerebral and
myocardial infarction. Pain-40% present with pain due to increased often with disc leak.age '
intraocular pressure (lOP) or ischemia ("ocular - Retinal capillary nonperfusion
EPIDEMIOLOGY angina --{jull, constant ache over the brow)
Consider ESR or C-reactive protein (C RP) if
Incidence Transient vision loss/amaurosis fugax suspected GCA
Relatively uncommon but probably underdiagnosed - Present in 10-15% of patients
Estimated at 7. 5 cases per million per year Afterimages or prolonged recovery of vision after
lndocyanine green angiography (ICG)
light exposure
RISK FACTORS - Prolonged arm-<horoid time; slow intrachoroidal
Males > females 2:1 (atherosclerotic disease) PHYSICAL EXAM filling time; and watershed zone filling
Older age: mean 65 years, range 50-80 years Anterior segment Imaging
No racial predilection - Conjunctival and episcleral injection Initial approach
Bilateral involvement in up to 22% of cases - Corneal edema and/or Descemet's folds Carotid Doppler ultrasound
- Iris atrophy and neovascularization (66%) -Most commonly used noninvasive test shows
PATHOPHYSIOLOGY -Anterior and posterior synechiae
Decreased vascular perfusion in the presence of anatomy and hemodynamics.
- Fixed and semidilated pupil or afferent pupil - Reduced peak. systolic velocity and increased
poor collateral circulation leads to hypoperfusion of defect (APD)
ocular tissues. vascular resistance of end arteries
- Mild iritis in 20% (flare > cell) - May be limited by complex anatomy, large plaque,
Ischemia and subsequent neovascularization -Cataract
calcific shadows. or tortuous vessels
produce ocular signs and symptoms. - Neovascular glaucoma in 113 of patients - Operator and machine dependent
- lOP may be low/nonmal second to decreased
ETIOLOGY Follow-up & special considerations
Reduced blood flow to the eye/orbit ciliary body perfusion.
- Hypotony can further exacerbate corneal Retrobulbar vessel Doppler
- Most common is severe atherosclerotic disease of - May show reversal of ophthalmic artery flow, a
carotid vascular system (generally ~90% decompensation, cataract. and maculopathy.
highly specific indicator of high-grade ICA stenosis
stenosis), with internal > common > external Posterior segment (more frequent)
or occlusion
carotid. - Narrowed retinal arteries
-Veins dilated but not tortuous Magnetic resonance angiography
- 5% lifetime risk for patients with internal carotid - Noninvasive; evaluates anatomy of intracranial
artery (ICA) stenosis to develop 015 - Retinal hemorrhages in 80% of patients, mostly
dot-blot and in midperipheral retina vessels and very accurate
- Less common: ophthalmic artery disease, systemic - limits include claustrophobia, pacemaker, metallic
vasculitis (giant cell arteritis [GCAJ), - Microaneurysms common in midperipheral retina
more visible on fluorescein angiogram ' stents, and obesity.
vasa-occlusive disease (i.e., aortic arch syndrome),
- Spontaneous retinal arterial pulsations Carotid angiography
Takayasu arteritis - Gold standard for imaging cerebrovascular
- Cherry-red spot (1 2%) from embolic or increased
COMMONLY ASSOCIATED CONDITIONS lOP induced occlusion of central retinal artery system, but expensive and invasive (risk for
Systemic vascular disease -Cotton-wool spots (6%) cerebral infarction)
-Systemic arterial hypertension (HTN) - Choroidal ischemia and peripheral wedge-shaped - Perform if surgery a consideration
- Diabetes mellitus (DM) chorioretinal atrophy Diagnostic Procedures/Other
- Coronary artery disease (CAD) - Neovascularization of disc (NVD) in 35%, Electroretinography (ERG)
- Previous cerebrovascular accident or transient neovascularization elsewhere (NVE) in 10% -Ischemia of outer and inner retina with decreased
ischemic attack. Orbital infarction syndrome amplitude of a and b waves
- Peripheral vascular disease - Ischemia of intraocular and intraorbital contents Visual-evoked potentials (VEP)
- Corneal hypoesthesia, intraocular inflammation, -Increased latency, decreased amplitude
hyp~tony. ophthalmoplegia, ptosis, proptosis, Ophthalmodynamometry
orb1tal pam - Decreased ophthalmic and central retinal artery
Systemic exam pressure
- Pulses, carotid and cardiac auscultation
478
OCULAR ISCHEMIC SYNIIIOME I
Pathological Findings lssllfls for llfl,.,ral 3. Goldstein LB, Adams R, Alberts MJ, et al. Primary
Loss of endothelial cells and pericytes in peripheral All patlents w1th OIS should have medical workup by prevention of Ischemic stroke: A guideline from t11e
retinal vessels can lead to vessel leakage. p~ mary care physldan. Ame~can Heart Assodatlon/Arnerlcan Stroke
Consider consultations from cardiology and Association Stroke Council: Cosponsored by the
neurosurgery. Atherosclerotic Peripheral Vascular Disease
Central retinal vein ocdusion (C RVO)
lnterdisdplinary Working Group; Cardiovascular
- Dilated and tortuous retinal veins (due In outflow Addlflonel Therapies Nursing Council; Clinical Cardiology Coundl;
obstruction in CRVO vs. decreased inflow in OIS) Thrombolytic therapy can be considered in appropriate
Nutrltlon, Physical ActMty, and Metabolism
- Flame-shaped (more superfldaO hemormages In patients
Coundl; and the Quality of Care and Outcomes
all 4 quadrants
SURGERY/OTHER PROCEDURES Researdl Interdisciplinary Working Group.
- Swollen optic nerve
Circuliltion 2006;1 13(24):873--923.
-Macular edema is common. Carotid endarterectomy (CEA) (3)[A]
Diabetic retinopathy - CEA and aspirin superior to aspirin alone in
- Nways bilateral, usually symmet~c prevent! ng stroke In patlents with ADDITIONAL READING
- Mlaoaneurysms and dot-blot hemorrhages symptomadc/asymptomatlc carotid stenosis
common in posterior pole as well as midperipheral - CEA for S)TI'Iptomatic stenosis of 50--99% if risk of Brown GC, Magargal LE. The ocular ischemic
retina stroke/death is less than 6% syndrome. Cli nicaI, fluorescein angioglilphic and
-Hard exudates common - CEA for asymptomatic stenosis of 6D-99% if risk carotid angiograph ic features. lnt Ophthalmol
- Rare diabetic papillopathy of stroke/death is less than 3% 1988;11(4):239--251.
- Effect on 111sual outcome Inconclusive: more Chen CS, Miller NR. Orular ischemic syndrome:
beneficial if CEA performed before development review of dinical presentations. etiology,
. TREATMENT ofNVG investigation, and management. Compr Op/1 thaimol
Carotid artery stenting Update 2007;8(1): 17-28.
Goal Is tn treat the underlying problem (ocular Slwllngam A. Brown GC, Magargal LE, et al. The
hypoperfusion) and associated owlar complications. - Alternative in patients with diffirult anatomy or
medical conditions that preclude CEA oOJiar ischemic syndrome II. Mortality and systemic
MEDICATION Extralntraaanlal bypass surgery morbidity. lnt Ophtha/mo/1 989;13:187-1 91 .
Fli'St Line - Consider if complete occlusion of ICA or common
carotid artery (CCA)
Topical treatment (1)[8] . CODES
- Sreroids-reduce inflammation
-Cycloplegia--stabilize blood-aqueous border ONGOING CARE ICD9
- lOP-lowering agents that reduce aqueous outflow 369.8 Unqualified visual loss, one eye
(beta-blockers, alpha-agon ists, or carbonic DIET
Low-fat, low~ It, low-sugar diet given other systemic 379.91 Pain in or around eye
anhydrase lnhlbltors)
- Avoid pilocarpine and prostaglandins (may cond!tfons
increase inflammation) PROGNOSIS CLINICAL PEARLS
lntravitreal injections (2)[C] Overall visual prognosis is poor.
- Anti-vascular endothelial growth factnr (VEG F) - Visual aruily at presentation is an important High level of suspicion as delayed diagnosis can lead
and steroids can be considered to treat macular predictor of final outcomes. In ocular or systemic morbidity/mortality.
edema. - Iris neovascularlzatlon at presentation assodated Consider 0IS In any older patient w1th new-onset
- Anti-VEGF may help with neovascularization. with poor visual outcome----97% of these eyes uveitis or any patient with markedly asymmetric
Second Une have final visual acuity (VA) less than finger diabetic retinopathy.
Panrelinal photocoagulation can cause regression of counting Multidisciplinary approach is needed.
NVD, neovascularization of the iris {NVI), and NVE in Systemic outcomes
113 of cases and can reduce ~sk of neovaswlar - Mortality rate 40% a1 5 years
glaucoma (NVG). o Cardiovascular disease (myocardial Infarction
NVG is ofren refractnry In medical treatment and [MI]) accounts of 213 for deaths.
may require surgery with trabeculectnmy, tube o Cerebral infarcts cause 19% of deaths.
shunt, or cydoablation if poor visual prognosis. o Cancer is the lrd leading cause.
- Mortality lille is 11 % in age- and sex-frlatthed
ADDITlONAL TREATMENT controls.
General Measures
Systemic disease must be treated as patients have
high risk of vascular death. REFERENCES
-Treatment of systemit disease: HTN, DM,
1. Mendrinos E, Machinis TG, Poumaras CJ. Ocular
dyslipidem ia, CAD Ischemic syndrome. Surv Ophthalmol 201 0;
- Antlpla1elet therapy 55(1):2-34.
- Ufesty1e modlftcatlon: smo~ng cessadon, healthy
diet. weight loss 2. Hazin R. Daoud YJ, Khan F. Ocular ischemic
syndrome: Recent trends in medicaI management.
Cuff Opin Op/lfhaJmo/2009;20(6):430--433.
479
OCUlAR SURFACE SQUAMOUS NEOPlASIA [OSSN]
Hyunjin Jane Kim
Carol L. Shields
~ BASICS
COMMONLY ASSOCIATED CONDITIONS Diagnostic Procedures/Other
HIV/AIDS Primary complete excisional biopsy is most
lm munosuppressed state appropriate if possible.
DESCRIPTION Xeroderma pigmentosum Map biopsy for large and diffuse OSSN in which a
The term ocular surface squamous neoplasia Atopic eczema plan for topical chemotherapy is considered.
(OSSN) describes a spectrum of conjunctival and Organ transplantation Some advocate impression cytology to establish the
corneal epithelial dysplasia ranging from diagnosis.
~ DIAGNOSIS
conjunctival/corneal intraepithelial dysplasia (CIN) Rose bengal staining helps delineate tumor margins.
to squamous cell carcinoma (SCC) (1 )[A]. Pathological Findings
- CIN is analogous to actinic keratosis and does not HISTORY Mild Cl N: partial-thickness replacement of the
invade conjunctival substantia propria or corneal Presenting symptoms: ocular irritation epithelium by anaplastic cells that lack normal
Bowman's layer. Ask. about history of smok.ing, sun burns. and maturation
o Mild CIN: partial dysplasia of epithelium. chemical exposure. Severe CIN: full-thickness replacement of the
o Severe CIN (carcinoma in situ): full-thickness Ask about prior eye medications and surgery. epithelium by anaplastic cells
intraepithelial neoplasia. Invasive SCC: anaplastic squamous cells displaying
Ask. about systemic conditions.
- Invasive SCC (when neoplasia breaches the hyperkeratosis and dyskeratosis invading the
basement membrane) is locally invasive and may PHYSICAL EXAM underlying stroma and adjacent tissues.
metastasize in 1-2%. Commonly occur in the exposed interpalpebral area - Mucoepidermoid carcinoma: a malignant
at or near the limbus epithelial lesion containing both mucinous and
EPIDEMIOLOGY - Conjunctival component can be gelatinous. epidermoid differentiation, which immunostain for
lnddence papilliform, or leukoplakic (white due to acid mucopolysaccharide and cytokeratin markers,
Most common tumor of the ocular surface hyperkeratosis). respectively.
- 0.03/100,000 persons in the U.S. (only of SCC; - Corneal component appears as a translucent. gray - Spindle cell carcinoma: also k.nown as
18-year period) epithelial sheet with pseudopodia-like margins. sarcomatous carcinoma with both epithelial and
- 0.13/1 00,000 persons in Uganda (6-year period) - Rose bengal staining helps to delineate tumor mesenchymal differentiation, which im munostain
- 1.9/100,000 persons in Australia (1 0-year period) margins. for cytokeratin markers and vimentin, respectively.
Prevalence Invasive SCC can be fixed to the underlying tissue
Ranks among the top three most common ocular and have large feeder vessels, with varying amounts DIFFERENTIAL DIAGNOSIS
surface malignancies with melanoma and lymphoma of leukoplakia. Benign
- Conjunctivitis (for diffuse, flat OSSN)
In one pathology series, it was the most prevalent CIN and SCC cannot be differentiated based on - Pinguecula, pterygium
malignancy of the ocular surface at 4% of 2,455 clinical features alone.
-Papilloma
conjunctival lesions in adults. Gonioscopy to evaluate iris and trabecular - Pyogenic granuloma
RISK FACTORS meshwork -Nevus
Advanced age (>60 years) May be pigmented in patients with dark complexion Malignant
Male (2)[C] - Amelanotic melanoma
Smokers DIAGNOSTIC TESTS & INTERPRETATION - Sebaceous carcinoma
Light complexion Lab - Metastasis
Exposure to UV light or petroleum products.
Human papillomavirus (H PV) 16 and 18 (conflicting
data)
Atopic eczema
Initial lab tests
HIV test if OSSN present in a young adult.
Gonioscopy to evaluate for invasion of iris and
rl TREATMENT
MEDICATION
Genetics trabecular meshwork through which sec can access Not relevant (complete excision preferred)
Expression of aberrant p53 tumor suppressor gene the systemic circulation. ADDITIONAL TREATMENT
observed in 73% of ocular surface sec. Uveitis and high intraocular pressure in the setting General Measures
of known sec should be considered to have Complete surgical removal with negative margins is
GENERAL PREVENTION intraocular invasion until proven otherwise.
Smoking cessation most desirable for tumor removal and diagnostic
Protection from the sun Imaging confirmation.
Initial approach Issues for Refe"al
PATHOPHYSIOLOGY Ultrasound biomicroscopy to estimate the depth of Because of high recurrence after an incomplete
UV-induced mutation or HPV-encoded destruction of limbal invasion of the sec. removal, early referral to an Ocular Oncology SeiVice
p53 gene Follow-up lit special considerations may be considered.
EnOLOGY Two less common but more aggressive variations of
UV light. HPV infection sec are the following:
- Mucoepidermoid carcinoma: affect the elderly, has
yellow mucinous cysts. tendency for intraocular
and orbital invasion
- Spindle cell carcinoma: greater tendency to
metastasize
480
THERAPIES
For extensive {>II mm In basal diameter) or
DIET
Not relevant
PROGNOSIS
~~ .RF~=:~::~;~E~:::::l
or surglcaI excision for the management of p~ mary
ocular surface squamous neoplasia. Ophlha/mology
I
rerurrent OSSN.. use topical chemotherapeutic as an Overall prognosis is good with extremely rare 2008;11 5:1297-1302.
adjunct to reduce the size and thickness: OSSN-related mortality. 8. Shields JA. Shields CL. De Potter P. Surgical
- Mitomydn C(MMC; toxic to ocular surface): - Assodated with local invasion management of conjunctival tumDil.. The 1994
0.4 mgfml (0.04%) 1 gtt q.i.d.; resolution in Lynn B. McMahan Lecture. Ardl Ophthalmol
lntraocular invasion via Iimbal perforating vessels
4 months (3)[A], (4,S)[C] 1997;11 5:8011--815.
gaining access to Schlemm's canal, trabecular
- 5-FiuorouradI {5-FU; toxic to ocular surface): meshwork, anterior chamber, suprachoroidal space,
10 mgfml {1 %) 1 gtt q.i.d. (6}[C) and d1oroid. ADDI110NAL READING
-Interferon a-2b ~FN; follirular conjunctivitis): - Assodated with large (>2 em) OSSN
1-3 million IU/ml 1 gtt q.i.d.; resolution in - Manifest as uveitis and glaucoma Shields CL. Demlrcl H, Karatza E, Shields JA. Clinical
Can metastasize to preauricular, submandibular, and survey of 1643 melanocytic and nonmelanocytic
6 months (7)[8)
cervical lymph nodes; paratld gland; lungs; and tumors of the conjunctiva. Ot/lthalmology 2004;
Subconjunctival injection of IFN (transient flu-like bone in advanced disease 11,:1747-1754.
symptoms) lmmunosuppressed patients are at highest risk for Shields CL. Shields JA. Tumors of the conjunctiva
Plaque brad1ytherapy for local recurrence or anterior lymph node metastasis. and cornea. Surv Ophtha/mof 2004;49:3-24.
orbital invasion Shields JA. Shields CL Premalignant and malignant
COMPUCAnONS
SURGERY/OTHER PROCEDURES lesions of the conjunctival epithelium. In: Eyelid,
Su rg leal treatment: potemlal IImbaI deilclency
Excisional biopsy for localized OSSN Conjunctival, and Orbital Tumors. An Atlas and
because of preferential location of OSSN at the
Textbook, 2nd ed. Philadelphia: Lippincott Williams
-"No toud1"technique with alcohol corneal limbus, conjunctival scarring, rerurrence if multifocal
epitheliectomy, partial sclerokeratoconjunc- disease unrecognized &Wilkins, 2008:284-305.
tivectomy, and double freeze-thaw CI)'Othera py Spencer WH. Conjunctiva. In: Spencer WH, ed.
Medicaltreatment: local toxicity, recurrence due to
(8)]A) Ophlhalmic pathology. an atlas and textbook, 4th
poor penetration beyond the epithelium
ed. Philadelphia: WB Saunders, 1996:38--125.
- Marglr-6: 2-4 mm {greater If suspecting Invasive Yanoff M. Conjunctiva. In: Yanoff M, Sassani JW, ed.
SCC) beyond the dinical margir-6 of the tumor and Ocular palho/ogy. 6th ed. Amsterdam, Netherlands:
a thin lamella of the underlying sclera should be REFERENCES
Elsevier, 2009:223-254.
removed. 1. Lee GA, Hlrst LW. Ocular surface squamous
Excision of larger OSSN requires tissue graft neoplasia. Surv Ophlhalmo/199 5;39:42!1--450.
Plaque radiotherapy for local intraocular invasion 2. Shields CL. Manchandia A. Subbiah R, et al. CODES
Enucleation for diffuse intraocular invasion Pigmented squamous cell cardnoma of the
Eyelid-sparing e~~enteration for elltensive orbital conjunctiva in 5 cases. Ofilthalmo/ogy ICD9
invasion 2008;115:1673-1678. 190.3 MaIignant neoplasm of conjunctiva
IN-PAnENT CONSIDERATIONS 3. Hlrst LW. Randomized controlled trial of topical 190.4 Malignant neoplasm of cornea
Not relevam mitomycin Cfor ocular surface squamous 234.0 Carcinoma in situ of eye
neoplasia. Ot/lthalmo/ogy 2007;114:976--982.
4. Shields CL. Naseripour M, Shields JA. Topical
ONGOING CARE mitomydn C for extensive, recurrent mnjunctival CLINICAL PEARLS
squamous cell carcinoma. Am J Ophthalmol
FOLlOW-UP RECOM MENDA110NS 2002;133:601~6. Most common epithelial neoplasm of the cornea
Long-term follow-up (> 10 years) necessary because and conjunctiva
5. Shields CL. Demirci H, Marr BP, et al.
of high recurrence, but most occur within the flrst Chemoreduction with topical mitomydn Cprior to
2 years. Associated with age. sun e11posure, smok:i ng. HPV.
resection of extensive squamous cell cardnoma of and immunosuppression
-Up to 30% with negative surgical margins
the conjunctiva. AldJ Ofilthalmo/ 2005; 123: Clinically appear as a fleshy mass or let~koplakia,
- More than SO% with positive surgical margins
10~113. usually located at or near the limbus. with feeder
- Recurrence is now mud11ess with the use of
adjunctive topical chemother.~py and IFN. 6. Yeatts RP, Engelbredlt NE, Curry CD, et al. vessels and possible comeallnvolvemem
5-Fiuorouracil for the treatmem of intraepithelial A complete excision with negative margins
PA11ENT MONITORING neoplasia of the conjunctiva and cornea. preferred, whenever possible
Follow-up every 2--4 mllllths until clinical resolution if Ophthalmology 2000;1 07:2190--2195. Adjunctive topical d1emotherapy and IFN assodated
using topical agents with lower recurrence rate
481
OCUlAR SYPHIUS
Alok S. Bansal
Jeremy D. Wolfe
~ BASICS
PATHOPHYSIOLOGY Treponemal-specific: Fluorescent treponema!
Transmission of acquired syphilis may occur through antibody absorption (FTA-ABS) or
direct contact with syphilis sore on external genitals. microhemagglutination-T. pallidum (MHA-TP)
DESCRIPTION vagina, anus, rectum, or lips and mouth during - Remain reactive from time of infection, thus
Chronic, multiorgan, systemic bacterial infection vaginal, anal, or oral sex. should not be used to monitor therapeutic
caused by spirochete Treponema pa/lidum. Transmission of congenital syphilis occurs by response.
Responsible for 1-2% of all uveitis cases. transplacental contact. lumbar puncture with cell count, protein, glucose,
Ocular syphilis is considered a variant of Ocular inflammatory response to infection caused by and CSF-VDRL to evaluate for neurosyphilis.
neurosyphilis (see below). bacteria Treponema pallidum. - CSF-VDRL is highly specific. but not sensitive
Congenital syphilis (systemic findings): - 2006 CDCguidelines recommend lumbar
ETIOLOGY
- Early (<2 years of age): Hepatosplenomegaly, puncture in all cases of ocular involvement,
Treponema pallidum, spirochete
long bone changes, mucocutaneous lesions of although practical indications for lumbar
buttocks and thighs COMMONLY ASSOCIATED CONDITIONS puncture are controversial (3)[A]
- Late (>2 years of age): Frontal bossing, HIV
- Isolated syphilitic anterior uveitis without
saddle-nose deformity, saber shins, Hutchinson Other sexually transmitted diseases
neurologic signs/symptoms may not require
teeth, deafness
lumbar puncture
Acquired syphilis (systemic findings):
- Primary: Self-limited painless genital chancre ~ DIAGNOSIS Follow-up & special considerations
HIV serology due to high rates of coinfection
- Secondary: Maculopapular rash an palms and
HISTORY False-positive and false-negative rates of syphilis
sales, generalized lymphadenopathy, fever,
Maternal syphilis serologic testing may be higher in HIV patients.
malaise
- Early latent (exposure within the last year): HIV
Imaging
Seroreactivity without clinical manifestations High risk sexual behavior
Consider MRI for any suspected case of optic nerve
- Late latent or latent syphilis of unknown duration Pain, redness, photophobia, blurred vision, floaters involvement and/or neurosyphilis.
(exposure > 1year): Seroreactivity without clinical PHYSICAL EXAM
manifestations Diagnostic Procedures/Other
Syphilis may affect any or all ocular structures lumbar Puncture with CSF-VDRL
-Tertiary: Gummas. neurosyphilis. cardiovascular
abnormalities (aortitis) (2)[A[ Pathological Findings
Congenital Syphilis: Corlcscrevv morphology on darkfield microscopy (not
EPIDEMIOLOGY commonly performed).
- Early: Chorioretinitis, retinal vasculitis,
Incidence
saltandpepper" retinal pigment mottling DIFFERENTIAL DIAGNOSIS
Congenital: 10.1/100,000 in 2008 (1)[A] - late: Interstitial kl!ratitis with corneal Ocular syphilis carries a broad differential diagnosis
- Increased 23% from 2005 vascularization, ghost vessels due to its protean manifestations
Primary & Secondary: 15.3/1 00,000 in 2008 Acquired Syphilis: - Sarcoidosis
- Increased 37% from 2005 - Primary: Ocular manifestations rare -Tuberculosis
- Secondary: Anterior uveitis (granulomatous or -Toxoplasmosis
Regional: Highest rates (50%) in Southern U5
non-granulomatous), iris nodules. scleritis, - Vogt-Koyanagi-Harada syndrome
Age: Highest rates in 20-24 year olds vitreitis, retinal vasculitis, retinal vascular - HLA-B27 associated uveitis
63% of cases in US among men who have sex with occlusion, chorioretinitis (focal or multifocal), - Pars planitis
men posterior placoid chorioretinitis, neuroretinitis, -Acute retinal necrosis
Prevalence exudative retinal detachment optic neuritis, - CMV retinitis
Due to the rarity of ocular syphilis and incomplete cranial nerve palsies - Fungal endophthalmitis
reporting to the CDC, true prevalence data (i.e., total - latent: Asymptomatic with recurrences -White dot syndromes (e.g., APM PPE)
cases) is not well known. -Tertiary: Argyii-Robertson pupil (pupil reacts to - Lyme disease
near target not to light stimuli), cranial nerve - Beh~et's disease
RISK FACTORS palsies. other ocular findings similar to those with - Diffuse unilateral subacute neuroretinitis
High-risk sexual behavior secondary syphilis. - Toxocariasis
HIV coinfection
DIAGNOSTIC TESTS & INTERPRETATION - Presumed ocular histoplasmosis
Intravenous drug abuse
Lab
GENERAL PREVENTION Initial lab tests
Prenatal care to prevent congenital syphilis Non-treponema!: Rapid Plasma Reagin (RPR) or
Safe sexual practices Venereal Disease Research Laboratory (VORL)
- Fourfold decrease in antibody titer used to
monitor response to therapy
- False-positives (collagen-vascular disease) and
false-negatives (prozone phenomenon)
482
OCUlAR SYPIIIUS I
lssllfls for llfl,.,ral PROGNOSIS
. TREATMENT Prompt referral to ophthalmologist for any Visual prognosis dependent on severity of ocular
suspected case of Intraocular Involvement Inflammatlon
MEDICATION Prompt referral to infectious disease spedaIist for COMPLICAnONS
RrstLine mnmmitant HIV minfection Corneal scarring
Prompt referral to neurologist for suspected Cataract
Congenital: Aqueous ci}'Stalllne penicillin G 50,000 neurosyphilis
untts/kgfd r.l q12 hrs for flrst 7 days of life. and q8h Glaucoma
thereafter for total of 10 days OR Proc:ai ne pen idllin COMPLEMENTARY & ALTERNATIVE Macular Edema
G 50,000 unitslkgfd IM x 10 days (3)[A) THERAPIES Retinal detachment
Primary, semndary, or early lall!nt syphilis: Bicillin C-R (combination benzathine and procaine
Ben2athine penicillin G 2.4 MU IM in single dose penicillin) should ba avoided as altllrnata
(3)[A] b'Ntmant because it tonta ins haIf the dose of REFERENCES
Late latent or ll!rtiary withcut evidence of benzathlne penicillin G (3)[C).
P~mary, secondary, or ea~ larent Ceft~axone 1 gm 1. Centers for Disease Control and Prevention.
neurosyphilis: Benzathine penicillin G 2.4 MU IM, Sexually Transmitted Diseases SuM!illance 2008.
weekly x 3 doses (3)[A] 1M/IV x 8-1 0 days (3)[C] or Azithromycin 2 gm PO
x 1 dose (3)[C) Atlanta, GA: U.S. Department of Health and Human
Neurosyphilis: Aqueous penidllin G3-4 MU r.l q4h Services; Nov 2009.
x 1o-14 days OR Procaine penicillin G2.4 MU IM q Lall! latent or tartiary without evidence of
2. Aldave AJ, King JA, Cunningham ET Jr. Ocular
day PLUS Probenedd 500 mg PO q.i.d x 10-14 neurosyphilis: Ceftriaxone (unknown dose or
syphilis. CuffOpn Ophtha/mol 2001;12:433-441.
days, followed by Benzathine penicillin G 2A MU duration) (3)[C)
IM, weekly x 3 doses (3)[A) Neurosypllilis: Ceftriaxone 2 gm 1M/IV x 3. Center for Disease Control and
1D-14 days (3)[C) PreYl!ntion.Worknwski KA, Berman SM. Sexually
Manage oa.!lar inflammation with cyclopleg ics, and transmitll!d diseases treatment guidelines 2006.
topical, periocular, and/or oral corticosteroids Penicillinallergic patients may exhibit MMWR Recomm Rep 2006;55:1-94.
Note: Pe~oaJ lar (depot) steroids shoold not be aoss-reactivity to celtriaxone (~ 10%)
employed until other infectious etiologies for The use of alternative therapies In HIV+ patients
inflammation are eliminated from differential has not been well srudied, and should be managed
with (aution. . CODES
diagnosis or identified and treated concurrently.
SecondUne ICD9
$ ONGOING CARE 091.50 Syphilitic lM!itis. unspedfied
ALERT
FOLLOW-UP RECOMMENDATIONS 091.51 Syphilitic chorioretinitis (secondary)
Penicillin Allergy:
095.8 Other spedfled forms of late symptomatic
-For congenital syphilis, neurosyphilis, pregnancy, Quantitative non-treponema! (RPR, VORL) titers syphilis
or HIV+. patients should undergo should be repeated every 6 months for 2 years
de-sensitization and be treated with penicillin (every 3 months for 2 years if HIV+) to monitor for
(see above) ri!SJXlnse to treatml!nt (i.e., fourfold dedine in titl!rs) CLINICAL PEARLS
- For primary, secondary, lall!nt, or tertiary syphilis (3)[A]
wltt1out neurosyphilis. see below: - Follow either RPR or VORL because tests are not
Syphilis should be on the differential diagnosis of
- Primary, secondary, or ea ~Y larent: Doxycydine any case of intlliDrular inflammation.
directly comparable
100 mg PO b.i.d x 2 weeks OR Tetracycline - A VORL till!r > 1:8 should dedine at least fourfold Ocular syphilis is a manifestation of neurosyphilis.
.500 mg PO q.i.d x 2 weeks (3)[A] within 1 year of appropriate treatment Treatment regimen for oaJ lar syphilis should be the
- Lata lall!nt or ll!rtiary without avidanca of - A VORL titer < 1:8 often does not decrease same as for tertiary neurosyphilis.
neurosyphilis: Doxycydine 100 mg PO b.i.d x fourfold All patients with syphilis should be tesll!d for HIV.
4 weeks OR Tetracycline 500 mg PO q.l.d x Consider retreatrnent for:
4 weeks (3)[AJ - Persistent or recurrent signs/symptoms of syphilis
- See also AltematiYl! Thera pies. - Fourfold increase in antibody till!rs
- l.l!ssthan "fourfold decrease in antibody till!rs
ADDITIONAL TREATMENT PATIENT MONITORING
General Measures Serial ophthalmic examinations for resolution of DC\Jiar
ALERT inflammation
Monitor for JarischHelllheimer reaction: PATIENT EDUCATION
- Acute febrile reaction that occurs within Coonseling for safe sexual practices
24 hours of treatment due to penicilli ninduced Coonsellng for partners of affected patients
spirodlete death.
-Treat with supportive care
483
OPEN-ANGLE GlAUCOMAS
Patrick Tiedeken

Screening for glaucoma is most effective if aimed at
high-risk groups: elderly and African Americans
Visual Field Tests
Corroborates the clinical exam findings of ON
DESCRIPTION damage (Superior ON damage causes inferior visual
A diverse group of neurodegenerative eye diseases
PATHOPHYSIOLOGY
Final pathway is damage to the retinal ganglion field changes.)
that result in a typical excavated appearance of the Nonglaucomatous optic neuropathies: lack of
optic nerve (ON) cells.
1 Million ganglion cells in each ON correlation of visual field changes with ON damage.
Associated with midperipheral and central visual Glaucomatous optic neuropathies: tile site and
field defects with the intraocular pressure (lOP) as a Ganglion cell axon travels from the retina to the
lateral geniculate body of the thalamus. extent of the disc damage correlates with the
major risk. factor severity and location of visual field loss.
Glaucomas are divided into open-angle glaucoma 2 General theories of glaucoma ON damage: (1)
VASCULAR-abnormality of blood flow damages Follow-up i spec:ial considerations
(OAG) types if the trabecular meshwork can be
ganglion cells. (2) MECHANICAL-weakness of Early glaucoma ON damage can have a normal
visualized, or closed-angle glaucoma if the
lamina cribrosa (specialized connective tissue at the visual field" (preperimetric glaucoma).
meshwork cannot be visualized.
level of the ON canal) causes damage to the Postmortem studies showed that 50% of ganglion
OAG is further subdivided into primary OAG if there
gangIion cell axons. cells can be lost prior to abnormalities in the visual
are no other ocular or systemic diseases present.
field.
Secondary OAG if associated with an ocular cause ETIOLOGY
(i.e., exfoliative or pigmentary glaucoma) or a lOP is the most significant and treatable risk factor. Imaging
systemic disease (i.e., amyloidosis). Degree of glaucomatous ON damage is directly Initial approach
related to the lOP level. Serial, stereoscopic optic disc photography is the most
EPIDEMIOLOGY accurate method of diagnosis and follow-up.
lnddence lOP 25-29 mm Hg = 7% prevalence ON damage.
lOP 35-39 = 52% prevalence ON damage Follow-up i spec:ial considerations
2 million patients in the USA (50% undetected)
Newer imaging techniques may improve clinical
Glaucoma is the second leading cause of blindness ON damage can occur at normal lOP (>21 mm
assessments (scanning laser polarimetry, confocal
in the USA. Hg): Baltimore Eye Study demonstrated that 50% of
scanning laser tomography, optical coherence
all OAG patients had screening lOPs of <21 mm Hg.
Prevalence tomography).
10 million patients at risk. as ocular hypertensives
(elevated lOP with normal ONs and visual fields) ~ DIAGNOSIS DIFFERENTIAL DIAGNOSIS
OAG is a diagnosis of exclusion.
RISK FACTORS Optic disc pallor in excess of excavation suggests a
HISTORY
High lOP (major risk factor) nong laucomatous optic neuropattly.
OAG is a diagnosis based on exam ofthe ON.
Old age Nonglaucomatous optic neuropathy may include
- 4(}-49 years = 0.22% prevalence PHYSICAL EXAM intermittent angle-closure glaucomas, anterior
-80 years= 14% prevalence A dilated stereoscopic exam is the most accurate. ischemic optic neuropathies (giant cell arteritis),
African American-3 times increased prevalence Important ON findings: large cup/disc ratio compressive optic neuropathies. congenital ON
(vs. Caucasians) and more severe disease (decreas7d ganglion cell axons), ON asymmetry, colobomas. and dominant ON atrophy.
Family history (5-19% increased risk) progressive cup enlargement, neural rim notching,
Migraine headaches, myopia, hypertension vertical cup enlargement. regional ON pallor.
splinter disc hemorrhage, enlarged ON pit
484
OPEN-ANGLE GlAUCOMAS I
o Studies comparing patient outcomes with differerrt REFERENCES
. TREATMENT treatment protocols
- Glauc:urna Laser Trial: compared argon laser 1. Kas5 MA, Heur DK. Higginbotham EJ, et al.lhe
ADDITIONAL TREATMENT trabeculoplasty with standard topical medidnes Ocular Hypertensive Treatment Study: A
GeflfiRIII lrfNSUrN randomized trial determines that topical ocular
for lowering lOP in newly diagnosed, urrtreated
lOP reduction ID preverrt further optic disc damage hypotensive medication delays or prevents the
OAG patients. 2-year results demonstrated no
and visual loss is the goal of treatment major differences in terms of visual acuity or visual onset of p~ mary open-angle glaucoma. ArdJ
field changes (4)[A]. Optila/mo/2002;120:701-713.
Treatment options either lower aqueous product!on
or increase aqueous outflow ID decrease I0 P. -Collaborative Initial Glaucoma Treatment 2. The AG IS Investiga!Drs. The Advanced Glaucoma
Study: showed that newly diagnosed OAG Intervention Study (AGIS). The relationship between
o 3 Main treatment tategories:
patients randomized ID initial treatment with control or intraocular pressure and visual field
-Topical medications (,6-blockers. prostaglandins deterioration. Am 1 Ophthalmol
analogs. alpha-agonists, cholinergic agonists, medications and lasers versus su rg leal
trabecu lectomy had similar 5-year visual field 2000;130:429-440.
carbonic anhydrase inhibitors [topical or oraiD
- Office laser procedures (laser trabeculoplasty) outcomes (S)[A]. 3. Anderson DR, Drance SM, Sd'lulzer M, et al.
- Operating room lnclslonal su rge~es - Tube Versus Trabeallectorny Study: Natural history of normal-tension glaucoma.
compared OAG padent outcomes who had prior Collaborative Normal Tension Study Group.
COMPLEMENTARY & ALTERNATIVE eye surgery (glaucoma or cataract surgery} and Ophthlimology 2001 ;1 06:247-253.
THERAPIES were randomized to glaucoma drainage implant 4. The Glaucoma Laser Trial Research Group. The
OAG D"NtmMt ials surgery (Baerveldt) or trabeculectomy. Tbe 3-year Glaucoma Laser Trial (GLn. Ophthalmology
Studies demonstrating that lowering lOP slowed ON clinical outcomes were similar (6)[A]. 1990;97:1403-1413.
damage S. Lichter PR, Musch DC, Gillespie BW, et al. Interim
- 001lar Hypertensive Treatment Trial: clinical outcomes in the Collaborative Initial
patients with lOP 24-32 mm Hg with normal ON
ONGOING CARE Glaucoma Treatment Study comparing initial
and visual fields treated with standard medicines treatment randomized to medications or surgery.
PROGNOSIS
versus observation showed 9.5% of observed Patients v.1tll worse visual fleld loss and ON damage Ophthalmology 2001 ;1 06:1943-19 53.
group versus 4.5% of medically treated group at diagnosis have a higher risk of blindness. 6. Gedde S, Schiffman J, Feuer W, et al. Treatment
developed OAG [t)[A]. o Ea~y diagnosis and effective lOP-lowering treatment
outcomes In the Tube Versus Trabeculectomy Study
- Colllllbanrtiva Nanr1111l Tansian Glaumma are critical to visual field preservation. after one year follow-up. Ophthalmology
Study: showed that a 30% lOP reduction of an 2007;143:!1-22.
Some patients witll OAG progress despite lOP
initially normal lOP (<21 mm Hg), preverrted or lowering and require more aggressive treatment
delayed OAG progression in 80% or patients in
Close monitoring and follow-up of all patients with
5 years (2)[A].
OAG are critical to preserve vision. . CODES
-Advanced Glaucoma Intervention Study:
showed that patients with advanced visual field OveraII quaIity of life issues are critical to the
treatment of patients with glaucoma. ICD9
loss who had lOP controlled (< 18 mm Hg) t DO% o 365.1 0 Open-angle glaucoma, unspedfied
of office visits had no progression of visual field 365.11 Primary open angle glaucoma
loss. l'iltients with lOP > 18 mm Hg at 50% of
offiCA! visits had significant worsening of visual
field (3)[A].
485
OPHTHALMIC SARCOIDOSIS

Lofgren's syndrome-arthritis, erythema nodosum,
and bilateral hilar adenopathy
All cranial nerves should be evaluated, particularly
cranial nerve VII.
Glaucoma and cataracts may result and should be
DESCRIPTION Sjiigren-lilce syndrome--lreratoconjunctivitis sicca, followed.
Sarcoidosis is an idiopathic systemic inflammatory parotid dysfunction, and lacrimal gland dysfunction Optic nerve infiltration should be evaluated with
disease. Erythema nodosum-mostly in women visual acuity, visual fields, color plates, pupillary
It most commonly affects eyes, lungs, and slcin. Arthritis-rheumatoid or juvenile rheumatoid examination, and neurology consultation to
Up to 80% of patients have ophthalmic involvement. Heerfordt's syndrom~arotid enlargement evaluate for neurosarcoidosis.
Sarcoidosis can affect any part of the eye, orbit, and anterior uveitis, and cranial nerve palsies Full physical exam should evaluate for tachypnea,
adnexa. Blau's syndrome (familial juvenile systemic arthritis, lymphadenopathy, hepatosplenomegaly,
- Sarcoidosis may only affect the eye or may affect granulomatosis)-<hildren may present with erythema nodosum (most commonly found over
the eye before or after systemic involvement. granulomatous arthritis, skin and eye pathology. shins), and lupus pernio.
-Within the eye, the anterior segment is most Hepatitis C-it is possible interferon therapy, and Imaging and further evaluation as below.
commonly involved (up to 70%). not hepatitis C. is associated with sarcoidosis.
-Within the orbit, the lacrimal gland is most DIAGNOSTIC TESTS & INTERPRETATION
commonly involved (up to 61 %). Lab
-Within the lungs, bilateral symmetric hilar
adenopathy is the most common radiographic
~ DIAGNOSIS Initial lab tests
ACE: elevated in 60--90% of patients with active
finding. HISTORY sarcoidosis. Rates tend to be higher in those with
- Skin lesions commonly include erythema nodosum Systemic symptoms such as fevers, chills. sweats, active signs and symptoms. ACE may be normal in
(erythematous tender subdermal nodules) and and weight loss more than 9% of subjects with active sarcoidosis,
lupus pernio (purple rash on face). Sarcoidosis most commonly affects the lungs, eyes. and is typically unreliable in children. Furthermore,
and skin. A focused history is therefore targeted 17% of normal patients may have elevated ACE
EPIDEMIOLOGY levels, and ACE levels may be decreased in those on
toward but not limited to
Varies widely with geography ACE inhibitors. Sensitivity and specificity of ACE for
- Coughing, wheezing, dyspnea, tachypnea, rashes,
Can occur in any age, but most common between skin lesions. and arthritis are common systemic ophthalmic sarcoidosis range from 70% to 90% in
20 and 40 years, and rare after 50 years symptoms. most studies. Although widely used, the sensitivity
More prevalent in women than in men -Anterior, intermediate, or posterior uveitis: pain, and specificity therefore make ACE levels a less than
- In Norttl America, highest prevalence amongst photophobia, floaters, redness, and decreased ideal screening test.
African Americans: 35.5 cases per 100,000 vision Kveim test: splenic tissue from sarcoidosis patient
- In World, highest prevalence amongst Northern - Conjunctival or scleral involvement: pain, redness, injected into skin of the subject. If granulomas result
Europeans: up to 60 cases per 100,000 pain with motility, and tearing several weeks later, test is positive (rarely used any
- Bimodal pealcs in Scandinavia: (2 5-29 years of - lid or skin involvement: dry and itchy eyes, and longer due to lack of sensitivity/specificity and
age and 65-69 years of age) scaling skin inherent health rislcs).
RISK FACTORS - Orbital muscle or soft tissue involvement: pain Thorough workup to evaluate differential diagnosis
African or Norttlern European extraction with motility, proptosis, diplopia, decreased vision, of above presenting symptoms and signs (see
Although not definitive. environmental triggers such and ptosis Differential Diagnosis: HLA-827, rapid plasma
as pesticides and pollutants have been postulated. - Lacrimal gland involvement: adnexal tenderness, reagin (RPR), antinuclear antibody (ANA), Lyme
enlargement, and dry eyes antibodies, rheumatoid factor (RF), ESR, and other
Genetia target laboratory values may be obtained.
May be familial, often minimal concordance PHYSICAL EXAM
Physical exam should be a thorough ophthalmologic - Purified protein derivative (PPD) and anergy panel
Association with various HLAs and gene products is - Serum and urine calcium levels, liver function
a current area of research. evaluation of all aforementioned ocular anatomy.
tests, and serum lysozymes are of variable utility
Two genomewide scans for sarcoidosis loci: Visual acuity, intraocular pressure, visual fields, and
without radiographic or histologic evidence of
-White Germans-<hromosomes 3p and 6p extraocular motility should be documented in all
sarcoidosis (see below). although some authors
-African AmericanS-<hromosomes Sp and 5q patients.
advocate their use.
- Genes uncovered may be biased by populations Anterior slit lamp exam includes evaluation of
conjunctival nodules. conjunctivitis. episcleritis,
Follow-up a spec:ial considerations
studied. Pulmonary, dermatologic, or neurologic involvement
scleritis. lacrimal gland enlargement, dry eyes,
GENERAL PREVENTION corneal edema, lceratic precipitates (may be should involve internal medicine, pulmonology,
None available granulomatous. particularly in a triangular dermatology, and neurologic referral. Further
distribution on the inferior corneal endothelium), evaluation and treatment as below, is often
PATHOPHYSIOLOGY performed in conjunction with healthcare practitioners
See pathological findings. anterior chamber cell and flare, peripheral anterior
synechiae, and posterior synechiae. in those fields.
Impetus of noncaseating granuloma formation
remains unknown; lilcely that some nidus of Posterior slit lamp and indirect fundus exam should Imaging
inflammation, once cleared, triggers an uncontrolled evaluate for peripheral retinal neovascularization, Initial approach
inflammatory cascade. periphlebitis and peripheral retinal vein sheathing Chest X-ray: evaluate for bilateral hilar adenopathy or
(candle-wax drippings), intermediate uveitis, vitritis. infiltrates.
EnOLOGY cystoid macular edema, optic nerve edema, and
Unlcnown, see pathophysiology. Dalen--Fuchs nodules.
486
OPHlHAIMIC SARCOIIOSIS I
Follow-up 1: specll cansldel1ltlons
Chest CT if Xray irregular or noncondusivl!

MRlto !!Vi!Iuate neurosarcoidosis if warrantl!d
VisuaI fields obtained for optic nerve involvement MEDICATION FOLLOW-UP RECOMMENDATlONS
FlrstUne Manage appropriately to resolution of presenting
Consider fluorescein angiogram, B-scan issue.
ultrasonography, and optical coherence tomography Anterior uveitis: topical steroids (e.g., prednisolone
to further I!Vi!luate ophtl1almic findings {e.g., retinal acetate 1% q.l.dJ, cyclopleglcs (e.g., atropine 1% Follow-up inteMis depend on severity of
vasculitis, neovascularization, ischemia, macular b.i.d.) to prevent synechiae Inflammation, and patients are usually followed
edema, vitreitis, sderitis). Posterior uveitis: systemic steroids {e.g., prednisone every 1-7 days.
Whole-body gallium scan, when combined witl1 2D-100 mg p.o. daily) with a histamine type 2 Stl!roid doses. whether topical or oral, are adjusted
positive ACE, is up to 73% sensitive and 100% ri!CI!ptor blocker or proton pump inhibitor for according to response to treatment and are tapered
specific for sarcoidosis. It has been shown positive in gastrointestinal prophylaxis. Pe~ocular steroid as dinical progress allows.
90% of lacrimal glands of sarroidmis patients even injections {e.g., 1-4 mg of sub-tenon triamcinolone Patients treated with oral steroids should be seen by
witl1out clinicaI changes. A panda sign indicates 40 mglml) tl1elr prtma ry care physldans every 3-6 weeks for
involvement of the laaimal, parotid, and OrbitaVneurologic involvement: systl!mic general exams and blood work to evaluate blood
submandibular glands, and a "lambda sign immunosuppression, usually with corticosteroids pressures and blood sugars.
connotes perlhllar and paratracheal node initial~ Quiescent disease is reevaluated every 3-6 months.
Involvement. - Majority of sarcoidosis cases regress
Dlagnastlc ProceduteS!Other spontaneously but observation recommended.
ADDITIONAL READING
Biopsy is considered if lesions are accessible, and all ScondUm~
samples should be examined for typical granulomas High-dose NSAI Ds (standard of care in the U.K.). Ian niJZ2 MC, Rybicki B, Teirstei n AS. Sarcoidosis.
wltl1 negative spedal stal ns (methenaml ne-sllver to Systemic immunomodulators (e.g., methotrexate, NEng JMed 2007;357:2153-2165.
rule out tuberculosIs and fungal Infections, and cydospo~ne. hydroxyc:hloroqulne) If steroids fa lied Obenauf CD, Shaw HE, Sydnor CF, Klintwortl1 GK.
add-fast to look for mycobacteria). or poo~y tolerated, and referral to uveitis spedalist Sarcoidosis and its ophthalmic manifestations.
Conjunctiva may be biopsied: yield of blind is often necessary. Am 1 Ophthalmal 1978;86{5):648-655.
conjunctival biopsy is 66% in sarcoidosis patients Surgical debulking or radiation therapy. Bradley D, Baughman RP, Raymond L, Kaulman AH.
and 80% in those witl1 conjunctival involvement. Cystoid macular edema may be treated with topical Ocular manifestations of sarcoidosis. Semin Respr
L.aalmal gland biopsy In patients suspected of NSAIDs (e.g., ketorolac q.l.d.), topical or pertocular Crlr Care Med 2002;23{6):543-548.
having lacrimaI gland involvement has around a steroids as above, or systemic lmmunomocfulators as
60% yield. above.
Skin lesions may be biopsied: the edges of lesions Orbital and central nervous system disease usually f ; coDES
.should be sam pled. Erythema nodosum does not requires systemic steroids or immunomodulators as
contain patl1ologic changes. above. ICD9
Bronchoscopy with pulmonary biopsy may be Glaucoma should be managed with topicaI thenapy 135 Sarcoidosis
performed with consideration from a pulmonologist (e.g., alpha agonists such as brimonidine 0.1% or 364. 11 Chronit iridocyclitis in diseases dassified
and/or cardiotl1oracic surgeon. See Issues for beta blockers such as timolol 0.5%), when possible. elsewhere
Referral. with care to avoid prostaglandin analogues (e.g.,
Pathological Findings latanoprost), as t11ey may worsen inflammation.
Noncaseatlng granulomas, or cong regatlons of Retinal neovascularization may require panretinal CLINICAL PEARLS
epithelioid cells and macrophages, with negative photocoagulation.
Sarcoidosis may affect any part of the eye and orbit
special stains as above. ADDmONAL TREATMENT and should therefore be considered in the
DIFFERENTlAL DIAGNOSIS Issues for Refettal differentiaI of many orbital and ocular conditions.
May entail any potential etiology of symptoms listed Referral to an internist is warranted to evaluate Anterior uveitis is the most common ophtl1almic
In history possible systemic Involvement: studies show sign.
May entail otl1er causes ol granulomatous between 50% and 91 % of patients with primary Lacrimal gland Involvement Is t11e most com man
inflammation including mycobactl!rial infection as ophtl1almic sarcoidosis manifest systl!mic signs. and orbital sign.
diagnosed by biopsy witl1 special stains that systl!m ic sarcoidosis may often present with Many patients have no previous history of
- Other causes of granulomatous antl!rior uveitis ophtl1almic changes. sarcoidosis.
Include syphilis, 111berculosls, sympathetic Referral to a pulmonologist for bronchoscopy,
ophthalmia, trauma, lens-induced iritis, and rarer pulmonary fu nctlon test! ng, and biopsy may be
autoimmune pathologies. warrant!!d. often witl1 the guidance of an intem ist
- Multiple sclerosis, idiopathic cases, Lyme disease. lmmunosuppression, as indicatl!d above.. is often
inflammatory bowel disease, toxoca riasis, cat coordinated witl1 a primary care practitioner.
scratch disease, andtubulointerstitial nephritis and Optic nerve or central netVOus system involvement
uveitis syndrome may cause intermediate uveitis. warrants prompt neurology and
- Posterior uveitis may be secondary to white dot neuroophtl1almology consultation.
syndromes.. syphilis, lymphoma, sympathetic
ophthalmia, and Vogt-Koyanagi-+larada SURGERY/OTHER PROCEDURES
syndrome. See second-! ine therapy
487
OPnC DISC COLOBOMA
Michael J. Bartiss

Possible genetic counseling and/or prenatal testing (if
mutated gene known or syndrome recognized in
~ DIAGNOSIS
DESCRIPTION family) HISTORY
Well defined. white bowl-shaped excavation Congenital defect
inferior~ displaced in an enlarged optic disc
PATHOPHYSIOLOGY
Neuroimaging demonstrates a crater-like excayation of PHYSICAL EXAM
Excavation location reflects position of the the posterior globe at its junction with the opt1c nerve Full ocular examination including careful evaluation
embryonic fissure relative to the primitive epithelial of the optic discs and evaluation for concomitant
papilla ETIOLOGY treatable amblyopia
More involved cases appear as enlargement of the Thought to result from incomplete or abnonmal. Systemic examination for other anomalies
peripapillary area with a deep, central excavation coaptation of the proximal end of the embryomc
lined by glistening white tissue fissure DIAGNOSTIC TESTS It INTERPRETATION
Superior disc typically spared. but occasional COMMONLY ASSOCIATED CONDITIONS
Lab
involvement of the entire disc occurs Initial lab tests
May be accompanied by multiple systemic conditions
Defect can extend into the adjacent inferior and None unless associated systemic abnormalities exist
such as:
nasal choroid and retina Follow-Up i Special Considerations .
CHARGE Association
Iris and ciliary body colobomas can coexist Significant risk of acquired visual loss thr?ugh retmal
Wallcer-Warburg Syndrome detachment dictates regular follow up w1th careful
Visual acuity is primarily dependent upon integrity of Goltz Focal Dermal Hypoplasia
the papillomacular bundle; may be retinal evaluation.
Aicardi Syndrome
mildly-to-severely decreased Pathological Findings .
Goldenhar Sequence
Visual acuity difficult to predict based on Presence of intrascleral smooth muscle onented
appearance ofthe disc Linear Sebaceous Nevus Syndrome concentrically around the distal optic nerve.
Occur unilaterally and bilaterally with approximate~ Increased risk of acquired visual loss through serous
retinal detachment in cases of isolated optic nerve DIFFERENTIAL DIAGNOSIS
equal frequency Morning Glory Disc Anomaly (funnel-shaped
coloboma (versus the typical rhegmatogenous
Occasional orbital cysts can occur with possible . excavation of the posterior fundus that incorporates
retinal detachments seen in chorioretinal coloboma)
communication between the cyst and ttle excavation the optic disc)
Microphttlalmia may also be present in cases with
RISK FACTORS coexistent chorioretinal involvement Peripapillary staphylom~ (relative~ no!ma~
Genetics appearing disc located 1n a recess penpap1llary
Can be accompanied by CHARGE association excavation)
(CHD7)
May arise sporadically or be inherited in an
autosomal dominant pattern
488
OPilC - COlOBOMA I
Nucci P, Mets MB, Gabianelli EB. Trisomy 4q with
. TREATMENT ONGOING CARE morning glory disc anomaly. Ophthalmic Paedlatr
Genet 1990;11(2):143-145.
MEDICATION FOLLOW-UP RECOMMENDATIONS Pollac~ S. The Moming glory disc anomaly;
No medical treatment for thl! primary disorder Regular follow-ups to monitor for evidence of retinal contractile mDVI!ment, classification, and
detad1ment embryogenesis. Doc Ophthalmo/1987;65:
ADDITlONAL TREATMENT As needed for ambt,oopia and strabismus monitoring 439--460.
General Measures and treatment
Impact resistant glasses for protection of the Low vision care
nan-involved eye if subnormal visual acuity is . CODES
demonstrated or suspected in the involved eye, or in Patient Mtmltorlng
cases of bilateral involvement. Patient concerns about appearance if significant
strabismus is present ICD9
Issues for Refenal Monlmr for possible development of acquired loss of 377.23 Coloboma of optic disc
Low vision evaIuation and support as indicated in vision from retinal detachment
cases with significant bilateral involvement
Retinal surgery for detachment PATIENT EDUCATION CLINICAL PEARLS
Possible genetic counseling in cases with family
COMPLEMENTARY &. ALTERNATIVE history of the condition Wor~ to maximize visual potential, especially in
ntERAPIES Low vision Intervention In patients with significant bilateraI cases. Difficult to predict eventual best
None pr!M!n or indicated bilateral Involvement conrectl!d visual acuity based on the appearance of
the optic disc.
PROGNOSIS Use of a high plus lens to equalize the image size of
Amblyopia therapy and strabismus surgery as Broad range of best corrected visual acuity
Indicated the I~s through spectacle lenses can help to provide
Relatively high risk of subsequent retinal detachment a more normal appea ranee in patients with
Retinal detad1ment surgery as Indicated
COMPUCATIONS associated microphthalmia.
Retinal detachment Major ophthalmic concerns indude protecting the
better seeing eye, monitoring the involved froJe for
possible treatable ove~ylng amblyopia and
ADDITIONAL READING strabismus. and monitoring for acquired loss of
vision in the involved eye from retinal detachment.
Brodsky MC, Baker RS, Hamed LM. Pediatric Significant associated systemic abnormalities
Neuro-Dphtha/mology. New York: Springer, indude CHARGE association.
1996:53-55.
Brown G, Tasman W. Congenital Anomalies of the
Optic Disc. New York: Grune & Stratton,
1983:128-141.
489
OPnC NERVE CUPPING
Tak Yee Tania Tai
L Jay Katz
~ BASICS
PATHOPHYSIOLOGY The normal optic disc neuroretinal rim is
Pathologic optic nerve head cupping is a characteristically broadest inferiorly, followed by
manifestation of retinal ganglion cell death and loss superior and nasal rims, and narrowest temporally
DESCRIPTION of ganglion cell axons from the optic nerve. (ISNT rule).
Optic nerve cupping can be physiological.
The primary site of glaucomatous optic nerve An analysis of patients from the Ocular Hyperten-
Pathological optic nerve cupping is a manifestation damage is thought to be the lamina siveTreatment Study and the European Glaucoma
of regional ganglion cell death and loss of ganglion cribrosa-deformations ofthe lam ina, kinking of Prevention Study showed that an ocular
cell axons from the optic nerve. nerve fibers, misalignment of laminar pores, hypertensive patient's risk of developing glaucoma
The majority of eyes with pathologic enlargement blockade of axonal transport; however, the increased almost 50% for every D. 1 difference
of the optic cup have glaucoma (1)[81. relationship between these findings and between eyes in cup-to-disc ratio (6)181.
Distinguishing glaucomatous from glaucomatous damage have not been firmly Staging of the optic disc using Armaly's cup-to-disc
nonglaucomatous disc cupping can be difficult-in established (1 )[BI. ratio is commonly used.
a retrospective review of optic nerve head Other contributing factors may act at the level of the
photographs, Trobe et al. reported that pallor of the Spaeth's disc damage likelihood scale directs
gangIion cell body.
neuroretinal rim is 94% specific in predicting attention to the narrowest area on the optic disc
nonglaucomatous cupping while focal or diffuse ETIOLOGY rim (scale 1-10) (7)[81.
obliteration of the neuroretinal rim is 87% specific Elevated lOP DIAGNOSTIC TESTS & INTERPRETATION
in predicting glaucomatous cupping (2)[81. Ischemia/hypoxia
Lab
Trauma Initial lab tests
EPIDEMIOLOGY
Incidence Excitotoxicity and aberrant immunity have also lab tests as indicated for suspected cause of
The incidence of pathological nonglaucomatous been hypothesized to be factors in optic nerve pathologic optic disc cupping.
cupping is unknown. damage (1)[81. Please refer to the Differential Diagnosis" section
COMMONLY ASSOCIATED CONDITIONS of this chapter.
The observed 4-year incidence of open-angle
Please refer to the Differential Diagnosis section Follow-up It special considerations
glaucoma was 1. 2% at ages 40-49 years, 1.5% at
ages 50-59 years, 3.2% at ages 6o-69 years, and of this chapter. Follow-up as indicated for the suspected cause of
4.2% in persons aged 70 years or more according to Please refer to the Commonly Associated pathologic optic disc cupping
the Barbados Incidence Study of Eye Diseases Conditions section of the specific diagnosis Imaging
(1 992-1997) (3)[81. responsible for the pathological optic disc cupping. Initial approadl
Prevalence Optic disc photographs should be obtained to
The prevalence of pathological nonglaucomatous
cupping is unknown.
~ DIAGNOSIS evaluate and follow patients through their course of
treatment.
HISTORY Other optic nerve head imaging devices are also
Approximately 67 million people are affected with currently being used for optic nerve head
Presence, onset. and nature of visual disturbance
glaucoma worldwide, and approximately 2 million assessment in glaucoma:
people in the U.S. have glaucoma (1 in 136 people) Systemic vascular risk factors, such as migraine,
Raynaud's diabetes, and hypertension - Scanning laser polarimetry
(1)[81. - Heidelberg retinal tomography
History of ocular trauma or surgeries
In developed countries, probably only half of those - Optical coherence topography
Family history of glaucoma or other optic
with glaucoma have been diagnosed. Follow-up lr special considerations
neuropathies
RISK FACTORS Follow-up as indicated for the suspected cause of
Neurological disturbances such as headaches,
pathologic optic disc cupping
Larger optic discs tend to have larger physiologic dizziness, and weakness of extremities
If glaucoma is suspected, optic disc imaging should
cup/disc ratio (4)[AI. PHYSICAL EXAM be obtained regularly (e.g., annually, or more often
Please refer to the Differential Diagnosis section Check for an afferent pupillary defect. if a change in optic disc appearance is suspected) to
of this chapter. Slit lamp examination of the anterior segment to document and assess the optic nerve head for
Please refer to the Risk Factors section of the check for signs of secondary glaucoma, such as iris change.
specific diagnosis responsible for the pathological transillumination defects, pseudoexfoliation Diagnostic Procedures/Other
optic disc cupping. material, anterior chamber cell or flare, and signs of Visual fields should be obtained at baseline and at
prior surgery or trauma regular intervals (e.g., annually, or more often if a
Genetics Gonioscopy change is suspected).
There is some dependence of an individual's Direct and indirect stereoscopic slit lamp Diurnal lOP testing may be useful if large lOP
physiologic cup/disc ratio on the cup/disc ratio of the biomicrospy to evaluate the optic nerve head, fluctuations or periods of lOP spike are suspected.
parents-multifactorial inheritance is likely (5)[81. paying particular attention to Consider neuroimaging for:
GENERAL PREVENTION - narrowing of the neuroretinal rim width (relatively
- Loss of central visual acuity or central visual field
For glaucomatous optic disc cupping: lowering narrow rim inferotemporally or superotemporally
-Acute onset or rapidly progressive visual loss
intraocular pressure (lOP) can indicate glaucomatous damage)
- Markedly asymmetric or strictly unilateral optic
-asymmetry in disc cupping (~0.2) neuropathy
- optic disc hemorrhage - Hemianopic visual field loss
- optic nerve color - Neuroretinal rim pallor
- beta zone parapapillary atrophy
- optic nerve edema Pathological Findings
- loss of retinal nerve fiber layer (focal or diffuse) Atrophy of the retinal ganglion cell layer can be
noted.
490
Glaucoma
lilted optic nerve Insertion
Coloboma
IV Fluids
Please refer to the "Inpatient Considerations section
of the spedflc diagnosis responsible for pati1ologlcal
optic disc cupping.
.- ~~~:~::~::: I
of ti1e optic nerve. Arr.h Ophthal 1967;78:35-43.
6. The Ocular Hypenenslon Study Group and t11e
European Glaucoma Prevention Study Group. The
Myopic disc Nursing accu r.~cy and clinical application of predictive
Posterior staphyloma Please refer to the "Inpatient Considerations section models for primary open-angle glaucoma in awlar
of the spedfic diagnosis responsible for pathological hypenensive individuaIs. Ophtha/mo/2008;
Optic pit
optic disc cupping. 115:203Q-2036.
Heredlta ry optic neuropathy
7. Bayer A. Harasymowycz P, Henderer JD, et al.
Antecedent optic nerw infarction Discharp Criteria Validity of a new disk giading scale for estimating
Trauma Please refer to the "Inpatient Considerations section glaucomatous damage: correlation with visual f~eld
Demyelinating optic neuritis of the spedfic diagnosis responsible for pathological damage. Am J Ophtha/mo/2002;133(6):758-763.
Intraorbital and intracranial mass lesions optic disc cupping.
Carotic artery fusiform enlargement
Ischemic optic neuropati1y ONGOING CARE ADDITIONAL READING
Collignon NJ. Abnormal cupping of the optic disc:
FOLLOWUP RECOMMENDATIONS
clln leal screen lng before pelforrnlng a neuralmaglng
. TREATMENT Please refer to ti1e ongoing Care section ofthe
examination. Bull Soc Beige Ophrha/mo/
s~ecific d~agnosis responsible for pathological optic
MEDICATION 2006;300: 21-23.
d1sc wpp1ng.
FimLine
P!ease r~r to the. "Treatment section of the specific
d1ag~os1S responsible for pathological optic disc
htient Monitoring
Please refer to the "Ongoing Care section of the a See Alsa (Tapic, Al1arithm, Electrunic
~ Media El1111n0
s~ectflc d~agnosls responsible far pathological optic
OJpplng.
d1sc wpp1ng. Glaucoma
SecondUne Optic neuritis
Please refer to the "Treatment section of the specific DIET
diagnosis responsible for pathological optic d1sc Please refer to the "Ongoing Care section of the
wpping. specific diagnosis responsible for pathological optic
disc cupping. . CODES
PATIENT EDUCAnON
General Measul'fiS Please refer to the "Ongoing Care section of the ICD9
Please refer to the "Treatment section of the specific 377.14 Glaucomatous atrophy (cupping) of optic disc
s~ecific d~agnosis responsible for pathological optic
diagnosis responsible for pathological optic disc d1sc wpp~ng.
wpplng.
Issues for Refenal PROGNOSIS
Please refer to ti1e ongoing Care section of the
ReferraI to a neuro-ophthalmol agist may be
specific diagnosis responsible for pathological optic
considered if there is su.spidon that the cause of the
disc wpping.
patient's optic neuropathy or visual field defect has a
possible neurological etiology. COMPUCAnONS
Additional Ther.~ples Please refer to t11e ongoing Care section ofthe
P!ease ~r to the. "Treatment" section of the specific s~ecific d~agnosis responsible for pathological optic
d1ag~os1S responsible for pathological optic disc d1sc wpp1ng.
OJpplng.
COMPLEMENTARY a ALTERNATIVE REFERENCES
THERAPIES 1. Greenfield OS. Glaucomatous versus
Please refer to the "Treatment" section of the specific n~nglau~matous optic disc wpping: clinical
diag~osis responsible for pathological optic disc differentiation. Semin Ophtha/mo/1999;1-4(2):
OJpplng. 95-108.
SURGERY/OTHER PROCEDURES 2. Trobe JD, Glaser JS, Cassady J, et al.
Please refer to the Surgery!Other Procedures section Nonglaucomatous excavation of the optic disc.
of the specific diagnosis responsible for pathological Arch Ophlha/mo/1980;98:1046-1050.
optic disc wpping. 3. Wu SY, Nernesure B, Leske MC. Observed versus
IN-PAnENT CONSIDERATIONS indirect estimates of incidence of open-angle
glaucoma. Am JEpldemlo/ 2001 ;1 53(2):184-187.
Initial Stabiliztion
4. Hoffmann EM, Zangwill LM, Crowston JG et al.
of the specific diagnosis responsible for pathological Optic disc size and glaucoma. Surv OtittiJ'aimot
2007; 52(1):3 2-49.
optic disc wpping.
Admasion Crit.wia
of the specific diagnosis responsible for pathological
optic disc wpping.
491
OPnC NERVE GUOMA (OPG]
Matthew D. Kay
Follow-up MRI q 6--12 months initially with
decreased frequency once long-term stability is
DESCRIPTION HISTORY established
Most common infiltrative lesion of the optic nerve Progressive painless visual loss +1- proptosis
(ON). and/or diplopia Diagnostic Procedures/Other
History of NF1 Biopsy of the lesion may occasionally be indicated if
EPIDEMIOLOGY radiographic diagnosis unclear especially in the
Incidence PHYSICAL EXAM absence of NF1
1% of all intracranial tumors Demonstrates features of an optic neuropathy:
3% of orbital tumors Decreased visual acuity, decreased color vision.
Juvenile pilocytic astrocytoma composed of benign
nerve fiber bundle-type visual field defects though
4% of all gliomas astrocytic infiltration occasionally with surrounding
may have temporal defects or homonymous defect if
Occurs in 15% of patients with NFI reactive leptomeningeal hyperplasia
concurrent involvement of the optic chiasm or tract
Represents 65% of intrinsic optic nerve tumors respectively, afferent pupillary defect if unilateral or DIFFERENTIAL DIAGNOSIS
90% recognized by second decade of life asymmetric optic nerve involvement Optic nerve sheath meningioma
Also lrnown as optic pathway glioma (OPG) Optic nerve may be pale or edematous based upon Optic neuritis
RISK FACTORS location of tumor with anterior involvement Sarcoidosis
Neurofibromatosis type I (NFI) in 25-30% of cases producing ON edema while posterior orbital,
of OPG. canalicular. or intracranial lesions demonstrate ON
pallor . TREATMENT
Geneffa May have proptosis, strabismus, or nystagmus
Localized to chromosome 17 if associated with NF1 MEDICATION
May have stigmata of NF1 (e.g., Lisch nodules, cafe
(autosomal dominant} First Line
au lait spots, dellTial neurofibromas)
Observation without treatment unless clear evidence
GENERAL PREVENTION
ALERT of progression with extension into the chiasm,
N/A
Malignant transformation of an OPG essentially only opposite ON, or hypothalamus
PATHOPHYSIOLOGY occurs in patients who have previously undergone -Chemotherapy reserved for patients <6 years old
Progressive growth with infiltration and if they meet the above criteria
radiation therapy for their tumor.
compression of the ON. producing visual loss
- May affect ON anywhere along its course from
globe through optic tract DIAGNOSTIC TESTS & INTERPRETATION
Imaging
ETIOLOGY Initial approach
Neoplastic infiltration of ON MRI brain and orbits with and without contrast
COMMONLY ASSOCIATED CONDITIONS including Tl post-contrast images with fat
NFI present in 25-30% of OPG suppression
- MRl demonstrating characteristic features
generally sufficient to establish diagnosis
- Fusiform or occasionally diffuse enlargement of
the intraorbital optic nerve
- Intense enhancement common
- Kinking of the optic nerve within the orbit
- Pseudo-CSF" signal on T2 images secondary to
perineural arachnoidal gliomatosis in patients
with NF1
491A
DPTlC NERVE GUDMA (OPG) I
ADDITIONAL TREATMENT PROGNOSIS ADDI110NAL READING
General IIAHsUI'eS Generally good when lesion confined to ON (5%
Radiation 111erapy utilized for patients >6 years old monallty) Lee AG. NeuroophthaImolog leal management of
if they demonstrate radiographic progression as 50% mortality if OPG with hypothalamic optic pathway gliomas. Neurosurg Focus 2007;
listed under First Une Treatment above. involvement 23(S):E1.
Sporadic OPG are more aggressive than NF1 o Volpe NJ. Compressive and infiltrative Optic
Issues for Referral Neuropathies, in Miller NR. Newman NJ (eds):
Evaluation for NF1 if no prior diagnosis - Malignant ON gliomas are rare and llmd to oCDJr
only In adults wtth most patients bemm lng w~ and Hoyt's Clinical Neuw-oJi!thalmloogy,
Additional Then~pies mmpletely blind and dying within 1 year 6th ed, 2005:397-4{13.
Treat amblyopia if present regardless of treatment Weber AL, Klufas R. Pless M. Imaging evaluation of
SURGERY/OTHER PROCEDURES the optic nerve and visual pathway. Neuroimaging
COMPUCATlONS Clinics of North America February 1996;6(1 ):
Resection generally reserved for tumors mnfined to Blindness
ON will1 poor or no vision, for gross msmetically 143-177.
Amblyopia
unacceptable proptosis In a blind eye, or for tumors
Late malignant transfurmatlon of tumor aImost
confined to me ON but demonstrate radiographic
exd usively in patients who previously received . CODES
growth which is threatening chiasm
radiation therapy for 0 PG
- Exophytic mmponents can be debulked
o Numerous adverse effects of radiation therapy or ICD9
- Ventriruloperitoneal shunt can be placed for
hydrocephalus If present d1emotherapy if administered 192.0 (Benign neoplasm of aanla I nerve)
225. 1 Benign neoplasm of cranial nerves
237.9 Neoplasm of uncenain behavior of other and
ONGOING CARE unspecified parts of nervous system
FOU.OW-UP RECOM MENDA110NS
Call for visual changes
CLINICAL PEARLS
,atfent Monitoring
Serial clinical examination of ON function including o Characteristic ON tinking" on MRI is almost
formal peri metry (if patient old enough to perform exclusively seen in NFl.
rei iably) every 6-12 months or as dictated by clinical Relatively hlgh Incidence of NF1 In patients with
course OPG.
OCT
PA11ENT EDUCATION
Discuss genetics with family and assodation with
NF1
4918
OPnC NERVE HYPOPLASIA
Louis C. Blumenfeld

There are no known methods of general prevention
except for avoidance of known teratogenic agents
~ DIAGNOSIS
DESCRIPTION such as Dilantin, Quinine, PCP, LSD, and alcohol. HISTORY
Abnormally small optic nerve; often appears pale or Bilateral optic nerve hypoplasia often presents with
gray in color PATHOPHYSIOLOGY poor vision and nystagmus (often develops at
- 80% are bilateral, but may be asymmetric Possible relationship to axon guidance molecules, 1-3 months of age). Unilateral optic nerve hypoplasia
such as Netrin-1 at the optic nerve head. Similar may present later with strabismus.
Most common congenital optic disc anomaly
mechanism may account for other associated CNS
encountered; it was not widely recognized until the PHYSICAL EXAM
abnormalities
late 1960s Careful attention to visual acuity, including
There is also evidence that some cases of optic nerve
EPIDEMIOLOGY hypoplasia may result from axonal degeneration difference in acuity between the two eyes.
lnddence (apoptosis) Range of visual acuity is 20120 to NLP
10.9:1 00,000 (England 2006) (1) Nystagmus
ETIOLOGY
Strabismus
Prevalence Usually unknown
6.3:1 00,000 (Sweden -1997) Small optic discs, may be pale or gray in appearance.
Teratogenic agents listed under risk factors
Superior segmental optic nerve hypoplasia
RISK FACTORS COMMONLY ASSOCIATED CONDITIONS (associated with insulin dependent diabetic mothers)
Maternal use of alcohol, quinine, PCP, LSD, and Septa-optic dysplasia - constellation of optic nerve may be referred to as topless disc syndrome.
Dilantin hypoplasia, absence of the septum pellucidum, and Double ring sign (larger ring representing sclera
Maternal insulin dependent diabetes (associated thinning or agenesis of the corpus callosum canal that surrounds small optic nerve)
with subtype- superior segmental optic hypoplasia Pituitary- endocrine dysfunction Major retinal vessels may be tortuous
!topless disc]) -Clinical hypopituitarism in 15%
Young maternal age -Subclinical endocrinopathy in 72% DIAGNOSTIC TESTS & INTERPRETATION
Primiparity o Growth hormone most common, followed by Lab
Preterm labor thyrotropin, corticotrophin, and antidiuretic Initial lab tl!sts
Low maternal weight gain hormone Endocrine evaluation
45% patients have cerebral anomalies such as error - Fasting morning cortisol and glucose
Gestational vaginal bleeding - TSH, free T4
Most factors occur without known predisposing in hemispheric migration (schizencephaly, cortical
heterotopias) or hemispheric injury (periventricular -IGF-1, IGFBP-3
factors -Prolactin
leukomalacia, encephalomalacia)
Genetics Developmental delay is present in 39% of - In children < 6 months, luteinizing hormone,
Reported cases of affected siblings are rare unilateral optic nerve hypoplasia and 78% of follicle stimulating hormone, and testosterone
Subsequent siblings of children with optic nerve bilateral patients levels should also be checked.
hypoplasia are at little additional risk - Developmental delay is most highly correlated Follow-Up i Special Considerations
- Mutations in HESX 1 have been identified in with corpus callosum hypoplasia and Neonatal jaundice suggests congenital
children with sporadic septa-optic dysplasia and hypothyroidism (2) hypothyroidism
pituitary disease Neonatal seizures suggest congenital
- Homozygous mutations in the HESX1 gene have panhypopituitarism
been found in 2 siblings with optic nerve Irreversible adverse effects of hypothyroidism may
hypoplasia, absence of the corpus callosum, and occur by 15 months of age - Serum TSH levels are
pituitary hypoplasia helpful for early detection
492
IIPllC IBIVE HYPOPLASIA I
Imaging COMPLEMENTARY & ALTERNATIVE REFERENCES
Initial approach THERAPIES
MRl is indicated to evaluate for associated CNS Stem cell transplantation is not proven to affect visual 1. Patel I, McNally RJQ, HarTison E, et al. Geographic
malformations. function in optic nerve hypoplasia distribution of optc nerve hypoplasia and
Follow-up&: special tunsideration5 septo-optic dysplasia in northwest England.
SURGERY/OTHER PROCEDURES JPedlatr 2006; 148(1 ): 5-88.
Posterior pituitary ectopia on MRl is highly associated There is no known useful surgery for optic nerve
with anterior pituitary hormone deficiency. 2. [c]Garti-Filion P, Epport IC. Nelson M, et al,
hypoplasia at this time. Neuroradiographic, endocrinologic, and ophthalmic
Diagnostic l'l'oc.Hures/Other - Surgery may be considered for coexisting correlates of adverse developmental outcomes In
Automated visual field testing may be useful, but strabismus or nystagmus children with optic nerve hypoplasia: A prospective
children are often too young to do this test reliably. study. Pediatrics 21XN1;121:e653-i!659.
Pathological Findings ONGOING CARE
Markedly reduced retinal ganglion cells and nerve
fiber layer FOLLOW-UP RECOMMENDAnONS ADDITIONAL READING
Yeart1 or more frequent examinations for evaluation Borchert M, Garcia-Filion P. The s~drome of optic
and treatment of strabismus. amblyopia, and reflactive ni!M! hypoplasia. CUlT Neuro/ Neurosd Rep 2008;
Optic atrophy erTors
Orular albin ism 8:395-403.
Optic nerve coloboma l'llfient Monitoring
Patients should be monitored for possible coexisting
amblyopia. This may oCil.!r as a result of the opti~ . CODES
. TREATMENT nerve hypoplasia Itself or assodated refractive errors
or strabismus. ICD9
MEDICATION 377A3 Optic nerve hypoplasia
PATlENT EDUCATION
No known medical therapy available.
Importance of treating any associated conditions. such
ADDITIONAL TREATMENT as amblyopia and the need for low vision assessmern
GefHH'al Measul'fls and aids should be discussed. CLINICAL PEARLS
Eyeglasses for protection of the better-seeing eje PROGNOSIS Visual aruity does not correlate well to the size of
when asymmetry is pnesent Visual acuity generally remains stable over time. There the optic disc.
- Collection of refractive erTOrs is some tendency for mild visual improvement with -Acuity correlates primarily with integrity of the
- Treatment of possible concurrent amblyopia maturity. papillomacular nerve fibers.
- SUrgery for concurrent strablsm us or nystagmus There may be some improvement in visual acuity
may be considered COMPLICAnONS with patching the fellow eye In asymmetrlc cases
Generally related to associated endocrinopathies and due to corn ponent of amblyopia.
Issues for Refetral other CNS malformations
Pedlatrlc ophthalmology referral to treat any
under~ing amblyopia and possible surgery for
strabismus/nystagmus
Pedlatrlc neurology referral Hevidence of coexisting
CNS abnoiTRalities
Pediatric endocrinology referral to evaIuate frequent
col!ldstlng endoc~nopathles
493
OPnC NEURITIS
Tulay Kansu
~ BASICS Genetics
No known genetic features of typical ON
Lab
PATHOPHYSIOLOGY Initial lab tests
DESCRIPTION The yield from diagnostic tests is extremely low in a
Optic neuritis (ON) is the inflammation of the optic An inflammatory process that leads to activation of
peripheral T lymphocytes and cause a delayed type of typical case.
nerve. Ancillary investigations should be done for an
hypersensitivity reaction resulting in demyelination
Vision loss is rapid and may be progressive in the alternative diagnosis. if there are atypical features.
and axonal loss. The recovery can occur with
first 2-15 days.
remyelination. Follow-up & special considerations
It typically occurs in 1eye at a time (70%), bilateral
ETIOLOGY Appropriate test according to the symptom
occurrence is 30%.
Optic nerve inflammation and edema at the optic Autoimmune Imaging
nerve head is termed papillitis. Initial approach
If nerve damage is behind the eyeball, it is called Brain MRI with contrast
Acute demyelinating ON is the initial presentation in
retrobulbar neuritis. approximately 20% of cases of MS. Look for hyperintense white matter lesions in
T2-weighted images and enhancement of the optic
Pediatric Considerations nerve.
Optic disc swelling and bilateral disease are more
common in children.
~ DIAGNOSIS Characteristic demyelinating lesions in patients at
risk. for MSare 3 mm or larger in diameter, ovoid in
Loss of visual acuity is more severe. The diagnosis of ON is usually made on clinical shape, and located in periventricular areas
Recovery of visual acuity is 20/40 or better in 76% grounds. Follow-up & special considerations
of patients. HISTORY Repeat brain MRI in 3--6 months for new lesions
Subsequent risk of multiple sclerosis (MS) varies Sudden onset blurred vision, progressive over a few Spinal MRI for the presence of demyelinating lesions
among studies. days to 2 weeks Diagnostic Procedures/Other
Pregnancy Considerations Pain with eye movement Visual evob!d potentials (VEP)
Management is the same as in the nonpregnant Exacerbation of symptoms with increased body Contrast sensitivity
patient. temperature (Uhthoff phenomenon) Optical coherence tomography (Den
Spontaneous improvement starting within Lumbar puncture (LP) for oligoclonal band, lgG
EPIDEMIOLOGY 2-3 weeks
Acute demyelinating ON is the most common cause Neuromyelitis optica (NMO) (aquaporin 4)
of unilateral painful visual loss in a young adult. PHYSICAL EXAM antibodies in bilateral or recurrent cases
Tends to afflict young adults with an average age in Impaired vision Pathological Findings
their 30s. Impaired color vision The main pathology is the demyelination and axonal
75% of patients are women. Impaired contrast sensitivity injury of the optic nerve fibers. Remyelination occurs
Visual field defect mostly central scotoma, or any during the recovery phase.
lnddence
type DIFFERENTIAL DIAGNOSIS
The annual incidence is 5 per 100,000.
Optic disc normal (65%) or swollen (35%), pale Other inflammatorylvasculitic optic neuropathies
The incidence is highest in northern countries at
within 4-6 weeks (sarcoidosis. systemic lupus erythematosus.
higher latitudes.
Venous sheathing Sjogren's syndrome, Beh9!t's syndrome,
Prevalence Relative afferent pupillary defect (RAPD) autoimmune optic neuropathy, chronic relapsing
The prevalence is 115 per 100,000.
Pulfrich phenomenon: The course of a pendulum is inflammatory optic neuropathy)
RISK FACTORS perceived as an elliptical movement. NMO, also known as Devic's disease should be
People who are younger than 15 years will acquire considered if the ON is bilateral, associated with
the risk of the country to which they migrate. myelitis and/or there is no visual improvement.
69% of females and 33% of males may develop MS Infectious ON (tuberculosis, syphilis, Lyme disease,
approximately 15 years after the initial attack. viral disease)
Postinfections, postvaccination, neuroretinitis
Ischemic ON (arteritic, nonarteritic)
Compressive ON (pituitary tumors, glioma,
meningioma, craniopharyngioma, aneurysm)
Toxic (methanol)
Hereditary (Leber's hereditary ON)
Retinal diseases (central serous retinopathy, big
blind spot syndrome)
Functional visual loss
494
OPIIC NBIRITIS I
REFERENCES
1. Vedu Ia SS, Brodney-Folse S, Gal RL. Beck R.
MEDICATION FOLLOW-UP RECOMMENDATIONS Corticosteroids for treating optic neuritis. Cochrane
RrstLine Follow-up at 1 week, 1 month, 3 months. and then Database Syst Rev 2007;(1):(0001430.
Corticosteroids are considered for patients with every 6 months for the first 2 years in an 2. Beck RW, Chandler DL. Cole SR. et al. Interferon
severe visual loss (> 20/40) to hasten recovery, but asymptomatic patient beta-1 a for early multiple sderosls: CHAMPS trial
they do not affect the ultimate visual outcome. PATIENT EDUCATION subgroup analyses. Ann NMDI 2002; 51 :481--490.
1 g IV methylprednisolone (MP) per day given for Patient should be Informed about the disease and the 3. Optic Neuritis Study Group. Visual Function 15
3 days. An oral taper is not necessary (1). possibility of developing MS. years ilfter optic neuritis: a final follow-up report
Giving oral prednisone alone is contra indica1ed from the Optic Neuritis Treatment Trial.
PROGNOSIS OJilthalmology 2008;115: 1079--1082.
because of the risk. of Increasing new attaclcs. Recovery occurs spontaneously within 2-3 weeks in
Second Line 80%, stabilizing over months to a year.
Treatment with immunomcdulators Onterferon beta 93% had a visual acuity better than 20/40, and ADDITIONAL READING
1a, interleron beta 1b, glatiramer acetate) should be 69% had 20/20 vision 1 year following the initial
considered for patients with ON whose brain lesions attack (Optic Neuritis Treatment Trial [ONTTD Abou Zeld N, Bhatti MT. Acute lnflammatory
oo MRIIndlcate a high ~sk. of developing clinically demyelinating optic neuritis: evidence-based visual
o The severity of initial visual loss is the only predictor
definite MS (2). and neurological considerations. Neurologist
of the final visual outcome. 2008;14:207-123.
The1111pies should be individualized and the patient o Tempora I disc pa IIor develops within 4-6 weeks
involved in the dedsion-making process.. Balcer L Clinical practice. Optic neuritis. N Eng1
from the onset and RAPD may disappear when
visual recovery is full.
MetJ 2006;354: 1273-1280
ADDITIONAL lllEATMENT Shams PN, Plant GT. Optic neuritis: a revlew./nr MS
o Anterior optic neuropathy has better prognosis than
GeiHNill MNSures J 2009;16:82-89.
Review within 1 month Is recommended to ensure posterior twe-
that vision does not deteriorate after cessation of the 28% and 35% of patients have recurrence of ON
treatment. within 5 and 10 years, respectively.
The risk of development of MS after an isolated
. CODES
Pediatric Considetations unilateral 0N is 38% at 10 years and SO% at
Treatment with IV MPIs recommended If visual loss 15years. ICD9
Is severe or bllateraI. 377.30 Optic neuritis, unspedf!ed
75% of female patients and 35% of male patients
Interferon therapy is considered with abnormaI MRl may ultimately develop MS. 377.31 Optic papillitis
of the blain. o Treatment does not alter the final visual outcome (3).
377.32 RetrobuIbar neu ~tis (acute)
Issues for Refet'I'8I o The risk of developing M5 is 15% if baseline MRI is
Neurology consultation for MS evaluation normal, and 75% if MRI has one or more MS
plaques.
CLINICAL PEARLS
COMPUCATIONS The presence of white matter lesions on the initial
Initial Stabilization MRI of the brain is the strongest predictor for the
IV MPis given as an outpatient. Less than 10% of patients may have permanent
visual awity less than 20/40. development of MS.
Admission Ctitwia o Treatment with IV MP has mainly minor side effects The 15-year risk of developing MS is 25% with no
Admlsslools not necessary for 1yplcal ON. Atypical sudl as transient flush ing. a brief disturbance of lesions, 75% with one or more lesions (ONTl).
cases can be admitted for work up. taste, Insomnia, and mild weight galn. Treatment with high-dose IV cortiCDSterolds may
IV Fluids An anaphylactoid reaction after IV MP treatment accelerate visual recovery but has little impact on
MP 1 g is given in 500 ml NaCI with slow IV infusion has been described in rare cases. long-term visual outcome.
>2 hours. Giving oral prednisone alone is contraindicated
because of the risk of increasing new attacks.
Disease-modifying drugs should be considered In
patients at high risk of developing MS.
495
ORBITAL CELWUnS
Scott M. Goldstein
~ BASICS Common bacteria include coagulase-negative

Staphylococcus species, Streptococcus species, and
Staph;fococcus aureus, both Methicillinsusoeptible
Imaging
Initial approadl
CT scan of the orbits
DESCRIPTION Staphylococcus Au reus (MSSA) and Methicillin- Follow-up ll special considerations
Orbital cellulitis is an acute infection of the soft tissue resistant Staphylococcus Aureus (MRSA). In Repeat imaging studies are frowned upon as dinical
contained witllin the orbital space. It typically arises addition, pseudomonas species, Moraxella findings and radiologic findings do not progress and
from adjacent sinusitis but can also occur from catarr1lalis, Eikenella corrodens, and various regress at the same pace. Rather, the radiologic
spreading of a superficial skin infection or anaerobes can be the culprit. findings fade much more slowly and may still show
dacryocystitis, penetrating trauma, extension of In immunocompromised patients and uncontrolled inflammation or edema even though tile patient is
endophthalmitis, or endogenous bacteremia. diabetes, do not overlook tile possibility of a fungal improving.
EPIDEMIOLOGY infection, such as mucormycosis. MRl/magnetic resonance venography (M RV) can be
Incidence COMMONLY ASSOCIATED CONDITIONS obtained if cavernous sinus thrombosis is a concern.
Orbital cellulitis has an approximate incidence of 3 to Bacterial sinusitis, fungal sinusitis, pre-septal cellulitis Diagnostic Procedures/Other
6/1.000.000. It has a higher incidence in blacks tllan of eyelid, dacryocystitis, orbital trauma CT scan is the gold standard.
in whites or (1) Hispanics and is slight more common
in men than in women. Finally, it is more common in
children tllan in teenagers and adults. ~ DIAGNOSIS Preseptal cellulitis
Orbital inflammatory syndrome
RISK FACTORS HISTORY Dacryoadenitis
Sinusitis Patient presents acutely with increasing edema.
Metastatic tumor
Periocular trauma erythema. and pain around tile eye tllat has occurred
over several hours to several days. Many will have a Herpes zoster ophthalmicus
PATHOPHYSIOLOGY
Upwards of 80% of orbital cellulitis infections are
the result of a sinus infection spreading into the
orbit, typically from ethmoid sinusitis. This is due to
history of underlying sinus disease, an acute respiratory
tract infection, skin infection, or recent trauma. They
progress to develop decreased motility with double
vision (if the eyelids are not swollen shut).
rJ TREATMENT
MEDICATION
the thin bone separating the two spaces and the
valveless veins that drain from the sinus through the PHYSICAL EXAM First Line
orbit en route to the cavernous sinus. Erythema and edema of Iids and orbit Broad-spectrum IV antibiotics that cover gram positive,
Fungal infections such as mucormycosis and Proptosis gram negative, and anaerobes, especially in patients
aspergillosis can cause these infections but are Decreased vision older than 14 years. These include fortified penicillins,
much less common. Conjunctival injection and chemosis tllird-generation oephalosporins, fluoroquinolones, or
a combination of these medications. Intravenous
ETIOLOGY Limitation in ocular motility
antibiotic choices would include ampicillin sulbactam,
The ethmoid, maxillary, and frontal sinuses surround Sluggish pupil with possible afferent pupil defect oeftriaxone, aminoglycosides. vancomycin,
the orbit. Thus infection in these spaces can Elevated intraocular pressure dindamycin, and fluoroquinolones.
potentially spread in to the orbit. The sinus is DIAGNOSTIC TESTS & INTERPRETATION
typically a sterile space but with upper respiratory Second Line
infections, the sinus drainage can be compromised Lab Steroid therapy is controversial but can be a helpful
leading to congestion and infection. In children CBC with white count adjunct to the antibiotics in reducing swelling and
younger than 9 years. these infections are typically Culture of any discharge congestion in both tile orbit and sinus.
monomicrobial aerobic infections, which respond Blood cultures may be helpful.
well to antibiotics alone. By the time patients reach
their mid teenage years, and beyond, the infection is
more typically a polymicrobial aerobe/anaerobe
infection requiring more intense antibiotic therapy
and more often surgery.
496
oRBrrAL cEwmls I
General IIAHsUI'eS ONGOING CARE . CODES
Typically admit these patients to the hospital for IV
antibiotics, close observation, and possibly surgel'f. FOLLOW-UP RECOMMENDATIONS ICD9
Regular examination of the I!YI! 1-4 times per day Patients should receive approximately two full weeks 375.30 Daayocystitis, unspedfied
depending on the severity to ensure that the vision is of antibiotic therapy total. Thus they should be
disd\arged home on oral antibiotics or with a
376.01 Orbital cellulitis
not being compromised. 473.9 Unspedfll!d sinusitis (chronic)
peripherally inserted central catheter (PIC:C) line for
Issues for Refem~l cootlnued IV antibiotics when Indicated.
The nonophthalmologist can manage this in an
inpatient setting, but an ophthalmologist should be Patient NIDIIIfDrlng CLINICAL PEARLS
involved to monitor the status of the orbit and vision. Outpatient follow-up within a week of discharge to
If sinusitis is the underlying sourc:e of infection, ENT ensure that the infection is resolving and the vision It is important to consider MRSA as a cause of
surgeons should also be Involved. Is stable. infection v.flen choosing appropriate antibiotic
If there was an assodated sinusitis, follow-up with therapy.
SURGERY/OTHER PROCEDURES an ENT surgeon is recommended as well. cr scan of the orbit and sinus Is a vel'f helpful tool
The primary sourc:e of the infection must be treated. when determining the best course of treatment
Since 6D-80% of orbital cellulitis cases arise from DIET
Typically not a concern. Howevet patients with Antibiotics are most effective as single therapy in
sinus disease, sinus surgel'f should be induded with young children, whereas antibiotics and surgery are
any plan to surgically treat the orbit diabetes should have their glucose control optimized
as hyperglycemIa promotes Infection. more often needed in teenagers and adults.
An orbitotomy should be coosidered if there is a MRSA Infections of the orbit require aggressive
frank abscess in the orbit, visual compromise exists. PROGNOSIS management with approprlate antibiotics and early
there is an atypical infection, or the patient is not Excellent, with today's imaging capabilities, surgery when indicated.
responding to intravenous antibiotic therapy after antibiotics, and team approach to managing these Atypical infections, such as orbital cellulitis not
sever.~l days. patients. arising from the sinus or infections that potentially
IN-PATIENT CONSIDERATIONS COMPUtATIONS may spread to adjacent areas (such as fronta I
Initial Stabilization Blindness. cavernous sinus thrombosis, eyelid necrosis. sinusitis with orbital Involvement and possible
Start IV antibiotic therapy as soon as possible but be meningitis, brain abscess, sepsis, death intraaaniaI spread) should be treated surgically in a
aware it t)pically ta Ires 24-48 hours for the patient to more urgent matter.
stabilize. espeda lly if they are older than 14 years with
a polymicrobial infection. REFERENCE
Admission Critw'hJ 1. Rabinowitz MP, Goldstein SM. PeriarlJita/ a!llulitis
Confl rmation of orbital cellulitis as a diagnosis should in the eady 2I st ctntury. Essentials of
almost always be treated as an inpatient. Patient ophthaJmoJogy-oruloplartics & arlJit. New York.
needs to be observed closely for evidence of NY: Springer Verlag, 2009.
significant visual compromise and posterior
Intracranial spread of the Infection.
Nursing
Check vision and pupiIs at least once a shift warm
compresses can help with the infection.
Disdlarge Criteria
Signlflcant lmprovement of Infection with no further
ac111e threat to the vision.
497
ORBITAL HEMORRHAGE
Edward H. Bedrossian, Jr.
~ BASICS Subsequent increases in orbital pressure can produce

visual loss by direct optic nerve compression, or
more likely, by ischemic optic neuropathy from
Lab
Initial lab tests
DESCRIPTION compression of the central retinal artery, posterior CBC & differential
An orbital hemorrhage is a hemorrhage within the ciliary vessels, and fine pial perforating vessels PT. PTT. platelets
orbital cavity, bound anteriorly by the orbital septum supplying the retina, choroid, and optic nerve.
and canthal tendons. Follow-up It special considerations
ETIOLOGY Hematology/oncology evaluation if blood dyscrasia
EPIDEMIOLOGY Blunt and penetrating orbital trauma Imaging
Incidence Eyelid, orbital, sinus, and lacrimal surgery Initial approadl
Orbital fractures (0.45-<l.6%) Idiopathic (rare) Orbital CT scan (axial and coronal views)
Retrobulbar injections (0.005--0.44%) If vision is threatened. CT scan should be delayed
Facial fracture repair (0.24...{).3%) until initial treatment has been instituted (see
Spontaneous orbital hemorrhage has occurred with
Postblepharoplasty (0.005%) below).
Orbital lymphangiomas
Endoscopic sinus surgery (0.43%)
Cavernous hemangiomas Diagnostic Procedures/Other
RISK FACTORS Ophthalmic artery aneurysms In spontaneous orbital hemorrhage, consider MRl
Blunt head/orbital trauma Hemophilia (using head coils) if suspect vascular malformation
Penetrating orbital foreign bodies or mass.
Leukemia
Postseptal eyelid surgery - Biopsy of mass if present with spontaneous orbital
Vitamin K deficiency hemorrhage
Orbital/sinus surgery Anemia
Hypertension Hypertension Pathological Findings
Anticoagulant medications (aspirin, NSAIDs, If spontaneous orbital hemorrhage, biopsy of mass
Von Willebrand's disease
warfarin ICoumadinll may show vascular anomaly including
~ DIAGNOSIS
Postoperative Valsalva maneuver (vomit, cough, Orbital lymphangiomas
sneeze) Cavernous hemangiomas
Coagulopathy HISTORY DIFFERENTIAL DIAGNOSIS
Blood dyscrasia (thrombocytopenia, leukemia) Recent trauma to the eye, orbit Orbital cellulitis
Cirrhosis Recent eyelid, lacrimal, orbital, or sinus surgery Orbital fractures (floor, medial wall, tripod)
GENERAL PREVENTION Sudden ocular and orbital pain Ruptured globe
Preoperative assessment of risk factors Diplopia Subperiosteal hemorrhage
Meticulous intraoperative hemostasis Nausea/vomiting Optic nerve sheath hemorrhage
Postoperative patient education and surveillance PHYSICAL EXAM
PATHOPHYSIOLOGY Complete ophthalmic exam checking for
An orbital hemorrhage acts like an expanding space Decreased visual acuity
occupying orbital lesion confined by the bony orbital Afferent papillary defect
walls and orbital septum. Limited extraocular motility
As the intraorbital pressure increases, the eye and Loss of color vision
orbital contents bulge anteriorly to the limit of the Eyelid ecchymosis
orbital septum and canthal tendons (7--8 mm).
Progressive proptosis with resistance to retropulsion
Beyond that, the optic nerve is maximally stretched,
limiting further anterior displacement of the globe. Chemosis
Diffuse subconjunctival hemorrhage
Elevated intraocular pressure (lOP)
Optic disc and retinal pallor
Central artery pulsations
Choroidal folds
498
ORBITAL HEMORRHAGE I
IN-PATIENT CONSIDERATIONS PROGNOSIS
. TREATMENT Initial Stabiliztion Poor, If visual loss Is beyond 100 minutes of acute
Airway, respiration, and circulation (ABCs). in acute bleed
MEDICATION trauma Fait if above treatment is instituted within 100
H~erasmotlc agent (mannItoI 20% 1-2 g/kg IV minutes af acute bleed
Admission Cl'it.eria
over 45 minutes)
Progressive visual lass mMPUCA.TIONS
-Acetazolamide 500 mg IV
For IV pulse therapy with corticosteroids Loss of vision
- Metnylprednlsolone 100 mg IV for
neuroprotection IVRuids
-Topical beta-blodcer [limolol 1{l% q30min x 2) Methylprednisolone 250 mg q6h for 12 doses ADDITIONAL READING
ADDITIONAL TllEATMENT Nursing
Frequent vision chedcs Lelli GJ, Lisman RD. Blepharoplasty complications.
General Measures Plest Rf'CC!rutrSurg 2010;125(3):1007-1017.
If vision is threatened, then a lateral canthDIDmy and Discharge Criteria
cantl1 olysls of the Inferior and supe~or lateral cantnal Lewis CD, Perry JD. Retrobulbar hemormage:
Stable vision epidemiology/incidence. Expert Rev Op/Jt!Jalmo/
tendons should be done at lhe sa me time that medical 2007;2(04):557-570.
therapy is being instituted and before tne patient is
sent for the CT scan. ONGOING CARE Sullivan TJ, Wright JE. Non-traumatic orbital
hemorrhage. Clln Expeffmerrt Op/JtJJalmol
Issues far Referral FOLLOW-UP RECOMMENDATIONS 2000;28(1):26-31.
Hema!Diogy/oncology, if blood dyscrasia. if See patient education Tan JC, Chan EW, Looi A. Bilateral orbital
spontaneous retrobulbar hemoohage Hema!Diogy/oncology consultation. If spontaneous subperiosteal hemorrhage following labor. Opht!Jal
- ENT. If postoperative sinus surgery orbital hemorrhage Plastic Reconstt Surg 2011 ;27(3):e59-e6l
Additional Therapies l'afiwtt Monitoring
Treat underlying blood dysc~aSia, if spontaneous Rlr pos!Dperative visual acuities, lOP. motility, pupils.
orbital hemorrhage color vision. and external evaluation for proptosis t(t coDES
Orbital exploration to lind and ligate bleeder, if
DIET
patient is pos!Dperalive orbital, sinus, lacrimal. or ICD9
Preoperative and postoperative diet: low in garlic
eyeIid surgery ginger. ginseng, ginkgo, high in antioxidants 376.32 Orbital hemorrhage
DICiin subperiosteal hemormage. if present. 377.42 Optic nerve sheath hemormage
PATIENT EDUCATION 871 .0 Ocular laceration without prolapse af
SURGERY/OTHER PROCEDURES Preoperatively, patients should discontinue vitamin
Optic nerve shealh decompression ~ optic nerve intraocular tissue
E, anticoagulants. antiplatelet agents, and herbal
shealh hemorrhage supplements. If medically stable (prelntemlst).
Two wall (floor and medial wall) decompressions if compresses
tne above measures fail. - Pos!Dperatively, patients should apply ice. Avoid
CLINICAL PEARLS
Valsalva maneuvers (bending, lifting, coughing. Most orbitaI hemorrhages are from trauma or are
sneezing, nose blowing, straining at stool). postoperative lid, orbit, sin us. or lacrimal surgery.
- Seek medical attenticn stat, if sudden loss of Prevention depends on canefuI preoperative,
vision, explosive exophtnalmos, or severe orbital intraoperative, and pos!Dperative management.
pain. Emergent surgical interverrtion (lateral
canthotomyfcantnolysls and wound exploration If
necessary) are the definitive treatment.
499
ORBITAL RHABDOMYOSARCOMA
Sara Lally
Carol Shields
Follow-up Ill special considerations
Patients with RMS need to be followed by a
pediatric oncologist as well as an ocular oncologist
DESCRIPTION HISTORY or ophthalmologist familiar with the disease.
Rhabdomyosarcoma (RM S) is a highly malignant Based on a large review of orbital RMS by Shields
et al., the history reveals: Diagnostic Procedures/Other
neoplasm that arises from pluripotential cells that
Orbitotomy with intent to remove the malignancy
demonstrate histopathologic features of striated Mean age at presentation of 10 years
completely intake within its pseudocapsule
muscle. Acute and subacute painless proptosis in 30%
If the tumor is diffuse, enwrapping vital visual
This rumor can arise in soft tissues throughout the Eyelid swelling in 21% structures, then debulking of the tumor without
body. Conjunctival injection in 9% and edema ofthe damaging surrounding structures is advised.
RMS is the most common primary malignant orbital eyelids in 21%
tumor of childhood. Pathological Findings
Symptoms present for a mean of 5 weelcs
Small round blue cells with cross-striations within
ALERT Downward and outward displacement of the globe the cytoplasm representing 4 histological types:
Optional. None. Pain and decreased vision are uncommon. - Pleomorphic--i"arely involves the orbit
History of trauma - Embryonal-most common in the orbit
Geriatric Considerations PHYSICAL EXAM -Alveolar-poorer prognosis
Optional field. None. Based on a comprehensive review of orbital RMS by - Botryoid---1>ften involves anterior portion of orbit.
Pediatric Considerations Shields et al., the findings include the following: which appears as grape-like lesion beneath the
Optional field. Rhabdomyosarcoma is more common conjunctiva
Orbital mass in 76%
in the pediatric age group. Conjunctival mass in 12% DIFFERENTIAL DIAGNOSIS
Pregnancy Considerations Proptosis in 79% Neuroblastoma
Optional field. Illicit drug use during pregnancy has Chemosis in 41% lymphangioma
been associated with an increased risk of Eyelid edema in 21% Hemangioma
rhabdomyosarcoma. Can mimic inflammation Dermoid cyst
Inflammatory conditions
EPIDEMIOLOGY DIAGNOSTIC TESTS & INTERPRETATION -Cellulitis
lnddence Lab - Nonspecific inflammatory diseases
rJ
4.3 cases per 1 million children for all cases of RMS Initial lab tests
5:3 male to female ratio for RMS of the orbit CBC count with differential to rule out leukemia,
No racial predilection infection, and other simulating conditions TREATMENT
Prevalence Follow-up Ill special considerations
Complete systemic workup to evaluate for MEDICATION
350 new cases of systemic RMS per year First Line
Estimated 25-50 new cases of orbital RMS per year metastatic disease
Chest radiograph to rule out lung metastasis, the Chemotherapy is delivered by a pediatric oncologist.
RISK FACTORS most common site for RMS metastasis According to the Intergroup Rhabdomyosarcoma
Maternal use of marijuana during pregnancy has Study Group, the chemotherapy agents include
been found to cause 3-fold increased risk. Imaging vincristine, actinomycin-D. dactinomycin,
Initial approach cyclophosphomide, ifosfamide, and etoposide.
Maternal use of cocaine during pregnancy is
associated with 5-fold increased risk. MRI of orbits
Second Line
CT of orbits
Paternal use of marijuana, cocaine, or any Phase 1/11 trials include the use of chemotherapy
- Round, oval, or irregular mass
recreational drug is associated with 2-fold increased agents such as doxorubicin (Adriamycin), melphalan,
-Well-circumscribed or diffuse
risk. methotrexate, topotecan/irinotecan, taxol/docetaxel
- Enhances with contrast
Genetics (Taxotere). These drugs are used alone or in
- May have cavities within it
Sporadic combination with first-line agents.
- Usually in soft tissue
RMS has been associated with neurofibromatosis - Most common site is superonasal in the
(NF) and li-Fraumeni syndrome (LFS) extraconal space
GENERAL PREVENTION
None
PATHOPHYSIOLOGY
In those cases with NFand LFS the p53 tumor
suppressor gene has been identified.
ETIOLOGY
Unknown
None
500
ORBITAL IUIABIIOMYOSJIICOMA I
ADDITIONAL TREATMENT IV Fluids 3. Hayes-Jordan A. Andrassy R. Rhabdomyosarcoma
General IIAHsUI'eS May be necessary for inpatient hydration In children. Cu" Olin Pedlatr. 2009;21 (3):
Referto pedlat~c oncologist Nursing 373-378.
Staging--most orbital disease are group II or g1'0\JP Per floor routine for chemotherapy patients 4. Shields JA. Shields CL. Rhabdomyosarcoma: Review
Ill. for ophtl1almologist. Surv Ophthalma/. 2003;
- GI'OI.Ip 1-tumor completely resecll!d
Discharge Criteria 48(t ):39-57.
Once medically stable
-Group ll-micrD5COpit residual 5. Karcioglu 'ZA, Hadjistilianou D, Rozans M, et al.
- GI'OI.Ip Ill-gross residual Orbital rhabdomyosarcoma. Can~r Control.
- GI'OI.Ip IV--flletastasls ONGOING CARE 2004;11 (5):328-333.
According to Intergroup Rhabdomyosarcoma Study
Group IV recommendiltions FOLLOW-UP RECOMMENDATIONS
- Group I istreall!d with chemotherapy for Every 2-3 months for the first year then every 6 ADDITIONAL READING
32 weeks. months
Shields JA. Shields CL. Eyelid, conjunctival, and
- GI'OI.Ip Ills treated wltl1 chemotherapy for - Repeat imaging every 6 months.
otbiW tumotS. An atlas and textbook, 2nd ed.
32 weeks and oibitalr.~diotherapy (4,140 cGy). Patient Monitoring Philadelphia: Lippincott Williams & Wilkins, 2008.
- Group Ill is treated with dlemotherapy for Watch for radiation side effects to ~ and in field of
52 weeks and oibitalradiotherapy (5,040 cGy). treatment
Issues for Refeml Based on a comprehensive review of oibital RM Sby
Q See Also <Taplc, Algol1thm, Eleelronlc
Any suspldous orbital lesion In a young pat!ent should Shields et al., the findings indude the following: fr:3 Media El1111ntl
raise suspldon and prompt referral to an ocular - Cataract in 55% www.iighteyet:ancer.com
oncologist. - Oibital hypoplasia in 24% www.malignantrnelanomainfo.com
Additional Thetaples - Dry eye in 36% www.retinoblastomainfo.com
See next item - Chronic keratoconjunctivitis In 9%
- Retinopathy in 9% www.eyecancerinfo.com
COMPLEMENTARY & ALTERNATIVE - Rl!tllrrence can occur years after treatment. www.eyecancerbook.com
THERAPIES - lall! side fflects of chemotherapy such as www.etrf.org
Adjuvant dlemotherapy leukemia
0ibitaI radiotherapy DIET
- Miaoscopic residual--4,000-4,500 cGy No dietary restrictions . CODES
-Gross residual-s,ooo-s,soo cGy
PATIENT EDUCATION ICD9
SURGERY/OTHER PROCEDURES See Additional Readings.
As indicall!d above, orbitotomy with excisional biopsy 190.1 Malignant neoplasm of orbit
complete remowl if possible is the first goal of PROGNOSIS
therapy. Then further dlemotherapy and radiotherapy Historically there was about 30% survtva ~ but wtth CLINICAL PEARLS
depend on the staging. adjuvant r.~diationfchemotl1er.~py there is a 95%
sunrival rate. Presentation can mimic inflammation.
IN-PATIENT CONSIDERATIONS - Favorable prognosis in oibit because of ea~
Initial Stabilization Remove lesion completely if possible.
presentation and lack of lymphatic drainage Adjuvant chemotherapy and radiation has improved
lnpiltient hospitalization might be necessary for
dlemotherapy. COMPUCATIONS survival to 95%.
Side effects of radiationldlemotherapy
Admission Crit.eria
Inpatient hospitalization might be necessary for
dlemotherapy. REFERENCES
1. Shlelch CL. Shields JA, Honawr SG, et al. The
clinical spectrum of primary ophtl1almic
rhabdomyosarmma. O~thalmology 200t ;108:
2284-2292.
2. Shielch JA, Shields Cl, Seartozzi R. Survey of 1264
patients with orbItaI tumors and simulating lesions:
The 2002 Montgomery lecture, part 1.
O~tha/mology 2004;111(5):997-1008.
501
ORBITAL TUMORS: CONGENITAL
Linda H. Ohsie
Orbital dermoid/epidermoid cysts (1 )[C[, (4)[C[
- Smooth, cystic structure usually white, tan, or
DESCRIPTION HISTORY yellow in color
Congenital orbital tumors are typically found at birth Orbital dermoid/epidermoid cysts (1)[C] - Cysts typically lined by keratinizing, stratified
or in early childhood. - Generally asymptomatic unless they increase in squamous epithelium
The most common congenital orbital rumors are size or rupture (spontaneously or wiltl trauma) - Hair shafts, sebaceous glands, sweat glands, and
dermoid or epidermoid cysts and teratomas. resulting in an inflammatory reaction and pain inflammatory cells may also be found in dermoid
- Orbital dermoid/epidermoid cysts are benign - Rarely cause proptosis or displacement of the specimens
choristomas typically found at the junction of bony globe -Histologically, epidermoid cysts have no dermal
sutures (most commonly the frontozygomatic -Growth of these lesions is typically slow appendages (2)[CJ
suture). Orbital teratomas (3)[C] Orbital Teratomas (3)[C[, (4)[C]
-Orbital teratomas are benign germ cell tumors - Rapidly growing proptosis noted at birth or early - Fleshy pinlc mass on gross inspection - may have
that are a rare cause of proptosis at birth. infancy solid and cystic components
-Typically unilateral -Histologically contains structures representing all
EPIDEMIOLOGY
PHYSICAL EXAM 3 embryonic germ layers: Ectoderm, mesoderm,
Incidence and endoderm
Orbital dermoid/epidermoid cysts (1)[C], (2)[C] Orbital dermoid/epidermoid Cysts (1 )[C[, (2)[C]
- Frequently presents as painless, subcutaneous - May be partially calcified or ossified
- Incidence- Most common space-occupying
orbital lesion of childhood. May comprise mass DIFFERENTIAL DIAGNOSIS
30-46% of excised orbital rumors in children. -Typically located in the superotemparal orbital If proptosis is present in an infant or child, these
-Age at diagnosis is most commonly in infants and region (frontozygomatic sutiJre), less frequently ather processes should also be considered.
young children, but may be diagnosed at any age superonasally Capillary hemangiomas also commonly present as
- Sex- No predilection - On palpation are not fixed to overlying skin - they orbital masses manifesting at birth within the first
are partially mobile, smooth, and not tender to year of life (2)[C], (4)[CI
Teratomas- most commonly found in gonadal
tissue, rarely involves the orbit (3)[C] touch - Orbital hemangiomas may produce proptosis or
- Do not affect vision or intraocular pressure displacement of the globe and can enlarge with
- Incidence- Very rare in the orbit
-Age- Majority present at or shortly after birth Orbital teratomas (3)[C] crying or Valsalva maneuvers
- Sex- 2:1 Females: Males -Tend to be more com man in the left orbit - For more information an orbital hemangiomas,
- Decreased vision (may be difficult to assess) please refer to ltle Orbit/Oculoplastics or Pediatric
RISK FACTORS - Proptosis, tight eyelids, and a tense orbit may be Section on capillary hemangiomas
None identified present Rhabdomyosarcomas are the most common
PATHOPHYSIOLOGY - Performing transillumination may illuminate cystic pediatric malignant orbital tumors (2)[C[, (4)[CI
Orbital dermoid/epidermoid Cysts (1 )[C], (2)[C[ areas within ltle mass -Presents with rapid proptosis in the first decade of
-Arise from embryonic ectoderm that is sequestered DIAGNOSTIC TESTS & INTERPRETATION life, with an average age of 7 years
between bones along fetal lines of closure Imaging - CT imaging shows an irregular tumor with
- Rarely, a dermoidfepidermoid cyst may be Orbital dermoid/epidermoid cysts (l)[C] well-defined margins, soft tissue attenuation and
completely confined within orbital soft tissues Initial approach there is often bony destruction/erosion.
without direct contact with a bony suture - Orbital CT (with axial and coronal views) or MRI to - Once a tissue diagnosis is made, systemic survey,
-There are 3 types identified: Juxtasutural, sutural, aid with surgical planning including bone marrow biopsy, and staging should
and soft-tissue types - On CT - A round to ovoid lesion with distinct be performed
Orbital teratomas (3)[C] margins. Lumen is usually homogeneous and does - Prognosis improved with advancements in
-Arises from aberrant germ cells and more not enhance with contrast. systemic chemotherapy and radiation therapy.
commonly occurs in ltle gonads, retroperitoneum, - On MRl- A round to ovoid lesion with variable Lymphangiomas are benign congenital vascular
or mediastinum amounts of material in the lumen relatively malformations that may involve the conjunctiva,
-Tumor comprised of mature tissue derivatives from isointense to vitreous on T1- and T2-weighted eyelids or deep orbit (2)[C[, (4)[C]
all 3 germ cell layers images. The wall enhances with gadolinium. -Typically present in the first 2 decades of life
Follow Up & Special Considerations - May slowly enlarge over years but may also have
-Repeat imaging may be ordered when observing sudden proptosis from an intralesional
Orbital dermoid/epidermoid Cysts (1 )[C]
the lesion for growth or for any change in clinical hemorrhage
- Occasionally astigmatism
exam - For more information on lymphangiomas, please
- Rarely proptosis, diplopia or motility disturbance
refer to the Orbit/Oculoplastics section on vascular
- No association with visual loss or elevation of Orbital Teratomas (3)[C]
orbital tumors
intraocular pressure Initial Approach
Orbital teratomas (3)[C] - Orbital CT - helpful in detecting calcification
- Severe proptosis and expansion of the orbit are characteristic of teratomas which helps to
common distinguish this from other orbital lesions
- Large masses with severe proptosis may lead to - Both CT and MRI show an enlarged orbit with a
exposure keratopathy, conjunctival keratinization, multiloculated soft tissue mass
corneal ulcer formation, and vascular congestion Follow Up & Special Considerations
-Repeat imaging should be performed after
surgical excision of teratoma
502
ORBITAL TUMORS: CONGENITAL I
Optic nerve gliomas arl! the third most common SURGERY/OTHER PROCEDURES COMPLICA110NS
orbital tumors In children (2)[C] Orbital dermoid/epidermoid cysts (1)[C], (2)[CL Orbital derrnoldfeplderrnold cysts (1)[C]
- Most often associated with Neuroftbromatosls (4)[() - May rupture spontaneously or with trauma
type I (usually bilatera 0, but may also oCOJ r - These benign lesions may be obseNed or excised resulting in an intense inflammatory reaction
sporadically surgically resembling orbital cellulitis
- Mean age of 8 years at presentation - Surgery may be considered when oosmesis is an - Very rarely, these cysts may evolve into squamous
-Common presenting symptoms are proptosis and issue due to its size or if it is in a location subject cell carcinoma
visual changes and may have headache or pain to trauma and possible rupture Orbital teratomas (3)[C]
witl1 intraaaniaI extension - Must consider risk of general anestl1esia when - SurgicaI excision or exenteration may result in loss
- On CT gliomas appear as a fusifurm enIargement pursuing surgical management especially in of vision or loss of the eye
of tl1e op1ic nerve infants
-Treatment is surgical excision - Rupture of the capsule should be avoided during
Congenital cystic eye -failure of globe to form removaI of the cyst REFERENCES
du~ng embryogenesis resulting In orbital cysts Orbital teratomas (3)[C], (4)[C]
1. Castillo BV, Kaufman L Pediatric tumors of the eye
composed of primitive ocular tissue (2)[C) - Surgical excisionfdebulld ng - should aim to
and omit. PediatrCiin NAm 2003;50:149-172.
Other considerations: preserve the globe and visual function, as well as
omitaV!acial development and cosmesis 2. Mehta M, Chandra M, Sen S, et al. Omital
-Retinoblastoma with omital extension
- Massive teratomas may require treatment with teratoma: A rare cause of congenital proptosis. C/in
- Lymphoid tumors
orbital exenteration Expetfment Ophfha/mo/2009;37:626--628.
- Neuroblastoma
- Melanocytoma 3. Shields JA, Kaden IH, Eagle RC, et al. Orbital
- Omital cellulitis dermoid cysts: Clinicopathologic correlations.
- Lacrimal mass
ONGOING CARE classification, and rna nagement. The 1997
-Daayops Josephine E. Schueler Lecture. Ophthalmic PIart
FOLLOW-UP RECOMMENDATIONS Reconstr Surg 1997;13:265-276.
-Abscess Patient Monitoring
- Parasitic larval cyst 4. Volpe NJ, Jakoblec FA. Pediatric orbital tumors. /nt
Orbital dermoidfepidermoid cysts Ophrhalmo/ Clln 1992;32:201-21.
-Sarcomas - If observation Is elected, a generaI
-Malignant medullaepithelioma ophthalmologist, pediatric ophthalmologist, or
- Fibrous dysplasia oculoplastic surgeon may follow the patient
-Mucocele routinely and also inle!vene surgically if warranted . CODES
- Encephalocele - An owloplastic surgeon may be most comfortable
- Colobomatous cyst and experienced In surglca lly excising orbital ICD9
dermoid cystS 224.1 Benign neoplasm of orbit
Omital teratomas 238.8 Neoplasm of uncertain behavior of other
. TREATMENT - Needs regular follow-up to detect recurrences or specified sites
ADDITlONAL TREATMENT rna lignant transformation
Issues for Refem.l - May require further reconstructive prated ures
after su rg leal excision or exenteration CLINICAL PEARLS
0 lbitaI dermoidfepidermoid cysts
- If asymptomatic, patient may follow-up routinely PROGNOSIS Both omitaI dermoidfepidermoid cysts and omitaI
witl1 a generaI ophtha lmolog1st or pedlatl1c OmitaI dermoicVepidermoid cysts {1)[C[ teratomas are typically benign lesions.
ophthalmologist - Benign lesions Orbital derrnolds/epldermolds are usually
- If large or symptomatic (globe displacement. pain, - Normal vision/ocular development superotemporal, painless subcutaneous masses tl1at
inflamed), consider referring prompt~ to an Orbital teratomas (3)[C) do not commonly affect vision or intraocular
oculoplastic surgeon or pediatric ophthalmologist - Benign lesions pressure.
0 mltaI teratomas - Rarely malignant Orbital teratomas are a rare cause of rapidly
- If an omitaI teratoma is suspected or confirmed by - If the globe is salvaged, visual prognosis may be growing proptosis In an Infant and require promp1
imaging, the patient should promptly be referred poor referral to an oculoplastlc surgeon or pediatric
to an oculoplastic surgeon or pediatric ophthalmologist for management.
ophthalmologist for surgical management Proptosis in a child must be investigated and always
consider rhabdomyosarcoma as possible etiology.
503
ORBITAL TUMORS: MOASTATIC
Rachel K. Sobel
Jacqueline Carrasco
~ BASICS
Extraocular muscles are often seeded because of Lab
their abundant blood supp~. Initial lab tests
DESCRIPTION The bone marrow of the sphenoid bone is also Patients suspected of having metastatic disease by
Metastatic orbital tumors are tumors that have commonly involved because of the high volume of history and examination should have biopsy before
spread hematogenously to the soft tissue or bones low-flow venous channels in the bone. extensive lab testing is performed. However, if
in the orbit. inflammatory processes are also in ltle differential,
The most common primary sites are breasts in ETIOLOGY
See above. ACE, p-ANCA, c-ANCA, and PPD may be helpful.
women and lungs in men. Follow-up a spec:ial consideretions
Other metastases may originate from prostate COMMONLY ASSOCIATED CONDITIONS Once biopsy results show suspected metastatic
gland, sk.in melanoma, gastrointestinal, and kidney Not applicable. disease, prompt referral to a medical oncologist is
cancers. warranted and further laboratory testing is indicated
Carcinoid tumors of ileal or appendiceal origin
usually metastasize to orbit, whereas bronchial ~ DIAGNOSIS based upon the individual cancer.
Imaging
carcinoid tumors usually involve the uveal tract. HISTORY Initial approach
Cutaneous melanoma can also metastasize to the Average age of presentation is seventh decade in CT scan or MRl with contrast can delineate extent of
orbit. adult cases. orbital involvement. These images may assist in
Metastatic tumors in children are uncommon and 25--35% of patients do not have a primary surgical planning.
come from adrenal neuroblastoma, Wilms tumors, malignancy at the time of ocular presentation.
and Ewing tumor. Follow-up a special considerations
Diplopia, pain, and visual loss are most common Medical oncologists coordinate further imaging,
EPIDEMIOLOGY symptoms. including PET scanning and other modalities to
lnddence Also, ptosis (droopy eyelid), proptosis (bulging eye), determine the involved sites.
Data not available. eyelid swelling, and palpable mass are common
features. Diagnostic Procedures/Other
Prevalence Histopathology is necessary to make diagnosis.
Metastatic orbital tumors comprise about 7% of all PHYSICAL EXAM - lncisional biopsy is done when ltle tumor is
orbital tumors. Clinical presentation can be divided into 3 infiltrative and/or unable to be complete~
subcategories: removed because it is adherent to adjacent vital
RISK FACTORS - Infiltrative is characterized by motility restriction, structures.
The risk factors for primary neoplasm are also the risk resistance to retropulsion, ptosis, and - ExcisionaI biopsy is preferred whenever possible.
factors for orbital metastasis. enophltlalmos. - Fine-needle aspiration biopsy (FNAB) may also be
Genetia - Mass is characterized by proptosis and often a performed. Scirrhous breast carcinoma and
Genetics plays a strong role in many cancers and palpable orbital mass. gastrointestinal cancer may be dry taps.
their ability to metastasize. We have not yet - Inflammatory is characterized by pain, chemosis. Pathological Findings
characterized ltle genes that specifically enable erythema, and periorbital swelling. Histopathology will be similar to primary neoplasm.
cancers to metastasize to ltle orbit. Decreased vision can occur from orbital congestion, Standard hematoxylin and eosin stains can help
There is no specific gender predilection. with optic neuropathy and choroidal folds. make the diagnosis.
GENERAL PREVENTION Enophthalmos is another important diagnostic sign. Immunohistochemistry, cytopaltlology, and special
Prevention and treatment of primary neoplasm helps It comes from tethering and posterior traction on the stains may aid in distinguishing final pathologic
prevent metastatic orbital tumors. globe from scirrhous metastasis such as breast or diagnosis, particularly in poorly differentiated
gastrointestinal carcinoma. specimens.
Cranial neuropathies from orbital apex involvement
or cavernous sinus involvement are possible.
504
IIIBITAL TUMORS: METISJATIC I
DIFFERENTlAL DIAGNOSIS o Shields JA. Shii!l ds, ( L, Scartozzi R. SuM!Y of 1264
Inflammatory orbital processes such as sarcoid, TB, ONGOING CARE Patients with Orbital Tumors and Simulating Lesions.
and ldlopathlc orbItaI Inflammation Ofirlha/mology 2004;11;997-1008.
Primary orbital tumors, such as ocular adnexal FOLLOW-UP RECOMMENDATIONS o Shields JA. Shields CL. Orbital Metastatic Cancer. In:
lymphoma, meningioma, or vascular lesions o Close follow-up is indicated to stage patient from a Shields JA. et al. Eyelid, Conjunctival, and Orbiti!l
Olbital cellulitis systemic standpoint. Ophthalmic care should be Tumors: an Atlas and Textbook. Orbital Metastatic
coordinated in a rtep-wise logical fashion with Cancer. Philadelphia: lippincott Williams and
Thyroid eye disease
life-saving treatments.
fl
Wilkins, 2007:728-743.
o Palliative radiotherapy, chemotherapy, and hormone
TREATMENT therapy are indicated depending upon the cancer.
PROGNOSIS . CODES
MEDICATION o Overall prognosis is poor. It is about 1 year.
Meditilltreatment, that is, chemotherapy and ICD9
hormone therapy, varies depending upon the type of The exception Is orbital carcinoid metastases, whose
5-year survival is 72%. 198.4 Secondary malignant neoplasm of other parts of
primary neoplasm and its stage. External beam nervous system
o Survival is short-lived in most cases of metastatic
radiotherapy if often used as additiorlal therapy.
adenocardnoma.
Genetal Measutes COMPUCATIONS CLINICAL PEARLS
Treatment is aimed at preserving vision and Systemic manlfestatlons of metastatic cancer.
o A quarter ol aII patients with orbital metastasis do
addre5sing pain. not have a primary diagnoses at the time of
External beam radiotherapy Is often flrst line ADDITIONAL READING pre5entatlon.
treatment for local control of olbital tumor. An ophthaImologlst may therefore be the fl rst to
lssuu for Refem~l Char DH, Miller T, Kroll S. Orbital Metastases: diagnose a serious illness lib! metastatic Cilncer. A
Prompt referral to a medical onmlogirt is necessary. Diagnosis and courw. Br J OfirthalmoJ. 1997;81(5): high index of suspicion and rapid diagnosis is
386-390. crucial. Prompt referral for systemic woric:-up can
COMPLEMENTARY & ALTERNATlVE o Ferry AP, Font RL. Carcinoma metasmtic to the eye then be pursued.
TliERAPIES and omit. I. A clinicopathologic study of 227 cases. Enophthalmos can be the tricky presenting sign of
Discuss with primary medical oncologist. Arch ophthatmo/197s;93cn:472-482. sdnhous breast cardnoma or gastrointestinal
SURGERY/OTHER PROCEDURES o Goldberg RA. Rootman J. CIinical characteristics of cancer. It is often confused with mntralateral
Aggressive surgical treatment may rare~ be indicated Metastatic Orbiml Tumors. Ofirtha/malogy 1989;97: proptosis.
induding wide excision or exenteratiorl with radiation 62(Hi24. Although survillal is dismal, local treatment as well
depending upon staging and prognosis. o Mehm JS, Abou-Rayyah Y. Rose GE. Orbital as systemic chemotherapy can greatly affect quality
carcinoid metartases. Ophtfla/mo/ogy 2006;113(3): of llfe.. Radiotherapy can Improve vision.
IN-PATIENT CONSIDERATIONS 466-472.
Typically not indicated.
Admasion Crit.wia
Patients are typlca lly staged as outpatients but may be
admitted to the hospital for medical or social
indiCillions.
IV Fluids
As needed for assodated systemic problems.
Nursing
As needed for assodated systemic problems.
505
ORBITAL TUMORS: VASCUlAR
Rachel K. Sobel
~ BASICS
Varix: Results from presumably a congenital Lymphangiomas are probably present at birth but
weakness in the postcapillary venous wall, which don't become apparent until years later when the
leads to proliferation of venous elements and lesions abruptly present due to hemorrllage.
DESCRIPTION massive dilation of the valveless orbital veins. Varix: Presents in young adulthood associated with
Orbital vascular tumors encompass a wide variety of Arteriovenous lesions: Derived from multiple positional proptosis (worse with Valsalva or bending
pathology. They can be subdivided by congenital microvascular connections between over).
histopathology and growth characteristics (1 ). arteries and veins without a capillary bed. Hemangiopericytoma: Mean age of presentation is
Capillary hemangiomas Hemangiopericytoma: There is controversy as to the fifth decade with slowly progressive proptosis,
Venous vascular malformations (cavernous existence of tllese as a distinct entity versus part of sometimes painful. More common in orbit in males.
hemangiomas and orbital varices) the category of solitary fibrous tumors. Thought to Arteriovenous malformation: These are rare in the
Venous lymphatic malformations be derived from vascular pericytes, contractile. 15% orbit. Typically present with periorbital swelling.
Arteriovenous lesions metastasize.
PHYSICAL EXAM
Neoplasms (i.e., hemangiopericytoma) COMMONLY ASSOCIATED CONDITIONS External skin changes
Orbital vascular tumors may also be classified by KasabachMerritt syndrome is a syndrome of Ptosis
hemodynamic characteristics (2) platelet entrapment and thrombocytopenia Astigmatism
- No flow (lymphangioma) associated with hemangiomas.
-Venous flow (varix) Amblyopia
Blue rubber bleb nevus syndrome is associated with
-Arterial flow (arteriovenous malformation) Lagophthalmos/corneal exposure
multiple cavernous hemangiomas.
Afferent pupillary defect
EPIDEMIOLOGY Orbital lymphangiomas have been seen with orbital
and intracranial arteriovenous malformations. Restriction of motility
Incidence Proptosis
Vasculogenic tumors make up 17% of all orbital Orbital varices can be associated with defects in
orbital bone and cephaloceles. Color vision deficit
tumors (3).
- Capillary hemangioma (3%) PHACE syndrome (posterior fossa brain Visual field constriction
- Cavernous hemangioma (6%) malformations, large facial hemangiomas, arterial Dilated exam: Choroidal folds
-Varix2% anomalies, cardiac anomalies, and eye Glaucoma
- Lymphangioma (4%) abnormalities) is associated with capillary Changes in vascular tumors in size can occur with
- Hemangiopericytoma (1 %) hemangiomas. crying, coughing, and upper respiratory infections
WyburnMason syndrome is associated with due to vascular or lymphatic engorgement.
Prevalence
Unknown arteriovenous malformations. DIAGNOSTIC TESTS & INTERPRETATION
~ DIAGNOSIS
PATHOPHYSIOLOGY Imaging
See below CT or MRI will help delineate characteristic features
of the tumor (4)
EnOLOGY HISTORY - Capillary hemangioma: Round, ovoid
Capillary hemangiomas: Unknown but current Capillary hemangiomas appear in the first few circumscribed mass.
theory is that IIley are of placental origin and may be months of life as a soft bluish mass deep to the - Cavernous hemangioma: Round, ovoid mass
either emboli or direct extension of placental tissue. eyelid. Typically they progress during the first few usually in the muscle cone. May also occur in
Cavernous hemangioma: Some have proposed that months of life, then stabilize at 6-12 months, and bone. Progressive accumulation of contrast in late
these are of venous origin; others theorize that they regress over the next 'j-7 years. Often they have phases due to low flow.
are low flow arteriovenous malformations. Growth accompanying skin changes, strawberry - Lymphangioma: Chocolate cysts as seen on
may be mediated by angiogenic or cytokine induced hemangiomas that help make the diagnosis. More imaging are hemorrhagic cystic structures.
factors due to association between growth of common in females. Sometimes these have fluid-fluid levels within the
hemangioma and puberty and pregnancy. Cavernous hemangioma is most common in the fifth cyst based on different ages of the fluid.
Lymphangioma: A vascular malformation that occurs decade (40s). Patients typically present with -Varix: Round or irregular mass that becomes
during embryogenesis from sequestration of unilateral painless proptosis without involution. apparent with Valsalva.
lymphatic tissue. More common in women. - Hemangiopericytoma: Typically lobulated and
well-circumscribed but may have infiltrative
margins.
-Arteriovenous malformation: May need
angiographic protocol or traditional angiography
to diagnose.
506
ORBITAL TlJMORS: VASCULAR I
Diagnostic ProCIIrJu/WSIOthaT Lymphangioma: Observation is typical, but if there is 3. Shields JA. Shields Cl., Scartozzi R. Survey of 1264
Fine needle aspiration or totaI excision may be unacceptable proptosis or visual compromise, patients with orbital tumors and sl mulatlng lesions.
necessa~ If there Is diagnostic uncertainty or a treatment indudes intralesional injection of Ophthalmology 2004;111 (5):997-1 008.
concern for mallgnaney. sclerosing agents (6)[C), carbon diOJdde ablation 4. Smoker W, Gentry L. Vee N, et al. vascular lesions
llathologlcill Findings (n(C). and intralesional injection of steroids. of the orbit: More than meets the eye.
CapiIIa~ hemangioma: CapiIIa~ sized lll!SCular Surgical management is very difficuIt as it is RadiograJi!ia 2008;28(1):185-204.
spaces surrounded by proliferating benign d1allenging to remove the entire growth. 5. Leaute-l.abreze C, Dumas de Ia Roque E, Hubiche
endathelial cells. Hemangloperlcytoma: Standard treatment Is wide T, et al. Propanolol for severe hemangiomas of
Cavernous hemangioma: Dilated congested vascular surgical excision with postoperative irradiation for infancy. N Eng/1 Med 2008; 358(24):2649--2651.
channels lined by flattened endothelial cells with an incompletely acised tumors. 6. Burrows PE. Mason KP. Percutaneous treatment of
intErvening fibrous inrerstitium. o ArtEriovenous malformation: Embolization and in low-flow vasrular malformations. 1 Vas /nrerv
[mphangioma: Dilated ecstatic lll!SCular channels some cases. surgery. Radio/2004;15:431-445.
filled with clear fluid or blood. SURGERY/OTHER PROCEDURES 7. Kennerdell JS, Maroon JC, Garrity JA, et aI. Surgical
Va~x: Dilated veins with hyallnlzat!on and Observation Is acceptable for lll!SCular tumors that management of orbital lymphangioma with the
thrombosis. do not cause visual deficit or facial deformity. carbon dioJide laser. Am 1 Ophtlla/mo/ 1!186;102:
Hemangioperitytoma: Staghom-likl! capillary spaces Surgical removal or debulking can be diffirult with 308--314.
lined by prolifell!ting pericytes. One-third are vasOJ lar tumors because of the risk of bleeding.
histopathologically consistent with malignancy. Su rg icaltreatment is recommended when the tumor ADDITlONAL READING
Arteriovenous malformation: Multiple congenital becomes symptomatic. visually or cosmetically.
connections between arte~es and vel ns without a o Shields JA. Shields CL. Orbital vasrular and
capillary bed. hemorrhagic lesions. In: Shields JA, Shields Cl., eds.
ONGOING CARE Eyelid, conjunctival and Otbff#J t!JmOtS. Philadelphia:
0 rbita I tu mars (meningioma, gliorna) PROGNOSIS LlpplnconWIIIIams and Wilkins, 2008:516-553.
Metastatic orbital tumors Varies with the type of vascular tumor and its location
Idiopathic orbltallnflam matlon in the orbit
Thyroid-related orbitopathy
. CODES
COMPUtATIONS
fl TREATMENT
MEDICATION
Incomplete excision of hemangloperlcytOma may lead
to malignant transformation.
REFERENCES
ICD9
224.1 Benign neoplasm of orbit
228.09 Hemangioma of other sites
456.8 varices of other sitEs
FimLine
CapiIIa~ hemangiomas: Observation; topical, oraI or 1. Mulllken JB, Glowackl J. Hemangiomas and
intralesional corticostEroids; interferon aIpha; laser; vascular malformations in infants and children. A CLINICAL PEARLS
surgical. A new noninvasive therapy is beta-blocker classification based on endotheliaI characteristics.
propanolol (5)[C). Plast Reronstr Surg 1982;69(3):412-422. vascular tumors may be difficult to remove because
Cavernous hemangioma: Typically conservative 2. Harris GJ. Orbital vascular malformations: A of their association with blood supply and deep
unless unacceptable proptoSis or visual defldt consensus statement on term lnology and Its dlnlcal location in the orbit.
makes surgery an option. impIications. Orbital Society. Am 1 Ophtha/mo/ Close observation Is an acceptable option untll
1999:127(4):453-455. cosmetic deformity or visual compromise occurs.
Varix: Surgical excision if unacceptable cosmetic
changes or visual compromise. Most vascular tumors are not real~ tumors. but
rather rna lformations.
Propranolol is an increasingly acceptable
noninvasive way to treat Infantile capillary
hemangiomas.
507
PAGET'S DISEASE
Lili Grunwald
Lan Chen
Vatinee Bunya
~ BASICS
Elevated SAP, normal serum calcium (can be Ophthalmic features:
elevated if immobile due to unopposed increased -Angioid streaks: dark red to brown bands
bone resorption) irregularly radiating from optic nerves deep to the
DESCRIPTION Hypercalcemia in an ambulatory patient with retina. Usually bilateral
A bone remodeling disorder resulting in increased Paget's may be due to another cause such as -Atrophic retinal pigment epithelium (RPE)
bone turnover hyperparathyroidism. overlying angioid streaks
Disorganized bone formation and break down Angioid streaks in the eye occur due to - RPE clumping witf1 focal hyperpigmentation
impairs integrity of affected bone. discontinuities in thickened Bruch's membrane. - High risk for CNV membranes with RPE
Often asymptomatic, however can be associated detachment or serous and/or hemorrhagic
witf1 pathologic fractures, bone deformity, deafness, ETIOLOGY detachments of the retina
and cranial nerve compression due to enlarged Cause unknown - Peau d' orange is midperipheral RPE mottling
bones and secondary osteoarthritis. Viral infection may play a role in the etiology. sometimes associated with angioid streaks due to
Elevated serum alkaline phosphatase (SAP) and COMMONLY ASSOCIATED CONDITIONS Paget's.
abnormal radiography or bone scan The most common diseases to be associated with - Compressive optic neuropathy that may cause
Ocular manifestations include angioid streaks, angioid streaks can be remembered with the optic atrophy
orbital involvement of sarcomas, and compressive "PEPSI" mnemonic. - Orbital soft tissue sarcomas
optic neuropathy. - P: Paget's disease DIAGNOSTIC TESTS & INTERPRETATION
- E: Ehlers-Dan los Lab
EPIDEMIOLOGY - P: Pseudoxanthoma elasticum (PXE)
Prevalence Initial lab tests
- S: Sickle cell hemoglobinopatf1y Elevated SAP
Paget's disease is found in 1-2% of Caucasian - 1: Idiopathic
adults older than 55 years. Also check. serum calcium, albumin, paratf1yroid
hormone, phosphorus, 25-hydroxy vitamin D, and
~ DIAGNOSIS
Prevalence increases witf1 age.
Up to 15% of patients with Paget's disease have urinary calcium.
angioid streaks. Follow-up 1ft special considerations
HISTORY Routinely monitor SAP
RISK FACTORS Majority are asymptomatic and diagnosed by Fundus examination may show angioid streaks or
Poorly understood; however, genetic and routine serum chemistry screen with elevated CNV.
environmental risk factors - such as viral infection, alkaline phosphatase or radiography performed for
may have a role. another reason. Imaging
Large ethnic and geographic differences in Bone pain, bowed tibias, fractures, headache, large Initial approadl
prevalence. It is more common in people of head, deafness, warmth over affected areas Radiography shows dense mosaic bones.
Anglo-Saxon origin. Decreased vision, metamorphopsia, scotoma Bone scans are the most sensitive test and can be
used to evaluate the extent and activity of disease.
Genetics Cardiac disease and abnormalities in calcium and
Pagetic bone lesions appear as focal areas of
There appears to be a genetic component. phosphate balance can occur.
increased uptake.
Approximately 15% of patients have a positive Excessive bleeding during orthopedic surgery may
family history. occur. Follow-up 1ft special considerations
Repeat imaging with change in symptoms.
Some families witf1 autosomal dominant inheritance PHYSICAL EXAM
have been described. CT or MRI if bone pain increased or refractory to
Systemic features: treatment
GENERAL PREVENTION -The most common bones affected by Paget's
disease are the flat and long bones including the Diagnostic Procedures/Other
No treatment is known to prevent choroidal
spine, femur, pelvis, skull, clavicle, and humerus. Please refer to tf1e angioid streaks chapter for more
neovascular (C NV) membranes, which are tf1e most details.
visually significant complications of angioid streaks. - Bone fractures may occur.
-Increased incidence of bone tumors, which Ophthalmic diagnostic imaging tests for angioid
PATHOPHYSIOLOGY present with pain or an enlarging mass streaks and CNV may include fundus fluorescein
Focal areas of increased osteoclastic bone resorption - Cardiac complications due to widespread severe angiography (FA), optical coherence tomography
witf1 bone marrow fibrosis, increased vascularity of disease causing heart failure, aortic stenosis, and (OCD, or indocyanine angiography (ICG).
bone, and disorganized bone formation conduction abnormalities
Enlarging and abnormally contoured bones that may
bow or fracture
508
PAGErS DISEASE
Pathological Findings lssllfls for llfl,.,ral 3. Browning AC, Chung AK, Ghand1i R, et al. p
Mosaic pattern of lamellar bone associated with Refer to ophthalmology to monitor and treat ocular Verteporfln photodynamic therapy of choroidal
Increases In local bone blood flow and In fibrous tissue complications.. neovascula~zatlon In angioid strealts. One-year
In adjacent marrow No treatment for angioid streab results of a prospective ase :series. OphthaJmology
Treatment options for ocular CNV indude the 2005;1 t2:1227-t231.
DIFFERENTlA.L DIAGNOSIS
Osteomalacia following: 4. Sawa M, Fumi G, Motcuzu T, et al. Long-term
- l..asl!r coagulation (2)[C] results of intravitreal bevacizumab injection for
Hyperparathyroidism
- Photodynamic therapy (Pon (3)[C) choroidal neovascula~zatlon secondary to angioid
Vhamln Ddefldency streab. Am J Ophtha/mo/2009;148:584--590.
- lntravitreal antivi!SOJiar endothelial growth factor
Mallgnancy such as muhlple myeloma (anti-VEGF) therapy such as bevacizumab (4HCI
Additional Therapies ADDITIONAL READING
. TREATMENT Supplemental caldum with vitamin Dfor patients
with Paget's disease, pa111cularly Hthey are Dabbs TR, Skjadt K. Prevalence af angioid strea lcs
MEDICATION receMng blsphosphonate therapy. and ather ocular complications of Paget's disease of
FimLine - Anti resorptive therapy can improve bone pain; bone. BrJ Ophtha/mo/ 1990;74:579-582.
All medications used to treat Paget's disease of however. analgesics and anti-inflammatory Ralston SH, Langston AI.., Reid IR. Pathogenesis and
bone are inhibitors of osteoclastic bone resorption. medications may also be necessary. management of Pagefs dlsea5e of the bone. Lanan
Newer-generation nitrogen<ontaining SURGERY/OTHER PROCEDURES 2008;372:155--163.
bisphosphonates are the primary initial agents: Orthopedlc surgery to manage bony complications Whyte MP. Paget's di5ease of bone. N Eng J Med
- Zoledronic add: 5 mg IV single infusion reference For planned surgery at an active pagetic site, 2006;3 55:593-600.
(1)[A] preoperative medkal treatment may possibly
- Risedronate: 30 mg Dlillly daily for 2 months
- Pamidnonate: 30 mg IV for 3 days
decrease perioperative blood loss. a See AIIO (Taplc, Al1alfthm, Electronic
~ Media Ele11en0
- Alendnonall!: 40 mg daily for 6 months
$ ONGOING CARE Angioid streab
SfiCOIId Line
Simple blsphosphonates: FOLLOW-UP RECOMMENDATIONS
- liludnonate: 4{)0 mg orally daily for 3 months. Depends upon severity of systemic and ophthalmic
- Etidronate: 2D0-400 mg orally for 6 months disease . CODES
(5 mgl~g of body weight per day) Patient Monitoring ICD9
Calcitonin (r..uely used): Salmon calcitonin Amsler grid monitoring for metamorphopsia 363.43 Angioid strealts of choroid
50-100 units subartaneously dally or 3 times per Safety glasses for patient with angioid streab
week. 731.0 Osteitis deformans without mention of bone
becau5e of increased rislc of choroidal rupture and tumor
Side fifects of bisphosphonates at the dosing subsequent subretlnaI hemorrhage after trauma
regimen used in Paget's disease include but are nat
limited to PROGNOSIS
- Influenza-11~ syndrome Increased risk of osteosarcomas CLINICAL PEARLS
- Musculos~letal pain COMPUCA110NS Feiltures of Paget's disease Include the following:
- Osteonecrosis of the jaw Fractures and skeletal deformities -Bone pain
- Dyspepsia or diarrhea Increased ~sk of hlp and knee replacements -Pathological bone fractures causing cranial nerve
-Esophagitis Osteoarthritis impairment
- Rarely, uveitis and scleritis Bone pain - Elevated SAP
Contralndlcatlons to blsphosphonates Include Hearing loss - Abnormal radiography or bone scan
impaired renal function, partiClllarly with IV infusion. Blsphosphonates are effective therapeutic agents.
Spina1stenosis and neiVe com pression
Common side fifects of caldtonin include nausea.
vomiting. and flushing. Rarely, tachyphylaxis. VIsual loss
Hypercalcemia possible with immobilization
ADDITlONAL TREATMENT Rarely, osteosarcoma, cardiac failure.
General MNSUIU hydrocephalus, and paraplegia
NOTE: Bisphosphonates are poorly absorbed orally.
They must be ta~n with watet first thing in the
morning. at least 30 min before any food, beverage. REFERENCES
or ather oral medications.. Patients should not Iie
down during the5e 30 min. 1. Reid IR, Miller P. Lyles K. et al. Comparison ofa
If supplemental calcium Is ta~n. It should be single infusion of zoled ronic add with risedronate
separated by at least 2 h from bisphosphonates for Paget's disease. N Enfl J Med 2005;353:
because calcium can decrease the absorption of 898--908.
bisphosphonall!s.. 2. Lim JL. Bressler NM, Marsh MJ, et al.l.aser
A normal 5erum 25-hydroxy vitamin D and calcium treatment of choroidal neovaswlarization in
levels are generally needed before gMng patients with angioid strealts. Am J Oph thaJmol
blsphosphonates.. 1993;116:414--423.
509
PAPillEDEMA
Rod Foroozan
~ BASICS ETIOLOGY
The compartment surrounding the brain and spinal
cord act as a dosed system containing neural tissue,
Optic disc edema is most commonly bilateral but
may be asymmetric and rarely unilateral. Grading
schemes (e.g., the Frisen staging system) have been
DESCRIPTION CSF. and the vascular system. Alterations in any of proposed to provide a semiquantitative measure of
Papilledema is defined as optic disc swelling these three components may cause elevated the optic disc edema (2)[C]. Early changes include
secondary to elevated intracranial pressure. It is intracranial pressure. opacification of the retinal nerve fiber layer. loss of
typically bilateral but can be asymmetric. spontaneous venous pulsations, and loss of the
normal physiologic cup. Later vascular changes
ALERT
IIH (most common in ophthalmic practice): The occur with optic disc hemorrhages, cotton wool
Papilledema may be caused by a life-threatening spots, and retinal and choroidal folds. More severe
diagnostic criteria for IIH include the absence of a
condition including meningitis, mass lesion, disc edema may cause retinal vascular occlusions
mass lesion on neuroimaging, elevated opening
hydrocephalus, and cerebral venous sinus pressure on lumbar puncture, and normal CSF and retinal, subhyaloid, and vitreous hemorrhage.
thrombosis (cvsn. consistency (1)[A]. Hard exudate may form within the retina in a
Pediatric Considerations Venous obstruction (including cvsn, which may pattern of a macular star.
cause stroke and death Choroidal folds, typically horizontal and within the
Unlike in adults, idiopathic intracranial hypertension macula may cause a reduction in visual acuity.
(II H) occurs with equal frequency in prepubescent boys Intracranial mass lesion
Cerebral edema Concentric folds around the optic disc {Paton's lines)
and girls. may occur with optic disc swelling.
Meningitis
Pregnancy Considerations Several changes in the appearance ofthe optic disc
Thickening of the skull and craniosynostosis
Treatment with acetazolamide during pregnancy is may develop over time. which are not specific for
syndromes
controversial and generally avoided during the first papilledema. Disc pallor occurs and a reduction in
Hydrocephalus
trimester of pregnancy. Intra-abdominal catheters and the number of optic disc hemorrhages and cotton
Endocrinologic dysfunction wool spots can occur. Pseudodrusen {areas of
CSF diversion procedures may be limited by the
growing fetus. Spinal cord or choroid plexus tumor (rare) blocked axoplasmic flow that look. like optic disc
drusen but are not calcium deposits) may develop.
~ DIAGNOSIS
EPIDEMIOLOGY Alterations of the retinal pigment epithelium may
Incidence occur around the optic disc in areas where there was
The incidence and prevalence of all causes of HISTORY prior swelling or subretinal fluid. Gliosis may develop
papilledema are difficult to establish. Symptoms related to the underlying cause of on the surface of the optic disc. Once it is damaged
IIH, also known as pseudotumor cerebri, is most papilledema: for example, headache and stiff neck the optic disc may not swell from papilledema.
common in women with obesity between 18 and in meningitis, seizures and focal deficits from mass
45 years of age. DIAGNOSTIC TESTS & INTERPRETATION
lesion, and stroke related to venous sinus thrombosis
IIH 1-3 per 100,000 in the general population Lab
Symptoms that can be related to elevated Initial lab tests
20 per 100,000 in women with obesity ages intracranial pressure include the following:
2o-40 years Possible higher prevalence of anemia in IIH
- Headache. often positional and improves in the
The incidence of IIH is equal in prepubescent boys Coagulopathy may exist in CVST.
recumbent position and worsens with the Valsalva
and girls. maneuver Follow-up i spec:ial considerations
- Nausea and vomiting Can check electrolytes, particularly potassium levels, in
RISK FACTORS patients treated with diuretics
Weight gain and obesity predispose to IIH. - Pulsatile or pulse-synchronous tinnitus or other
auditory phenomena likely related to turbulent Imaging
Sleep apnea may increase the risk of papilledema
flow within the cerebral venous sinuses Initial approach
(II H).
-Transient visual obscurations or temporary
Some medications (tetracyline, vitamin A. growth blackouts of vision lasting seconds, often related Neuroimaging of the brain is vital. MRI is preferred
hormone) may cause elevated intracranial pressure. to a change in position. They are thought to occur over CT in most patients. Some recommend
Hypercoagulability predisposes to CVST. from a transient loss of perfusion due to optic disc magnetic resonance venography {MRV) or computed
Surgical procedures such as internal jugular vein swelling. tomographic venography (CTV) to exclude CVST in
ligation (cvsn - Diplopia occurs most commonly from sixth nerve all patients with papilledema, particularly in those
palsy, which may be unilateral or bilateral. It may without a structural lesion who do not fit the typical
Genetics demographic profile of IIH (3)[8].
No dear genetic predisposition to papilledema also be from comitant esotropia and rarely from
Some conditions may have a genetic component third or fourth nerve palsy. MRV and CTV may show narrowing of tile cerebral
(e.g., hyercoagulable disorders predisposing to venous sinuses (which may be a reflection of
PHYSICAL EXAM elevated intracranial pressure).
cvsn. Visual acuity is generally normal in early
Some familial reports of IIH papilledema unless there is another abnormality Nonspecific imaging findings from elevated
(e.g., choroidal folds). intracranial pressure may include an empty sella,
GENERAL PREVENTION increased T2-weighted signal consistent with
Weight loss (IIH) Pupils are brisk early on, as the optic neuropathy
increased CSF around the optic nerves, posterior
Serial eye examinations for patients taking progresses they may become sluggish and, with
bowing ofthe globes, and enhancement in the area
medications thought to predispose to elevated asymmetric involvement a relative afferent pupillary
of the optic nerve heads.
defect may be present.
intracranial pressure. Follow-up i spec:ial consideretions
Color vision is relatively preserved unless central
PATHOPHYSIOLOGY visual function is compromised. In atypical patients with papilledema, spinal cord
Mostly a mechanical process whereby nerve fibers imaging may reveal a tumor or structural abnormality
Visual field defects are nerve fiber bundle type:
within the optic nerve are compressed by elevated in the region of craniocervical junction.
arcuate defects and enlargement of the blind spot.
CSF pressure in the subarachnoid space. This results As optic disc edema progresses central visual Diagnostic Procedures/Other
in blocked axoplasmic flow. As swelling progresses function may be lost. Ultrasonography (with the 30 test) may be helpful
vascular obstruction may occur, with dilation of the (e.g., rule out optic disc drusen).
retinal venous system. lumbar puncture may be used to measure the
opening pressure and assess CSF consistency.
Intracranial pressure monitoring may be used to
follow and document spikes in CSF pressure.
510
PAPILLEDEMA
Optic disc edema with axonal swelling
Retinal nerve fiber layer thinning
ONGOING CARE
Depending on degree of optic disc edema, visual
3. UnA, Foroozan R, Danesh-Meyer HV, et al.
Occurrence of cerebral venous sinus thrombosis In
patients with presumed idiopathic intracranial
hypertension. Ophthalmology 2006;113;
I
,
2281-2284.
Hypertensive retinopathy deficit, and choice of treatment 4. Binder DK. Hortoo JC, I.Bwton MT, et al. ldiopathic
Optic disc drusen intracranial hypertension. Neurosurgery 2004;S4:
htient NlonitDring
Congenital~ anomalous optic discs Serial eye examinations with vtsual fleld assessment 538-551.
Optic disc edema from other causes Including should be considered. 5. Fridley J, Foroozan R. Sherman v, et al. Bariatric
ischemic optic neuropathy, inflammatory optic Depending on the cause of papilledema, patients surgery for the treatment of idiopathic intracranial
neuropathy (particularly neuroretinitis). and may need to follow with other spedalists including hypertension.} Neurosurg 2010;114(1):34-3!1.
compressive optic neuropathy neurosurgeons to monitor tumors or shunts, and
neurologists to treat headache.
ADDITIONAL READING
TREATMENT DIET
Weight loss (often 1G-20% of body weight) can Foroozan R, Kline LB. Chapter 1 papilledema. Optic
MEDICATION cause resolution of optic disc edema in IIH. nerve disorders, 2nd ecl. In: Kline LB, Foroozan R,
FltstLine o Current dinical trials to determine the l!fficacy of ~ New York, New York: Oxford Unlverslty Press,
Acetazolamide acetazolamide versus weight loss in IIH. 2007:41-64.
Corticosteroids to decrease brain edema in patients Friedman Dl. Papilledema in Walsh &Hoyt's dinica/
with mass lesions or cerebraI edema PATIENT EDUCATION neurrrofiJtha/mology, 6th ed. In; Miller NR,
Patients should be instructed to return for Newman NJ, eds. Philadelphia PA: Lippincott
Corticosteroids have also been used In IIH. examination if they develop progressive symptoms
Anticoagulants for CVST Williams & Wilkins, 2005:237-291.
induding visual loss. headaches. and diplopia.
SecondUne Recurrent or progressive papilledema (depending on
Furosemide and other diuretics the etiology) may represent:
Topiramate, batll for the headache and to help with -Tumor growth
. CODES
appetite suppression In patients with IIH - Recurrent or progressive CV5T
- Progressive optic disc edema from IIH ICD9
ADDITIONAL TREATMENT - Worsening hydrocephalus 377.00 Papilledema, unspecified
General Measures o 377.01 Papilledema associated with increased
Weight loss for patients with IIH PROGNOSIS intracraniaI pressure
Systemically depends on the cause of the papilledema.
ISsues for Refeml Visual outcome depends on the degree of optic disc
Neurosurgery for mass lesions and CSF diversion edema and visual loss at the onset of treatment. CLINICAL PEARLS
procedures (4)[8[ Excellent visual prognosis for patients with mild optic
disc edema. Papilledema is optit disc edema secondary to
Consider hematologic consultation for coagulation
elevated lntraaanlal pressure.
disorders in patients with CVST COMPUCATIONS
Fixed visua!loss Papilledema may be a marker of a potentially
Endoalnologlc evaluation In some patients (e.g., life-threatening disorder including an intracranial
polycystic ovarian syndrome) o Chronic headaches
mass lesion, hydrocephalus, meningitis. or CVST.
Additional Ther.~ples o Allergic reactions or side effects to medication
o IIH is tht most common cause of papilledema in an
Gastric bypass surgery and ensuing weight loss can (particular acetazolamide) ophthalmic practice.
lead to an improvement of papilledema in patients Complications related to lumbar puncture (bleeding,
with IIH (5)[C[. infection, postspinal headache)
Repeated lumbar punctures can be performed as a o Complications related to shunts (infection, catheter
temporizing measure to lower CSF pressure (e.g., migration, failure necessilll'ling revision)
during pregnancy) in patients with IIH. Complications from optic nerve sheath fenestration,
lndudlng visual loss and diplopia
Neurosurgery for mass lesions and CSF diversion
procedures such as ventriculostomy REFERENCES
Ventriculoperitoneal and Iumboperitoneal shunting
SurgicaI intervention is often undertalcen after a triaI 1. F~edman Dl, Jacobson DM. Dlagnostlcc~terla for
of medical therapy in IIH. idiopathic intracranial hypertension. Neurology
Optic nerve sheath fenestration, particularly in 2002; 5!1:14!12-14!15.
patients with progressive visual loss despite medicaI 2. Scott CJ, Ksrdon RH, Lee AG, et al. Diagnosis and
therapy, more marla!d visual loss, and those without grading of papillEdema in patients with raised
headache as a predominant symptom intraaaniaI pressure using optical coherence
tomography vs clinical t!J~Pert assessment using a
IN-PATIENT CONSIDERATIONS clinical staging scale. Arch Ophtha/mo/ 201 0;128:
Initial Stabilization 705-711.
Depending on the cause of papilledema some patients
may require hospitalization (e.g., for intravenous
antibiotics in meningitis or hydrocephalus with
impending brain herniation)
511
PAPillEDEMA IN CHILDREN
Robert A. King
Increased ICP is transmitted to the optic nerve
causing reduced axoplasmic flow initially causing
Nerve fiber layer edema blurring the disc margin and
covering blood vessels
Peripapillary and disc hemorrhages
DESCRIPTION papilledema and ultimately leading to optic loss of spontaneous venous pulsations. Venous
Papilledema is bilateral optic nerve swelling from atrophy. pulsations are an important observation. When
elevated intracranial pressure (ICP). - Brain tumors, especially infratentorial tumors, present they indicate narmaiiCP. When absent they
EPIDEMIOLOGY cause obstruction of normal intraventricular flaw are of no value unless they were present on a prior
of cerebral spinal fluid (obstructive examination.
Incidence hydrocephalus).
Related to incidence of underlying cause of raised ICP. -Idiopathic intracranial hypertension (IIH) DIAGNOSTIC TESTS & INTERPRETATION
In young infants with open sutures, papilledema may (pseudatumar cerebri), either primary or Lab
not occur. secondary, leading to decreased absorption of CSF lumbar puncture for opening pressure, cells, and
Prevalence and subsequent ICP elevation protein. Normal opening pressure less than 180 mm
Unknown Hg CBC count might detect anemia or leukemia.
ETIOLOGY - Urinalysis for diabetes insipidus
RISK FACTORS Elevated ICP from any cause
Hydrocephalus with or without shunting IIH can be either primary or secondary. Imaging
Head trauma Initial approach
COMMONLY ASSOCIATED CONDITIONS MRl (preferred) or computerized axial tomography
Premature infants with grade 3 or 4 intraventricular See Risk Factors
hemorrhage (CAD scan to rule out intracranial mass and
diagnose enlarged ventricles or small ventricles in
~ DIAGNOSIS
For pseudotumor cerebri: certain medications (in
cerebral edema/pseudatumar
particular systemic retinoids, steroid withdrawal,
growth hormone, tetracycline) and systemic Optic nerve ultrasound can document swollen nerve
disorders (e.g., Down syndrome, obesity) HISTORY sheath and help in diagnosing drusen of the optic
Headache; especially those associated with nerve head (main cause of pseudopapilledema).
Craniosynostosis syndromes
awakening from sleep or awakening in the morning. Follow-up & special considerations
Brain tumor Headache in a patient with a known cause for high Papilledema may take 4-6 weeks to resolve after
Genetia ICP such as hydrocephalus or a teenager tailing ICP normalized.
No known genetic predisposition retinaids far acne is an ominous sign. Optic atrophy can occur in long term. Follow
Pediatric Considerations -Transient vision blurring (visual obscuration) patients for visual acuity, afferent pupillary defect,
lasting far a few seconds occurring several times and color vision.
Examination may be difficult, so it is imperative to
per day
identify those children who may be at risk of having Diagnostic Procedures/Other
- Nausea and vomiting
papilledema. - Infants and preverbal children may present with Visual field may show early defects near or adjacent to
Papilledema may be absent even in the presence of listlessness, irritability, and somnolence the blind spot or enlarged blind spot.
markedly raised ICP in infants with open sutures or
PHYSICAL EXAM DIFFERENTIAL DIAGNOSIS
in shaken baby syndrome. Optic nerve head drusen
Normal visual acuity early. Pupils usually normal.
GENERAL PREVENTION Cranial nerves can be affected, especially sixth nerve Hyperopic disc
Early recognition and treatment of increased ICP palsy. When visual acuity is affected, it can be lost Optic neuritis in children presents with asymmetric
quickly. Later or with recurrences (as in shunt and/or severe vision loss and asymmetric optic nerve
malfunctions) vision can be further reduced. Color swelling. The vision lass is a key difference in
vision may be affected before visual acuity falls. presentation of papilledema versus optic neuritis.
Swollen optic nerve with engorged veins on the Papillitis (Epstein-Barr virus [EBV[ infection,
optic nerve surface vasculitis, uveitis). Associated with vision loss.
512
PAPILLEDEMA IN CHilDREN
REFERENCES
I
1. Brodsky M. The swollen optic disc in childhood. In:
Determined mosdy by the cause of the papilledema. FOLLOW-UP RECOMMENDATIONS Brodsky M, ed. Pediatric neuro-ophtha!mciogy.
No spedfic treatment of optic nerve involvement Patients with shunts should have eye exams Springer, 2010.
periodically to document stability of optlt neJVe 2. Taylor D. Optic disc swelling in thildren. In: Hoyt
MEDICATION appearance and function. CS, Taylor D, eds. Pediatric ofilthalmology and
o Ventriruloperitoneal shunt for obstructive strabismus. Elsevier Saunders, 1005.
hydrocephalus or lumbope~toneal shunt Is used
PetlMt Monitoring
VIsual flelds are useful to monitor stability of the 3. Sergott RC. Hug D. Pediatric ophthalmology. In:
primarily in IIH. Nelson LB, Olitsky SE, eds.. Harley's pediatric
optic nerve. Good computerized visual fields are
- Optic nerve sheath fenestration is used as first Iine ophthalmology. Lippincott Williams & Wilkins,
difficuIt until the child is 8 or 9 years old.
at many centers for IIH. - OphthaImic exam should be dane periodically. The 2005.
Medications also may be used as first-line treatment follow-up aphtha lmic exam (along with the visual
in IIH. Acetazolamide (Diamox) (1G-t 5 mglkg field) is a front line defense for detecting ocrult
divided q.i.d.) and/or prednisone 1 mglkg andfor
diuretic (e.g., furosemide)
shunt malfunction or early recurrent asyrnptomatit t(t coDES
lnaeased ICP.
- Repeat lumbilr punctures to remove a volume of ICD9
CS F. Useful in IIH both primary and secondary. Can DIET
For IIH in obese children dietary restriction is 377.00 Papilledema, unspedfled
be curative. o
o 377.01 Papilledema associated with increased
-Cessation of medication causing IIH might be me Indicated.
intracranial pressure
primary treatment, for example, in a teenager o VItam in A toxicity may tause IIH.
being treated with retinoids for acne.
PATlENT EDUCATION
ADDITIONAL TREATMENT Recognizing signs of shunt malfunction CLINICAL PEARLS
luues for Referral - Recognizing the need for routine ophthalmology
Headaches with questionable optic nerve exam, follow-up in patients with shunts including need Babies with open fontanelles tan develop
espedally those accompanied by visual obscuration or for yea~y visual flelds and funduswplc eva luadon papilledema but may not.
reduction in visual acuity, should be seen by moptit nerve. o InldaI evaluation of child with sha lcen baby
ophthalmologist. syndrome may initially have no optic nerve swelling
PROGNOSIS whidl can then develop a few days later when '
IN-PATIENT CONSIDERATIONS Wrth normalization of ICP. the prognosis for vision is cerebraI edema worsens.
Initial Stabilization good.
Once an optic nerve develops atrophy, swelling is
Hospitalization is done as needed by neurosurgery, m
- Recurrence elevated pressure with shunt
difficult to detect.
neurology, or neum-oncology. malfunction could cause vision loss from opdc
atrophy.
Discharge Criteria
Follow-up with ophthalmology usually within a few COMPLICAnONS
weeks fallowing surgical procedure with shunting or Recurrence as a resu It of shunt maHunction or
tumor treatment. sooner if vision loss has already recurrence of any underlying cause mincreased ICP is
OCCUlTed. an uncontrolled cause IIH.m
- Follow-up sooner and ongoing if cerebral edema
is being treated with systemic steroids and
tapering or withdrawal is initiated.
513
PATTERN DYSTROPHY
John 0. Mason, Ill
Thomas A. Finley
RISKFAOORS
Genetics
Typically inherited in an autosomal dominant fashion
DESCRIPTION HISTORY
Most common genetic association is due to May be asymptomatic or have complaints of slight
Group of disorders related to macular pigment mutations in the RDSJperipherin gene located on the
depositions in the retinal pigment epithelium (RPE) decrease in vision or metamorphopsia
short arm of chromosome 6.
that are usually inherited in an autosomal dominant PHYSICAL EXAM
RDS/peripherin gene codes for asurface glycoprotein
fashion expressed in the outer segments of rods and cones. Gray, yellow, or orange pigment accumulations at
Commonly manifest in the second and third decades the level ofthe RPE in the macula
More than 90 mutations ofthe gene are known to
of life Usually symmetric but can show different pigment
exist, resulting in great phenotypic variability.
Often found in asymptomatic patients on routine patterns
eye exam GENERAL PREVENTION
Affected patients may remain asymptomatic until Genetic counseling DIAGNOSTIC TESTS & INTERPRETATION
mid- or late-adulthood with presenting symptoms of Diagnostic Procedures/Other
PATHOPHYSIOLOGY
slightly diminished visual acuity or metamorphopsia. Visual fields: normal
Various patterns of pigment deposition occur at the
Slowly progressive loss of central vision level of the retinal pigment epithelium (RPE) in the Color vision: normal until late in disease process
Dystrophies may be subdivided into several patterns macula. Dark adaptation: normal
based on clinical appearance, including the Slow progressive atrophy of the RPE and overlying Fluorescein angiography: Hypofluorescence due to
following: photo receptors pigment figure blocking. Hyperfluorescence due to
- Butterfly dystrophy May develop choroidal neovascularization RPE atrophy associated window defects
- Reticular dystrophy Electroretinogram (ERG): normal
-Adult-onset foveomacular vitelliform dystrophy ETIOLOGY Electrooculogram (EOG): may show decreased
- Fundus pulverulentus The different subdivisions of pattern dystrophy are response
- Multifocal pattern dystrophy simulating fundus phenotypic variations of the many mutations that
Fundus autofluorescence: fundus may show
flavimaculaM may occur within the RDS/peripherin gene.
increased autofluorescence in areas of accumulated
Clinical appearance is variable, may progress to COMMONLY ASSOCIATED CONDITIONS lipofuscin, however, may show decreased levels
another pattern with time, or even display different Most cases are not associated with systemic illness. once atrophy of the RPE and overlying
patterns between the two eyes of a single patient. Maternally inherited diabetes and deafness (MIDD) photoreceptors develops (l)ICl
EPIDEMIOLOGY and mitochondrial myopathy, encephalopathy, lactic
acidosis, and stroke-like episodes (M ELAS) are
lnddence
Unknown due to phenotypic variability frequently associated with pattern dystrophy.
- Males and females affected equally
Prevalence
Unknown due to phenotypic variability
514
PATTERN DYSTROPHY
Destruction of the RPE and overtjlng photoreceptor
layer with accumulation of lipofuscin within the RPE
(2)[C]
ONGOING CARE
4. Parodi M, lamno P, Cascavilla M, et al.lntravitreal
bevaclzumab for subfoveal choroidal
neovascula~zatlon associated with panem
dystrophy. Invest Ophtha/moJ Vis Sd 201 0; 51 (9):
I
,
Annual examination by ophthalmologist 4358-4361.
DIFFERENTlA.L DIAGNOSIS Low vision evaluation
Stargardt's disease
Age-related macular degeneration PATIENT EDUCATION ADDITIONAL READING
Dominant drusen http:fhwlw.nel.nlh.govfresourcesteyegene.asp
Cone dystrophy PROGNOSIS Gass J, Donald M. Srerroscopic atlas of macular
Benign concentric annular macular dystrophy Good prognosis for retaining useful vision diseases: diagnosis and treatment, Vol. 1, 4th ed.
Medication toxicity throughout life St Louis, MO: CV Mos.by, 1997:1.
Most patients retaIn readIng vision In at least one
eye through late adulthood.
. TREATMENT . CODES
COMPUCATIONS
MEDICATION Central visual loss ICD9
No liNiment available for PattMI dystrophy (PD) Choroidal neovascularizalion 362.76 Dystrophies primarily involving the retinal
ADDITlONAL TREATMENT pigment epithelium
General Measui'8S REFERENCES
Seconrjary choroidal neovascular membrane (CNVM) CLINICAL PEARLS
may be treated wtth photodynamic therapy (PDn 1. Schmitz-Valclcenberg S, Holz FG, Bird AC, et al.
(3)]C] wrsus vascular endothelial growth factor Fundus autafluorescence imaging: review and Most commonly an autosomal dominant condition
inhibitors (anti-VEGF) (4)!C] with variable visual perspectives. Retina 2008;28(3):38s-409. Variable pigment deposition at the lewl of the RPE
results 2. Zhang K. Garibaldi DC, Li Y, et al. Butterfl~haped in the macula
pattern dystrophy: a genetic, clinical, and Slowly progressive loss of central vision
lssuu for Refwtral histopathological report. Ardr Ophtha/mo/ 2002;
DeYelopment of choroidal neovascularization Monitor for development of CNVM
120(4):485-490.
l Parodi M, Uberall T, Pedlo M, et al. Photodynamic
therapy of subfoveal choroidal neovascularlzatlon
secondary to reticular pattern dystrophy; Three-year
results of an uncontrolled, prospective case series.
Am J O{iltha/ma/2006;141(6}:1 152-1154.
515
PEDIATRIC OPTIC NERVE HYPOPLASIA
Jonathan H. Salvin

Maternal prenatal care
Increased distance between fovea and temporal
optic nerve edge
Genetic counseling May have immature vascular pattern of arcades
DESCRIPTION May have foveal hypoplasia
Optic nerve hypoplasia (ON H) is a congenital optic PATHOPHYSIOLOGY
Reduced optic nerve fibers Nystagmus or strabismus in affected eye(s) may be
nerve disorder in which the optic nerve is smaller
Poorly understood; possibly related to failed present.
than normal, typically with decreased function.
- May be unilateral or bilateral differentiation of retinal ganglion cells or excessive May have associated microphthalmia
-Often associated with other CNS, in particular, axonal regression during normal optic nerve loss of percentiles on growth chart
midli~e defects (septo-optic dysplasia [SOD]. de development May have microcephaly, large anterior fontanel (de
Mors1er's syndrome) Morsier), seizures. developmental delay
ETIOLOGY
Unknown M~jority of children, especially with unilateral ONH,
EPIDEMIOLOGY w1ll be systemically well, developmentally normal,
Incidence COMMONLY ASSOCIATED CONDITIONS and with no brain or pituitary involvement.
SOD: 2-10 per 100,000 births (1,2)[C] Decreased visual acuity (ranging to light perception)
Prevalence SOD (de Morsier syndrome) (MIM #182230): ONH
associated with midline brain defects including Lab
ONH: 6.3 per 100,000 children (3)[C]
absent septum pellucidum, agenesis of corpus Initial lab tests
RISK FACTORS callosum, and hypothalamic and pituitary If abnormal neuroimaging of pituitary or evidence of
Fetal alcohol syndrome (4)[C] dysfunction. May also have cortical migration hormonal signs: thyroid functions (TSH, T3, T4), even
- Maternal drug use (psychopharmaceutical drugs, defects (e.g., cortical ectopia, pachygyria). Classic de if neonatal screen was normal, other serum hormonal
some anticonvulsants, quinine LSD, and Morsier's syndrome associated with abnormal facies, screening per endocrinology
phencyclidine reported) macrocrania, and large open anterior fontanelle Follow-up ll special considerations
- Possibly younger maternal age (5)]C] Endocrinology evaluation as indicated
Endocrinopathies including hyperprolactinemia,
- Premature/postmature birth Follow growth charts
hypothyroidism, adrenal insufficiency, diabetes
- Infants of diabetic mothers may have
insipidus, growth hormone deficiency Imaging
hemihypoplasia of the optic nerve.
Initial approach
~ DIAGNOSIS
Genetics MRl of brain and orbits to evaluate intracranial optic
Most cases sporadic nerves and for midline CNS defects (5)[C]. cortical
- Mutation in HESX.t f;plt.t) identified in SOD, migration defects, and pituitary abnormalities
autosomal dominant HISTORY
History of poor visual behavior in one or both eyes including absent pituitary stallc, or ectopic bright
- Duplications of SOX3 identified in SOD spot (displacement of the posterior pituitary up into
-There are numerous ocular (e.g., aniridia) and since birth with/without nystagmus
- Prenatal history of maternal alcohol/drug use area of pituitary stalk
systemic genetic syndromes (e.g., oculocutaneous
- Poor infant growth, neonatal jaundice, Neuroimaging is an imprecise way of determining
albinism) as well as intrauterine infections. which
hypoglycemia, or seizures suggesting pituitary axis optic nerve size or function.
may have ONH as a feature.
dysfunction Follow-up ll special considerations
PHYSICAL EXAM Follow development and neurologic signs
Complete eye exam with indirect ophthalmoscopy to Diagnostic Procedures/Other
evaluate optic nerve appearance. May have the Referral to endocrinology and neurology as indicated
appearance of the "double ring sign": a
yellow-white ring around the small disc
representing the scleral canal that is unfilled due to
reduction in optic nerve size
516
PEDIATRIC OPllC NERVE HYPOPlASIA
Patholog/GIJ Findings 3. Ahmad T. Garda-Filion P, Borchert M, et al. p

Reduced optic nerve fibers. reduced retinal ganglion ONGOING CARE Endoalnologlcal and auxologlcal abnormalities In
cell coum. normal outer retinal layers (2) young children with optic nerve hypoplasia: a
FOLLOW-UP RECOMMENDATIONS prospective study. J Pediatr 2006; 148:78-84.
DIFFEREN11AL DIAGNOSIS Ongoing ophthalmologic follow-up for visual
Optic atrophy 4. Zeki S, Dutton G. Optic nerve hypoplasia in
evaluatlon, refractive correction, amblyopia children. Br J Ophtha/mo/ 1990;74:300-304.
-High hypermetropia therapy
- Tilted optic nerve 5. Hellstrom A, Wiklund L., Svensson E. The dinical
- Low vision evaluation as indicated and morphologic spectrum of optic nerve
- Optic nerve coloboma - Endoalnology, neurology, and developmerrtal
- Pe~paplllary staphyloma/atrophy hypoplasia. J AAPOS 1999;3:212-220.
follow-up
6. Brodsky M, Glasier C. Optic nerve hypoplasia:
PATlENT EDUCATION clinical sign ifican!E of assodated !Entral nervous
. TREATMENT Focus Families: ONHISOD Information, Education system abnormalities on magnetic resonance
and Support: http://www.focusfamilies.org/ imaging.Anh Ofiltha/mo/1993;111:66-74.
MEDICATION
HormonaI replacement therapy if needed PROGNOSIS
VIsual prognosis var1able depending on optic nerve
ADDITIONAL TREATMENT function. CODES
Genal MNsutes - Prognosis poorly correlated with optic nerve
o Amblyopia treatment espec:ia lly if asymmetric appearance on physical exam or neuroimaging ICD9
bilateral or unilateral 377A3 Optic nerve hypoplasia
COMPLICAnONS
Low vision aids and support Potentially significantly deaeased visual acuity in
- Strabismus correction
- Refractive correction if indicated
affected eye(s) CLINICAL PEARLS
- Pituitary axis dysfunction
- Pro1ective eyewear if unilateral poor vision - Neurologic sequelae induding seizures and Visual prognosis is variable and cannot be predicted
Issues for Refeal developmerrtal delay on basis of dinical exam or neuroimaging.
o Endoainology referral for pituitary dysfunction Amblyopia therapy should be attempted as thIs may
Neurology referral If neurologic signs offer some improvement
Developmental iiSSI!ssment REFERENCES Prompt referral to endoainology if clinicaI or
o Genetics consultation neuroimaging signs of pituitary dysfunction
1. Kl!lberman D, Dattani MT. Genetics of sept~optic
dysplasia. PituitBfY 2007;10:393-407. Prompt MRl of brain indicated to evaluate for other
COMPLEMENTARY & ALTERNAnYE CNS abnormalities espedally in bilateral cases
THERAPIES 2. Patel L, MeNally R, Harrison E, et al. Geographical
distribution of optic ni!M! hypoplasia and Practice patterns vary regarding neuroimaging in
o None
septo-<Jptic dysplasia in Northwest England. unilateral ONH.
NOTE: there Is currently no scientific evidence to
support the use of stem cell treatment for this JPediatrics 2006;148:85-88.
disorder.
SURGERY/OntER PROCEDURES
Strabismus or nystagmus surgery as indicated
Admission Criteria
Admission rarely indicated but sudden death and
severe pituitary dysfunction may occur.
517
PEDICULOSIS
Olga A. Shif
Julie Rosenthal
GENERAL PREVENTION
Avoidance of sexual contact with infested
individuals and their personal items
DESCRIPTION Safe sexual practices HISTORY
A rare condition associated with infestation of Complaints of severe itching and burning of the lids,
Maintenance of good personal hygiene
eyelashes and eyebrows by Phrhirus pubis (crab especially at night
louse) PATHOPHYSIOLOGY Presence of eye irritation or conjunctival injection
Manifests as irritation and pruritus of eyelid margins Pubic lice are ectoparasites that feed on human Itching in and around the pubic area or other areas
P. pubis is typically transmitted by sexual intercourse blood by piercing the slcin and injecting their saliva. heavily covered with body hair (1)[C], (2)[C]
with an infested individual or by the transfer of the Symptoms are a result of a hypersensitivity reaction
to louse saliva. PHYSICAL EXAM
organism from genital area to the eye by hand, External examination of periorbital region at a slit
clothing, and bedding. ETIOLOGY lamp can demonstrate lice and nits on lids, lashes,
System(s) affected: skin/exocrine Infestation with P. pubis (pubic louse/crab) and brows unilaterally or bilaterally.
Synonym(s): Pediculosis ciliaris; Pediculosis pubis; Rounded, stubby, translucent parasite with 4 of its - Lice: 1-2 mm brownish-gray species, embedded in
Phthiriasis palpebrarum; pubic lice; crabs. 6 legs terminating in prominent crab-like claws eyelid skin
Pediatric Considerations Size 0.8--1.2 mm -Nits: tiny white-gray species, attached to the
In children, pediculosis may be an indication of sexual Life cycle= 14 days lashes or brow hair
abuse and involvement of social services and/or child Female louse lays as many as 26 ova Evidence of follicular conjunctivitis
protection agency is imperative. Nit (louse egg) incubation period = 7 days Serous crusting and blood-tinged debris may be
Nymphs (young lice) mature over 14 days. present on the lids.
EPIDEMIOLOGY Eyelid edema suggests a severe infestation.
Adolescents > Adults > Children COMMONLY ASSOCIATED CONDITIONS Skin lesions:
Male = Female Blepharoconjunctivitis - Painless blue-gray macules (maculae ceruleae)
- Men tend to have a more extensive infestation Toxicfollicular conjunctivitis may be apparent on eyelids and cheeles. These are
due to a greater distribution of body hair. Itching of the sk.in may lead to secondary bacterial thought to be breakdown products of heme
Blacles =Whites infection. affected by louse saliva.
Incidence 1/3 of individuals may have a concomitant sexually - Small erythematous papules (papular urticaria) are
Estimated 3 million new cases annually in the US. transmitted infection. found at feeding sites.
Enlargement of preauricular and submental nodes
Prevalence
may be present on exam (3)[C].
Approximately 2% of the world population
RISK FACTORS
Sexual activity, especially in adolescents Diagnostic Procedures/Other
Multiple sexual partners Examination of a louse under light microscopy can
help confirm identity of the organism if necessary.
Sexual contact with infested individuals or contact
with their clothes. towels. and bedding
Crowded conditions
Poor personal hygiene
Genetics
No genetic pattern
518
PEDICULOSIS
DIFFERENTlAL DIAGNOSIS Issues for llflfwral REFERENCES
I
Seborrheic blepha~tls All patients should undergo thorough examination
Allergic blepharitis of genital area, even If no symptoms are present. 1. Ngai JW, Yuen HK. Li FC. An unusual CBse of eye
Herpes simplex blepharitis Up to 30% of individuals witl1 pedirulosis pubis have ltchlness. Hong Kong Med J 2008;14(5):414-415.
KeratDConjunctivitis siru at least luther sl!lWillly transmitted infection. 2. Turgut B, Klln J, Catak 0, et al. Phthiriasis
Demodex folliruloru m - AdditionaI testing is highly recommended. palpebrarum mimicking lid eczema and blepharitis.
J Ophtha/mol 2009;2009:803951 .
Eyelid malignandes Additional Therapies
Orallvermectln should be considered with resistant 3. Thappa DM, Karthikeyan K. Jeevankumar B.
Eczema Phthiriasis pal pebrarum. Postgrad Med J
Rosacea infestation.
- 250 #'g/ltg orally, repeated in 2 weeks (S)[C] 2003;79(928):102.
Viral conjunctivitis 4. Leone PA. Scabies and pediculosis pubis: An
Pt&gnancy Considerations update of treatment regimens and general review.
Undane and ivermectin should not be used by Clin Infect Dis 2007;44:5153-5159.
. TREATMENT pregnant or lactating women due to small possibility 5. Burkhart CG, Burkhart CN. Onal ivermectin for
Medlanical removal of lice and nits of tDlicity and side effects [4)[A]. Phthirus pubis. JAm Acad DermiJtol
2004;5 1(6):103 7; author reply 103 7-1 038.
MEDICATION
FimLine ONGOING CARE ADDITIONAL READING
A bland ophthalmic ointment such as erythromycin.
applied ID lids and lashes twice daily for 10 days. FOLLOW-UP RECOMMENDATIONS
Patients with pubic Iice are recommended to notify Centers for Disease Control and Prevention.
Permethrin 1% cream rinse or pyretllrin with http:/lwww.cdc.gov
ptperonyl butoxlde shampoo/mousse their sexual partners who also require treatment.
National Institute of Allergy and Infectious Diseases..
- Applied to tl1e affected nonocular area and PATIENT MONITORING http:/lwww.niaid.nih.gov
washed off aftEr 10 min (4)[A] Patients should be reexamined for presence of lice/nits
after 1 week of treatment.
SacondUIIfl
Malathion 0.5% lotion PATIENT EDUCATION . CODES
- Applied to the nonocular affected area and Patients should be advised ID avoid dose bodily
washed off aftEr 8-12 h (4)[AJ contact with others until they and their partners ICD9
have been fully treated. 132.2 f'fltflirus pubis (pubic louse)
Undane 1% shampoo Condoms do not prevent transmission. 372.20 Blepharoconjunctivilis, unspecified
- Applied ID tl1e nonocular affected area and 372.39 Other con]unctMtls
washed off aftEr 4 min (4)[A] PROGNOSIS
Re-treatment may be necessary if lice or nits are
ADDITIONAL TREATMENT present at follow-up examInation.
General Meuures Patients who do not respond to initial treatment CLINICAL PEARLS
Bedding and clothing must be decontaminated or should be provided with an alternative. Patients wltl1 unilateral or perslstem blepharitis
kept away from body contact for at least 72 h. should be examined dosely for nits/lice.
- Machine wash with water at least 55 COMPUCATIONS
Secondary bacteriaI infections - If found, further examination is warranted.
- Dryer on hot cycle at least 5-1 0 min
If pedirulosis pubis is present in children,
appropriate authorities must be alerted, as this may
be a harbinger of sexual abuse.
All partners should undergo conrurrent treatment
519
PERIOCUlAR CAPIUARY HEMANGIOMA
Emily A. DeCarlo
Katherine A. Lane
Christopher B. Chambers
PATHOPHYSIOLOGY
Hamartomatous proliferations of vascular
endothelial cells
DESCRIPTION Demonstrate a distinct proliferative phase HISTORY
Infantile hemangioma (IH) preferred term characterized by actively dividing and multiplying 2% of IHs are present at birth; the majority become
Benign, high flow, vascular hamartoma endothelial cells, followed by slow involution. evident in the first few postnatal week.s.
Classified as superficial or deep Typically described by the parents as a small pink
ETIOLOGY scratch that enlarges and may become a protruding
Superficial lesions present as pink, compressible, Unk.nown, alltlough several theories exist:
circumscribed lesions with cutaneous epithelial mass
- Placenta-to-embryo embolization -This differs from a port-wine stain in
involvement. - Sequestrations of persistent omnipotent Sturge-Weber syndrome, which is present at
Deep lesions involve the subcutaneous tissue and angioblasts birth, occurs in the V1 distribution, and does not
orbit wiltl little epithelial involvement. They are - Abnomnal angiogenesis wiltl imbalance typically produce mass effect and does not blanch
darker purple and can cause proptosis. angiogenesis and angiostatic factors with applied pressure.
Synonyms: Strawberry hemangioma, strawberry
COMMONLY ASSOCIATED CONDITIONS Lesion undergoes rapid expansion after birth,
nevus, hemangioblastic hemangioma, benign
Subglottic, paratracheal, oral, and nasaiiH may continued expansion up to the first year of life and
hemangioendothelioma
coexist with orbital lesions. then begins to involute.
Pediatric Considerations - Potential for respiratory distress, asphyxiation - Usually the quick.ly expanding lesions will involute
Concern in children for development of amblyopia Amblyopia secondary to induced astigmatism. more rapidly than its slower growing counterpart
secondary to strabismus. ptosis, induced anisometropia, strabismus. and occlusion (up to - Most show early partial involution by
astigmatism 64%) 6-10 monltls
Evaluate for associated systemic disorders such as Strabismus is seen in 33% of patients. -liming of involution:
Kasabach-Merritt and PHACES. o 30% involute by age 2 years
Cutaneous changes after involution: dilated
o 60% involute by age 4 years
capillaries, skin thinning and pigmentation, residual
Pregnancy Considerations o 76% involute by age 7 years
mass
Some believe that capillary hemangiomas (CHs) could
PHACES syndrome; acronym for Posterior fossa PHYSICAL EXAM
represent placental metastasis.
brain malformations, Hemangiomas, Arterial Superficial IHs display classic strawberry red
EPIDEMIOLOGY cerebrovascular anomalies, Cardiovascular pigmentation that blanch with pressure.
lnddence anomalies, Eye anomalies, Sternal defects, or Deep hemangiomas may have a bluish hue.
The most common benign tumor in pediatric Supraumbilical abdominal raphe Lesions are soft and compressible.
population affect up to 2% of all infants. - 20% of irrfants with large cervicofacial May expand when head is held in a dependent
- F:M ratio 3: 1-2 hemangiomas have another associated anomaly position, with crying, or Valsalva
- Multiple gestations and preterm infants have a in the PHACES syndrome. IH often present at multiple levels.
higher rate (25%) of cutaneous IH (1)[C]. - Eye anomalies in 16% of patients with PHACES
- Incidence of periocular CHis approximately 1/10 (microphthalmos, Horner syndrome, retinal DIAGNOSTIC TESTS lr INTERPRETATION
that of systemic IH. vascular abnormality, optic nerve atrophy, iris Imaging
- 60% occur in the head/neck. area and 20% have hypoplasia, congenital cataracts, sclerocornea, Gadolinium-enhanced MRI demonstrates extent of
>1 IH. lens coloboma, exophthalmos, strabismus, orbital lesions.
-Account for 5.6% of all pediatric orbital tumors choroidal hemangioma, congenital 3rd nerve Black serpiginous signal voids on T1- and
- Haik et al. (2)]C] reported a case series of 101 palsy, morning glory deformity, peripapillary T2-weighted images secondary to high flow rate. T1
periorbital CHs: 33% had isolated sk.in lesions. staphyloma, and glaucoma) lesion is isointense with the brain; T2 lesion is
7% had isolated orbital lesions. the remaining Kasabach-Merritt, that is, hemangioma h)'llerintense.
60% had a combination of both superficial and thrombocytopenia syndrome Diagnostic Procedures/Other
deep components. - Large tumors sequester platelets and consume CT
Prevalence coagulation factors causing thrombocytopenia - Diffuse homogeneous soft tissue mass with
1.1-2.6% of all newborns -Lethal in 1D--37% of cases marked enhancement wiltl contrast
-Treatment includes fresh frozen plasma
RISK FACTORS B-scan ultrasound-rarely used
transfusion, supportive care. and lesion resection
Prematurity - Irregular mass blending with normal orbital
High-output cardiac failure structures. Shows variable internal reflectivity
Multiple gestation -Associated with large visceral IH with abnormal depending on the structural composition
Advanced maternal age of greater than 30 years arteriovenous shunts
Biopsy
Low birthweight - In cases of rapidly expanding orbital mass
Maternal chorionic villus sampling or amniocentesis - Immunohistochemical staining is positive for
Genetics factor VIII.
Usually sporadic Pathological Findings
Rarely, heritable infantile CHs have been described. Nonencapsulated vascular tumor
GENERAL PREVENTION Benign appearing endothelial cells with limited
There are no preventative measures. basement membrane, assuming a lobular
architecture
High concentration of mast cells, which may be a
stimulus for vessel growth
520
PERIOCULAR CAPIUARY HEMANGIOMA
DIFFERENTlAL DIAGNOSIS Topical corticosteroids (clobetasol propionate COMPLICA110NS
I
Capillary vascular malformation (port-wine stain) 0.05%) Am blyopla (dep~vatlon, anisometropic, astigmatic,
- Present at birth; flat; enlarge proportionately Timolol maleate 0.5%, topical ophltialmlc solution or strabismic) can develop In 65%
Vascular malformation (S)[C): 2 drops onto the surface of the hemangioma Strabismus in 30%
-Abnormal aggregates of capillaries, Vl!ins, arteries. with a gentle spread twice daily. Most appropriate Orbital bony distortion and/or enlargement
and lymphatics: no prolifellltive phase: normal for small hemangiomas. Skin disll!ntion, redundancy, or ulc:eration leading to
endothelial turnover rate - May be effective in very superfidaI CH demnal scarring
Symptoms ofrapld orbital growth can mimic: Now rarely used historical treatments lndude the Residual proptosis
- Metastatic neuroblastoma following:
- Rhabdomyosa rcDma - Interferon alpha-2b daily subcutaneous injection:
-Teratoma inhibits angiogenesis REFERENCES
- ~mphangioma - External beam radiation therapy: for superfiCial
- Cavernous hemangioma lesions. Slows angiogenesis and induces 1. Drolet BA, Esterty NB, Frieden IJ. Hemangiomas in
Color change and lesion enlargement v.ftll Yalsalva Involutlan. Complications Include sea rrlng, children. N Eng J Med 1999;341(3):173--181.
seen in CHs can help differentiate these tumors form cataract formation, and tissue atrop11y. 2. Haik BG, Jakobiec FA, Ellsworth RM, Jones IS.
other lesions. Capillary hemangioma of !tie lids and orbit: An
ADDmONAL 'R.EATMENT
fl TREATMENT
MEDICATION
General MHSUI'ftS
Prospective monitoring without treatment in
non-sight-lhreatenlng cases
Spontaneous resGiution occurs with time
analysis of the eli nical features and ltierapeutic
resu Its in 101 cases. Ophthalmology 1979;86(5):
760-792.
3. t.eaub!-L.abreze C, Dumas de Ia Roque E. Hubiche
T, et al. Propranolol for severe hemangiomas of
1'nlatment lndlcattons Issues for Referral infancy. N Eng J Med 2008;358(14):2649-2651.
Decision to treat periocular hemangiomas is directed Ophltialmic: 4. Lawley LP, Siegfried E, Todd JL. Propranolol
by four factors: - Monitoring development of visual acuity treatment for hemangioma of infancy: Risks and
-Location - Amblyopia occurs in up to 60% with pe~orbttaiiH. recommendations. Pedliitf DermatrJI 2009;2 6(5):
-Extent 61~14.
-Treatment often Involves spectacle correction and
- Degree of or potential for amblyopia patching of noninvolved eye. 5. Guo S, Ni N. Topical treatment for capillary
- Presence of systemic hemangiomas hemangioma of !tie eyelid using JJ-blocL:er solution.
Dermatclogic:
Sondary indications far treatment include - Epidemnal and subcutaneous hypertrophy may Arrh Ophthlllmo/2010;128(2):25 5-2 56.
bleeding, obstruction of nasopharyngeaI pathways,
ulcerate, predispose to infection or scarring.
and It!e avoidance of possible cutaneous
breakdown. Additional Therapies ADDI110NAL READING
Nd:Yag or argon laser: ltiermal injury to blood
Flm Line vessels induces involution. Argon absorbed Katowltz JA. Pediatric oculopastfc surgery. New
Propranolol, oral (3 ,4)[C[: 2 mg/kg/day divided in 3 superficially, Nd:Vag penetrates to 5-7 mm. York: Springer-Verlag, 2002:451-459.
doses. This Is a new, evolving treatment for select
May be a useful treatment of residual ecstatic Tasman W, Jaeger E. Duane's ophthalmology.
cases.
-Some advise starting at 0.5 mg/kglday for 1 week, vessels after Involution Philadelphia: Lippincott Williams & Wilkins,
ltien 1 mg/kgfday for 1 week if tolerated then 2009:Chapter 37.
maximal dose at 2 to 3 mglkg/day. If monitoring Primary exdsion
as inpatient.. can increase dose 0. 5 mglkg/day - Well-circumscribed IH may be completely excised.
daily to reach maximum dose (3)[C) - Large. vision-threatening IH may be debulked. . CODES
-Some advise maintaining the dose until the tumor - May be definitive early treatment and prevent
is resolved, then slowly taper OVI!r 3~ months to astigmatism and occlusion-related amblyopia lCDI
prevent rebound. - Intraoperative bleeding and pDStoperative 228.01 Hemangioma of skin and subcutaneous
- Possible medlanisms indude vasomnstridion, ecchymosis are com man tissue
deaeased expression of growlti factors, and 228.09 Hemangioma of other sites
111ggerlng apoptasls of capillary endoltiellal cells. 757.32 Vasc\Jiar hamartomas
- DD not use during first week of life. $ ONGOING CARE
- Monitor at onset of treatment of systemic
hypotension, transient bradycardia, CLINICAL PEARLS
Ophltialmology every 1-3 monltis if no signs of
bronchospasm, and hypoglycemia.
amblyopia, anisometropia, astlgmatlsm greater than Benign superficial or deep vascular hamartoma
- Hlgher llsk of adverse events In PHACES--cardlac
1.5 diopters, severe proptoSis with exposure
evaluation with echocardiogram is recommended. Potential for amblyopia and/or strabismus
keratopaltiy, or total pupillary ocd usion
Corticosteroids. systemic or intralesional Treat if amblyopia present or likely, systemic
Dermatology
- 80% show 80% shrinkage in H weeks hemangiomas, or large
- Systemic oral prednisolone: 1-3 mg/kgfday every htient Monitoring Treatments Include beta-blockers, steroids. or
morning for H weeks then taper over 2-4 Monitor fur development of amblyopia. surgery
weeks Monitor for response to treatment and
o Monitor every 2-4 weeks (blood pressure, treatment-related side fffects.
evaIuate for irrledion) Monitor at home for development of occlusion,
o Complications include lesion rebound strabismus, or proptosis.
(com man), steroid side effects (C ushing
syndrome, adrenal suppression, Irritability, PROGNOSIS
Insomnia) 70-9()% show near-complete resGI ution.
Cosmetic and visual recovery is excellent if
SecondUne treatment is institull!d at an appropriate time and
lntralesional steroid (e.g., betamethasone 6 mglmL careful attention is paid to !tie visual development.
and triamdnolone 40 mglml)
-Complications: retinal artery occlusion, skin
depigmentation, fat atrophy, necrosis, hematoma,
eyelid necrosis
521
PERIPHERAL CORNEAL ULCERS
Stephanie Jones Marioneaux
Immune: Consult Rheumatologist or Clinical
Immunologist with experience in corneal
DESCRIPTION HISTORY manifestations of CT disorders.
Noninfectious/immune mediated: Peripheral Red. painful eye with photophobia. Sometimes more
severe pain, possible "headache" if scleritis is Imaging
cornea is 2 mm from the limbus and is susceptible to
present Initial approach
vasculitis because of its dependency and proximity
History of rheumatoid arthritis, Wegener's Only if suspect Wegener's or polyarteritis-Chest
to the limbal vascular arcade. Compromised blood
granulomatosis, polyarteritis nodosa, and other CT X-ray
flow, immunoglobulinlcomplement deposition
create inflammation, which leads to peripheral diseases. The systemic diseases may not clinically Follow-up It special considerations
ulcerative keratitis (PUK) (1). Necrotizing scleritis can correlate with the severity of the ocular Immune/infectious follow-up frequently, daily if
occur with PUK if an aggressive vasculitis exists. manifestation. necessary, until some improvement, in the event of an
Infectious: Peripheral epithelial defect provides Infectious-Eye trau rna, eye rubbing, surgery, impending perforation.
entry of organism. lagophthalmos, possible purulent discharge Diagnostic Procedures/Other
- Bacterial: If inferiorly: possible lagophthalmos PHYSICAL EXAM Corneal scrapings for culture and sensitivity
debilitated state, e.g., Moraxella infections Immune: Intact overlying epithelium in some cases, Pathological Findings
(alcoholics) and Pseudomonas (hospitalized concentric immune infiltrates that spread Noninfectious-Peripheral inflammation that can
comatose patients) concentrically. Hypopyon rare. Microulcerative: less progress to corneal melting and perforation.
- Fungal: Similar to central ulcers than 2 clock. hours and do not progress centrally. Infectious-can progress to corneal thinning and
-Viral: Herpes simplex-May not be hypesthetic, Macroulcerative: greater than 2 clock. hours; perforation.
more refractory to treatment generally ulceration, both central and
- Herpes zoster (2) circumferential progression; undermined central DIFFERENTIAL DIAGNOSIS
edge, dense infiltration, epithelial breakdown, and Immune-Rheumatoid arthritis, Wegener's
EPIDEMIOLOGY
melting. Necrotizing scleritis may occur with corneal granulomatosis, polyarteritis. Mooren's ulcer is
lnddence diagnosis of exclusion. Herpes zoster virus (HZV)
Infectious-fungal keratitis 24% (3) perforation. If inferior may suggest a dry eye with
lagophthalmos. sclerokeratitis: limbal vasculitis and ischemia
RISK FACTORS Infectious: Epithelial defect that spreads centrally Infectious-Bacterial (staph, 8 hemolytic strep,
Connective tissue (CD diseases/vasculitides: as it worsens. Possible ring corneal infiltrates Pseudomonas, Moraxella, Neisseria gononfroeae),
Rheumatoid arthritis, Wegener's granulomatosis, surround a central infection. Some may advance to HSV. herpes zoster ophthalmicus, systemic hepatitis
polyarteritis nodosa; eye trauma(ensuing aberrant perforation if treatment delayed. May have purulent 83-84, chlamydia! (trachoma and inclusion
immune response) discharge; hypopyon. conjunctivitis)
Debilitated state-duonic lagophthalmos Viral: Peripheral dendrites that coalesce, possible
PATHOPHYSIOLOGY stromal infiltrate. If metaherpetic, may result in . TREATMENT
Systemic CT disease with deposition of immune corneal thinning.
complexes in limbal vessels that cause inflammation, DIAGNOSTIC TESTS & INTERPRETATION MEDICATION
stimulate complement release with limbal and corneal First Line
infiltration by inflammatory cells with ulceration of the
Lab
Initial lab tests Immune: Treat underlying disease. suppress
cornea and possible sclera. inflammation with tectonic support, and promote
Immune: May not be necessary if Dx of CT disease
ETIOLOGY exists. If suspect Wegener's or polyarteritis: chest healing. (Cornea p. 347) Systemic treatment by
Systemic immune-mediated limbal vasculitis that leads X-ray (CXR). U/A, BUN/Cre, antineutrophil rheumatologist-<:orticosteroids and
to peripheral corneal ulceration. Infrequently cytoplasmic antibodies (ANCAs). Possible CBC. immunosuppressive medications, e.g.,
trauma/surgery (4). Possible autoimmune response to anti-nuclear antibody (ANA), ESR, fluorescent methotrexate, cyclosporine, mycophenolate mofetil
tissue antigens. treponema! antibody absorption test (FTAabs), (CeiiCept), azathioprine, and cyclophosphamide.
reactive plasma reagin (RPR), hepatitis Cserologies, Treatment may increase lifespan (6).
COMMONLY ASSOCIATED CONDITIONS Provide tectonic support via cyanoacrylate adhesive
rheumatoid factor (RF). Wegener'slpolyarteritis Dx
Rheumatoid arthritis, Wegener's granulomatosis, application to the ulcer bed with a bandage soft
polyarteritis nodosa, CT diseases may require a lung or renal biopsy.
Infectious: Corneal scrapings for culture and contact lens. May need a peripheral lamellar
sensitivities if bacteria or fungus are suspected. keratoplasty. Treat any underlying dry eye:
preservative-free tears, punctual plugs/cautery,
Viral: Immunoassay? Polymerase chain reaction
bandage soft contact lenses with lubrication, and
(PCR) for herpes simplex virus (HSV) only if high
fluoroquinolone antibiotic coverage or partial
suspicion and all other studies are negative (5). Viral
tarsorrhaphy if partial lid closure. Avoid
cultures (Richmond viral transport medium).
corticosteroids if inferior and may be associated with
fluorescent antibody testing (FAB) (No fluorescein
a dry eye. May cause corneal melting.
stain prior to collection of sample. Fluorescein alters
results.) (5)
522
PERIPHERAL CORNEAL ULCERS
lnfl!ctious: 6. Messmer E, Foster CS. Vascu litit peripheral
I
- Bacter1al: Treat with broad-"Spectrum anUblotlc ONGOING CARE ulcerat!ve keratitis. Surv Ophthalmo/ 1999'43(5):
cOYerage: Fortified antibiotics or fluoroqulnolones. 379--396. '
Cultures and sensitivities can guide antibiotic FOLLOW-UP RECOMMENDATIONS
selection. o Immune: Cominued follow up with meumatologist.
-Fungal: Treat with broad-spectrum Carefu~ ophthalmic monitoring with tapering of ADDI110NAL READING
antifungals--pending cultureslfungaI stains or systemic me~s. May rt!quire d1ronic long-term,
low-dose maintenance as determined by the Kr.~thmer JH, Mannis MJ, Holland EJ, eds. Cornea
corneaI biopsies If necessary
rheu mamloglst. Philadelphia: Elsevier Mosby, 2005. '
-Viral: Topical amivirals. PO Acyclovir
Infectious: May need surgery if searring involves o Rapuano CJ, Heng W-J. ComeaJ iitlas & synopsis of
~'regnancy Consideratians dinica ofiJ tha/mology WU/s Eye HaspiW Series.
visual axis. Depth of scarring and location will
Immune: Notify meumatolog is! before New York: McGraw-Hill, 2003.
determine necessity for full-thickness or
immunosuppressive oral treatments are given. partial-thickness lamellar keratoplasties. ~h.er SS, San.dlnhe T, et al. Herpes simplex ker.rt!tls
SecondUne IS d1agnosed 1n Rheumatoid arthritis-related
l'afient Monitoring peripheral ulcerative keratitis. Cornea 2005;
lmmune/lnfectlous: Provide tectonic support If threat Immune: Co-management with rheu mamlogist as
of perforation. lissue glue; peripheral lamellar grafts. 24(8):101 5--1017.
determined by response to treatment
Immune: Conjunctival resection adjacem to area of o Infectious: According to response to treatment
penpheral mmeal ulceration and thinning
DIET . CODES
No restrictions
General Measures ICD9
Frequem monitoring until stabilized PATIENT EDUCATION
Signs and symptoms of peripheral keratitis for earlier 370.00 Corneal ulcer, unspectfled
Issues for Referral diagnosis 370.01 Marginal mmeal ulcer
Impending perforation o 370.02 Ring mmeal uleer
Recaldtrant to treatment with worsening visual PROGNOSIS
prognosis Depends on Involvement of visual axis and extent of
peripheral thinning--induced astigmatism CLINICAL PEARLS
COMPLEMENTARY ALTERNATIVE
THERAPIES COMPUCATIONS
Perforation, thinning, severe scarring, possible Consider the full differential diagnosis in patiems
V"rtamin C--11romotes healing with peripheral keraUUs even In patlems wltt1 known
Fish oi1----helps to no11nalize meibomian gland rea.!ITences for the immune, and herpetic causes
collagen vasc.ular diseases, I.e., bacte~al, vira1
secretions and stabilize tear fllm fungal, and immune mediated. '
SURGERY/OTHER PROCEDURES REFERENCES o Co-manage with rheumatDiogists for systemic
PeripheraI lamellar keratoplasties agents when indicated.
1. Mondino BJ. lnflammatory diseases of the
lissue glue for focal perforations Treat aggressive~ with systemic agents as the
peripheral mmea. Ophrilalmo/ogy 198895:
Conjunctival resection 463-472. ' occurrence of ulceratlve keratitis Is associated with a
shorter lifespan.
IN-PATIENT CONSIDERATIONS 2. Polack FM, Kaufman HE, Newmark E.
Immune-mediated PUKdoes not always appear
Initial Stabilization Keratomymsis: Medical and surgical treatment.
concomitantly with the systemic exacerbation of the
Infectious: Begin appropriate therapy immediately Arch Ophrilalmo/ 1971;85:410--416.
autoimmune disease. Strong clinicalsuspidon,
upon arrivalto the hospital. l Mondlno BJ, Brown Sl, Mondzelewskl JP. Pe~pheral rather than evidence of systemic exacerbation,
corneal uleers with herpes zoster oplnhalmlcus. Am should direct you to request meumatologlc
Admission Ctff.wiiJ J O/ilthalmo/1978;86:611-1i14.
lnabilily to administer necessary frequent topical assistance in initiating treatmem with
4. Akpek E, Demetriades A. Gottsd1 J. Peripheral immunosuppressive treatment
medications and requiring IV meds
ulcerative keratitis after dear corneal cataract
IV Fluids extraction. J Cataract Refract Surg 200026(9):
Defer to internist:Alospitalist 1424-1427. '
Nursing 5. Tuli 55. Herpetic comeal infections. f()(,a/ Points
Instruct re: proper drop instillation AAO 2008;XXVI(8). '
Dlschal'fle Crlterla
Stabilization of ulceration
523
PERSISTENT FETAL VASCUlATURE [PFV]
Raza M. Shah
As reported by Cloquet in 181 8, it occurs because of
a failure of the primary vitreous and the hyaloid
Lab
None general~ necessary
DESCRIPTION vascular system to regress (3)[C].
Pathologic entity resulting from failure of the Imaging
The primary vitreous forms around the 7th week of Bscan ultrasonography can show a stalk from the
primary vitreous to regress life and begins involuting by 20 weeks. These
- Persistence and/or hypertrophy of the vessels posterior pole anteriorly to the lens, microphthalmia
vessels should complete~ regress by the time of and retinal detachment.
within the primary vitreous can result new vessels birth. Persistence of these vessels can result in PFV
in the posterior segment. CT scanning also can demonstrate the PFV
in both the anterior and/or posterior chambers.
membrane.
-There are three forms (1)[B]: ETIOLOGY The absence of calcification on CT scanning is an
o Anterior: there is a retrolental opacity, cataract, Unknown important point in differentiating PFV from
or elongation of the ciliary processes (2)[C]. retinoblastoma, as calcification usually can be seen
o Posterior: optic disc hypoplasia, a stalk with retinoblastoma.
None at this time
emanating from the optic disc. a retinal fold, MRl is superior to CT in differentiating noncalcified
retinal dysplasia, retinal detachment Bilateral PFV with retinal dysplasia can be
indistinguishable from Norrie's disease, a condition retinoblastoma from PFV.
o Combined: Both anterior and posterior
in which children can also have hearing loss or other Visual evoked potential testing is helpful. If a
manifestations response is present, surgery for retinal detachment
CNS problems.
Pediatric Considerations repair might be worthwhile.
~ DIAGNOSIS
Persistent hyperplastic primary vitreous (PHPV), also Diagnostic Procedures/Other
known as persistent fetal vasculature (PFV), presents
during infancy and is a failure of the primary vitreous PFV in the hyaloid canal
HISTORY
and its vascular system to regress normally. Infants
Leukocoria in an infant DIFFERENTIAL DIAGNOSIS
typically present with microphthalmia, cataracts, and
The involved eye is often smaller than the other eye, Retinoblastoma
retinal traction or dysplasia.
and posterior lens opacity is present. Congenital cataract
EPIDEMIOLOGY
PHYSICAL EXAM Norrie disease
PFV is very rare.
No systemic changes are associated. Wal ker-Warburg syndrome
RISK FACTORS It is most often unilateral. Trisomy
No risk. factors have been isolated at this point. Cataract, posterior lens opacity, elongated ciliary If total retinal detachment and retrolental fibrous
Genetics process, and/or a stalk that extends from the lens tissues are present, familial exudative retinopathy,
Most cases are sporadic. posterior to the optic disc. incontinentia pigmenti, and retinopathy of
It can be inherited as in an autosomal dominant as The lens itself is clear anteriorly with an opaque prematurity should be included.
well as an autosomal recessive (AR) fashion. In one posterior surface.
family with AR PFV. a gene was isolated to The pupil may be difficult to dilate because of the
10q1H21. anterior tunica vasculosa lentis (TVL).
PAX6 gene mutations were detected recently in Microphthalmia
patients with optic nerve malformations that
included PFV.
524
PERSISTENT FETAL YASCULATlJRE (PFV)
COMPUCATlONS
I
. TREATMENT Glaucoma . CODES
Hemorrhage
SURGERY/OTHER PROCEDURES Enudeation ICD9
The decision ID perform surgery may be based on 743.51 V'rtreous anomalies, congenital
the severity of PFV and whether or nat the fundus
can be v1sua llzed, the presence or absence of retinal REFERENCES
detachment. and the degree of cataract. CLINICAL PEARLS
1. Pollard ZF. Persistent hyperplastic primary vitreous:
Surgery often offers a greater chance of obtaining
diagnosis. treatment and results. Trans Am t.1 ust be dlfferemlated from retinoblastoma
better visual acuity.
Ophtha/mol Soc 1997;95:487-S49. Treatment is typically surgical dearing the visual axis
Patients should be concomitant~ treal!!d for
2. Castillo M, Wallace D. Mukl1e~i S. Persistent and relieving anl!!rior ID posterior traction.
ambtjopia.
hyperplastic p~mary vitreous lnvoMng the anterior Anisometropic amblyopia often limits visual
file. Am 1 Neuropatho/1997; 18(8):1 526-1528. recovery.
$ ONGOING CARE 3. Gulilli N, Eagle RC Jr, Tasman W. Unopelilted eyes Retinal dysplasia is found in varying amounts in PFV
with persistent fetal vasculature. Trans Am and can limit visual function and rehabilitation.
FOLLOW-UP RECOM MENDA110NS Ophtha/mol Soc 2003;1 01:59-64.
Patients will need monitoring regardless of whether
obseNation or surgical inl!!rvention is chosen.
PROGNOSIS
ADDITIONAL READING
Prognosis depends on the extent of the membrane Capone A. Hartnett M, Trese M. Persistent fetal
as well as the ~ of PFV. vascutawre syndrome (perslsterrt hyperplastic
In purely anterior PFY. a good visual outcome is primary vitreous). Pediatlk retina: Med"JCal and
achieved when the visual axis is clear and amblyopia surfiul approaches. Philadelphia: Lippincott
therapy are successful. Williams & Wilkins, 2005.
Treatment of posterior and combined
anteroposte~or PFV has a less favorable outcome,
with most patients attaining hand mation or light
perception.
525
PERSISTENT HYPERPLASTIC VITREOUS/PERSISTENT FOAL
VASCULATURE
Jeffrey P. 8/ice
~ BASICS X-linked familial exudative vitreoretinopathy

(XL-FEVR), an exudative proliferative vasculopathy
characterized by peripheral retinal vascular
Anterior segment findings
-Microcornea
- Corneal clouding
DESCRIPTION anomalies with or without fibrotic changes and - Persistent pupillary membrane
Persistent fetal vasculature (PFV) is usually a retinal detachment. Phenotypes can vary within - lridohyaloid blood vessels can lead to dragged
nonheritable set of vascular malformations in families. ciliary processes, ectropion uvea, and lens
systemically normal infants. Retinal dysplasia with changes like PFV can be subluxation.
Usually unilateral associated Wal ker-Warburg syndrome, an - Persistence of the posterior fetal fibrovascular
Range of anterior segment and posterior segment autosomal recessive disorder, and with multiple sheath and retrolental membrane
complications possible anomalies in trisomy 13. - Lens swelling and narrow angle
Manifestations can range from mild to severe. - Mittendorf's dot
GENERAL PREVENTION
Rare, serious congenital malformation syndromes Posterior segment findings
None
affecting both eyes, the brain, and other parts of the -Vitreous opacities---femnants of regressed vessels
body can also be associated with PFV. PATHOPHYSIOLOGY - Persistent hyaloid artery
Persistent hyperplastic primary vitreous (PHPV} is a Abnormal regression and persistence of normal - Bergmeister's papilla with the potential for
term describing a subset of clinical findings seen in embryologic vasculature alters the normal anatomy of anomalous optic nerve and macular traction
the retrolental space. the cornea, lens, angle, iris, retina, and/or optic nerve. - Retinal detachment and folds
- Macular dysplasia; absence of the foveal pit
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS
- Optic nerve dysplasia or hypoplasia
Uncommon See Genetics
RISK FACTORS
Most cases are sporadic and not genetically linked. ~ DIAGNOSIS Imaging
B-scan ultrasonography-can be used to identify
Rare associations exist (see below). and document persistent vascular anatomy
HISTORY
Genetia Present at birth tractional retinal abnormalities
NDP-related retinopathies are characterized by a Presents in infancy commonly as leumcoria CT-Aithough tractional retinal changes and
spectrum of fibrous and vascular changes of the abnormal ocular anatomy may be visible. excluding
retina at birth that progress through childhood or PHYSICAL EXAM the presence of intraocular calcium is most useful
adolescence to cause varying degrees of visual Findings vary from case to case. Not all findings are when retinoblastoma is a possibility.
impairment. present in all cases. An accumulation of findings make
MRI-Can be useful in clarifying CT findings or
The most severe phenotype is Norrie's disease (NO), the case for diagnosis.
identifying CNS disease in associated syndromes or
characterized by grayish-yellow fibrovascular masses Microphthalmia disease
(pseudogliomas). Congenital blindness is almost
always present. Developmental delay/mental Fluorescein angiography may be useful in identifying
retardation, behavioral abnormalities, or the presence of persistent perfused fetal vessels.
psychotic-like features can be present. The majority
develop sensorineural hearing loss.
526
PERSimNT HYPERPLASTIC YITREOUSIPERSISTENT FfTAL VASCULATURE
Pathological Findings ADDITIONAL READING
I
Consistent with the spectrum of dinical disease ONGOING CARE
o Goldberg MF. Lecture.AmJ Ophtha/mo/1997;
DIFFEREN11AL DIAGNOSIS FOLLOW-UP RECOMMENDATIONS 124(5):587-626.
Retinoblastoma o Ophthalmologist o Gulati N. Eagle RC Jr, Tasman W. Unoperated eyes
Stage V retinopathy of prematurity o Coordinated care with pediatric ophtha lrnologist with persistent fetal vasculature. Trans Am
ND and vitreoretinal surgeon may also be necessary. Ophtha/mol Soc 2003;101:59-64; discussion
Trisomy 13 o Amblyopia and 1ts prevention Is a concern In any 64-65.
Congenital subluxation of the lens case with unilateral disease and vision in the o Sims ICB. NDP-related retinopathies. In:
XL-FEVR affected eye. GeneRt'riews [Internet]. Pagon RA. Bird TC. Dolan
CR. Stephens K. eds. Seattle. WA) University of
fl TREATMENT
PATIENT EDUCATION
o Monocular patients should be counseled to wear
protective eyewear.
Washington, Seattle, 20()9.
ADDITIONAL TREATMENT o Families with rare hereditary forms should receive

General Meuutes genetic oou nseling. . CODES
Mild cases may require no treatment PROGNOSIS
Severe cases can be so severely affected that no ICD9
o The prognosis is variable and depends on the 743.51 Vrtreous anomalies. congenital
surgicaI treatment is reasonable. severity of the disease. Those patlents wlttl milder
Patlents should be counseled about protective findings may not warrant any surgical Intervention.
eyewear. o Eyes with less severe disease remain at risj( for CLINICAL PEARLS
SURGERY/OTHER PROCEDURES amblyopia.
The decision to perform surgery should be based on o More severe cases may hlM! sud1 advance disease
Usual~ unilateral
the risks. benefits, and visual prognosis as related to that no treatment is effective. Microphthalmia, microcornea, cataract, and
the severity of the anatomical abnormalities. o Patients with good vision and moderate disease are
dragging of dliary processes are dassic findings.
at risk for progression and complications as outlined o SUrgical choices and prognosis are Influenced by
The surgical approach may require surgical expenise
in both the anterior and posterior segments. below. status of retinal dbease.
Surgery should be considered for the following Amblyopia threatens even the best surgical
COMPUCATIONS outcomes.
complications in eyes with some vision: CorneaI clouding
- Recurrent or severe vitreous hemorrhage The lliews expressed in this artide are those of the
o Progression of cataract
- Progressive retinal detachment author and do not necessa~ ly reflect the official policy
- Angle closure and ocular hypertension Glaucoma or position of the Depanment of the Navy, Army,
o Recurrent vitreous hemorrhage Department of Defense, nor the U.S. Government I
-Anterior displacement of the lens or subluxation
of the lens Progression of retinal traction and detad1ment certify that all individuals who qualify as authors hiM!
Amblyopia been listed: each has panidpated in the conception
and design of this wortc, the ana lysis of data (when
applicable), the writing of the dOOJment, and the
approval of the submission of this version; that the
document represents valid work; that if we used
information derived from another source. we obtained
all necessary approvals to use it and made appropriate
acknowledgements in the document; and that ead1
takes public responsibility for lt.
527
PEIERS ANOMALY
Tak Yee Tania Tai
Alex V. Levin
~ BASICS
COMMONLY ASSOCIATED CONDITIONS Follow-up a special considerations
Ophthalmologic problems (1 )[C] Karyotype, microarray, and molecular genetic testing
Glaucoma occurs in 30-70% for 83GALn gene when Peters plus syndrome
DESCRIPTION Microphthalmia occurs in 25-50% suspected.
Peters anomaly is characterized by a congenital Iris abnormalities-aniridia, abnormal Molecular genetic studies may be performed for
corneal opacity associated with a posterior defect in ~scularization, iris coloboma, polycoria, isolated Peters anomaly.
Descemet's membrane and endothelium. Although
111docorneal adhesions. microcoria Imaging
usually central, the opacity may be eccentric.
Ptosis Initial approach
Variable degrees of iris and lenticular adherence to
Cataract Imaging may be performed as necessary for findings
the posterior cornea may be present.
Posterior pole abnormalities--<horioretinal on physical examination.
May be isolated or associated with other ocular - Ocular ultrasound for evaluation of ocular
colo!lDma, staphyloma, retinal dysplasia/dystrophy,
malformations or systemic syndromes. structures if no view of posterior segment
persistent ocular fetal vasculature, optic nerve
Peters plus syndrome describes the concurrence of hypoplasia, foveal hypoplasia/aplasia, macular - Ultrasound biomicroscopy or optical coherence
Peters anomaly, and short stature, with or without pigment epitheliopathy, macular "coloboma" tomography can identify posterior corneal defect
abnonmal ears, and occasionally, cleft lip and palate. - Echocardiography for congenital heart
Systemic malformations occur in 60% of cases
EPIDEMIOLOGY (l)[C]. malfonmations when indicated
Incidence Mental retardation -Abdominal ultrasound examination for renal
Peters anomaly is a rare disease affecting less than CNS malformations anomalies when indicated
200,000 people in the US. - Cranial imaging for hydrocephalus or structural
Craniofacial abnormalities
brain abnormalities where indicated
RISK FACTORS Microcephaly - Skeletal suiVey for Peters plus
Genetic predisposition Seizure disorder Follow-up a special considerations
Maternal alcohol intalce during pregnancy has been Autism Serial plotting of growth and development
reported as a feature of fetal alcohol syndrome Congenital heart disease Intense vision follow-up is required to screen for
(1)[C]. Genitourinary malformations amblyopia and treat accordingly.
Genetics Slceletal abnormalities (Peters plus syndrome) Suggest examination to rule out glaucoma every
Most cases are sporadic, but both autosomal Ear defects 6 months as a minimum even if examination under
recessive and dominant modes of inheritance have Cleft lip and palate anesthesia required.
been reported. Pathological Findings
Isolated Peters anomaly has been reported with
mutations in the following genes: PAX6 (autosomal ~ DIAGNOSIS Type 1-<haracterized by central or paracentral
corneal opacity with iris strands that arise from the
dominant), CYP181 (autosomal dominant), iris collarette and attach to the cornea. Usually
HISTORY
PITX2/RJEG1 (autosomal dominant), PITX3, FOXE3 unilateral.
Course of pregnancy and birth history
(autosomal recessive), NDP (X-Iinlced recessive), and
Family history Type 2-includes lens adherence to the posterior
FOXC1 (autosomal dominant) (2)[C].
Additional directed questions are necessary for cornea, with or without cataract histopathology
Reported chromosomal anomalies include ring shows iris stromal fibers attaching to the posterior
chromosome 20, trisomy 13, and partial deletion of recognition and treatment of associated conditions
(see Commonly Associated Conditions"). cornea with an absent Descemet's membrane and
11q (3)[C]. endothelium Bowman's layer may appear thiclcened.
Mutations in 83GALTL (13q12.3--13.1) can be PHYSICAL EXAM
associated with Peters plus syndrome, which is Complete ophthalmological examination with DIFFERENTIAL DIAGNOSIS
inherited in an autosomal recessive manner (2)[C]. attention to posterior surface of cornea and clarity Sclerocornea
of visual axis Birth trauma from forceps
GENERAL PREVENTION
Complete neurological and physical exam is Intrauterine !ceratitis
Genetic counseling and molecular genetic testing
necessary to assess for associated conditions (see Mucopolysaccharidoses
PATHOPHYSIOLOGY Commonly Associated Conditions). Congenital hereditary endothelial/stromal dystrophy
Several theories have been implicated: Corneal dermoid
- Failure of lens placode invagination from surface DIAGNOSTIC TESTS & INTERPRETATION
Lab Herpes simplex keratitis
ectoderm during weeks 4-7 of gestation
Initial lab tests Congenital glaucoma
- Misdirected neural crest migration and abnormal
neural crest differentiation (1 ){C] Peters anomaly is a clinical diagnosis. Amniocentesis needle corneal perforation
Laboratory studies may be warranted depending on Covert or overt postnatal trauma
EnOLOGY the physical examination.
Drug-induced and infectious (congenital -Growth hormone stimulation testing for possibility
cytomegalovirus) etiologies have been implicated, of a treatable cause of growth delay
although most cases appear to be genetic or -Thyroid function testing for congen itaI
idiopathic (1)[C]. hypothyroidism
- Urine and lens for cytomegalovirus, serum titers
528
PETERS ANOMALY
Glaucoma surgery REFERENCES
I
. TREATMENT - Multiple procedures and ad]unctlve medical
therapy are often required. 1. Yang LLH, Lambert SR. Peters anomaly-A synopsis
MEDICATION - Trabecu lotomy or goniatomy may be diffirult of surgical management and visual outcome.
Medical treatment of glauroma technlca lly and have hlgh fallu re rates due to O,Jithalmo/ Clin NCNthAm 2001;14(3):467-477.
maldevelopment of drainage structures. 2. Gudrun A, Kriek M, l..e5nik Oberstein SAl. Peter's
ADDITIONAL TREATMENT - Trabeculectomy and tube implantation may be plus syndrome. http:/tv.ww.ndll.nlm.nlh.go/
General Measures preferred. mbk1464.
The goal of ophthalmological treatment is to maximize - Cydodestructlve procedures as last option 3. Traboulsi El, Maumenee IH. Peters anomaly and
vision and minimize amblyopia. lenseciDmylvitrectomy associated rongenltal maHormatlons. Arch
Issues for Reffmilf - May be indicated for patients with cataract O,Jithalmo/ 1992; 11 0:1739-1742.
Infant Development Program--appropriate - Lens may spontaneously come out at penetrating 4. Yang Ll.H, Lam bert SR, ~nn MJ, et al. Long-term
developmental assessment may be helpful if keratoplasty. results of corneal graft sunrival in infants and
indicated. children with Peters anornaly. Ophthalmology
Genetlc ronsu ltatlon and cou nsellng4elpfullf a 1999;106(4):833-848.
heritable disorder is suspected ONGOING CARE
Pediatric aphthalmologist-management of FOLLOW-UP RECOMMENDATIONS
am blyopla and refractive error, cataract, and Regular follow-up care for visuaI rehabilitation,
ADDITIONAL READING
glaucoma corneal graft management. and glaucoma Heon E, Bar.soum-Homsy M, Cervette L, et al. Peters
Cornea speda list-keratoplasty may be indicated. management as needed anomaly. Ophthalmic Paediatr Genet 1992; 13(2):
Low-vision speclalrst Regular follow-up with a pedlatrldan to manage the 137-143.
Endoainologist---if endoaine problems are patient's other congenital abnormalities as
suspected necessary Q Se1 Also {Topic, Alprllllm, Electronic
Additional Ther11pifls l'ilfifmt llllonitoring ~ Mlldia Element)
Additiona I therapies may be performed as indicated Patient monitoring as necessary for ophthalmological
for the associated conditions of Peters anomaly. and assodated systemic issues. OMIM:
- http:llwww.ncbi.nlm.nih.gov/omimi6D4229
SURGERY/OTliER PROCEDURES PATIENT EDUCATION - http://www.ncbi.nlm.nih.gov/omim/261540
The indication for surgery in patients with Peters www.pgda.org (Pediatric Glaucoma and Cataract
anomaly is controversial--considerations indude Family Assodation)
whether monocular or binow lar, age, and visual www.raredlseases.org.t (National Organization for CODES
prognosis (1 )[C]. Rare Diseases)
Keratoplasty www.petersanornaly.orgf (Peters Anomaly Support ICD9
- Optical iridectomy (sector) has been used as an Group) 743.44 Specified congenital anomalies of anterior
attematlve to penetratl ng keratoplasty.
PROGNOSIS chamber, chamber angle, and related s1ructures
- The degree of visuaI deprivation depends on the
size and location of the ocular opacity. System k: prognosis depends on associated systemic
-When the opacity Is smal~ gradual dearlng may problems.
After penetrating keratoplasty: CLINICAL PEARLS
occur.
- When the opacity is dense. and, especially if - "'20% of eyes achieve aruities of 201200 or Peters anomaly is a congenital malformatioo that
bilateral, penetrating keratoplasty is likely better. may be associated with glaucoma, cataract, and
Indicated. - ~40% of eyes achieve light perception (LP) or no other ocular malformations.
- This should be considered at age 1~ months. light perception (NLP) vision. Peters plus syndrome is characterized by skeletal
One must balance high failure rate and technical -The remaining eyes achieve 201300 to hand dysplasia.
difficulties 1f too young versus high ambtjopla rate motion vision (1)[C].
Peters anomaly, especially wl1 en bilateraI, may be
if too old. Prognosis is more promising in bilateral cases. associated with other systemic abnormalities.
-The probability of first grafts remaining clear for COMPLICATIONS Visual prognosis is guarded and long-term follow-up
t 0 or more years was 35% according to one study Amblyopia and deaeased vision or blindness from is required.
(4)[C]. glaucoma
529
PHACOANAPHYIACTIC GlAUCOMA
Rachel M. Niknam
Histological examination of the surgically removed
lens material
DESCRIPTION HISTORY Microscopic examination of aqueous and/or vitreous
A zonular granulomatous-type of inflammation that Prior cataract surgery, lens trauma, or rarely
centers on retained lens material in the involved eye or spontaneous rupture of tf1e lens capsule with Pathological Findings
in the fellow eye. prolonged period of low-level persistent Polymorphonuclear leukocytes, epitf1elioid cells, and
inflammation. giant cells in a zonular pattern surrounding a portion
EPIDEMIOLOGY of lens material
Seen in eyes with traumatic disruption of the lens or PHYSICAL EXAM
that have undergone extracapsular cataract Inflammation with associated photophobia and DIFFERENTIAL DIAGNOSIS
extraction ciliary's injection Phacolytic glaucoma
Usually seen in the 6th or 7th decade coinciding Anterior chamber cell and flare Lens particle glaucoma
witf1 the average age of cataract extraction The aqueous may contain lens fragments. Toxic reaction to materials introduced at surgery
Slightly higher male prevalence Often mutton-fat lceratic precipitates and posterior Exacerbation of prior uveitis
synechia are present. Infection with low virulence organisms, that is,
GENERAL PREVENTION propionibacterium
Meticulous removal of lens material during cataract DIAGNOSTIC TESTS & INTERPRETATION
Sympathetic ophthalmia
extraction Lab
PATHOPHYSIOLOGY Initial lab tests
Disruption of the lens capsule, either traumatic or Aqueous or vitreous aspiration for histologic . TREATMENT
surgical examination
Imaging MEDICATION
A period of time, wherein there is a sensitization to
lens protein that occurs Initial approach First Line
B-scan ultrasound to look for retained lens Topical steroid therapy to reduce inflammation
A chronic and persistent inflammation then ensues
fragments Antiglaucoma therapy to control lOP: with
EnOLOGY Aggressive control of inflammation and intraocular hyp~rosmotics, topical carbonic anhydrase inhibitors,
Autologous lens protein has been shown to be pressure (lOP) topical beta-bloclcers and alpha2 agonists.
antigenic.
Follow-up & special considerations ADDITIONAL TREATMENT
Sensitization occurs only when there is a violation of
Frequent follow-up until definitive treatment is Issues for Refe"al
the lens capsule.
implemented, which involves removal of retained lens If the retained lens material or the traumatic
COMMONLY ASSOCIATED CONDITIONS material disruption of the lens capsule involves the anterior
Glaucoma is related to the accumulation of segment then the anterior segment surgeon should
leukocytes, epithelioid, and giant cells in the remove the inciting lens material.
trabecular meshwork.. Often the retained lens material is in the vitreous
Lens protein and lens particles may also be found in and consultation or referral to a retina surgeon for
the trabecular meshwork. and may additionally appropriate removal is suggested.
account for the associated glaucoma.
530
PHACDANAPHYLAcnC GLAUCOMA
Additional Tllfllilplfls ADDI110NAL READING
I
0nee the lens material Is removed, the uveitis Is ONGOING CARE Allingham RR, Damji KF, Freedman S, et aI. Shields
usually easier to control and stl!rold therapy should
be tapered. FOLLOW-UP RECOMMENDATIONS textbook ofglauroma, 5th ed. 2004, Philadelphia:
lOP control must be monitored as there may be Very close follow-up during lite initial postopetative Lippincott Williams & Wilkins.
secondary angle closure glaucoma due to synedlia period is warll!nted to manage the uveitis and 10P. Marak. GE Jr. Phacoanaphylactic endophlamitis. Surv
formation. htient NlonitDring O!ilthalmal 1992;36:5325-5340.
Once the lOP and uveitis are controlled lifelong lOP Epstein DL Diagn0$is and management of
SURGERY/OTHER PROCEDURES lens-Induced glaucoma. Am Acad Ophtha/mol
SurglcaI removal of retained lens mate~a I monltDI1ng and treatment are necessary for the
secondary open- or closed-angle glaucoma. I982;89(3):227-230.
If lite lOP remains elevated after surgical removal of
lens and if either lite secondary open-angle or angle 3--6 month intervals !~~!pending on the severity of
closure glaucoma is uncontrolled then glaucoma disease
filtl!ring surgery is indicatl!d.
. CODES
PATIENT EDUCATION
IN-PATIENT CONSIDERATIONS The physiology of glaucoma and the importance of ICD9
adherence ID medic:ation should be discussed. 365.59 Glaucoma assodatl!d with other lens
lnhlal Stabilization
Admission and intravenous manniiDI may be necessary PROGNOSIS disorders
ID control lOP until definitive surgery. The prognosis depends on the sevErity of the disease 365.62 Glaucoma assodated with ocular
upon presentation and the prompt treatment of the Inflammations
DischatV Criteria uveitis and glaucoma.
Once the lOP is controlled the patient may be
discharged with close follow-up appointments. COMPUCATIONS
Vision loss secondary to glaucoma or uveitis, that is, CLINICAL PEARLS
cystoid macular edema Suspect in patients with persistl!nt low level uveitis
Surgical compllcat!on of vltrectomy or additional after cataract extraction
anterior segment removal of lens material
Surgkal complications of glaucoma filtl!ring surge~)'
531
PHACOLYTIC GlAUCOMA
Rachel M. Niknam
Needle aspirate of the anterior chamber fluid and
examination of the sample for macrophages laden
DESCRIPTION HISTORY with eosinophilic lenticular material.
Sudden onset of open-angle glaucoma secondary to Hypermature cataract with elevated lOP and white
leakage of soluble lens proteins from an intact mature material in ltle anterior chamber DIFFERENTIAL DIAGNOSIS
cataractous lens. History of gradually diminishing vision aver months Phacoanaphylactic glaucoma
or years and recent red, painful eye lens particle glaucoma
EPIDEMIOLOGY Exacerbation of prior uveitis
More common in underdeveloped countries where PHYSICAL EXAM
Endaphthalmitis
patients wiltl cataract tend to present late. Usually unilateral
Cataract either mature (white) or hypermature
(liquid cortex and free-floating nucleus)
RISK FACTORS
Redness, pain
Elevated lOP
Diffuse corneal edema
Intense cell and flare in the anterior chamber
rJ TREATMENT
MEDICATION
Elderly patient with advanced cataract
Iridescent or hyperrefringent particles in both lens First Line
GENERAL PREVENTION and aqueous Topical steroid therapy to reduce inflammation
Removal of cataract before it has advanced or Antiglaucoma therapy to control lOP: with
White material aggregates in the anterior chamber.
liquefaction has occurred. hyp~rosmotics, topical carbonic anhydrase inhibitors,
In the presence of a mature cataract
PATHOPHYSIOLOGY Keratic precipitates are not seen. top1cal beta-blockers, and alpha-2 agonists
Macrophagic response to heavy molecular weight Fellow eye usually has a deep chamber and a ADDITIONAL TREATMENT
(H MW) lens proteins that have leaked from a mature cataract. Issues for Referral
hypermature cataract Retina consultation and referral may be necessary, if
Obstruction of ltle trabecular meshwork with HMW DIAGNOSTIC TESTS & INTERPRETATION
Lab ltlere is associated cystoid macular edema related to
proteins that have leaked from the mature cataract ltle uveitis.
Macrophages distended with engulfed lens material Initial lab tests
are found in the trabecular meshwork; however, it is Aqueous aspiration far histologic examination Additional Therapies
now largely believed that the HMW proteins are the Once the cataract is removed, ltle uveitis is usually
Imaging
cause of a high intraocular pressure (lOP). The easier to control and steroid ltlerapy should be
Initial approach
macrophagic response is associated but nat tapered.
B-scan ultrasound to ensure that there is no ather
causative of the glaucoma. concomitant ocular pathology lOP must be monitored and treatment instituted if
open-angle glaucoma persists.
EnOLOGY Aggressive control of inflammation and lOP
Mature cataract or hypermature cataract, which is Follow-up a special considerations
leaking HMW lens protein through an intact capsule. Frequent fallow-up until definitive treatment is
implemented, which involves removal of the inciting
COMMONLY ASSOCIATED CONDITIONS cataract.
Uveitis is associated with the leakage of lens protein.
Open-angle glaucoma is related to ltle obstruction
of the trabecular meshwork by HMW lens proteins.
532
PHACDLmC GLAUCOMA
SURGERY/OTHER PROCEDURES ADDI110NAL READING
I
SurglcaI removal of the Indtlng cataract.. the source ONGOING CARE Allingham RR, Damji KF, Freedman S, et aI. Shields
of the HMW proteins. and wash out of
proteinaceous materiaI from the amerior dtamber FOLLOW-UP RECOMMENDATIONS textbook ofglauroma, 5th Ed. Philadelphia:
Most often cataract removaI is rurativl! and no Very close follow-up during the initial postopetative Lippincott Williams & Wilkins, 2004.
further surgery is needed. period is warll!nted to manage the uveitis and 10P. Ellam JP, Obstbaum SA. Lens-induced glaucoma.
If the lOP remainsell!vated after surgical remDVal of htient NlonitDring O!ilthalmalogy I 992;81 :317-338.
the cataract and open-angle glaucoma Is Once the lOP and uveitis are controlled lifelong lOP Epstein DL Diagn0$is and management of
uncontrolled then glaucoma filtering surgery may be moniiDI1ng and treatmem are necessary for lens-Induced glaucoma. Am Acad Ophtha/mol
indicated. open-angle glaucoma. 1982;89(3):227-230.
IN-PATIENT CONSIDERATIONS 3-6-month intervals depending on the si!VI!rity of
disease
lnltfal Stabilization . CODES
Admission and Intravenous mannitol may be necessary PATIENT EDUCATION
to control lOP until defln1t1ve surgery. The physiology of glaucoma and the importance of ICD9
Dlschalfle Criteria adherence to medication should be diSOJSSed. 364.3 Unspedf!ed irtdocyditis
Once the lOP is controlled, the patiem may be PROGNOSIS 365. 11 Open-angle glaucoma
discharged with close follow-up appointments. Eyes with poor vision, even light perception without 365.51 Phacolytlc glaucoma
projection, often obtain good vision after treatment.
The prognosis depends on the prompt treatment of
the uveitis and glaucoma. CLINICAL PEARLS
COMPUCATlONS Suspect in patients with mature. white, or liquefied
Vision loss secondary to glaucoma or uveitis, that is. cataract
cystoid macular edema
Surgical compllcatlons of complex cataract surgery
and/or glaU(oma filtering surgery
533
PHACOMORPHIC GlAUCOMA
Rachel M. Niknam
~ BASICS ETIOLOGY
Mature cataract

Angle closure
Elevated lOP
Traumatic cataract Cell and flare in the anterior chamber
DESCRIPTION Lens swelling from systemic medications Fellow eye usually has a somewhat deeper chamber
Swelling of a cataractous lens causing a pupillary -Diuretics and a mature cataract as well
block mechanism of angle closure. - Hemorrhagic fever with renal syndrome
EPIDEMIOLOGY Miotics constrict the pupil resulting in zonule laxity
Elderly patient with advanced cataract and forward movement of the lens. Imaging
B-scan ultrasound to ensure ltlat there is no mass or
More common in underdeveloped countries where COMMONLY ASSOCIATED CONDITIONS other ocular pathology posterior to the lens.
patients wiltl cataract tend to present late Hyperopia Initial approach
RISK FACTORS Miotics-increase zonular laxity causing forward Aggressive control of inflammation and lOP in
Shallow anterior chamber-the shorter axial length of movement of the lens preparation for laser or surgical iridectomy
the globe and greater axial lens thickness predispose Anticholinergics and sympathom imetics cause the Follow-up a special considerations
an eye to phacomorphic glaucoma pupils to dilate increasing iridolenticular touch
Frequent follow-up and lOP management until
especially in the mid dilated state.
GENERAL PREVENTION definitive treatment is implemented
Prophylactic laser iridotomy laser iridotomy may close secondary to the
Cataract extraction ~ DIAGNOSIS subluxated lens, and the preferred definitive
treatment is removal of the inciting cataract.
PATHOPHYSIOLOGY HISTORY
The mechanism of phacomorphic glaucoma is that History of gradually diminishing vision over months DIFFERENTIAL DIAGNOSIS
of angle-closure glaucoma from a relative pupillary or years and recent red, painful eye accompanied Angle closure secondary to intraocular tumors
block. with headache, halos around lights, and nausea or lens particle glaucoma
As the cataract advances, tile lens assumes a vomiting Phacolytic glaucoma
greater thickness and curvature to the anterior History of previous subacute attacks usually at night Uveitic glaucoma
surface. This causes a shallow anterior chamber as or in dim ilium ination.
well as greater iridolenticular touch.
Aqueous fluid continues to be produced causing a PHYSICAL EXAM
rise in the posterior chamber pressure causing the Redness
lens iris diaphragm to move forward furthering the Diffuse corneal edema
rise in intraocular pressure (lOP). Shallow anterior chamber
If the anterior forces are sufficient, the iris will Mature cataract
contact the peripheral cornea and an acute angle
closure will oocur.
534
PHACOMORPHIC GLAUCOMA
ADDITIONAL READING
I
. TREATMENT ONGOING CARE Allingham RR, DamJI KF, Freedman s. et al. Shlefds
MEDICATION FOLLOW-UP RECOMMENDATIONS textbook ofglaucama, 5th ed. Philadelphia:
Antlglaucoma therapy to control lOP: with Very dose follow-up during the initial postoperative UppincottWilliams & Wil~ins, 2004.
hypefosmotics, topical carbonic anhydrase inhibitors. period Is warranted to manage the 10Pand Lee SJL. Lee CKL. Kim WS. Long-term therapeutic
IDpical beta-blodcers and alpha-2 agonists; topical inflammation. efficacy of phacoemulsilication with intraocular lens
steroid therapy to reduce Inflammation PetlMt Monitoring implantation in patients with phacomorph ic
Laser iridotomy Once the lOP Is controlled, lifelong lOP monitoring glaucoma. J Cataract and Refract Surg 201 0;36:
SurgicaI iridectomy and treatment are necessary for glaucoma. 783-789.
3--6-month intervals depending on the severity of EllantJP, Obstbaum SA. Lens-induced glaucoma.
ADDITIONAL TREATMENT Ophthalmology 1992;81 :317-338.
disease
General Measures Epstein DL Diagnosis and management of
Deflnitive treatment Removal of the mature cataract PATIENT EDUCATION lens-induced glaucoma. Am Acad Ophthalmal
The physiology of glaucoma and the importance of 1982;89(3):227-230.
lssws for Referral
adherence to medication should be discussed.
Uncontrolled open-angle glaucoma or dosed-angle
glaucoma may necessitate glaucoma filtering PROGNOSIS
surgery. Eyes with poor vision, even light perception, often . CODES
Chronic angle-<losure glaucoma may persist if there obtain good vision after treatment.
is synechia! closure of the angle. The prognosis depends on the prompt ln!atmem of ICD9
Alternatively apen-ang le glaucoma may be present glaucoma and success olthe. often diffiwIt cataract Lens-induced angle closure one must use the primary
as a result of prior angle dosure resulting in a surgety. diagnosis of cataract either.
reduction in outflow fadIity of the tmbecular COMPLICAnONS 365.20 Primary angle-dosure glaucoma, unspecified
meshwork:. Vision loss secondary ID glaucoma 365.59 Glaucoma associated with other lens
Additional Therap;.s Vision loss secondary to surglcaI complications either disorders
Once the cataract is removed lOP must be monitored from the complex cataract surgery (i.e., zonular
and treatment instituted if glaucoma persists. dialysis, iris prolapse, vitreous loss, or corneal
endothelial injury) or from glaucoma filtering surgery CLINICAL PEARLS
Most often cataract removal is wrative and no Suspect in patients with mature cataract and
further surgery is needed. hyperopia
If the lOP remains elevated after surgical removal of
the cataract and glaucoma is uncontrolled then
glaucoma filtering surgery may be indicated.
Admission and IV mannitoI may be necessary to
comroiiO Puntil definitive surgery
Discharge Criteria
Once the lOP and inflammation is controlled, the
patient may be discharged with close follow-{lp
appointments.
535
PHLYCTENUlAR KERATOCONJUNCTIVITIS
Vasudha A. Panday
~ BASICS
DESCRIPTION
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
Uncommon, usually unilateral. affects conjunctiva Pain. photophobia. tearing, foreign body sensation.
First Line
and/or cornea redness
Treat underlying blepharitis: lid scrubs. artificial tears,
Seen more commonly in children and young adults - If cornea involved. symptoms more severe
antibiotic oinbTlent (erythromycin or bacitracin) 4
Due to type IV hypersensitivity reaction to microbial PHYSICAL EXAM times a day
agents Conjunctival phlycten: small, round, elevated, yellow Second Line
Pinkish-white nodule at limbus involving conjunctiva to white nodule near limbus Short course of topical steroid-antibiotic
and/or cornea Corneal phlycten: starts at limbus. can extend onto combination 4-6 times a day
EPIDEMIOLOGY cornea. may have associated epithelial defect Systemic tetracycline 250 mg q.i.d. for 2-4 weeks
Incidence DIAGNOSTIC TESTS & INTERPRETATION (2)1C]
6Q-70% female Lab Topical metronidazole
Prevalence Chest X-ray (CXR), purified protein derivative (PPD) if Topical antibiotics if bacterial keratitis suspected
Unknown suspicious of tuberculosis (1 )[C] Geriatric Considerations
RISK FACTORS Imaging Side effects of long-term topical steroid use include
Blepharitis CXR, PPD in suspicious cases cataract fonnation and glaucoma.
Genetics Diagnostic Procedures/Other Pediatric Considerations
Corneal cultures if infectious keratitis suspected (1)[C] Tetracycline contraindicated in children. Substitute
None
Pathological Findings erythromycin 250 mg q.i.d.
GENERAL PREVENTION Histopathology shows that nodules are composed of
Treat blepharitis: lid scrubs lymphocytes, histiocytes, and plasma cells.
PATHOPHYSIOLOGY DIFFERENTIAL DIAGNOSIS
Delayed type hypersensitivity to bacterial antigen Rosacea keratitis
EnOLOGY Inflamed pinguecula
Staphylococcal infection Limbal herpes keratitis
Tuberculosis Microbial keratitis
Chlam}(lia, Candida, Coccidioides Nodular episcleritis
Blepharitis
536
PHLYCTl:NULAR KERATOCONJUNCTIVITIS
Pregnancy Consldetatlons PROGNOSIS a Sa1 Alsa {Tapic, Alprilllm, Electronic
I
Tetracycline contraindicated In pregnant or nursing Overall good; if severe, may have residual corneal ~ Meclla Element>
women. Substib.Jie erythromycin 2SO mg q. i.d. scarring leading to decreased vision.
o Steroids are class Cand of unknown safety in Blepharitis
COMPLICAnONS
lactation. Carneal scarring, decreased vision
ADDITIONAL TREATMENT . CODES
GerHHal Measu,..s REFERENCES
Treat tuberculosis ICD9
1. Robin JB, Sd1anzin DJ, Verity SM, et al. Peripheral
luues far Referral 370.31 Phlyctenular ker.rtoconjunctivitis
cornea disorders. Surv Ophtha/mol 19!16;3 1:1-36.
Reamelll or causing comeal scarring 2. Abu ei-Asrar AM, Tabbara KF. Tetracycline
treatment of phlyctenulosis. OphthG/mo/ogy CLINICAL PEARLS
1994; 101:1161-1162.
ONGOING CARE Delayed type hypersensitivity reaction to bacterial
FOLLOW-UP RECOMMENDAnONS antigen
o Mild cases will resolve in 2-4 weeks.
ADDinONAL READING Can involve conjunetiva or cornea
Follow patient weekly. Mozayeni RM, Lam S. Phlyctenular Treatment of underlying blepharitis wi II help resolve
ketlltoconjunctivitis and marginal staphylococcaI lesion in many cases.
PAnENT MONITORING
kaatitis. In: Cornea: fundamentlls, diagnosis, and CorneaI invoiV!!ment can lead ID scarring and
If cornea invalved, monitor for scarring or epithelial
defect leading to melting. management, Krachmer JH. Mannis MJ, Holland EJ, deaeased vision in severe cases.
eds. Vol. 1. Philadelphia: Elsevier Mosby, 2005:
PAnENT EDUCAnON 1235-1240.
long-term treatmelll of blepharitis with Iid scrubs,
artlfldal tears, and ointment to prevent recurrence
537
PIGMENTARY GlAUCOMA
Shelly R. Gupta
Jonathan S. Myers
~ BASICS
As affected individuals age, many patients - Pigment deposition on the posterior lens surface
experience a decrease in pigment dispersion. at the site of zonular attachments (Zentmayefs
- Increased pupillary miosis and cataract fonmation ring or Scheie's line)
DESCRIPTION cause an increase in relative pupillary block. This - Pigment granules on the lens zonular fibers and
Pigment dispersion syndrome {PDS) is a disorder perm its accumulation of aqueous within the equatorial region seen in mydriasis
characterized by the release of pigment particles posterior chamber and increases the distance o In contrast to pseudoexfoliation glaucoma, this
from the pigment epithelium of the iris. These between the zonule fibers and the iris. pigment deposition does not seem to lead to
pigment particles are carried by the aqueous humor zonular wealcness.
and deposited on the structures of the anterior ETIOLOGY
Certain conditions have been found to exacerbate A concave appearance of the peripheral iris seen on
segment. slit lamp exam and gonioscopy.
the dispersion of pigment:
Pigmentary glaucoma {PG) is a secondary On peripheral retinal examination, lattice
-Accommodation, jarring physical exercise,
open-angle glaucoma, occurring in one third of emotional stress, and naturally occulTing or degeneration or retinal breaks may be seen.
patients with PDS. Released iris pigment interferes drug-induced mydriasis
with trabecular meshworlc function, leading to DIAGNOSTIC TESTS & INTERPRETATION
elevated intraocular pressure {lOP) and an optic COMMONLY ASSOCIATED CONDITIONS Imaging
neuropathy. PDS Initial approach
Myopia Ultrasound biomicroscopy (UBM) analysis
EPIDEMIOLOGY (optional)--provides high-resolution imaging of
lnddence
~ DIAGNOSIS
anterior and posterior chamber anatomy.
Approximately one third of patients with PDS will go - Concave profile of the peripheral iris with
on to develop PG over 15 years. iridozonular contact
Conversion from the syndrome to glaucoma is less HISTORY - Reverse pupillary bloclc
frequent as age increases into the 40s and 50s, and Like many open-angle glaucomas. PG is usually - longer than usual radial iris length leading to iris
in some cases. the glaucoma may regress aver time. asymptomatic. Thus, diagnosis is often made on flattening on the anterior lens surface
routine exam. {iridalenticular contact)
Prevalence
Most often bilateral in nature - Increased anterior chamber depth
Constitutes 1-2.5% of all glaucoma seen in most
Western countries Conditions triggering an acute dispersion of - Posterior iris insertion
pigment {exercise, accommodation, prolonged dark Slit lamp optical coherence tomography
Can be detected as early as the mid-teen years of life
environment, etc.), can lead to an acute rise in lOP, {optional)--may be used to assess the parameters
Peak prevalence 3rd and 4th decades of life with resultant symptoms. of the anterior chamber and angle dimensions.
RISK FACTORS - Haloes around lights, ocular pain, and blurTed
Most often seen in young adults---<an be diagnosed vision from corneal edema Diagnostic Procedures/Other
Gonioscopy-increased pigmentation of the
in adolescents and in older individuals PHYSICAL EXAM anterior chamber angle 360
Caucasians-;arely seen in Asians and African On slit lamp exam, pigment may be seen on Transilluminationlretroillumination-visualize
Americans numerous structures throughout the anterior ocular midperipheral iris defects
Male gender-possibly due to increased chamber segment. Diurnal curve measurements--diurnal curve
depth as compared with females - Increased anterior chamber depth with visible fluctuations are thought to occur more often in PG
Myopia-present in 80% of individuals with PDS melanin granules in the aqueous and can lead to acute symptomatic elevations in lOP.
Genetics -Aqueous convection curTents cause released
pigment to deposit in a vertical fashion, slightly Pathological Findings
PDS is thought to be autosomal dominant with Pigment and debris in the trabecular meshworlc
incomplete penetrance. At least one genetic locus has decentered inferiorly, on the corneal endothelium
(J(rukenberg spindle). The pigment is then cells.
been identified an chromosome 7q. -Trabecular meshwork cells engulf the pigment and
phagocytized by corneal endothelial cells. This
PATHOPHYSIOLOGY spindle is neither pathognomonic nor invariably eventually detach from the trabecular beams,
Mechanical: present. leading to sclerosis and eventual fusion of the
-A posterior bowing of the peripheral iris induces - Radial midperipheral slit-like iris defects seen on intratrabecular spaces.
recurrent contact between the iris pigment retroillumination or The cui-de-sacs, which normally terminate in
epithelium and the lens zonules. leading to a transillumination--<:arresponds to location of aqueous channels, are reduced, contributing to
dispersion of pigment. iris-zonule contact {best seen using a small slit increased resistance to aqueous outflow.
o Posterior iris bowing may be from a posterior iris beam, in a dark room, prior to patient dilation) Atrophy and hypopigmentation of the iris pigment
insertion to the sclera, a concave profile in the - Open anterior chamber angle with increased epithelium
setting of a deeper than normal anterior pigmentation of the trabecular meshworlc 360 Hyperplasia of the iris dilator muscle
chamber, and/or a floppy iris stroma. and pigment deposition anterior to Schwalbe's
o A posteriorly directed pressure gradient can line {Sampaolests line), in the inferior 180 DIFFERENTIAL DIAGNOSIS
trigger this phenomenon, such as blinlcing or - Pigment inside a glaucoma filtering bleb Pseudoexfoliation glaucoma-differs by
reverse pupillary block seen with iris-lens - Pigment deposition in circumferential iris furrows. pseudoexfoliative material on the anterior lens and
contact. accommodation, and exercise. pupillary border. No myopic predilection, older age,
This can lead to iris heterochromia if the disease is
- Long anterior zonular fibers inserted onto the asymmetric between the twa eyes (with the darker and 50% of cases are unilateral. Iris
central lens capsule may also cause mechanical transillumination characteristically begins at the
iris being the mare affected side).
disruption of the pigment epithelium at the central pupillary border rather than the midperiphery.
-Anisocoria-larger pupil is on the side with the
iris, leading to pigment dispersion. Darker and less homogenous pigment deposition in
greater iris transillumination.
Genetic and environmental conditions leading to meshwork:.
o Combination of iris heterochromia and
weakness of the iris pigment epithelium. anisocoria may mimic Horner syndrome. Primary open-angle glaucoma with increased
trabecular meshwork pigmentation. Often see
patchy pigment band in angle, older age.
538
PIGMENTARY GLAUCOMA
Cysts of thl! iris and dliary body, typically unilall!ral

Pigmented neoplasms of the iris--<ilia ry body
complex-will not see Krukenbe!'g spindle or
midperipheral transillumination defects. May see
narrowing of the angle at the area of neoplasm.
Surge!}' Is Indicated when maximal medical therapy
fa lis and there Is concern for opdc nerve damage.
- Laser tra beculoplasty--Often requires lower laser
power (ALT: 20D-600 mW, SLT: 0.4-0.7 ml), as
COMPLICA110NS
Patients have a higher inddence of lattice
degeneration, retinal breaks, and rhegmatogenous
retinal detachmem. Retinal detachment may occur In
as many as 6-7% of individuals.
I
,
Iris chafing syndrome--misplacement of posterior the increased trabecular meshwork pigment Geriatric CoiiS1deratlons
chamber intll!IKI.IIar lens leading to haptics rubbing absorbs energy readily.
This condition most typically manifests in early to mid
the postertor lr1s - Laser peripheral Irtdotomy-relleves reverse adulthood.
Uveitis-areful examination for keratic precipitates pupillary block and may reduce iris chafe and
on corneal endothelium and lack of pigment pigment release (remains controversial). Pediatric Considetations
deposition on other antl!rior segment tissues. lndsional surgery is indicated when both This condition is very uncommon at ages below
grNII!r pigmentation infl!riorty medications and laser fail to control lOP. 20 YNIS.
Previous surgery or trauma-obtain thorough - Filtering surgery--11Se antimetabolites cautiously l'l'flgnancy Considerations
history. Iris transIllumlnatlon, If present, usually as patients may be young and myopic, thus more Most medications used to treat PG are pregnancy
more confluent and/or segmental. prone to hypotony maculopatl1y. d;m C: studies have shown rislts to the fetus in
animal models.
. TREATMENT $ ONGOING CARE
FOLLOW-UP RECOMMENDATIONS REFERENCES
MEDICATION
PDS-periodic evaluation fur the development of P<i 1. Sugar HS, Barbour FA. Pigmentary glaucoma: a rare
FimLine PG-follow-up is similar to other types of
Medical therapy directed at lowering lOP: dinical entity. Am 1 OphthalmoJ 1949;32:90.
open-angle glaucoma. 2. Campbell DG. Pigmentary dispersion and
- Aqueous suppressant draps---beta-blockers. - lOP measurement before and after dilation
a-agonist. camonic anhydrase inhibitors glaucoma. A new theory. Ardr Ophthalmd
- VIsual field testing 1979;97(9):1667-1672.
- Aqueous outflow enhancing - Evaluation of optic nerve ap)ll!a r.mce
drop5-prostaglandin analogues - Pachyme!Jy--to mNsure central corneal thickness 3. Migliazzo CV, Shaffer RN, Nyldn R, et al. Long-term
o Irts surface color change seen with the use of - Gonioscopy---to access tl1e degree and analysis of pigmentary dispersion .syndrome and
prostaglandin analogues is due to increased pigmentary glaucoma. Ophthalmology
progression of trabecular pigmentation
melanin production by iris melanocytes. This is 1!186;93:t 528.
not lcnown to affect the iris pigment epithelium Dilated exam of peripheral retina--increased
incidence of myopia, peripheral retinal 4. Uchter PR, Shaffer RN. Dlagnostlc and prognostic
or result in increased pigment dispersion. signs in pigmentary glaucoma. Trans Am Acad
degeneration. and risk of retinal detachment
SecondUne Ophthalmol OtrJ/aryngo/l 970; 74(5):984-998.
Visual field and optic nerve status evaluation or
Cholinergic agents (pilocarpine)-lowers lOP by imaging yearly 5. Campbell DG, Schertzer RM. Pathophysiology of
both increasing aqueous outflow at the trabea.ilar pigment dispersion syndrome and pigmentary
meshwork and by puIling the iris away from zonular l'lltient Monitoring glaucoma. Cuff Opn Ophthalmof
fibl!rs. leading to reduced pig ml!nt release. Annually in pigment dispersion; every 3-6 months 1995;6(2):96-1 01 .
- Pilocarpine has bl!en found to bl! effective in in P<i. Inaeased frequency depending on the
Inhibiting exerdse-lnduced pigment dispersion severity of the disease.
and resultant incrNse in lOP. Frequency of follow-up may decrease with aging if ADDITlONAL READING
- Espedally in young patients, miotics may induce pigment liberation ceases or trabecular
pig mentation begins to diminish. Ritch R, Barkana Y. Glaucoma, pigmentary,
headaches. blurred vision, or increase the risk of eMedidne,. Feb t 7 201 0.http:1/emedidne.medscape.
retinal detachment. PATIENT EDUCAnON com/a rticle/1 20 5833-overview.
- In this settlng, thymoxamlne, an a-adrenergic o Educall! patients on the importance of long-term Shaaraway TM, et al. PigmentarygiNKJ)ma, Vol. 1.
antagonist 'that constrtcts the pupil without follow-up and treatment to prevent irreversible optic Saunders Elsevier Umlted, 2009;29: 349-360.
inducing a myopic shift. may be considered. Note: neuropatl1y and associated vision loss.
Thymlllli! mine is not available in all pam of the Shields MB, Allingham RR. et al. Shie/df textiJoolc
Signs and symptoms of acute lOP elevatlort-haloes ofgaucoma. Sth ed. Philadelphia: Lippincott
wortd. around lights, blul1)' vision, oo..llar pain
- Ocusert, a low-dose pilocarpine, has also been Williams&: Wilkins, 2005;t7:303-31 I.
Warning signs and symptoms of retinal detachment.. Stamper RL., Ueberman MF, Drake MV.
found to pi'O'Itde enough miosis to create pupillary induding flashes. floaters. and decrease in vision
block, without the disabling adverse effects. Bedcer-Shaffels diagnosis and therapy uf the
- NOll!: Headaches, myopic shift, and the risk of PROGNOSIS gauaJmas, 8th ed. St Louis. MO: Mosby Elsevier,
retinal detachment limit the use of pilocarpine in Prognosis Is good with regular follow-up and ca refu I 2009;18:266-268.
this condition. control of lOP.
Laser trabeculoplasty Uncontrolled disease can lead to elevated 10P, optic
- Laser treatm entls effective but not always lasting. neM! cupping. and visual field loss. . CODES
Treatment effect may be reduced in degree or Success rates of fi~ering surgf!!Y are similar to other
duration in younger patients. Energy must be forms of open-angle glaucoma at comparable age ICD9
reduced as high TM pigment absorption of laser levels. 365.13 Pigmentary open-angle glaucoma
energy may lead to lOP spikes. o Over time.. a burn out. phase often
ADDITIONAL TREATMENT occurs--pigment begins clearing from the iris CLINICAL PEARLS
Issues for Refe,.l surface, trabecular meshwork, corneaI endothelium,
In cases of uncertain diagnosis. referral to a lr1s defects dlsap)ll!a ~ and lOP decreases. VIsual field Typical patient young. myopic, male
glaucoma specialist is indicated. and optic nerve appearance stabilize. Bum out, phase of PG may be mistaken for
-As the pigment clears from the trabecular normal tension glaucoma. Older patients who have
Consider referral to a retinal specialist fur dilated meshwo~ the pigment band is darker superiorly
peripheral retinal exam if concerns arise fur retina I optic neM! cupping, visuaI field loss. and normal
more than inferiorty (pigment reversa I sign). lOP may have had PG and elevated lOP in the past.
degeneration or retina I detachment - May bl! attributable to age-relall!d inaNse in
axial length of the lens. which pulls the peripheral
l~s away from the zonules
- This phase does not occur invariably, most
patients require lifelong therapy.
539
PlAQUENIL TOXICITY/DRUG TOXICITIES
Jared D. Peterson
~ BASICS Hepatic/renal failure

- Both chloroquine and HCQ are cleared via hepatic
and renal pathways. with failure of either system
~ DIAGNOSIS
DESCRIPTION potentially resulting in toxicity. HISTORY
Chloroquine and hydroxychloroquine (HCQ) Cumulative dose Symptoms can range anywhere from severe to
(Piaquenil), drugs used to treat malaria and various - Initially believed to be the most important risk asymptomatic. Most patients describe: decreased
dermatologic and inflammatory conditions - such as factor but there are reports of patients with no vision, blurry vision, difficulty reading, missing central
lupus and rheumatoid arthritis, can cause a vision, glare, light flashes, or metamorphopsia (1 ).
retinopathy despite very high cumulative doses of
maculopathy. drug (3). PHYSICAL EXAM
Because of a lesser degree of retinotoxicity, HCQ has Visual field testing
largely replaced chloroquine in the United States. GENERAL PREVENTION
Absolute prevention requires avoidance of the drug; - Central visual field testing is the most important
EPIDEMIOLOGY however, risk is extremely low when taking test for early diagnosis as functional loss in the
appropriate doses. area around the macula may appear prior to
lnddence funduscopic changes.
Reported anywhere from 0 to 4%, with most reports PATHOPHYSIOLOGY - Defect begins as paracentral scotoma that may
citing an incidence of less than 1% The mechanism of maculopathy is not well progress to confluence as a pericentral ring
Less than 50 cases reported from 1960 to 2005 (1) understood; however, it is known that both agents scotoma "bull's eye and finally a central
RISK FACTORS bind to melanin in the retinal pigment epithelium scotoma.
Dailydose (RPE) (2), where they affect RPE metabolism, - Peripheral loss occurs in advanced stages.
-This is the most important risk factor. Nearly all including its function of scavenging shed outer Visual acuity testing
reports of toxicity have occurred in those talcing photoreceptor segments. This may in turn lead to -Acuity defect does not typically manifest until a
greater than 6.5 mglkg/day of HCQ and greater photoreceptor degeneration. central scotoma occurs.
than 3 mg/kg/day of chloroquine (2). - HCQ demonstrates less ocular toxicity due to the Funduscopic examination
Duration of treatment presence of the hydroxyl group, which renders it -In early, "premaculopathy" stages, the earliest
- Reports of retinal toxicity at doses lower than less able to traverse the blood-ietinal barrier (1 ). visible signs of toxicity may include macular
6.5 mg/kg/day have occurred almost universally in ETIOLOGY stippling and loss of foveal reflex.
patients with more than 5 years of continuous Use of chloroquine or HCQ -True maculopathy shows hyperpigmentation of
usage (2). the macula surrounded by a clear zone of
Age COMMONLY ASSOCIATED CONDITIONS depigmentation, which is surrounded by another
- Malfunction of retinal pigment in the elderly may In addition to retinopathy, these drugs are associated ring of hyperpigmentation, giving the classic
result in reduced drug clearance with increased with intraepithelial corneal deposits, ciliary body "bull's eye appearance.
accumulation (1 ). involvement with impaired accommodation, and - More extensive damage may show diffuse RPE
-One case series of 47 patients showed that none cataracts. These are less common with HCQ compared atrophy over the entire fundus as well as vascular
of 9 patients younger than 60 years manifested with chloroquine. attenuation and disk pallor (1 ).
retinopathy, whereas 13 patients older than - Findings are almost always bilateral and
60 years did (3). symmetric.
Obesity Funduscopic photography is used to document
-Antimalarials do not accumulate in fat, which is fundus appearance for later comparison.
why ideal body weight should be used in Color vision is not usually affected until later in
calculating dosages. disease course. Baseline screening of males is
helpful to discern preexisting color deficits.
540
PlAQUENIL TOXICITY/DRUG TOXICITIES
DIAGNOSnC TESTS & INTERPRETAnON - Each patient should be risk stratified as either high 3. Johnson MW, Vine AK. HydraKYChloroquine therapy
I
Imaging risk or low ~sic. Apatient Is high risk 1f they have: In massive total doses without retinal toxldty. Am J
Fluorescein angiography may not be helpful early as In (1) a daily dose exceeding abow Ophthalmol 1987; 104(2):139-144.
early toxicity the subtle macular changes precede recommendations. [2) duration of use more than 4. Bernstein HN, Ginsberg J. The pathology of
angiographic altt!rations [1). 5 years. (3) obesity, (4) renal or liver disease. (5) chloroquine retinopathy. .An:h Ophthalmol
oonoomilant retina I disease. or (6) age above 1964;71 :238-245.
Dlegnostlc Procedures/Othll' 60 years.
Electrophysiologic testing 5. Wetterholm DH, Winter FC. Histopathology of
- Low-risk patients (no ~sk: factors) should be chloroquine retinal toxldty. Arch Ophlha/mol
- Electroretinogram (ERG) and electrooculogram screened at least once from age 20-29 years, at
(EOG) will show abnormalities in late toxicity and 1964;71 :82~7.
least twice from age 30-39 years, every 2-4 years
are helpful to assess extent of damage but have for age Hi4 years. and every t-2 years for 65
little role in screening for early tnxicity.
years and older. Exams should indude dilated . . CODES
- Multifocal ERG (mfERG) is newer technology that
oomeaVretina exams and Amsler grid or
may be better able to detect a bu II's eye Humphrey 1D-2 flelds. Other tests are optional at
macuiOj:)athr, however, Its role as a screen lng test lCDI
the discretion of the physician.
remains unclear (2). 362.55 Toxit maculopathy of retina
- High-fisk patients should be screened annually.
-Optical Coherence Tomography (OCT) can Exams should indude the same components as in
demonstratl!! "flying saucer" sign. low-risk patients.
Pathologlcfll Findings
CLINICAL PEARLS
- Patients can be given Amsler grids to use at home
Widespread destruction of rods/ames and the outer and aII padents should be Instructed to rerum 1f Risk factors are (t) daily dose greater than 3 mgAcg
nuclear layeG with relative foveal sparing they note any change in vision. of chloroquine or greater than 6.5 mg/k:g of HC:Q,
Migration of pigment from the RPE in the form of - ArroJ patient with early toxicity should discuss drug (2) duration of treatment more than 5 years, (3) age
large pigment-laden cells has been reported in both cessation. Ally patient with findings that may above 60 years, (4) obesity, [5) hepat!drenal failure.
the inner (4) and the outer (5) nuclear layer. indicate early toxicity should be seen again in (6) baseline retina I disease
- Arteriolar narrowing in more advanced stages 3 months for reevaluation. Symptoms indude decreased vision, blurry vision,
DIFFERENnAL DIAGNOSIS PATIENT EDUCAnON difficulty reading, missing central vision, glare. light
HCQ tnxidty must be distinguished from cone Patient counseling is imperative. flashes, and metamorphopsia.
dystrophy, oone-rod dystrophies, Stargardt's disease, - Antimalarials are typically prescribed by The dassic funduscopic finding is a bilateral bull's
chronic macular hole, neuronal ceroid lipofuscinosis. nonophthalmologists. so patients may not be fully eye maculopathy.
and fenestrated sheen macuIar dystrophy. informed of the ocular risk at the onset of Central visual field testing is the most important test
Premacu lopathy must be dlstlngulshed from treatment. It Is Important to emphasize that,. for detecting early functional loss.
age-related macular degeneration (ARM D). although rare, rednopathy Is a real and potentially If the drug is stopped in the premaculopathy stages,
devastating entity. there Is a chance of recovery; howeve~ most
- Once retinopathy is suspected, a frank discussion patients do not recover vision or even prog resslvely
TREATMENT regarding risks/benefits of continuing versus worsen after drug cessation.
stopping the drug is important.
ADDITIONAL TREATMENT - Even with drug cessation, the majority of cases
Genetal Measures show persistence or even worsening of visual
Cessation of the offending agent Is critical. HOWI!YeG symptoms.
cessation of HCQ should be performed in
PROGNOSIS
conju netion with the internist or rheumatologist.
Depends on the severity of the retinopathy at the
Use ideal instead of actual body weight in time of medication cessation. If stopped In
calailating daily dase requirement. premaculopathy stages, reversal Is possible and
Ideal body weight for males = 50 leg + 2.3 kg/inch visual prognosis is good.
over 5 fl For females = 45.5 kg + 2.3 kWinch OYer If true retinopathy exists, it will likely remain stable
5 ft (1). or can continue to progress.
COMPUCAnONS
ONGOING CARE lmpaired vision
FOLLOW-UP RECOM MENDAnONS
The American Academy of Ophthalmology (AAO) REFERENCES
prepared a oonsensus reoom mendation as follows
(2): 1. Yam JCS, Kwok AKH. Oc:ular toxicity of
-Within the first year of beginning therapy, all hydroxychloroquine. Hang l(ong Med1
patients should have a baseline exam lnatlon that 2006;12(4):294-304.
includes visual acuity testing, dilated examination 2. Marmor M, Carr R, Easterbrook: M, et al.
of cornea/retina, as well as central visual field Recommendations on screening for chloroquine
testing using either red Amsler grid or Humphrey and hydroxychloroqulne retinopathy.
Visual Field 1D-2 perimetry. Color vision testing. Ophthalmology 2002;109:13 77-13 82.
fundus photography, fluorescein angiography, and
multifocal ERG are considered optional.
Autofluorescence testing was not widely available
but may also be oonsidered.
541
PlATIAU IRIS GlAUCOMA
Arun Prasad
~ BASICS In plateau iris cvnfiguration, acute angle-closure

glaucoma develops from only a mild degree of
pupillary block; a PI is curative.
Imaging
UBM
DESCRIPTION In plateau iris syndrome. there is no component of Anterior segment optical coherence tomography
A condition that predisposes to acute or chronic pupillary block; plateau iris syndrome is present (As-ocn
angle-closure glaucoma in which pupillary block is when the angle closes and intraocular pressure (lOP)
not the primary mechanism of angle closure rises after dilation in the absence of phacomorphic DIFFERENTIAL DIAGNOSIS
Should be suspected when the central anterior glaucoma. Acute angle-closure glaucoma associated with
chamber depth appears normal and the iris plane pupillary block: decreased central anterior chamber
flat. whereas the peripheral iris is sharply convex ETIOLOGY depth, convex iris appearance
with an anterior iris apposition, as seen on Idiopathic Aqueous misdirection: diffuse shallowing of the
gonioscopy Hyperopia is not as common in plateau iris as it is in anterior chamber, especially after cataract or
Because of angle crowding, an eye with plateau iris angle closure due to pupillary block; one should glaucoma surgery
is predisposed to angle closure, even if there is a consider the diagnosis of plateau iris if angle closure Phacomorphic glaucoma: closure ofthe angle due
patent peripheral iridotomy (PI). occurs in a younger patient with myopia. to a large, intumescent cataract
Peripheral iris or ciliary body cysts can cause a
EPIDEMIOLOGY plateau-like iris configuration.
Prevalence . TREATMENT
A study in 2007 that used ultrasound biomicroscopy
(UBM) to assess the presence of plateau iris found a ~ DIAGNOSIS MEDICATION
prevalence of 32.3% in a cohort of primary Pilocarpine 0.5-1% t.i.d. to q.i.d. may be used long
angle-closure suspects. PHYSICAL EXAM term if plateau iris syndrome is diagnosed.
Gonioscopy or an angle imaging technique such as
RISK FACTORS UBM is necessary for diagnosis. SURGERY/OTHER PROCEDURES
Patients with plateau iris tend to be female and The double hump sign seen on compression If acute angle-closure glaucoma is present, break.
younger (30s-50s). They also tend to be less gonioscopy is strongly correlated with the presence the attack. medically. If an attack. cannot be
hyperopic than those with pupillary block angle of plateau iris. controlled medically, a surgical peripheral iridectomy
closure, and they often have a family history of Relying solely on the Van Hericlc. method of may need to be done emergently. (See section on
angle-closure glaucoma. determination of angle depth will cause the Acute angle-closure glaucoma.)
examiner to miss the plateau iris configuration. If an attack can be broken medically, a laser PI
PATHOPHYSIOLOGY should be done within 3 days. 1week. later, repeat
Anteriorly positioned ciliary processes that push the Work-up should include slit lamp examination to
check for the presence of a patent PI, lOP gonioscopy and perform a dilation challenge test by
peripheral iris anteriorly, causing angle crowding
measurement, gonioscopy with compression, instilling a weak. mydriatic such as tropicamide
A component of pupillary block may be present. 0. 5%. If angle closure occurs and the lOP increases,
undilated optic nerve evaluation, angle imaging if
available. plateau iris syndrome is present. Treatment with
argon laser peripheral iridoplasty (ALP I) will flatten
and thin the peripheral iris. As an alternative to
ALPI, one could consider long-term treatment with
pilocarpine (see above) (4)[(].
If angle closure is not present, a laser PI should be
performed to relieve the pupillary block. component.
542
PlATEAU IRIS GLAUCOMA
ADDITIONAL READING
I
Crowston JG, Medeiros FA, Mosaed S, et al. Argon
FOU.OW-UP RECOMMENDA110NS laser iridoplasty in the treatment of plateau-like iris ICD9
If a PI has been perfonned for acute angle<:losu re ronfigu ration as result of numerous dliary body 364.82 Plateau iris syndrome
glaumrna, reevaluate in 1 week, 1 month, and cysts. Am J Ophthalmo/ 200 5;139(2):38t-383.
3 months. Kiuchi Y. Kanamoto T. Nakamura T. Double hump
If plateau I~s conflguradon Is present. follow-up sign in indentation gonioscopy is mrrelated with CLINICAL PEARLS
should be done every 6 months. presence of plateau l~s conflguradon regardless of
patent iridotomy. J Glaucoma 2009; t8(2): The diagnosis of plateau 1r1s can be made only by
l'atlent Monitoring goniOSCilpy and/or anterior segment imaging.
Gonioscopy should be performed every 6 months ID 161-164.
Kumar RS, Baskaran M, Chew PT. et al. Prevalence Consider plateau iris when a younger myope
monitor the angle, looking for any evidence of new
of plateau iris in primary angle closure suspects: an presents with angle dosure.
peripheral anterlor synech lae (PAS) or If furlt1er
angle narrowing has occurred, as ALPI can be done ultrasound biomicroscopy study. Ophthalmology Remember the distinction between plateau iris
in these situations. If the angle continues to become 2006;115(3):430-434. conflguratlon and plateau l~s syndrome.
mere narrow or if more PAS form despite a patent Ritch R. Tham CC, Lam OS. Argon laser peripheral ALPI is very effective in treating plateau iris
PI, treat as chronic angle-closure glaucoma. (See iridoplasty (ALPI): an update. Surv OpiJthalmol syndrome.
section on Chronic angle-closure glaucoma.) 2007;52(3):279-288.
In addition to gonioscopy, m~re the lOP. and Ritch R. Tham CC, Lam OS. Long-term success of
ensure that the PI is patent. Evaluation of the optic argon laser pe~pherallr1doplaSty In the
disc should be done. management of plateau iris syndrome.
Every 2 years, perfonn dilation to ensure that the PI Ophthalmo/agy 2004; 111 (1):1 04-1 DB.
is adequate ID prevent angle closure.
Although ALPI is very effective in treating plateau
Iris syndrome and the effect malntalned over several
years in most patients, a small number of patients
may need retreatment with ALPI.
COMPLICATIONS
Despite measures to deepen the angle recess. chronic
angle closure may develop and may necessitate
filtration surgery.
543
POLYMYALGIA RHEUMATICA
Joshua J. Ney
Erin M. Ney
Lan Chen
Susan Hoch
Vatinee Y. Bunya
RISK FACTORS
See Genetics" and Commonly Associated
Conditions
DESCRIPTION HISTORY
Genetics Pain and stiffness of at least 4 weeks duration
Polymyalgia rheumatica (PMR) is a disease
No definitive inheritance pattern -Joints involved include neck, shoulders, low back,
characterized by pain and stiffness of the proximal
muscles and joints, primarily the shoulders, hip Associated with HLA-DR4 and HLA-ORB 1, both of hips, thighs. and trunk..
girdles, neck, and torso. which have been implicated in GCA - Pain is usually symmetrical.
Occurs in people aged 50 years and older GENERAL PREVENTION Weight loss
- Characterized by bilateral aching and morning Awareness of the overlap between PMR and GCA, Anorexia
stiffness (lasting 30 min or more) persisting for at with prompt diagnosis and treatment of GCA to Malaise
least 1 month prevent permanent visual loss (see "Commonly Headache, scalp tenderness. acute visual loss
-Also can be associated with fever, malaise, Associated Conditions")
anorexia, and weight loss. Erythrocyte PHYSICAL EXAM
PATHOPHYSIOLOGY Decreased range of motion in involved joints
sedimentation rate (Westergren) is increased to
Idiopathic chronic inflammatory syndrome Muscle strength is normal, although testing may be
40 mmlh or more.
characterized by synovitis and bursitis limited by pain.
Thought to be on the same clinical spectrum with
Associated with ll-6 upregulation Occasionally patients will have diffuse edema of
giant cell arteritis (GCA. also known as temporal
arteritis) ETIOLOGY hands and feet.
There have been no causative agents identified. If GCA is suspected, perform complete ophthalmic
EPIDEMIOLOGY examination including visual acuity, pupils,
lnddence COMMONLY ASSOCIATED CONDITIONS color plates. visual fields, and dilated fundus
Varies geographically; annual incidence ranges from GCA examination.
13 to 113 per 100,000 between Italy and Norway, -Vasculitis of large and medium-sized vessels - Optic nerve evaluation often reveals pale,
respectively. characterized by headache, jaw claudication (pain edematous disc sometimes with flame
In Olmsted County, Minnesota, the annual incidence with chewing), scalp tenderness particularly over hemorrhages.
was 54.8 per 100,000 population aged 50 years temporal arteries. palpable cord-like temporal - Fundus examination may reveal central retinal
and older. artery, and visual disturbances artery occlusion and evidence of arteritis (vascular
Higher incidence in women and Caucasians -Visual phenomenon include amaurosis fugax, sheathing).
anterior ischemic optic neuropathy, diplopia,
Prevalence central retinal artery occlusion, optic chiasm, and DIAGNOSTIC TESTS & INTERPRETATION
Prevalence increases with increasing age retrochiasmal vascular damage. Lab
- 15% of patients with PMR develop GCA Initial lab tests
- 4D-50% of patients with GCA have PMR ESR
-Greater than 40 mmlh; values can exceed
100 mmlh
Elevated C-reactive protein (C RP)
Normal values for both ESR and CRP are much less
common, occurring in only 1.2% with PMR and/or
GCA.
Platelets: an acute phase reactant, can have
thrombocytosis with GCA
544
POLYMYALGIA RHEUMATICA
Fallcrw-up 1: special cDnSiderlltlons IN-PATIENT CONSIDERATIONS PROGNOSIS

ESR and CRPlevels should be monitored to gauge Admission Criteria oGenerally self-II mlted course over months to a p
treatment efficacy and diagnose rewrrence. o Admit if the patient has vision loss or amaurosis year
Diagnostic l'roctHiures/Other fugax as cculd be GCA and may require IV - Most patients can be tapered off glucocorticoids
Temporal artery biopsy methylprednisolone. COMPUCA.TIONS
-Obtain if there are any visual disturbances or signs - Wh lie In hospital arrange for temporal artery Developing GCA
or symptoms consistent with GCA. biopsy.
-II GCA Is clinically suspected, do not defer tvRulds
treatment to attain biopsy sped men. Typical methylprednisolone dose Is 250 mg IV q6h x
REFERENCE
- Perform the biopsy with in 1 wee~ of initiating 12 doses then switxh to oral prednisone 80-1 00 mg 1. Caporali R, Cimmino MA. Ferracdoli G, et al.
high-dose corticosteroid treatment (see "Inpatient daily Prednisone plus methotrexate for polymyalgia
Considerations"), although positive biopsy results rheumatlca: a randomized, double-blind,
can be seen up to 1 month after treatment. Discharge Criteria
After completion of IV steroid course and temporal placebo-controlled tria I. Ann Intern Med
DIFFERENTlAL DIAGNOSIS artery biopsy 2004;141 :493-500.
Rheumatoid arthritis
o Fibromyalgia
o Polymyositis
ONGOING CARE ADDITIONAL READING
Bursitis & tendinitis FOLLOW-UP RECOMMENDATIONS Salvarani c. Cantini F. Boiardi L, et al. Polymyalgia
o Malignancy Primary care doctor rheu matica. Best Pract Res Clin RheumIto/
o Hypothyroid ism Rheumatologist 2004;18:705-722.
Infection: endocarditis Ophthalmologist for evaluation and work-up of GCA Frearson R, Cassidy T, Newton J. Polymyalgia
rJ TREATMENT
MEDICATION
Patient Monitoring
Prednisone should be tapered slowly once symptom
mntrol has been achieved.
- Once a daily dose of less than 5-1 0 mg is
rheu matica and tern poral arteritis: Evidence and
guldellnes for diagnosis and management In older
people. Age Ageing 2003;32:370-374.
First Line achieved, reduction should not exceed

o Prednisone 1 mglmomh. . CODES
- No proven efficadous dose, initial goal of therapy While on prednisone, blood pressure, glyamic
Is symptom control. control, and need for calcium and vitamin D ICD9
- Usually responds to oral prednisone supplementation and gastrlt add suppression o 362.34 Transient retinal arterial occlusion
7.5-20 mg/day. The initial dose of prednisone should be evaluated by primary care physidan. 377.41 lschemic optic neuropathy
needed to alleviate musculoskeletal sym ptorns ESR and CRP should be dlecked, if there is dinical 72 5 Polymyalgia rheumatica
~aclated with GCA Is hlg her at 51>-60 mg/day. evidence of recurrence.
SfKOIJd Une PATIENT EDUCATION CLINICAL PEARLS
o Methotrexate The Arthritis Foundation (http://Www.arthritis.org)
- Can be used in patients with glucacorticoid- The American College of Rheumatology ProximaI musde tenderness and stiffness in patients
indu~ side effects (WWN.Rheumatolagy.org) older than SO years
- Dosage of 10 mg with 1 mg of folinic add o High ESR and CRP
supplementlltlon (1) Assodation with GCA
Good response to prednisone
545
POSNER-SCHLOSSMAN SYNDROME (GlAUCOMATOCYCLITIC CRISIS]
Geoffrey P. Schwartz
Gonioscopy to rule out acute angle closure glaucoma.
DESCRIPTION HISTORY Lab

The patient presents complaining of mild discomfort Posner-Schlossman syndrome is a clinical diagnosis,
Posner-Schlossman syndrome, also known as
and blurring of vision or colored halos in 1 eye. there are no laboratory tests.
glaucomatocyclitic crisis, is a form of open-angle
glaucoma characterized by self-limited recurrent However, there may be no pain despite high lOP. The Imaging
episodes of marked elevation in intraocular pressure eye is not red and typically looks normal to the patient Optic nerve imaging with either stereo disc
(lOP) associated with nongranulomatous anterior or the casual observer. Recurrent attacks lasting photographs, Heidelberg retinal tomography (H RT), or
uveitis. It is typically unilateral, with attacks lasting a several hours to 1 month, but rarely over 2 weeks, optical coherence tomography (ocn should be
few hours to several weeks. Mild to no discomfort. may occur. Patients have a variable clinical course; obtained to document the current optic nerve status,
Optic nerve damage and visual field damage may some have many recurrences over many years, and to have a baseline to look for future damage to
occur from repeated attacks (1)[C]. whereas others have 1or 2 episodes in their lives. the optic nerve.
EPIDEMIOLOGY PHYSICAL EXAM Diagnostic Procedures/Other
Typically affects patients between 20 and 50 years of On external examination, the eye is quiet and Humphrey visual field (HVF) testing to determine loss
age. Rare cases have been reported in adolescence typically looks normal. of a patient's visual field.
and patients older than 60 years. The conjunctiva is white. Pathological Findings
lnddence Elevated lOP develops 1-2 days prior to anterior Repeated episodes may lead to optic nerve damage.
No study in the US inflammation and keratic precipitates.
0.4 (per 100,000) in Finland The corneal endothelium develops fine stellate
Acute angle-closure glaucoma
keratic precipitates, nonpigmented, typically
Prevalence distributed over the inferior part of the cornea, Chronic angle-closure glaucoma
No study in the US ranging from 1to 20 in number. Fuchs heterochromic iridocyclitis
1.9 (per 100,000) in Finland The anterior chamber shows very mild aqueous cell Nongranulomatous anterior uveitis
and flare not in proportion to the degree of lOP Inflammatory open-angle glaucoma
RISK FACTORS
See "Etiology. elevation. Pigmentary glaucoma
The lOP elevation is greater than 30, usually in the Neovascular glaucoma
ETIOLOGY range of 4o-60 mm Hg, much greater than would Herpes simplex and herpes zoster keratouveitis
Unclear, however significantly elevated levels of be expected given the mild degree of inflammation.
several entities have been found in the aqueous
Microcystic corneal edema may or may not be
humor of patients during recurring attacks of
present.
Posner-Schlossman syndrome and normalize between
episodes: The iris may be slightly dilated, but peripheral
anterior synechiae and posterior synechiae do not
Cytomegalovirus (CMV) develop.
Herpes simplex virus (HSV) Rarely, iris heterochromia may occur, with the
Prostaglandins affected eye being lighter in color, due to stromal
Associations with HLABw54 atrophy from repeated inflammation.
Associations with peptic ulcer disease Gonioscopy reveals an open angle that may show
COMMONLY ASSOCIATED CONDITIONS keratic precipitates on the trabecular meshwork..
Unclear. See Etiology" Examination of the lens and fundus are normal.
546
POSNER-SCHLOSSMAN SYNDROME (GlAUCOMATOCYCliTIC CRISIS)
REFERENCES
I
I. Posner A, Schlossman A. Syndrome of unilateral
MEDICATION FOLLOW-UP RECOMMENDATIONS rea.ment attacks of glaucoma with cydltlc
Topical steroids to control the inflammation and Patient M011ltorlng symptoms. Aro'J Ophtha/ 1946;39(4):517-535.
topical glaucoma drops to control the elevated lOP are o EvelY few days until the lOP improves then weekly 2. Moorthy RS, Mermoud A. BaeM!Idt G, et al.
usually used together to control the acute anack. lhe until the episode resolves and the patient is tapered Glauooma assodated with uveitis. Surv Ophthalmal
steroids are tapered off and glaucoma medications off the medications appropriately. 1997;41 :361-394.
stopped as the inflammation resolves and lOP o Monitor with a complete ophthalmic examination 3. Masuda K. lzawa Y, Mishima SS. Prostaglandins
normalizes (2)[C]. and appropriate optic nerve imaging and visual field and glaucomato-cy~:lltls crtsls. Jpn J OtiJthalmol
FimLin assessment as cirrumstances dictate. every 1975;19:368.
ToplcaI steroids: Predn lsolone acetate 1% q.l.d. 6 months initially to yearly ifstable. 4. Dinakaran S, Kayarkar V. Trabeculectomy in the
Topical glaucoma drops: Beta-blockers (timolol PATIENT EDUCATION management of Posner-Schlossman syndrome.
0.5% b.i.d.), andlor alpha-agonists (brimonidine o Stress the recurrent nature of the disorder.
O!iJthalmic Surg lasers 2002;33(4):321-322.
0.2%, 0.15%, 0.1% b.i.dlt.i.d.). andlor carbonic The importance of proper monitoring of this
anhydrase inhibitor (dorzolamide 2% b.i.dJt.i.d.) oond ition as it can silently lead to optic nerve
SKOnd Unfl damage with possible visual impairment Loss of . CODES
Topical NSAIDs (didofenac 0.1% q.i.d. or vision can be permanent.
equivalent), Monitoring Is 1mportant because the patient may not ICD9
know that they are sustaining damage to the optic o 364.00 Acute and subacute iridocyd itis, unspecified
Oral NSAIDs-indomethacin 75-1 50 mg PO q.d.
nerve. The patient experiences no or mild symptoms, o 364.22 Glauoomatocyd itic aises
(3)[C]
Oral carbonic anhydrase inhibitors-acetazolamide and will not experience changes in their vision until o 365. 10 Open-angle glaucoma, unspedfled
250 mg PO b.l.d. to q.l.d. as tolerated a significant portion of the optic nerve is damaged.
Note: all of the above can be used as first-line PROGNOSIS
treatment as well, depending on how the patient Good, if properly diagnosed, treated and followed.
CLINICAL PEARLS
responds. Vision should be unoompromised throughout the o The eye is quiet looking with very mild symptoms
ADDITIONAL TREATMENT patient's lifetime. and inflammation despite a significantly elevated
o However, it can be easi ~ overlooked in an lOP.
Issues for Refe,.,.,l
Ophthalmologist for proper monitoring and emergency department or primary care giver setting. o Easily overtoob!d in an emergency department and
treatment Optic nerve damage and visual fleld changes can be primary care setting
significant and are usually permanent
Glaucoma filtering procedures such as trabecu lectomy
and rube shunts are rarely needed (4)[C].
547
POSTERIOR EMBRYOTOXON
Alex V. Levin
Ocular
Few iris strands bridging the angle and attaching to
DESCRIPTION HISTORY
the PE, cornea plana, corectopia, polycoria, aniridia,
Posterior embryotoxon (PEl is a thickened and May be history of at-risk associated disorders in
megalocornea, glaucoma, and unspecified anterior
anteriorly displaced Schwalbe's line. The PE may be family, especially if autosomal dominant
segment dysgenesis.
discontinuous. Schwalbe's line is the circumferential May be history of glaucoma in family without len own
collagenous band at the junction of Descemet's Systemic associated disorders or diagnoses
membrane and the trabecular meshworlc. Alagille syndrome (arteriohepatic dysplasia), is a
rare genetic disorder with autosomal dominant PHYSICAL EXAM
EPIDEMIOLOGY transmission. Types 1 and 2. Ophthalmologist Slit lamp examination:
Prevalence may be asked to assist in the diagnosis of this -A glass-like hyaline membrane, sharply defined
Its prevalence among normal population is 8--15%. syndrome. and concentric, on the inner surface of cornea,
It is almost an obligatory feature of the - Hepatic manifestations: may be discontinuous, located 0. 5-2 mm anterior
Axenfeld-Rieger spectrum and is seen in 80% of o Most often presents within the first 3 months of to the posterior limbus. May not be visible without
patients with Alagille syndrome. life gonioscopy.
o Ranges from jaundice, mild cholestasis, and -Translucent posterior corneal surface between the
RISK FACTORS pruritus to progressive liver failure PE and the limbus.
Patients with Alagille or Axenfeld--Rieger are at - Cardiac manifestations: -The ring in many cases does not extend for a full
particular risk. o Ranges from benign heart murmurs to 360. More often temporally than nasally.
PE is a congenital malformation without risk factor significant structural defects occur in 90-97%. - May or may not have iridocornea strands attached
for acquisition. o Pulmonic stenosis is the most common cardiac to the PE
Genetics finding (67%). Gonioscopy:
Most cases are not inherited and not heritable. - Ophthalmologic manifestations -Required if PE suspected and not visible at slit
Both patterns of autosomal dominant (more o PE (78--89%), iris abnormalities (45%), diffuse lamp
common) and recessive isolated PE have been fundus hypopigmentation (57%), speckling of DIAGNOSTIC TESTS & INTERPRETATION
reported. the retinal pigment epithelium (33%), and optic
disc anomalies (76%) including optic disc Lab
Otherwise, genetics parallels any associated Initial lab tests
syndrome (e.g., Axenfeld-Rieger and Alagille drusen (94%) and papilledema
o Visual acuity is usually not significantly affected.
None required unless multisystem involvement
autosomal dominant). suggests PE as part of a syndrome (e.g., liver function
- Skeletal manifestations,
ETIOLOGY o The most common radiographic finding is tests if suspect Alagille syndrome).
Schwalbe's line, trabecular meshwork. and Descemet's butterfly vertebrae (33-87%) Follow-up It special considerations
membrane are derivatives of neural crest. PE develops o Most common in the thoracic vertebrae Risk: for glaucoma in patients without iridocorneal
when neural crest migration and differentiation in this - Facial features adhesion is unlcnown. Ophthalmic follow-up
region of the eye is disrupted, presumably due to o Almost always present and include a prominent suggested.
defective genetic instruction. For example, JAG1, the forehead, deep set eyes with moderate PE accompanied with iris attachment should be
gene, which when mutated causes Alagille type 1 hypertelorism. pointed chin ("triangular facies"), followed for early glaucoma detection.
(MIM 118450), encodes a protein, NOTCH1, which is and saddle or straight nose with a bulbous tip. - Examine siblings, offspring, and parents where
involved with pathways that determine cell fates in Axenfeld-Rieger spectrum possible to identify others who may be at
early development. 22q 11.2 deletion syndrome glaucoma risk.
Noonan syndrome
Aarskog (facial-1ligital--genital) syndrome
548
POSTERIOR EMBRYDTDXDN
Imaging ADDmONAL TREATMENT ADDI110NAL READING
I
High-resolution anterior segment optical coherence Issues for Referrel
tomography(OCl) or ultrasound biomicroscopy may Genetics consultation If associated with systemic Rennie CA. ChowdhuiY s. Khan J, et al. The
be helpful. Usually not required. syndromes or ot11er malformations preyalence and assodated features of posterior
Initial approad! o Glaucoma referral as needed
embryotoxon in the general ophthalmic clinic. f)e
Full ophthalmic examination whh partleular {land) 2005;19(4):396-399.
SURGERY/OTliER PROCEDURES K~antz ID, Piccoli DA, Spinner NB. Alagille
attention to possibility of glaucoma
o No surgery indicated or avaiIable to alleviate PE. syndrome. I Med Getlet 1997;34:152-157.
Review of systems to identify ot11er possible Surge!}' If focuses on treatment of assodated
syndrom ic findings. Burian HM, Braley AE. Allen L. External and
glaucoma If falls medical treatment gonioscopic visibility of the ring of Schwalbe and the
Pathological Findings - No indication to lyse iridocomeal strands trabecular zone; an interpretation of the posterior
Hypertrophy or thickening and anterior displacement corneal embryotoxon and the so-ca lied congenital
of Scl1walbe's line, In cross-section appears as a hyaline membranes on the posterior corneal surface.
collagenous condensation. $ ONGOING CARE Trans Am O(ilthalmol Soc 1954-1955;52:389-428.
1hin Descemet's membrane and endothelium on FOLLOW-UP RECOMMENDATIONS
either side of Schwalbe's line. o Follow for early identification and treatment of
DIFFERENTIAL DIAGNOSIS glaucoma. ( t coDES
Peripheral corneal endothelial or inner stromal PE associated with any ocular or .systemlc problems
opacification or deposition. should be followed for those conditions. ICD9
lridocomeal adhesion from other causes (e.g., PATIENT EDUCATION 377.21 Drusen of optic disc
peripheral anterior .synec11 ia) Pediatric Glaucoma and Cataract Family Association 743.43 Other congenital corneal opacities
- Surgical wounds (in particular stepped self-sealing (wNw.pgda.org). 743.44 Spedfled congenital anomalies of anterior
wounds as In tern poral cataract extraction) or chamber, chamber angle. and related structures
external trauma PROGNOSIS
No known increased or decreased risk for advelle
outcome semndary to glaucoma. CLINICAL PEARLS
. TREATMENT
o Isolated PE is a common dominantly inherited ocular
MEDICATION
finding that may be assodated with
FltstLine Axerrfeld-Rieger spectrum or Alagi lie syndrome.
Treat glaucoma vmen identified.
Glaucoma ~s!(should always be recognized except
SecondUne in Alagille syndrome where there does not appear to
Treat assodated syndromlc abnonna lltles as be a glaucoma risk.
indicated.
549
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
Daniel Warder
Edward Moss
Stephanie Baxter
~ BASICS
PATHOPHYSIOLOGY Descemet's membrane thickening in sheets and
Abnormalities in Descemet's membrane and in bands, sometimes with focal protrusion through the
endoltlelial cells resu It in posterior corneal pathology endoltlelium
DESCRIPTION such as vesicular lesions. band lesions. and irregular Corneal stromal and epithelial edema usually
Posterior polymorphous corneal dystrophy (PPM D or opacities. These may cause symptoms or interfere with absent, however may develop in advanced cases
PPCD) is an inherited corneal disorder characterized the visual axis. lridocorneal adhesions or PAS
by alterations in Descemet's membrane and corneal Elevated intraocular pressure {lOP)
endothelium, typically bilaterally but often ETIOLOGY
Remains unknown. Findings are typically bilateral; however, there may
asymmetric.
be a marked asymmetry between eyes, and
Many patients wiltl PPM D are asymptomatic. The COMMONLY ASSOCIATED CONDITIONS occasionally may present unilaterally.
clinical course varies from slowly progressive to Glaucoma
aggressive disease, which may lead to -Glaucoma is reported in cases of PPMD with DIAGNOSTIC TESTS & INTERPRETATION
vision-threatening complications necessitating peripheral anterior synechiae {PAS) as well as with Lab
surgical intervention. open angles. No lab investigations are currently available for the
Pediatric Considerations Case reports document PPMD in association with diagnosis of the condition.
Consider investigating for PPMD in children with keratoconus, keratoglobus, Terrien's marginal Imaging
strong family history. degeneration. Initial approadl
In some rare cases, stromal and epithelial edema PPMD can usually be diagnosed clinically based on slit
may be present at birth, with the possibility of
anterior corneal scarring.
~ DIAGNOSIS lamp examination, without the need for further
diagnostic tests.
HISTORY Follow-up & special considerations
ALERT Usually asymptomatic; however more severe cases Confocal microscopy can demonstrate characteristic
Failure to treat advanced, vision-threatening cases may present with photophobia, foreign body changes of PPMD, thus aiding in its diagnosis {1)[C].
in children may result in form-deprivation sensation, and/or decreased visual acuity due to This modality is potentially useful when slit lamp
amblyopia. stromal and epithelial edema secondary to biomicroscopic view of posterior cornea is obscured
endothelial decompensation. by stromal edema.
EPIDEMIOLOGY Family history should be assessed. Specular microscopy may be useful in identifying the
lnddence PHYSICAL EXAM characteristic vesicular changes and to help
Very rare. with exact incidence and prevalence The following may be observed on slit lamp differentiate PPMD from other posterior corneal
unknown biomicroscopy: dystrophies {1)[C].
RISK FACTORS Individual or grouped corneal vesicles seen at the Diagnostic Procedures/Other
Genetia level of Descemet's membrane, with or without Tonometry is important because of the association
Autosomal dominant inheritance, with multiple characteristic halo" of PPM D with glaucoma.
genetic loci identified: Polymorphous or linear posterior corneal opacities Pachymetry can be useful to indirectly measure and
PPCD 1-20p11.2-q11.2-unknown gene { rail road tracks") follow endothelial function.
PPCD 2-1 p34.3-p32.3---<ellagen type VIII alpha 2 Examination of family members may be useful in
(COL8A2) establishing pedigree and confirming diagnosis.
PPCD 3-1 Op11.2-two-handed zinc finger
homeodomain transcription factor 8 (ZEB1)
550
POSTERIOR POLYMORPHOUS CORNEAL DmROPHY
Pathological Findings SURGERY/OTHER PROCEDURES 3. Basalt 51(. Dl!sCI!ml!t stripping and endothelial
I
Irregular thlcb!nlng of poste~or collagenous layer oi Penetrating keratoplasty (PK) has been the keratoplasty In endothelial dysfunctions:
Descemet's with focal protrusion through the treatment oi cl1olce In adva need PPMD. Three-month results In 75 eyes.lnd J Dphrh
endothelial cell layer. Descemet's stripping endothelial keratoplasty 2008;56:291-296.
Interspersed atropl1 ic and normal corneal (DSE K) is gaining popularity in treating posterior
endotheli urn. corneal pathologies.. and it has proven effective in
Multiple layers of endothelial ti!IIS. with cases of advanced PPMD (2)[C). (3)[CI) ADDITlONAL READING
ultrastructural features oi twlcal epithelial cells Laser and aqueous flltradon procedures may be Laganowski HA, Sherrard ES, Kerr Muir MG. The
(sucl1 as tonofilaments. cytakeratin, desmosomes. indicated in cases associated with refractory posterior corneal surface in posterior polymorphous
and abundant microvillij, present histologically as glaucoma. dystrophy: A specular miaoscopical study. Cornea
stratified squamous epithelium. 1991;10:224-232.
DIFFERENTlAL DIAGNOSIS ONGOING CARE Weiss JS, Moiler HU, Uscl1 W, et al. The IC3D
lrldocorneal epithelial (ICE) syndrome classification of the corneal dystrophies. Comea
- useful dlfferendadng factors: PPMDIs general~ PROGNOSIS 2008;27(Suppl 2):S1-542.
nonprogressive and familial, unlike ICE Usually asymptomatic or only slowly progressive and
Fuchs' endothelial dystrophy therefore only rarely requires surgical intervention.
Early-onset congenitaI hereditary endothelial Glaucoma and lrldocorneal adhesions are associated . CODES
dystrophy-in the rare cases that present at birth with poor PK outcomes.
Tears In Descemet's membrane ICD9
rl TREATMENT
MEDICATION
REFERENCES
1. Szaflik JP, Ko-Codzieiska U, Udziela M, et al.
Posterior polymorphous dystrophy--Changes in
371.58 Other posterior corneal dystrophies
CLINICAL PEARLS
Hypertonic saline drops can be used to prevent and corneal morphology in confocal microscopy. KJin PPMDis a rare condition.
treat corneal edema. Oczna 2008;11 0:252-258. Most affected patients are asymptomatic.
lOP-lowering drops should be used in cases with 2. Chen ES, Terry MA. Shamle N, et aI. Be sure to sal!l!n for glaucoma.
associated glaucoma. Descemet-strlpplng automated endothelial Consider DSEK for padents wl1o are vlsua lly
keratoplasty-Six-month results in a prospective symptomatic req ulrlng Intervention.
study of 100 eyes. Cornea 2008;27:514-520.
551
POSTERIOR STAPHYLOMA
Michael J. Bartiss
~ BASICS ETIOLOGY
Development of the optic disc (around 4 months
gestation) thought to be completed prior to the onset
Morning glory disc anomaly (funnel-shaped
excavation of the posterior fundus that incorporates
DESCRIPTION of the development of the staphylomatous process the optic disc)
Rare. typically unilateral anomaly characterized by a (which occurs around 5 months gestation) Optic disc coloboma (deep excavation occupying
deep fundus excavation surrounding the optic disc most of the disc, typically sparing the superior
Optic disc appears at the bottom of excavation. Nystagmus, strabismus, head turn aspect)
Optic disc may appear normal or demonstrate
Some unilateral cases associated with contralateral
temporal pallor.
congenital ocular abnormality - TREATMENT
Walls and margins of excavation demonstrate
atrophic pigmentary changes in the choroid and
retinal pigment epithelium.
May contain contractile elements
~ DIAGNOSIS MEDICATION
No medical treatment of the primary disorder
Visual acuity is typically significantly reduced, HISTORY ADDITIONAL TREATMENT
although cases with normal visual acuity have been Congenital defect General Measures
reported. PHYSICAL EXAM Impact resistant glasses for protection of the
Affected eyes typically emmetropic or slightly myopic Full ocular examination including careful evaluation noninvolved eye if subnormal visual acuity is
Centrocecal scotomas frequently occur in affected of the optic discs and evaluation for concomitant demonstrated or suspected in the involved eye. or in
eyes with decreased vision. treatable amblyopia cases of bilateral involvement.
Not associated with glial or vascular abnormalities Careful evaIuation of the contralateral eye Issues for Refe"al
of the disc DIAGNOSTIC TESTS & INTERPRETATION Low vision evaluation and support as indicated in
cases with significant bilateral involvement
RISK FACTORS Pathological Findings
Presence of contractile elements reported Retinal surgery for detachment
Genetics
Sporadic
PATHOPHYSIOLOGY
Staphylomatous defect surrounding the optic disc
552
POSTERIOR STAPHYLOMA
COMPLEMENTARY & ALTERNATIVE PATIENT EDUCATION Pollack S. The morning glory disc anomaly:
I
THERAPIES Low llision intervention in patients with significant contractile movement, classification, and
None prawn or Indicated bilateral Involvement embryogenesis. Doc Ophrha/mo/1987;65:439-460.
SURGERY/OTHER PROCEDURES PROGNOSIS Brown G, Tasman w. Congenital anomalies of rhe
Broad range of best corrected visual aaJity optic disc. New Yoric Grune & Stratton,
Amblyopia therapy and strabismus surgery as
indicated 1983:178-183.
Relatively high risk of subsequent retinal detachment
Retinal detad1ment surgery as indicated COMPUCATIONS
Retinal detachment . CODES
$ ONGOING CARE
ICD9
FOU.OW-UP RECOM MENDA110NS ADDITIONAL READING 368.41 Scotoma involving central area
Increased risk of acquired visual loss via retinal 377.49 Other disorders of optic netVe
Nuai. Paulo in ophthalmic genetics. 1990;11(2):
detachment dictates regular follow-up with careful 379. 12 Staphyloma posticum
143-14.5.
retinal evaluation
Brodsky MC, Baker RS, Hamed LM. Pediatric
As needed for amblyopia and strabismus monitoring
and treatment
neuro-ophthalmology. New York: Springer,
1996:41, 55, 177, 413. CLINICAL PEARLS
Low vision care ~ approp~ate
Work to maximize visual potential. espedally in
llatlent Monitoring bilateraI cases
PsychosodaI concerns about appearance if
significant strabismus is also present Pratective eyewear in unilateral cases
Monitor for possible development of acquired loss of
vision from retinal detachm em.
553
POSTERIOR VITREOUS DETACHMENT
Brian P. Connolly
liquefaction of the vitreous gel is clinically evident
as optically empty vacuoles within the vitreous
Early-stage PVD
- Epiretinal membrane
DESCRIPTION cavity. This may be accompanied by coalescence of - Macular microhole
A posterior vitreous detachment (PVD) is the collagen fibrils into visible strands. which may be - Foveal red spot
physical separation of the cortical vitreous from the visualized ophthalmoscopically. - Idiopathic macular hole
intemallim iting membrane (ILM) of the retina. Decreased strength of the vitreoretinal interface is - Pseudooperculum
With improved imaging modalities such as also believed to precipitate PVD. - Inner lamellar macular hole
high-resolution optical coherence tomography - Vitreofoveal traction (traction cystoid macular
(OCT), earlier stages of structural partial PVD are ETIOLOGY edema)
readily detectable before symptoms occur and Vitreous liquefaction is detectable from early - Vitreomacular traction syndrome
before a complete PVD is present. childhood and increases with age. -Traction diabetic macular edema
Significant vitreous liquefaction together with loss of - Myopic traction maculopathy
EPIDEMIOLOGY cohesion of the vitreoretinal interface combine to - Neovascular age-related macular degeneration
Incidence facilitate PVD formation. - Vitreopapillary traction syndrome
The incidence of PVD increases with age. In the earliest stages of a PVD, the vitreous and the late-stage (complete) PVD
Although some estimates have indicated that 50% retina gradually separate. This process often starts in - Retinal or optic disc hemorrhage
of phakic eyes have PVD by the age of 50 years, this the macular region, but often spares the fovea until -Vitreous hemorrhage
has been somewhat disputed in autopsy studies. a later stage. - Retinal tear
RISK FACTORS Once the posterior vitreous face degrades - Rhegmatogenous retinal detachment (1)
Increasing age. sufficiently, liquefied vitreous can pass abruptly
~ DIAGNOSIS
through even a minute defect in the posterior
Axial myopia
vitreous face into the subhyaloid space and this is
Trauma known as an acute PVD (2).
Inflammation In areas where the ILM is especially thin (i.e., optic Ophthalmoscopy
Pseudophalda nerve, foveola, vitreous base, retinal vessels), the -Visible Weiss ring seen with slit lamp
Apha~ia vitreoretinal interface is especially strong. These biomicroscopy or with indirect ophthalmoscopy.
Prior surgeries (especially cataract extraction areas are often the last to separate from the hyaloid -Apparent separation of the vitreous from the
complicated by vitreous loss) face. posterior pole without the presence of a Weiss
Vitreous hemorrhage A Weiss ring is a clinical sign that confirms ring may be misleading and may simply represent
separation of the vitreopapillary junction, and it vitreous schisis.
Genetics Ancillary testing
Axial myopia (caused by both genetic and typically confirms the completion of the PVD.
- Spectral domain OCT nicely visualizes the
environmental factors) correlates with an earlier posterior hyaloid face in PVD.
onset of vitreous liquefaction and PVD. - Ultrasonographic confirmation of detachment of
An earlier onset of PVD and PVD-related the peripheral vitreous together with the presence
complications are seen in Stic~ler's and Marfan's of a Weiss ring is also confirmatory of PVD in
syndromes due to anomalous collagen metabolism. equivocal cases and is used to confirm onset of
PVD for research purposes.
-Vitreous hemorrhage and/or the presence of
pigment within the vitreous are highly predictive
of a retinal tear (70%).
554
POSTERIOR VITREOUS DETACHMEIT
HISTORY PROGNOSIS
I
Patients with early PVD can present w1tll photopslas . TREATMENT After an uncomplicated PVD, tile prognosis Is
as the vitreous gradually separates from the retina. excellent.
Patients with a personal or family history of retinal ADDITIONAL TREATMENT In some cases. as in eyes with vitreomacula r
tears or detachments merit espedally careful Genw11f Musul'fiS traction, visual acuity may improve.
examination as they have an Increased risk oftears Carelul extended ophthalmoscopy should be After a complicated PVD U.e., with a retinal break),
being present. performed in those patients who report symptoms of there is an elevated risk of additional tears otcUrring.
PHYSICAL EXAM PVD or who are noted to have a PVD. When a complicated PVD occurs in one eye, the
Indirect ophthalmoscopy with scleral depression SURGERY/OTHER PROCEDURES fellow eye has a higher risk of romplications from
Slit lamp biomicrosmpy For unmmplicated PVD, no treatment is necessary. PVD likely due to the nature of the vitreoretinal
interface.
Contact lens biomicroscopy When a retinal tear or detachment Is present.
-Goldman 3 mirror lens prompt treatment is imperative. COMPUCAnONS
- Widefield rontact lens Rarely, pars plana vitrectomy may be offered to Retinal tears
DIAGNOSnC TESTS & INTERPRETATION alleviate severe PV!Helated symptoms; however, Rhegmatogenous retinal detachment
this Is the exception. See Commonly Associated Conditions above
Diagnostic l'raaHiures/Other
Ultrasonography
- B-scan ultrasonography should be considered in ONGOING CARE REFERENCES
cases where media opacity precludes an adequate
clin icaI examination. FOLLOW-UP RECOMMENDAnONS 1. Foos RY, Wheeler NC. Vitreoretinal juncture.
- B-scans are also used in the mntext of dinical Prompt evaluation by an ophthalmologist or Synchysis .senilis and postior vilrl!ous detachlll4!nl.
trials to accurately document the presence or optometrist when symptoms of acute PVD occur Ophthalmology 1982;89(12):1 502-1512.
absence, as well as stage, of PVD. Prompt referral to an ophthalmologist skilled in the 2. Johnson MW. Posterior vitreous detachment:
00 treatment of retinal tears and/or detachments In the evolution and mmplications of its early sta!JI!S. Am
- 00 (espedally spectraI domain OCT} can be used event that one is detected J OphthalmoJ 201 0;149(3):371-382 e1.
to document the presence or absence and the PAnENT EDUCAllON
progression of ea~y PVD.
After an arute PVD, patients are often significantly
Pathological Findings bothered by floaters and flashes. tt is often 8 cooEs
After PVD, up to 44% of patients at autopsy have reassuring to let patients know that symptoms will
been demonstrated to have residual hyalocytes typically lessen within months. ICD9
present on the macular surface. Patients should be educated to repon the symptoms 379.21 V'rtreous degeneration
DIFFERENnAL DIAGNOSIS of a retinaI tear or detachment should they occur.
SeeAssociated Conditions. CLINICAL PEARLS
The presence of a vitreous hemorrflage and/or
pigmented clumps with PVD is highly suspicious for
retinal tears and should prompt careful examination.
A Weiss ring provides d1nlcal confl rmatlon of
mmplete PVD.
555
PREGNANCY AND OPHTHALMIC DISEASE
Chirag P. Shah
~ BASICS
EPIDEMIOLOGY - HELLP: bilateral serous retinal detachment,
l'revillenc:e subretinal yellow-white opacities, vitreous
Preeclampsia occurs in 5% of pregnancies, typically hemorrhage
DESCRIPTION after 20 weeks of gestation and in primigravidas (first - Occlusive vascular disorders: retinal artery and
Various ophthalmic conditions are associated with pregnancy). vein occlusions, nerve fiber layer infarcts, retinal
or exacerbated by pregnancy. hemorrhage and exudation, Purtscher~ike
- Refractive changes: transient loss of RISKFAOORS retinopathy with multiple nerve fiber layer infarcts
accommodation; increased corneal thickness. PIH risk factors: first and multifetal pregnancies, around the optic nerve associated with TTP
edema, and curvature; decreased corneal extremes of maternal age, mothers with vascular - Ocular DIC: hemorrhage. tissue necrosis. serous
sensitivity disease retinal detachments, underlying retinal pigment
- Preeclampsia or pregnancy-induced hypertension DIC risk factors: complicated abortions. abruptio epithelium (RPE) alterations
(PI H): marked by hypertension, proteinuria, placenta, severe preeclampsia, and retained dead - Purtscher-like retinopathy: widespread nerve fiber
peripheral edema. Eclampsia also includes fetus. layer infarcts with or without hemorrhage
seizures. Symptoms include headache and blurred Diabetic retinopathy: Increased risk of progression if -Diabetic macular edema: cystic macular edema in
vision. Hypertension can lead to cortical blindness. longer duration of preexisting diabetes, poorer foveal region often associated wilt!
- HELLP syndrome: hemolysis, elevated liver glycemic control before and during pregnancy, rapid microaneurysms and hard exudates
enzymes. and low platelet counts. Occurs in 10% normalization of glucose levels during pregnancy, - NPDR: dot-blot retinal hemorrhages,
of patients with severe PI H. severity of retinopathy at conception, and presence microaneurysm, venous beading, exudation,
- Occlusive vascular disease: due to the of concomitant hypertension. macular edema, intraretinal microvascular
hypercoagulable state of pregnancy. Can lead to abnormalities
GENERAL PREVENTION
artery or vein occlusions, disseminated Prenatal care to monltnr for hypertension, - PDR: NPDR plus neovascularization of optic nerve,
intravascular coagulopathy (DIC), and thrombotic elsewhere in the retina, iris, or angle
hyperglycemia, and proteinuria
thrombocytopenia purpura (TIP; thrombus - CSCR: serious retinal detachment without
formation, hemolytic anemia. ltlrombocytopenia. PATHOPHYSIOLOGY hemorrhage, subretinal exudation is more
neurologic changes, fever, renal dysfunction). Serous retinal detachments in PIH is felt due to common (90%) than in nonpregnant females
Ocular DIC has widespread small vessel choroidal ischemia. (<20%), RPE irregularities
thrombosis, particularly in the choroid. Cortical blindness in PIH is due to cerebral arteriolar
-Amniotic fluid embolism: can occur during labor, DIAGNOSTIC TESTS & INTERPRETATION
vasospasm and cerebral edema.
delivery, or the immediate postpartum period from Purtscher-like retinopaltly Is due to Lab
particulate matter from the amniotic fluid entering Initial lab tests
complement-induced granulocyte aggregation and
the maternal circulation. It can cause vascular occlusion. Urinalysis for proteinuria
cardiopulmonary failure, as well as central retinal It is unclear why diabetic retinopathy accelerates Electrolytes
artery occlusion, and is associated with 80% during pregnancy. CBC
mortality. PT/Pn
- Purtscher-like retinopathy: within 24 hours of
birth, usually associated with late complications
such as preeclampsia, pancreatitis, TTP.
~ DIAGNOSIS Follow-up It special considerations
Ophthalmic examination warranted if patient
HISTORY experiences visual symptoms
- Meningioma of pregnancy: meningiomas can
History of hypertension or diabetes? Gestational diabetes: no risk of retinopathy during
grow aggressively during pregnancy. May regress pregnancy; routine ophthalmic examination not
postpartum. Blurred vision, distortion, mkropsia, photopsias,
floaters, visual f~eld loss, headache, fluctuating needed
- Diabetic retinopathy and diabetic macular edema:
tends to progress during pregnancy usually with vision? None or minimal NPDR: minimal to no progression
varying ciegees regression postpartum. No risk of Seizures, increased urinary frequency, peripheral during pregnancy; ophthalmic examination first and
diabetic retinopathy with gestational diabetes. edema? third trimester
Nonproliferative diabetic retinopathy (NPDR) History of cortioosterold use1 Mild to moderate NPDR: progression in up to SO%
progresses in up to SO%. Proliferative diabetic during pregnancy; ophthalmic examination every
Nausea or ocular paresis? trimester
retinopathy (PDR) progresses rapidly.
- Central serious dhorioretinopathy (CSCR): PHYSICAL EXAM High-risk NPDR: progression in up to 50% during
associated with pregnancy, as well as increased Complete ophthalmic examination, including vital pregnancy; monthly ophltlalmic examination
endogenous or exogenous cortisol signs (particularly blood pressure). pupils, visual
PDR: tends to progress rapidly during pregnancy;
- Pituitary apoplexy: preexisting pituitary adenomas fields, color plates. gonioscopy (if PDR), optic nerve
monthly ophthalmic examination (1)[A]
can enlarge during pregnancy. Apoplexy is the assessment, and dilated fundus examination.
acute expansion of a pituitary adenoma due to -Preeclampsia or PIH: findings are related to HTN,
infarction or hemorrhage. Leads to acute including retinal hemorrhages, nerve fiber layer
headache, nausea, visual field loss (bitemporal infarcts, exudation, serous retinal detachment (in
hemianopia), limitation of extraocular motility 1% of preeclamptic and 10% of eclamptic
(due to involvement of cranial nerves Ill, IV. and patients), focal arteriolar narrowing and spasm,
VI, in the cavernous sinus). and/or Horner optic nerve edema. nonarteritic ischemic optic
syndrome. Sheehan syndrome is pituitary apoplexy neuropathy, and bilateral occipital lobe infarcts
of a nontumorous pituitary gland, presumably due (preeclampsia/eclampsia hypertensive posterior
to postpartum arterial spasm of arterioles encephalopathy syndrome [PEHPES])
supplying the anterior pituitary and its stalk.
556
PREGNANCY AND OPHTHALMIC DISEASE
Imaging Issues for Refel'lill mMPUCATIONS
I
If PEHPES Is suspected, check brain MRI. Findings lntl!mal medldne for hypertension and Decreased visual acuity
indude bilateral occipital lobe lesions (identical to hyperglycemic control Visual field loss
nonobsretric hypertensivl! encephalopathy) Endocrinology for hyperglycemic management and Ophthalmoplegia
If pituitary apoplexy suspected, emergently check for pituitary apoplexy Vitreous hemorrhage
brain MRI. Hemorrhage within the sella Is lsolntense Neurology for seizures with edampsia, for Tractional retinal detachment
or hypointense on Tl-weighted images within ii rst neurologic iindings with meningiomas. and for Neovasrular glaucoma
3-5 days. In nonhemorrhagic (Ischemic) pituilllry PEHPES.
apoplexy, MRI reveals an enlarged pituitary gland Neurosurgery for pituitary apoplexy
bulging under the optic chiasm with peripheral Ophthalmologist orvitreoretinal specialist for REFERENCE
enhancement surrounding a hypointense gland diabetic retinopathy, diabetic macular edema, CSCR,
(pituitary ring sign). Purtsche(s retinopathy. 1. Chew EY, Mills Jl, Metzger BE, et al. Metabolic
If meningioma is suspected, check MRI of brain control and progression of retinopathy. The
andfor omits. SURGERY/OTHER PROCEDURES diabetes in early pregnancy study. National
Neurosurgical tr.~nssphenoidal surgical decompression Institute of Child Heahh and Human Development
Di1gnostk Ptocedul'tiS!Other of pituitary apoplexy. Diabetes in Early Pregnancy Study. Diabetes Cal'!!
OCT to evaluate for CSCR or marular edema 1995;18:63 1~37.
Intravenous fluorescein dye crosses the placenlll and IN-PATIENT CONSIDERATIONS
is present in breast miIk for at least 76 h. No lnlflll Stablllz1tlon
additional adverse effects have been noted In Control blood pressure In PIH ADDITIONAL READING
pregnant women nor teratogenic or embrycgenk Medically slllbilize patients with pituitary apoplexy,
effects in ani mal studies. M051 vitreonetinal administer high-dose corticosteroids, l!llilluate Schultz KL. Bimbaum AD, Goldstein DA. Orular
specialists would avoid fluorescein angiograms in pituitary hormones, electrolytes, and glucose, disease in pregnancy. Curr Ofin Ophtha/mal
pregnant women unless necessary for a sight administer appropriate endocrinologic replacement 2005;16:308-314.
threatening condition (e.g., choroidal therapy, consider neurosurgicaltranssphenoidal Sheth BP, MIeier WF. Ocular com pi!cations of
neovascularization). surgical decompression. pregnancy. Curr Ofin Ophthalma/2001;12:
lndocyanine green (ICG) dye does not cross the 455--463.
placenta and it is unknown if it's found in breast
mille. ICG has been used for nanophthalmic ONGOING CARE
conditions in pregnant woman without adverse DIET . CODES
effect on mother or fetus. Most vitreoreti nal Healthy, well-balanced diabetic diet for patients with
specialists would avoid ICG angiography in pregnant diabetes. ICD9
women unless necessary. 642.60 Edampsia complicating pregnancy,
PATIENT EDUCATION childbirth or the puerperi urn, unspecified as to
DIFFERENTlAL DIAGNOSIS Contact your obstetridan or seek emergency care if
For PEH PES: posterior d raJ lation stroke, intracranial episode of care
you expe~ence visual changes. blurred vision, visual 367.51 Paresis of accommodation
venous thrombosis due to coagulation disorder, field lo.ss, double vision, headac:he. nausea/vomiting,
migraine. lntraaanlal hemorrhage, Infectious cerebrltls 368.8 Other spedfied visual disturbances
or seizures.
or meningitis, tumor with hemorrhage, atypical
seizure, demyelination. PROGNOSIS
Perinallll mortality rate with PIH is 13-30%. Causes CLINICAL PEARLS
of death indude pulmonary edema, CNS
. TREATMENT hemorrhage, or cardiac. liver, or renal failure. Preg nanc:y can pred pi!lite or exacerbate several
vascular changes seen in PIH resolve postpartum. condItIons that affect vision.
MEDICATION Permanent visual change is unusual. Progression of diabetic retinopathy during
Avoid presc~blng new glasses until sevet'al weeks preg nanc:y can show variable amounts of regression
Serous retinal detachment seen in PIH usually
postpartum given the shifting refraction during resolves postpartum. Visual acuity may be affected postpartllm.
pregnancy by RPE changes. Pituitary apoplexy Is an endocrine and neurosurg leal
For preedampsla, edampsla, or PIH, treat electrolyte emergency.
CSCR usually resolves but may rea.u postpartum or
imbalances and hypertension, and deliver baby during a subsequem pregnancy. Preedampsia or PIH is relatively common (5'11. of
ADDITIONAL TREATMENT High likelihood of postpartum regression in diabetic preg nancles) and can lead to various oplrthalmIt
retinopathy manges that occur during pregnancy and neurologic iindings.
GerHffiill MNsutu
Prenatal care is important to monitor for
Treat PDR with panretinal photocoagulation (PRP)
hypertension, hyperglycemia, and proteinuria.
and follow monthly. Consider earlier PRP for severe
pr~PDR.
Observe diabetic macular edema; it often resolves
postpartum.
Consider caesarian section in PDR to prevent risk of
vitreous hemorrhage during Valsalva.
CSCR usually resolves sponlllneously.
557
PRESBYOPIA
Bruce J. Markovitz
Near refraction: With near test card at habitual
reading distance and distance refraction in place the
amount of plus power needed for clear near vision is
DESCRIPTION HISTORY determined. Range of clear near vision can also be
Presbyopia, literally old eyes. is the condition where Patients complain of gradual onset of blurred near measured and adjusted as needed. More plus moves
the ability to see clearly at near is lost due to the vision, especially with small print, dim lighting, after focus closer, but collapses range of clear near vision.
gradual loss of accommodation in the aging eye. prolonged near work or when fatigued. May also note Reducing plus moves near point further away and
difficulty changing focus from near to far. The classic expands range of clear vision.
EPIDEMIOLOGY complaint is my arms are not long enough to read Fused Jaclcson cross cylinder (JCC) test: With
Incidence anymore." distance correction in place and near target of
100% of population older than 50 years with average
age of onset at 45 years. PHYSICAL EXAM vertical and horizontal crossed lines at habitual
Distance and near acuity depends on presence of reading distance, JCC lenses introduced binocularly
Prevalence any refractive error. with red axis vertical. Add plus lenses +0.50 D
38% of U.S. population (115 million people). - Emmetropes (patients with no refractive error) and greater than expected age-appropriate add. Patient
GENERAL PREVENTION corrected ametropes (patients with refractive should report vertical lines are darkest. Reduce plus
No evidence that onset of presbyopia can be prevented error)-<lear distance vision with blurred near until reversal and horizontal lines darkest. Midpoint
or delayed with exercises, lenses. vitamins, or diet. vision where lines are equal is the amount of plus needed
- Myopes-<lear near vision at a near point in combination with patient's accommodation that
PATHOPHYSIOLOGY determined by the amount of myopia places focus on target.
Accommodative amplitude (AA) gradually decreases - Hyperopes--better distance vision than near Measuring AA:
from childhood to adulthood. From approximately 12 vision - Push up method-Measured monocularly with
diopters (D) at age 10 years to 10 Dat 20 years, 8 D - Myopic astigmatism-may have some distance correction in place. Near point of clear
at 30 years, 5 Dat 40 years, 2 D at 50 years, and 1 D improvement in near vision over distance vision vision is determined and converted to diopters
at 60 years (1 ), (2), (3)ICJ. (D= 1/M)
EnOLOGY - Min us lens to blur-Monocularly with distance
Diagnostic Procedures/Other correction in place and near card at 40 em, minus
Helmholtz theory of accommodation-The long Goal is to determine the amount of plus power, the
accepted hypothesis, published in 1855, attributes lenses slowly added until 20/40 line blurs. Amount
add, over the distance correction needed to give of minus added, +2.5 D for accommodating to
increased focusing power of the lens during comfortable clear near vision.
accommodation to relaxation of the zonules during 40 em, equals AA
Age-appropriate adds: Near adds are commonly
ciliary body contraction allowing the lens to assume
prescribed without clinical measurement.
a more spherical shape. At rest, the ciliary body ring
Prescribing the average add power appropriate for
expands increasing zonular tension on the lens
the patient's age will usually allow clear comfortable
equator flattening the lens and decreasing the
near vision for most patients. As a rule, patients are
power for distance vision. Presbyopia is attributed to
more comfortable with an add that is
the hardening of the crystalline lens with age
undercorrected compared with an add that is
preventing it from changing shape.
overcorrected. When prescribing age-appropriate
Schachar theory of accommodation-Introduced in adds consider the patient's habitual near add and
1992, attributes accommodation to relaxation of the any symptoms. The following is a guide for
anterior and posterior zonules, but increased prescribing age-appropriate adds:
equatorial zonular tension during ciliary body
contraction resulting in peripheral flattening and 4(}-45 l.OD-1.50
central steepening of the lens. Presbyopia is 45-50 1.5Q-1.75
attributed to the gradual equatorial growth of the SD-55 1.75-2.00
lens with aging effectively decreasing the working
distance of the ciliary body (4). 55-60 2.0D-2.25
60-65 2.25-2.50
65 2.50
558
PRESBYOPIA
SURGERY/OTHER PROCEDURES 4. 5chad1ar RA. Cause and treatment of presbyopia p

. TREATMENT o All surgical options for presbyopia correct!on require with a method for Increasing the amplitude of
careful patient selection and patient education. accommodation 1992;24{12):445-447, 452.
MEDICATION - LASIK: Monovision lllrrectian possible in 5. Farid M, Steinert RF. Patient selection for
FirstUne previously successful monovision lllntact lens monovision refractive surgery. Curr Opn
o As a rule, one half of AA can be used lllmfortably wearers or after successfuI monovlslon t~al (S)[C]. Ophthalmd 2009;20(4):251-254.
for extended periods. Total amount of plus power - lntraomlar lenses: With cataract surgery patients 6. Buznego C, Trattler WB. Presbyopialllrrecting
needed to read Is deterrnlned tlf the padenrs have multiple options for presbyopic lllrrection intraocular lenses. Curr Opin O{irthalmol
working distance. usually 40 an (16"), requiring o Monovlslon-For previously successful 2009;20(1 ):13-18.
+2.50 Dof power. When AA drops below 5 D, monovision C<Jntact lens wearers traditional lOts
presbyopic symptoms can ocan and additional plus can be used to achieve monovision correction.
power will be needed for near worK. For exam pie.. if
AA is 3 Dthen 1.5 Dcan be comfortably provided
o Multifocal and atcOmmodating IOL.s-Ciear
distance, Intermediate, and near vision possible.
f; coDES
toward the 2. 50 Dneeded for extended reading. Some dissatisiied patients require lens
exchange. Significant lllSt to patient (6)]C]. ICD9
Theoretically, a + 1.00 D add together with + 1.50 367A Presbyopia
D accommodation would provide the +2.50 D Sderal elq)anslon bands: lnaeases distance from
needed to allow lllmfortable extended near work. dliary body to lens equator to reverse fffect of
This additional plus power can be provided in presbyopia. lnronsistent results. Not generally CLINICAL PEARLS
several ways: accepted.
o Glasses: o Accommodative demand is greater for myopes in
- OVer-the-Cll'Jnter readers--Goad for patients contact lenses than in glasses. A prepresbyope able
without sig niflcant astigmatism or anisometropia. ONGOING CARE to read with their glasses may have presbyopic
- Single vision near Rx-For patients with good symptoms in rontacts. Oppositl! is true with
PROGNOSIS
distanCl! vision or unable to adjust to bifocaIs. hyperopes.
Once presbyopic symptoms begin, the process
Calculated by adding the distance Rx and near progresses until all accommodation Is lost. usually o Do not add an additionaI +0.25 Dto desired add
add together. above 65 years of age. At this point, a full add of for progressive lenses. This practice was popular in
- Bifocals-Advantage of allowing clear distance +2.50 is required for the average reading distance of the past when It was difficult for patients to get the
and near vision without two pairs of glasses. Even 40 an. Adds greater than +2.50 wtll only decrease full reading power at bottom of progressive
adva mageous for emmetropes allowtng dear the working distance and should not be used unless a segment. Improved progressive lens designs with
distance vision with aut need to remove reading reading distance of less than 40 an is desired due to larger full power reading area at bottom have
Rx. aOJ ity less than 20/40, oct\lpational needs, or patient ellmlnated the need for thIs practice.
- Lined bifocal--One near focal power IImIts has a shorter habitual reading distance. o Any near testing must be done prior to dilation. An
intermediate vision. Cosmetically less desirable. obvious but often forgotten point.
o Progressive bifocal-Add power increases
gradually from distance to full near power at REFERENCES
bottom. Provides clear vision at all distances.
1. Danders FC. Aclllmmodation and refraction of the
Cosmetically more acceptable. Can be harder to
adjust to, espedally for previous lined bifocal eye. The New Sodety. London 1864:204-215.
wearers. Expensive. 2. Duane A. Studies in monocular and binow lar
accommodation with their clinical applications. Am
SecondUne J O{irtha/mo/1922;5:865.
o Contacts:
3. Chattopadhyay DN, Seal GN. Amplitude of
- Monovlslon--Domlnant eye corrected for distance aceom modation in different age groups and age of
and nondominant eye lllrrected for near. onset of presbyopia in Bengalese population.
Compromised darity and depth perception. High Indian1 Oph fhalmo/1984;32:85-17.
percentage of failures.
- Blfocal contacts-Compromised darlty and depth
perception. High percentage of failures although
improved newer lens designs result in greater
number of satisfied patients.
559
PRESEPTAL CELWUTIS
Anthony W. Farah
Alan R. Forman
~ BASICS
Adjacent infection Lab
- Most commonly from the spread of infection from Initial lab tests
DESCRIPTION paranasal sinuses In all cases, obtain a culture and Gram stain of any
An infection of the eyelid and surrounding skin - Other infectious sources include hordeolum, acute open wound or drainage.
anterior to the orbital septum. By definition, the chalazion, dacryocystitis, dacryoadenitis, teeth or In severe cases or with constitutional symptoms,
infection does not involve intraorbital tissue. gums, or impetigo obtain a CBC count with differential, two sets of
Synonym: Periorbital cellulitis Trauma blood cultures, and CT scan (see "Imaging").
- Insect or animal bites, lacerations, puncture If patient exhibits CNS signs, obtain CSF after an
ALERT wounds, or retained foreign bodies intracranial mass is ruled out.
Exclude orbital involvement early in the evaluation. Causative organisms
In preseptal cellulitis, vision and ocular motility are Follow-up & special considerations
-The most common bacterial agent identified in If patient deteriorates clinically, consider orbital
normal with absence of both proptosis and pain children is 5. pneumoniae followed by S. aureus
with motion. The distinction is important as orbital cellulitis and hospital admission.
and S. pyogenes.
cellulitis can be a vision and life-threatening - Prior to introduction of the H. influenzae type B Imaging
infection. vaccine, H. flu was the most common cause of Initial approach
preseptal and orbital cellulitis. CT scan, with contrast if possible. of the brain and
Pediatric Considerations -With a human or animal bite, suspect anaerobic, orbits (axial and coronal views) in any one of the
Preseptal cellulitis can lead to visual impairment in non-spore-forming bacteria following scenarios:
very young children if prolonged eyelid edema leads - Polymicrobial infections are more common in older - Possible orbital involvement or proptosis
to occlusion amblyopia. patients (> 15 years) and in open wounds. -A history of significant trauma
- Methicillin-resistant 5. aureus (MRSA) must be - Concern of an orbital or intraocular foreign body
If physical exam is difficult, imaging may be required
considered in at-risk populations, especially with -There is high suspicion for subperiosteal
to rule out orbital cellulitis. After trauma, if the eye
trauma. abscess/paranasal sinusitis/cavernous sinus
cannot be adequately examined, an exam under
- Fungi (mucormycosis, aspergillosis) possible in thrombosis/cancer.
anesthesia is mandatory to rule out a ruptured
imm unocompromised patients Follow-up & special considerations
globe.
- Clostridial gas gangrene if soil contamination Consider ordering a repeat or initial CT scan if the
Ask about vaccinations, especially Haemophilus patient does not improve in 24--48 h with appropriate
influenzae type B. COMMONLY ASSOCIATED CONDITIONS
A concurrent or recent upper respiratory tract antibiotic ttlerapy or if the patient begins to clinically
EPIDEMIOLOGY infection (U Rl), especially sinusitis (2) deteriorate
Predominantly affects the pediatric age group Chronic staphylococcal blepharitis DIFFERENTIAL DIAGNOSIS
- Most younger than 5 years; mean age is 21 Anthrax and smallpox vaccinations have rarely been Orbital cellulitis
months (1) linked to preseptal cellulitis (3). Allergic edema of eyelids
Occurs more commonly in the winter months Viral conjunctivitis
~ DIAGNOSIS
No known predilection for gender or race Erysipelas
RISK FACTORS Necrotizing fasciitis (Gr A Beta hemolytic Strep)
Adjacent infection or trauma (see "Etiology") HISTORY Cavernous sinus thrombosis
Sinusitis Recent trauma, surgery, or nearby infection Herpes simplex or herpes zoster blepharitis
Surgical procedure near the eyelid Recent URI, sinus infection, or ear infection Idiopathic orbital inflammatory syndrome
Oral procedures Pain with eye movement or change in vision Ottler possibilities: thyroid eye disease, leuk.emic
Poorly controlled diabetes mellitus Constitutional symptoms (e.g., fever, nausea) infiltrates, blepharochalasis, and autoimmune
lmmunocompromised patients Vaccination status (especially H. Flu type B) inflammatory disorders
GENERAL PREVENTION Prior cancer diagnosis
Childhood vaccination for H. influenzae type B PHYSICAL EXAM
Proper detection and early treatment of sinus, Vital signs
dental, ear, and other adjacent infections Comprehensive ocular examination
- Note any restrictions of ocular motility or
PATHOPHYSIOLOGY
proptosis. suggesting an orbital process.
Preseptal cellulitis is an infection anterior to the
- Record visual acuity, pupillary reaction, eye
orbital septum. The orbital septum largely prevents
the spread of infection to the orbit and CNS. Any pressure, and optic nerve head appearance.
preseptal infection can extend back into the orbit. Palpate the periorbital area and the head and neck.
lymph nodes.
Routes of infection include direct inoculation from
trauma or the spread of an adjacent infection. Note any tenderness, swelling, warmth, redness, or
discoloration of the eyelid.
Streptococcus pneumoniae is the most frequent
pathogen associated with sinus infection while Assess for neurological deficits.
Staphylococcus aureus and Streptococcus pyogenes Check for meningeal signs.
predominate when infection arises from local Thorough examination of the globe is required in all
trauma. patients with any history of trauma to rule out a
ruptured globe.
560
PRESEPTAL CELLULITIS
I
. TREATMENT Initial Stabiliziltion
1. Sadovsky R. Distinguishing periolbital from orbital
MEDICATION Patients with severe cases or less than 1year of age cellulitis. Am Fam Physidan 2003;67:1327.
should be initially managed as an olbital cellulitis 2. BabarTF, Zaman M, Khan MN, et al. Risk factors of
FirstUne
with a CT scan, IV broad-spectrum andblotlcs, and preseptal and orbitaI cellulitis. J Call Physidans
o Hospitalize patients younger than 1 year.
hospital observation (6)[8 ]. SurgPak. 2009;19(1):39-42.
o Milder cases of preseptal cellulitis in adults and
dllldren older than 1 year with no signs of systemic - IV antibiotic choices indude ampicilli nlsulbactam 3. Sobol AL. Hutcheson KA. Cellulitis. preseptal.
IDxidty, adequatl! vaccination status. and who are or ceftriaxone. Consider local trends in eMedidne, April 2008.
reliable for follow-up visits can be managed on an antimicrobiaI therapy. If MRSA is suspected or if 4. Starkey CR. Steele RW. Medical management of
outpatient basis (4)[C).Initial daily follow-up is patient is allergic to penidllin, consider orbital c:elluIitis. Pediatr Infect Dis J 200I ;20:1002.
required (see "Follow-up Recommendations") vancomycin. 5. Howe L. Jones NS. Guidelines for the management
- Amoxicillinfdavulanate (e.g., Augmentin) am be - Choice of spedflc IV andblotlc depends on the of periorbital cellul itisfabscess. Clin OtoJaryngol
used in children and adull$. results of Gram stain and culture. Allied Sd 2004;29:725.
o For children, 20-40 mg/kglday PO t.l.d. For AdmissiOIJ Criteria 6. Uzcategui N, Warman R, Smith A. et al. Clinical
adults, 500 mg PO q8h practiCE guidelines for the management of orbital
- Trimethoprim/sulfamethoxazole (e.g., Bactrim) Children younger than 1 year (6) [8] cellulitis. l Pedlatr O{i!rha/mal Strabismus
should be amsidered in MRSA suspected o Orbital c:ellulitis is suspected 1998;35:73.
infedions or in penid llin allergic patients. o Patient appears toxic
o For children, dosage is B-12 mg/kglday Patient may be noncompliant with outpatient
trimethoprim with 4(}--6(1 mgikgfday treatment or follow-up ADDITIONAL READING
sulfamethoxazole PO b. i.d. o Clinical deterioration or no noticeable improvement
o For adults, 160-320 mg trimethoprim \'lith E~lers JP, Shah CP, eels. The Wills eye manual: OmO!!
after 48 h of oral antibiotics and emergency room diagnosis and treatment of
800-1 ,600 mg sulfamethoxazole PO, b. i.d..
Doxycycline Is an alternative In nonpregnant Nursing e)e disease, 5th ed. 1'11iladelphia, PA: Lippincott
adults only (1 00 mg PO, b.i.d.) Continue monitoring vitals and symptoms. Williams&. Wilkins, 2008:139-141.
- Recommended duration of broad-spectrum oral Alert physician if patient develops worsening signs Tasman W, Jaeger EA, eds. Duane's ophrha/malogy,
antibiotics is 7-10 days (S)[CI. of toxicity, orbital involvement, changes in visual 15th ed. Philadelphia, PA: Lippincott Williams &
awity, or neurological signs. Wilkins, 2009: Volume 2, Chapter 34; Volume 4,
SecondUne Chapter 25.
o For children or adults with penicillin allergies, Discharge Criteria
trimethoprimfsulfamethoxazole can be substituted IV antibicrtits can be switched ID comparable oral
(see "First Line for dosing) antibicrtics and monitored on an outpatient basis Q See Also {Topic, Alprllllm, Electronic
o For adults only, moxifloxadn (400 mg PO daily) (an after sign lflcant Improvement Is observed. ~ MICiil Ellmlnt)
be substituted. o Patient should be afebrile for a minimum of 24 h
before switching ID oral antibicrtics or afebrile for Orbital cellulitis
ADDITIONAL TliEATMENT
GfHHH'al MNsu,.s
o Hot compresses
o Incision and drainage of localized eyelid abscess if
48 h if blood tu ltures were positive.
ONGOING CARE
if coDES
present (see surgery") ICD9
FOLLOW-UP RECOMMENDATIONS o 373.2 Chalazion
Issues for Re,.,al o Dally outpatient visits are necessary untll consistent o 373.1 1 Hardeolum extern urn
Ophthalmology consultation is advised for moderate improvement is demonstrated, t11en followed evecy
ID severe cases and aII pediatric cases. o 376.01 Orbital cellulitis
2-7 days untii!Dtal resolution.
o ENT mnsultation is suggi!Sied for medical and o Cell phone photographs may be useful during this
surgical treatment of sinusitis. pe~od for monitoring.
CLINICAL PEARLS
Addltl011al Therapies Patlfmt Monitoring
If patient is on broad'ipectrum antibiotics and Observe for signs of worsening Infection, orbital Preseptal c:ellulitis should be distinguished from
flocculence or abscess detected, then low-dose, cellulitis, andfor systemic toxicity orbital cellulitis early In padent evaluadon.lf the
short-<luration adjunct corticosteroids can be given in distinction is unclear, a CT scan should be done to
the absence of retained foreign body. PATIENT EDUCATION rule out orbital involvement
Patients are advised to receive immediate care if they
o Broad-spectrum oraI antibiotic therapy covering
SURGERY/OntER PROCEDURES eJii)eriente systemic toxicity, worsening visual acuity, gram-positive organisms can be provided on an
o A lid abscess may complicate preseptal cellulitis and or pain with eye movements.
can be surgically drained in an outpatient setting outpatient basis provided that the patient is older
with alert cooperadve patients. PROGNOSIS than I yea~ has had adequate immunizations, has
Prognosis for complete recovety is excellent in patients no signs of systemic toxldty, and Is considered
- Pus obtained from wounds or abscess cavities:
directly inoculate oniD blood agar, chocolate agar, identified and treated promptly. rei iable for daily follow-up visits.
and an anaerobic medium o Patients younger than 1 year or with signs of severe
COMPLICAnONS
Infection may spread along tissue planes and preseptal oelluiiUs or systemic toxldty should be
managed as an inpatient witi1 a CT scan and IV
progress to orbital cellulitis. su bperiosteaI absc:ess,
olbital abscess, intracranial infection, and cavernous broad-spectrum antibiotics.
sinus thrombosis.
lmmunocornpromised patients are more Iikl!ly ID
develop potentially fatal fungal infedions and
should be monitored more aggnessively.
561
PRESUMED OCUlAR HISTOPlASMOSIS SYNDROME
Anita P. Schadlu
Ramin Schad/u
~ BASICS
GENERAL PREVENTION Active and/or regressed CNVM may be seen in
Avoiding exposure to H. capsula tum by avoiding sites association with POHS. A fibrovascular disciform scar
of possible contamination such as excavation sites, old may also be seen as a remnant of prior CNVM.
DESCRIPTION buildings being demolished, bird habitats, and -The development of CNVM is more likely in eyes
Presumed ocular histoplasmosis syndrome (POHS) is bat-infested caves may prevent infection. with macular "histo spots.
an inflammatory condition associated with systemic Active areas of choroiditis may be seen.
infection by the fungus Histoplasma capsu/atum. It PATHOPHYSIOLOGY
may be unilateral or bilateral. Focal infection of the choroid witll H. capsu/atum DIAGNOSTIC TESTS & INTERPRETATION
- POHS is most common in tile Ohio and Mississippi and/or a chronic reaction to immunogenic remnants Lab
River valleys. where H. capsulatum is endemic. of the organism causes the choroidal lesions in laboratory testing is not generally indicated in
POHS. patients with POHS, since it is a clinical diagnosis.
Geriatric Considerations -Very little patllologic evidence exists implicating Skin testing with histoplasmin antigen is generally
Elderly patients with coexisting age-related macular H. capsulatum in POHS. no longer performed.
degeneration should be monitored closely due to the
ETIOLOGY In patients with ocular disease only, serum and/or
increased risk of choroidal neovascular membrane
H. capsulatum has been implicated by epidemiologic urine antigen testing for H. capsulatum is unlikely to
(CNVM).
studies and antigen skin testing in tile U.S. yield positive results.
EPIDEMIOLOGY However, a study in the Netherlands found no Serum antibodies to H. capsulatum can be detected
lnddence immunologic evidence to support a relationship in patients with a history of exposure to the
Incidence of new cases of POHS is difficult to between the clinical findings of POHS and H. organism.
determine but has been approximated at 2 per capsulatum or otller endemic organisms (2). Imaging
100,000 per year in an endemic area. COMMONLY ASSOCIATED CONDITIONS Initial approach
Prevalence CNVM, which can be vision threatening Imaging tests are indicated to confirm the presence
The prevalence ranges from 1.6% to 5.3% in ofCNVM.
~ DIAGNOSIS
endemic areas based on epidemiologic data from - Fundus photographs
the 1960s and 1970s. - Fluorescein angiogram
In endemic regions. up to 70% of the population - Ocular coherence tomography
HISTORY - lndocyanine green angiography
demonstrate exposure to H. capsulatum and react Patients are typically young or middle-aged and may
positively to histoplasmin antigen skin testing (1). be asymptomatic. Follow-up i spec:ial considerations
RISK FACTORS Patients should be questioned about time spent in Patients with POHS should be followed at least yearly
Exposure to H. capsulatum is the major risk factor endemic areas. for early detection of CNVM.
for developing POHS. Pathological Findings
PHYSICAL EXAM One study detected products of H. capsulatum DNA
- 4.4% of those who are skin test positive to
POHS may be unilateral or bilateral. via polymerase chain reaction in 1eye with POHS (3).
H. capsulatum have clinical findings consistent
with POHS (1 ). The classic findings for POHS are as follows:
- Multiple, focal, discrete, atrophic choroidal scars DIFFERENTIAL DIAGNOSIS
Genetics in the macula or periphery (termed Multifocal choroiditis with panuveitis
The HLA subtypes DRw2 and B7 have been associated punched-out lesions or histo spots") can - Clinically similar to POHS but can be differentiated
with POHS. This suggests that POHS is possibly an result from previous choroiditis or CNVM. by the presence of a cellular reaction.
immune-mediated response to an infectious trigger o linear atrophic lesions may also be seen ("histo Pathologic myopia
(1). streaks"). Age-related macular degeneration
- Peripapillary atrophy (chorioretinal atrophy Angioid streaks
adjacent to the optic nerve) Idiopathic CNVM
- No cellular reaction in tile anterior chamber or Diller fungal choroiditis
vitreous cavity
Bacterial choroiditis
Viral choroiditis
562
PRESUMED OCUlAR HISTOPlASMOSIS SYNDROME
IN-PATIENT CONSIDERATIONS 3. Spencer WH, Chan CC, Shen OF, et al. Detection of
I
. TREATMENT Initial Stabilization Hlstofiasma C<!psu/atum DNA In lesions of dlronlc
In patients w1th disseminated histoplasmosis, a ocular histoplasmosis syndrome. Arch Ophrhalmol
MEDICATION complete medical evaIuation to detemnine organ 2003;121 :1551-1555.
Medication is not indicated for most cases of POHS. involvement should be performed. Intravenous 4. Postel mans L., Pasteels 8, Coquelet P, et al.
Patients with choroiditis may be treated with oral or antifungals should be initiated. Photodynamic the111py for subfoveal dassic
perloaJiar steroid. choroidal neovascularization related to punctate
Admission Criteria
Dlssem lnated hlstoplasmosls may occur In Inner choroldopathy (PIC) or presumed ocular
ADDITlONAL TREATMENT histoplasmosis-like syndrome (POHS-Iike). Orul
Issues for Refem.l immunocompromised patients. These patients require
hospitalization and aggressive management. lmmunollnflamm 2005;13:331-333.
Patients with any suspicion of CNVM should be 5. Schadlu R. BIinder KJ, Shah GK. et aI. lntravitreal
evaluated by a retinal spedallst bevacizumab for choroidal neovascularization in
- Immunorompromised patients may develop ocular histoplasmosis. Am J Ophthalmol
disseminated histoplasmosis. Sudl cases should
$ ONGOING CARE
2008;145:875-878.
be referred to an infectious disease spedalist. FOLLOW-UP RECOMMENDATIONS 6. Almorry A, Thomas MA, Atebara NH, et al.
Additional Tll818ples Patients need regularly scheduled follow-up visits at Long-term follow-up of surgical removal of
least yearly. In patients with evidence of previous or extensive peripapillary choroidal neovascularization
lhemnal laser has been shown to be benefldalln active CNVM, more frequent follow-up Is Indicated.
CNVM Sel:ondary to POHS (I )[A]. in presumed ocular histoplasmosis syndrome.
Patient Monitoring Ophthalmology 2008;11 S:540-S45.
- However, themnal laser to subfovea I or juxtafoveal Patients should monitor their central vision daily with 7. Hawkins BS, Bressler NM, Bressler SB, e1 al.
lesions can cause a central scotoma, so alternative an Amsler grid. Any changes should be evaluated Submacular Surgery Trials Research Group. Surgical
therapies should be explored. immediately. removal versus observation for subfoveal choroidal
Photodynamic therapy can be benefldaI for neovascularization. either associated with the
PATIENT EDUCATION
treatment of CNVM due to POHS. Patients typically Patients should be edutated on the need for regular ocular histoplasmosis syndrome or idiopathic I.
require only 1 or 2 treatments and have good 2-year follow-up and daily Amsler grid monitoring. Ophthalmic ftndlngs from a randomized dlnlcal
maintenance of treatment benefit (4)(A[. tria I: Submacular Surgery Trial Group HTrial: SST
lntravitreal bevacizumab has resulted in an incrNse PROGNOSIS Repon No.9. Arch Ophthalmo/ 2004;122(11):
in vision in 71 % of eyes treated fur CNVM due to VIsual prognosis can be good. as long as glauroma 1597-1611.
POHS. lntravitreal bevadzumab should be and any posterior segment complications are
considered especially in patients with subfovea I controlled.
CNVM in whom other treatment modalities may COMPUCATlONS . CODES
lead to central scotoma (S)[A]. Permanent visual loss can occur secondary to CNVM.
ICD9
SURGERY/OTHER PROCEDURES 379.8 Other specified disorders of eye and adnexa
In patients with extension of peripapillary CNVM REFERENCES
into the subfoveal space. pars plana vitrectomy with 1. Prasad AG, Van Gelder RN. Presumed OOJiar
removal of the CNVM may be beneficial. In a CLINICAL PEARLS
histoplasmosis syndrome. Cu" Opin Oph#lalmol
retrospective review, 15117 patients had 2005;16:364-36{1, POHS Is an ocular syndrome based on clln leal
stabilization or improvement of their vision after a 2. Ongkosuwtto JV, Konbeek. L.M, VanDer Lellj A. findings. Linkage to H. CDpsuiGtum is controversial.
year or more (6)[8]. et al. Aetiological study of the presumed ocular CNVM is the primary cause of visual loss in POH S.
The submacular surgery trial found that there was a histoplasmosis syndroml! in the Netherlands. Br J Except early in inoculation, patients will not have
benefrt to surgery in patients with vision worse than Ophtha/mol 1999;83:53~39. noticeable intraocular inflammation.
2011 00, but this was before anti-VEGF therapy.
There was a 58% recurrence rate.
563
PRIMARY OPTIC NERVE SHEATH MENINGIOMA (ONSM]
Matthew D. Kay
Biopsy rarely indicated given characteristic
radiographic features. but can be performed if MRI
DESCRIPTION HISTORY and clinical features are unclear.
Tumor of perioptic meningeal sheath producing a Painless progressive generally unilateral visual loss -If biopsy is performed, it should be limited to the
compressive optic neuropathy transient visual obscurations lasting seconds. proptosis dural sheath and subdural tissue and should not
(59%), and/or diplopia (47%) involve the ON per se.
EPIDEMIOLOGY
Incidence PHYSICAL EXAM Pathological Findings
Represent approximately 1-2% of all meningiomas Demonstrates features of an optic neuropathy: Two histological patterns: meningothelial pattern
decreased visual acuity; decreased color vision; with polygonal cells separated by vascular
Represent approximately 1. 5% of all orbital tumors
nerve fiber bundle-type visual field defect; afferent trabeculae; transitional pattern with spindle- or
94% unilateral pupillary defect if unilateral or asymmetric ON oval-shaped cells arranged in concentric whorl
Childhood through 8th decade with mean age of involvement formation
41 years ON may appear normal, pale, or edematous based -Psammoma bodies are more common in
- Female:Male 3:2 upon the location of tumor with anterior transitional pattern.
-Site of origin: 92% intraorbital optic nerve (ON); involvement producing ON edema while posterior
8% optic canal orbital and canalicular lesions generally demonstrate DIFFERENTIAL DIAGNOSIS
ON glioma
RISK FACTORS either a normal ON appearance or ON pallor.
Neurofibromatosis type 2 (NF2) is present in 9% of Optociliary shunt vessels in 30% of patients Optic perineuritis
optic nerve sheath meningioma (ONSM) patients. Metastatic infiltration
DIAGNOSTIC TESTS & INTERPRETATION Sarcoidosis
Genetics Imaging
Disorder localized to chromosome 22 if related to lymphoma
Initial approach
NF2
PATHOPHYSIOLOGY
Chronic compression of the ON by enveloping tumor
MRI orbits with and without contrast including
T1-weighted postcontrast images with fat
suppression: coronal images demonstrate the ON to
fl TREATMENT
or ischemic change secondary to compromised blood be a hypodense area surrounded by the tumor that ADDITIONAL TREATMENT
supply related to compression of the pial vasculature. appears as an enhancing thin, fusiform, or globular General Measures
central retinal vein, or central retinal artery ring of tissue. Conformal 3-dimensional external beam radiation
MRI demonstrates characteristic features generally therapy should be performed in patients with evidence
ETIOLOGY sufficient to establish diagnosis. of progressive visual loss on serial clinical exams and
Tumor arising from the meningothelial cap cells" of visual field studies or if significant visual loss at
Preconb'ast CT images may demonstrate
the arachnoid villi along the intraorbital and presentation (1 ).
calcifications in the tumor in some cases, whereas
canalicular portions of the ON
postcontrast CT may demonstrate "tram-track" sign. Issues for Refe"al
COMMONLY ASSOCIATED CONDITIONS Follow-up It special considerations Radiation oncology consultation for radiation therapy
NF2(9%) Serial MRI orbits q6-18 months unless change in
visual function prompts earlier reevaluation.
Complete resection of ON and tumor up to chiasm via
craniotomy is reserved for patients with severe visual
loss and intracranial extension (rarely indicated).
564
PRIMARY OPTIC NERVE SHEATH MENINGIOMA (ONSM)
REFERENCES
I
1. Turbin RE. Thompson CR. t::ennerdell JS. et al. A
FOU.OW-UP RECOMMENDA110NS long-term visual outcome comparison In patients ICD9
Call for visual changes Ylith optic nerve sheath menlngloma managed with 225. 1 Benign neoplasm of cranial nerves
l'atlant Monitoring obseMtion, surgery, radiotherapy, or surgery and 225.2 benign neoplasm of meninges
Serial clinical exams with formal perimetry should be radiotherapy. Ophthalmology 2002;109:89D-!l00.
377.49 Other disorders of optic nerve
performed q3-6 months Initially If being obsemd 2. And news rJW, Faroozan R. Yang BP, et al.
Ylithout radiation therapy unless subjective visual Fractionated stereotactic radiotherapy for the
changes prompt earlier reevaluation, with treatment of optic nerve sheath meningiomas: CLINICAL PEARLS
decreasing frequency thereaft!r based upon clinical Preliminary observations of 33 optic nerves in 30
course. patients with historical comparison to observation Triad of progressive visual loss, optic atrophy, and
Serial MRI or orbit CT scans should be obtained with or without prior surgery. Neurosurgery 2002; optxx:iliary shunt vessels. albeit not pathognomonic,
q6-18 months unless change In visual function St:B!IG-904. is highly suggestive of an ONSM.
promptS earlier reevaluation; it may be more
frequent when initially diagnosed. ADDITIONAL READING
PA11ENT EDUCATION
Inform of the benign nature of tumor with generally Codcerham KP, Kennerdell JS, Maroon JC, et al.
favorable prognosis for stabilization or lmprovement of Tumors of the meninges and related tissues:
visual function with radiation therapy if administered. Meningiomas and sarcomas. In: Miller NR. Newman
NJ. eds.. WaiR! and Hoyt's CliniCill Neuro-
PROGNOSIS ophthalmology. 6th Ed. 2005:1 502-1 507.
faYllt"able prognosis for stabilization or improvement o Dutton Jl Optic nerve sheath meningiomas. Surv
of visual function (94%) with radiation therapy Oph thaimol 1992; 37:t 67-t 83.
COMPLICATIONS o Miller NR. New conceptS in the diagnosis and
Plrtential for radiation optic neuropathy or radiation rna nagernent of optic nerve sheath meningioma.
retinopathy if treated with radiation therapy (rare J Neuro-ophthal 20D6;26(3):20D-208.
with above protocoO
Blindness if ONSM remains untreated or if attempt
surglcaI excision
565
PROUFERATIVE DIABOIC RmNOPATHY
Brett J. Rosenblatt
Imaging
Fluorescein angiography identifies areas of
nonperfusion and neovascularization.
DESCRIPTION HISTORY Optical coherence tomography can assess macular
Proliferative diabetic retinopathy (PDR) is Determine onset of diabetes, duration and degree of edema.
characterized by the growth of fibrovascular tissue due glycemic control
Ultrasound if vitreous hemorrhage
to chronic, poorly controlled diabetes. PDR includes History of hypertension
preretinal neovascularization, vitreous hemorrhage, Previous laser treatment DIFFERENTIAL DIAGNOSIS
traction retinal detachment, and secondary Pregnancy status Siclde cell retinopaltly
rhegmatogenous retinal detachment. Symptoms: Ocular ischemia (carotid stenosis)
-Acute vision loss preceded by extensive floaters Radiation retinopathy
EPIDEMIOLOGY
suggests vitreous hemorrhage or retinal Retinal vein occlusion
Incidence
About 50% of patients with PDR will progress to legal detachment. Hypertensive retinopathy
blindness wiltlout treatment (1 )[A]. - Pain and redness of the eye may be due to Coats disease
neovascular glaucoma. Occlusive vasculitis
Prevalence -Gradual loss of vision with macular ischemia, Talc retinopathy
Overall, 5% of patients with diabetes have PDR.
rJ
edema, or tractional retinal detachment
Approximately 29% of patients who have had type 1
diabetes for greater than 15 years have PDR, PHYSICAL EXAM
Anterior segment exam: iris or angle TREATMENT
compared with 16% of patients with type 2 diabetes
for a similar duration. neovascularization, hyphema, posterior synechiae
MEDICATION
Elevated intraocular pressure Consider antivascular endothelial growth factor
RISK FACTORS Posterior exam: vitreous hemorrhage,
Longer duration of diabetes medications (bevacizumab, ranibizumab) for control
neovascularization of the disc (fibrous proliferation of neovascularization (2)[C].
Poor glycemic control typically arising from optic disc and extending along
Hypertension Topical glaucoma drops or oral acetazolamide to
major retinal vessels), and neovascularization control eye pressure
Pregnancy elsewhere, both grow from the retinal surface into
the vitreous and can lead to vitreous hemorrhage ADDITIONAL TREATMENT
GENERAL PREVENTION
Optimizing blood pressure and blood glucose levels and/or tractional retinal detachments. General Measures
l..clser Photocoagul111tion
Routine eye exams and timely laser treatment DIAGNOSTIC TESTS & INTERPRETATION
Pan-retinal photocoagulation (PRP) if high-risk
PATHOPHYSIOLOGY Lab characteristics are present:
Accumulated capillary damage including endothelial HbA1c, CBC, blood pressure
Consider Hgb electrophoresis Neovascularization associated with vitreous or
proliferation, loss of pericytes, and capillary closure
Carotid ultrasound preretinal hemorrhage or disc neovascularization
leading to retinal ischemia
larger than one-third disc area are high-risk
Local vascular and fibrovascular proliferation Pregnancy test
characteristics and these patients should have PRP
mediated by growth factors (e.g., vascular (3)[A].
endothelial growth factor)
Diabetic nephropathy and neuropathy
Cardiovascular disease
Macular edema and ischemia
566
PROLIFERATIVE DIABETIC REnNDPATliY
I
Consider llitrectomy for nonclearing vitreous Improved prognosis with early detection and . CODES
hemorrhage (>3 monlt1s duration), and tractional or treatment
rhegmatogenous ret! nal detachment or dense PRP reduces risk of severe vision loss by SO%. ICD9
premacular hemorThage. Macular detachments or sl!lll!re macular ischemia 250.50 Diabetes mellitus with ophthalmic
leads to sl!lll!re vision loss. manifestations, type II or unspedfled type, nat
stated as uncontrolled
$ ONGOING CARE COMPUtATIONS
362.02 Proliferative diabetic retinopathy
Retinal detachment, retinal Ischemia, neovascular
FOU.OW-UP RECOM MENDA110N5 glaucoma
Patients require very close monitoring untillt1e disease
is brought under control. CLINICAL PEARLS
REFERENCES
PA11ENT MONITORING Prompt PRP can prl!lll!nt blindness.
Every 3 months until the disease is sli!ble 1. Diabetic Retinopathy Study Research Group. Keeping the head elevated and limiting activity may
PA11ENT EDUCATION Photocoagulaticn treatment of proIiterative diabetic allow vitreous hemorrhage to clear faster.
Glycemic control. Exerdse, weight management, blood retinopathy. Ophthalmology 1978;85:82-106. [AI
pressure control, and close monitoring by intemisV 2. Avery RL. Pearlman J, Pieramici OJ, et aI.
endocrl nologlst lntravitreal bevacizumab (A.vastin) in the treatment
of proliferative diabetic retinopathy.
Ophthalmology 2006;10:1695-1705. [C(
3. Early Treatment Diabetic Study Group. Early
Photocoagulaticn for diabetic retinopathy report 9.
Ophthalmology 1991;98:766-785. [A]
567
PSEUDOEXFOLIAnON SYNDROME
George L. Spaeth
~ BASICS
GENERAL PREVENTION Moth-eaten transillumination defects near the
No known modes of prevention pupillary margin
PATHOPHYSIOLOGY Iridodonesis
DESCRIPTION Loss of pupillary ruff
A systemic disorder characterized by the deposition Several mechanisms of pathogenesis have been
proposed: Poor mydriasis
of a fibrillar material on the lens, ciliary epithelium,
- Elastic microfibril hypothesis: pseudoexfoliation Increased pigmentation of the trabecular meshwork.
zonules, iris, and corneal endothelium, which may
be associated with the development of open- or material accumulates due to excessive synthesis of Sampaolesi's line (undulating line of pigment
closed-angle glaucoma elastin fibrils. anterior to Schwalbe's line)
- Pseudoexfoliation material may be composed of Zonular laxity may lead to a dosed angle and
In the U.S., approximately 40% of patients with
basement membrane proteoglycans and may shallow anterior chamber depth.
pseudoexfoliation syndrome (PXS) develop
accumulate due to abnormal metabolism of Glaucomatous optic cupping may be present
pseudoexfoliation glaucoma (PXG).
glycosaminoglycans in the iris. Elevated lOP
Differentiated from true exfoliation (capsular - Overexpression of transforming growth factor Jl 1
delamination seen in individuals exposed to infrared Mild anterior chamber flare
and an imbalance between matrix
radiation) metalloproteinases and tissue inhibitors of matrix On fluorescein angiography, iris vessels often lealc.
EPIDEMIOLOGY metalloproteinases probably contribute to the DIAGNOSTIC TESTS & INTERPRETATION
lnddence pathogenesis. Lab
Varies depending on country, ethnicity, and age Glaucoma may be the result of accumulation of the
Consider checlcing plasma homocysteine levels
In the U.S., the incidence of PXS has been estimated fibrillar material in the juxtacanalicular tissue.
(hyperhomocysteinemia has been detected in 27.1%
to be 25.9 per 100,000, but varies by age (1 ){C]: Accumulation of the pseudoexfoliation material in of patients with PXG) (3)[8].
- 40-49 years old: 2.8 per 100,000 Schlemm's canal may lead to narrowing or collapse
- ~80 years old: 205.7 per 100,000 of this structure, also contributing to elevated Imaging
intraocular pressure (lOP). Initial approach
In the U.S., the incidence of PXG is 9.9 per 100,000,
Optic nerve photos
but also varies by age (1)[C]: ETIOLOGY
- 40-49 years old: 0.6 per 100,000 Optic nerve imaging (confocal scanning laser
The exact etiology has not been elucidated. ophthalmoscopy, scanning laser polarimetry, or
- ~80 years old: 114.3 per 100,000 See Pathophysiology section for current hypotheses. optical coherence tomography)
Prevalence COMMONLY ASSOCIATED CONDITIONS Fallow-up It special considerations
Varies depending on location and ethnicity
Cataract Repeat optic disc photos or imaging every 1-2 years.
In the Framingham Eye Study, the rate of PXS was Open or closed angle glaucoma
0.6% for ages 52~4 years and 5.0% for ages Diagnostic Procedures/Other
Hyperhomocysteinemia Visual fields should be obtained every 1-2 years (or
75-85 years.
Cardiovascular disease more frequently if indicated by rate of glaucomatous
In some Scandinavian countries, PXG may account
for more than 50% of open-angle glaucoma. Sensorineural hearing loss progression).
A-scan or IOLMaster axial length measurements and
~ DIAGNOSIS
RISK FACTORS corneal curvature measurements for those
Age (more common >60 years) undergoing cataract surgery.
Female Pachymetry to assess central co meal thiclcness
HISTORY
Scandinavian descent Generally asymptomatic Pathological Findings
Family history Eosinophilic pseudoexfoliation material is found on
PHYSICAL EXAM
Geneffa Usually bilateral but frequently asymmetric the anterior lens capsule, zonules, anterior and
Strong familial association posterior surfaces of the iris, ciliary body epithelium,
Flakes of pseudoexfoliation material and pigment on
Multiple modes of inheritance (including autosomal corneal endothelium, and incorporated into the
the corneal endothelium
dominant, autosomal recessive, X-linked, and trabecular meshwork.
Pseudoexfoliation material is seen on the anterior
maternal inheritance patterns) have been described. Elastin and tropoelastin are present by
lens capsule in a characteristic pattern: central
Some studies suggest that polymorphisms in the immunoelectron microscopy.
plaque of pseudoexfoliation material surrounded by
lysyl oxidase-like 1 (LOL 1) gene (which is involved in a dear zone surrounded by a peripheral zone of Pseudoexfoliation material has been found in other
the synthesis and maintenance of elastic fibers) is pseudoexfoliation material. ocular (conjunctiva, posterior ciliary vessels).
associated with pseudoexfoliation (2)[8]. Nuclear opacities periocular (eyelid skin, extraocular muscles, orbital
Polymorph isms in the clusterin gene may be a risk Pseudoexfoliation material deposits on and weakens septa) and extraocular (heart, lungs, liver, kidney,
factor for pseudoexfoliation. the lens zonules, leading to phacodonesis and lens gallbladder, and cerebral meninges) sites (4)[B].
Role of genetic testing is not clear. subluxation.
Pseudoexfoliation flakes on the pupillary margin.
568
PSEUDDEXFOLIATION SYNDROME
True exfoliation (see Desa1ptlon)

Primary amyloidosis
Pigmenta~ dispersion syndrome/glaucoma
Uveitic glaucoma
Tr.~becular aspiration has been describEd but has not
been well studied.
Trabeculectomy with mitomycin-(
Tube shunt
Cyclophotocoagulation may be considered when
4. Strl!l!ll!n BW, U ZV, Wallace RN, et al.
Pseudoexfollatlon flb~llopathy In visceral organs of
a patient with pseudoexfollatlon syndrome. Ardl
Ophthalmo/ 1992; 110: 1757-1762.
5. Shingleton BJ, Crandall A5, Ahmed II.
I
,
Chronic angle<losure glaucoma other medical and surgicaI treatments fai I. Pseudoexfoliation and the cataract surgeon:
rJ
preoperative, intraoperative, and postoperative
Issues related to lntraocular pressure, cataract, and
TREATMENT $ ONGOING CARE intraocular lenses. J Cataract Refract Surg
201 0;36:702.
FlmLine Patients with PXS should be seen for a full exam
Observation may be appropriall!. if there are no annually to monitor for signs of glaucoma and/or ADDITlONAL READING
lens subluxation.
signs of ocular hypertension or glaucoma. Ritch R, Schlot:zer-Sduehardt U. Exfoliation
Patients with PXG should be seen every
When oc:ula r hypertension Is present, close syndrome. Surv Ophtha/2001;45:265-31 5.
3-1 2 months depending on disease severity.
observation Is warramed. 1-s the course of PXS from Shlotzer-Schrehardt U, Naumann GO. Ocular and
normaI lOP to ocular hypertension to glaucoma can DIET systemic p5E'Jdoexfolla11on syndrome. Am J
be rapid, initiation of lOP-lowering treatment may Consider folate and vhamln Bu supplementation If Ophfha/mol 2006;141 :921-937.
be indicall!d. hypemomocysll!inemia is present
When signs of glaucoma are present, treatment PROGNOSIS
(medications, lase~ or surge~) should be lnltlall!d.
Medications include the following:
Variable . CODES
-Topical prostaglandin analogues (e.g., travoprost, Grealer dlurnaI lOP variation In PXG compared with
latanoprost. bimatoprost) POAG ICD9
-Topical beta-blockers (e.g., timolol, betaxolol) PXG is often more difficult to treat than POAG. 365.52 Pseudoexfollatlon glaucoma
-Topical alpha2-agonists (e.g., brimonidine) When PXG progresses. it often progresses more 366. 11 Pseudoexfoliation of the lens capsule
-Topical carbonic anhydiGSe Inhibitors {e.g., rapidly than POAG.
dorzolamide, brinzolam ide) COMPUCATlONS
- Fixed combination meds (e.g., Lens subluxation CLINICAL PEARLS
dorzolamideltimolol, timolollbrimonidine) GlaucomaiDus visuaI field loss PXS, which is more common after the age of
SecondUne CorneaI decompensation 60 years, is dJar.~cterized by deposition of fibrillar
Oral carbonic anhydrase inhibitors (e..g., material on the anterior lens capsule,zonules, iris,
acetazolamide, methazolamIde) and corneal endothellu m. These changes may be
REFERENCES minimal. Iris and angle changes are important in
making the diagnosis of pseudoexfol iation.
Issues for Rfdeml 1. Karger RA. Jeng 5M, Johnson DH, et al. Eslimall!d
incidence of pseudoexfoliation syndrome and PXG may develop in up to 40% of individuals with
Consider referra I to an experienced anterior
segment surgeon for cataract extraction If zonular pseudoexfolialion glaucoma in Olmsted County, PXS.
laxity is present. Minnesota. J Glaucoma 2003;12:193-197. Cataract extraction can be com pllcated by poor
2. Challa P. Genetics of pseudoexfoliation syndrome. mydriasis and loose zonules..
Consider referra I to a glaucoma specialist when
indicall!d. CUlT Opin OfiJtha/mo/ 2009;20:88--91. lOP control in PXG can be more challenging than in
3. Clement Cl, Goldberg I, Healey PR. et aI. Plasma POAG.
Laser trabeculoplasty can be highly effective. but the homocysteine, MTHFRgene mutation, and open
angle glaucoma. J Glaucoma 2009;18:73--78.
duration of effectiveness may be short compared
with primary open angle glaucoma {POAG).
Cataract extraction when lenlirular opacities are
visually significant (be prepared ID use iris expansion
techniques due to poor mydriasis and consider use
of a capsular tension ~ng; extracapsular cataract
extJaction is indicated in some cases). NOTE:
Pseudoexfoliation does not resolv! following
catalllct extraction (5)[8].
569
PSEUDOPAPILLEDEMA
Saunders L. Hupp

Optic nerve buried or superficial drusen
Lab
Down's syndrome Usually not indicated
DESCRIPTION Alagille syndrome (arteriohepatic dysplasia) If Leber's hereditary optic neuropathy suspected,
Optic disc elevation unrelated to increased intracranial Kenny syndrome (hypocalcemic dwarfism) arrange genetic analysis.
pressure (ICP)
Linear nevus sebaceous syndrome Imaging
EPIDEMIOLOGY Leber's hereditary optic neuropathy Stereo disc photos
Incidence
0.3-2.4% (1)[A]
~ DIAGNOSIS Visual field
Prevalence -Peripheral defects develop in 21% of patients
HISTORY with buried drusen and 71% with visible drusen
3.4-4.9/1000 clinically, up to 20.4/1000 in autopsy Usually asymptomatic with no visual complaints (4)[A].
studies (2)[A], (3)[A] - Rarely, brief transient visual obscurations
75% bilateral (1 )[A] -Visual field or central acuity loss if associated with o Nerve fiber bundle defects
complications (see below) o Concentric constriction
- males = females o Enlargement of blind spot
- Less prevalent in African Americans - Presence of hypertension, neurologic symptoms
(especially headache), and fever Bscan ultrasonography
RISK FACTORS - Buried drusen exhibit high reflectivity
Hyperopes and myopes equally affected PHYSICAL EXAM CT
Visual acuity - Calcifications in disc
Genetics
Color vision Fluorescein angiography
Drusen are transmitted as autosomal dominant.
- Rarely visible in an infant, drusen enlarge and Pupil exam - Drusen autofluorescence
calcify with age. -Afferent defect often accompanies complications -True papilledema exhibits late dye leakage and
(see below). capillary dilation
PATHOPHYSIOLOGY - Not diagnostic
Elevation and crowding of the optic nerve axons not Measure blood pressure Optical coherence tomography (1)[A], (2)[A]
associated with IC P. Dilated fundus exam Pathological findings
- drusen, collections of a mucoprotein matrix, most - Disc vessels usually clearly visible - Usually none, invasive procedures not indicated
often concentrated in the nasal portion of the disc o Rarely may be obscured by gliosis or myelin
- remnants of hyaloid system remain with gliosis DIFFERENTIAL DIAGNOSIS
o No hyperemia or dilated capillaries
and/or traction on the axons Optic neuritis
- Elevation greatest in center of disc from which
- crowding due to a small cup central vessels emerge and is confined only to disc Posterior scleritis
-tilted disc due to angle of optic nerve entry into -Absence of exudates Toxoplasmosis
eye -Absence of venous congestion Idiopathic intracranial hypertension
- retained myelin -Anomalously elevated disc has no physiologic cup Ischemic optic neuropathy
- metastatic or primary tumors of ttle optic nerve and is usually small. -Anterior
-scleral infiltration - Presence of superficial drusen -Giant cell arteritis
EnOLOGY - Disc may be tilted. Compressive optic neuropathy
- Spontaneous venous pulsations may or may not Optic nerve infiltrates
Drusen are the result of extracellular deposition of
be present. Papilledema
axoplasmic material either from mechanical
- Congenitally anomalous vessels may be present. Sarcoidosis
interruption of axonal transport or from axonal
degeneration (2)[A]. Family members may have anomalous discs and Optic nerve tumors
drusen. Papillitis
Leber's hereditary optic neuropathy
570
PSEUDDPAPILLEDEMA
. TREATMENT
MEDICATION
ONGOING CARE
2. Yi IC. Mujat M, Sun W, l!t al. Imaging of optic neM!
head drusen: Improvements wtth spectllll domaIn
optical coherence tDmography. J G/auaJt7Ja
2009;18(5):373-378.
I
,
Drusen alonl! need no medical therapy. Annual exam unless complications (see below) 3. Grippo TM, Shihadeh WA. Sdlargus M, et al. Optic
Patient MonlfDrlng nerve head drusen and visual field loss in
Physical exam (see above) normotensive and hypertensive eyes. J Glaucoma
General Measures 2008;17(2):1OQ--1 04.
Patient education (see below) VIsual field exam
4. Katz BJ, PDme~<~nz HD. Visual field defects and
Issues for Referral PATIENT EDUCATION retinal nerve fiber layer defects in eyes with buried
o Patient and family should be able to relate history of
ChoroidaI neovascular membrane optic nerve drusen Am J Ofirlha/mo/ 2006;141 (2):
- May requl re laser photocoagulation or use of pseudopapilledema to future caregivers. 248-253.
antivasogenic drugs - Provide disc photo
Nonarteric ischemic optic neuropathy PROGNOSIS
- Optimize cardiovascular status Usually very good ADDITIONAL READING
-Treat even borderline ocular hypertension
COMPUCATlONS The Neuro-ophlhalmology Virtual Education Library
IN-PATIENT CONSIDERATIONS Peripapillary or disc hemorrhage http://llblllry.med.utah.eduiNOVEU
lniffal Stabiliz#on - Most patients retain normal or near-normaI vision. - Search both pseudopapllleclema and optic disc
Evaluate for the presence al severe hypertension Perlphellll visual lleld loss In 71-75% drusen
and acute neurologic signs and symptoms. o Loss of centiCII vision
Measure visual acuity. - Acute and nonprogressive
Rule out true papilledema. - Usually preceded by progressive peripheral field . CODES
loss
Admission CtiWrM ICD9
Severe hypertension - A dlagnosls of exclusion
o 377.21 Optic nerve drusen
o Nonane~tlc lsd1em lc optic neuropathy
Acute visuaI loss 377.24 Pseudopapilledema
o Retinal artery or vein ocdusion
-Giant cell arteritis in the elderly
o Elevated sedimentation rate and or C-reactive Transient visual loss
protein - Rarely may be a harbinger of retinal vascular
occlusion CLINICAL PEARLS
Papilledema
o Peripapillary subretlnal neovascula11zadon o Examine family members
Dlschal'fle Criteria
Vrtal signs stable
Acute visuaI loss static or transient REFERENCES
Absence of papilledema
OphthaImology follow-up 1. Johnson LN, Diehl Ml, Hamm CW, et al.
Differentiating optic disc edema from optic nerve
head drusen on opticaI coherence tomography.
Arch Ophlha/mo/ 2009;127(1 ):45--49.
571
PTERYGIUM
Peter R. Laibson
~ BASICS Genetics
May be a factor but not yet delineated
GENERAL PREVENTION Biopsy not indicated
DESCRIPTION
A pterygium is a benign, limbal, epithelial, Use of sun block, uv protective glasses, and hat when DIFFERENTIAL DIAGNOSIS
wing-shaped, degenerative growth, mostly nasally, exposed to excessive and reflective sun Pseudopterygium---<onjunctival adherence to the
that migrates onto the cornea from the conjunctiva PATHOPHYSIOLOGY cornea due to inflammation or trauma
and may cause visual distortion or loss of vision if it Actinic degeneration of sensitive Iimbal stem cells Dermoid of the limbus
progresses into the visual axis. It is treated by surgical probably in genetically predisposed individuals. Squamous cell carcinoma (rare)
removal when vision is threatened or if it is a cosmetic
problem. Recurrence of the pterygium can be an issue COMMONLY ASSOCIATED CONDITIONS
after surgical removal {1 ). Pingueculum . TREATMENT
None beyond the corneal surface
EPIDEMIOLOGY MEDICATION
~ DIAGNOSIS
More prevalent in outdoor workers exposed to None for prevention or treatment
highly reflective surfaces such as water and sand Astringents or vasoconstrictors to reduce redness,
Encountered in latitudes less than 30, due to but limit use
ultraviolet {UV) light exposure HISTORY
Redness nasally usually, but occasionally temporally SURGERY/OTHER PROCEDURES
Chemical exposure, excessive dust, wind, and
Distorted or reduced vision as pterygium grows Surgical removal of pterygium when it threatens
ethnicity have been linked to pterygium formation
toward the visual axis vision or becomes a cosmetic problem
and growth.
Slight irritation as pterygium advances onto the Removal of pterygium from cornea and conjunctiva
Genetic considerations and the presence of human
cornea with dissection of subconjunctival fibrovascular
papillomavirus may be linked in some cases to
tissue
pterygium formation (2). PHYSICAL EXAM
Placement of conjunctival autograft (CAG) from the
Pediatric Considerations Early, small whitish elevated nodule at 9 o'clock
12 o'clock position of same eye
Usually not seen in children and teenagers, due limbus
probably to cumulative exposure to UV light Later, wing-like growth of fibrovascular tissue
extends onto the cornea from nasal limbus mostly.
RISK FACTORS May reach and cross visual axis in worst cases
Presence of pinguecula Hemorrhage from leaking capillaries at pterygium
Exposure to UV light commonly in those living head indicates activity
within 30 of the equator Iron line (Stocker's line) at pterygium head indicates
Wind inactivity
Dust
572
PTERYGIUM
Mitornytin Capplication before placement of cag 3. Kucula!rdonmez C, Alawa YA. Altinors 00.
I
wt1en approp~ate Comparison of conjunctival autograft with amniotic . CODES
Suture cag Into position or use tissue adhesives. If membrane transplantation for pterygium surgery.
conjunctiva must be spared, use amniotic membrane Cornea 2007;26:407-413. ICD9
tissue as transplant (3). 4. Young AL. Tam PMK. Leung GYS, et al. Prospective 224.3 Benign neoplasm of conjunctiva
Mitornytin Cshould be used judidously (4). study on the safety and efficacy of combined 372.40 Pteryglu m, unspecified
conjunctival rotational autograft with intraoperative
0.02'!1. mitomycin CIn p~mary pterygium excision.
$ ONGOING CARE Cornea 2009;28:166-169. CLINICAL PEARLS
FOU.OW-UP RECOM MENDA110NS
S. Kandavel R. Kang JJ, Memarzadeh F, et al.
Comparison of pterygium rewrrence rates in Most pterygium can be observed at first. If there is
Topical steroids must be used postoperatively fur at progressive growth, they should be surgically
Hispanic and 'Mlite patients after primary excision
least 6 months in tapering dosage to prevent removed before coming dose to the visual axis.
II!OJ rrent pterygium (S).
and conjunctival autograft COmei 201 0; 29:
141-145.
REFERENCES
1. Chang Rl, Ching ST. Corneal and conju netivai
degenerations. In: Cornea. Krachmer JH, Mannis
MJ, Holland EJ, eds. Philadelphia: Elsevier Mosby,
2005:t OOt-t 002.
2. Hsiao C, Lee 8, Ngan K. e1 al. Presence of human
papi llomavirus pterygium in Taiwan. Comea
2010;29:t23-127.
573
PTOSIS
Katherine A. Lane

CN Ill palsy
- Congenital, compressive, vasculopathic, traumatic
Lab
Acetylcholine receptor antibody testing and/or
DESCRIPTION Horner's syndrome edrophonium chloride (Tensilon) testing under
Drooping of the upper eyelid Myasthenia gravis monitored conditions are recommended in cases of
- May be congenital or acquired Other: Marcus Gunn jaw winking syndrome, suspected myasthenia gravis.
- May cause blurred vision or loss of visual field ophthalmoplegic migraine, multiple sclerosis Imaging
EPIDEMIOLOGY Suspected orbital mass: orbital CT or MRl
Unknown
RISK FACTORS
~ DIAGNOSIS P?inful. Horn~r's syndrome: rule out carotid artery
d1ssect1on w1th emergent CT/CT angiography (CTA)
See associated conditions HISTORY or MRI/magnetic resonance angiography (MRA) of
Determine the onset and duration of ptosis. the head/neck.
Genetics CN Ill palsy (partial or pupil involving): rule out
Most commonly idiopathic History of surgery in either eye?
Symptoms of ocular irritation? intracranial aneurysm with emergent CT/CTA,
May be inherited as autosomal dominant trait MRIIMRA, or angiography.
Familial occurrences suggest that genetic or Orbital or eyelid trauma7
chromosomal defects are likely, although yet Variability with fatigue? Diagnostic Procedures/Other
unknown. Associated with headache or neck pain 1 Visual fields to determine functional impact
Associated diplopia? Clinical photographs
PATHOPHYSIOLOGY Ice test
Aponeurotic: levator stretching or dehiscence (1) History of autoimmune disease (lupus. Sjogren's
syndrome)? - Improvement of ptosis with ice suggests
Myogenic: primary or secondary levator and/or myasthenia gravis.
Muller's muscle abnormality PHYSICAL EXAM Cocaine and/or hydroxyamphetamine tests
Neurogenic: damage to nerves innervating the Visual acuity - In cases of suspected Homer's syndrome
levator and/or Muller's muscle External Single fiber electromyography (EMG)
Mechanical - Position of upper and lower eyelid margins -In cases of suspected myasthenia gravis
Traumatic: damage to eyelid retractors (primary, up and down gaze)
- Levator function Pathological Findings
ETIOLOGY - Presence and position of eyelid crease Congenital ptosis
Congenital: -Amount of dermatochalasis. position of eyebrows - Underdeveloped levator muscle, may be infiltrated
- Myogenic: levator dysgenesis - Preexisting eyelid scars by fatty tissue
- Blepharophimosis - Evert upper eyelid Aponeurotic ptosis
- Neurogenic: synkinetic, Horner's syndrome, cranial -Orbital exam: palpable masses or proptosis? -Thinning, lengthening, and/or disinsertion of the
nerve (CN) Ill palsy Pupils levator aponeurosis from the tarsal plate
Acquired: - Irregular, miosis or mydriasis Myogenic ptosis
-Aponeurotic: nonmal aging changes. repetitive Motility - Ragged red fibers in CPEO
trauma in patients who rub eyes, contact lens - Ductions and versions
wearers._ patients with previous intraocular surgery DIFFERENTIAL DIAGNOSIS
- Bell's phenomenon Contralateral upper lid retraction
- Myogemc: myasthenia gravis, chronic progressive - Strabismus or diplopia
external ophthalmoplegia (CPEO), myotonic Ipsilateral exophthalmos
Anterior segment Small globe: microphthalmos, phthisis bulbi
dystrophy, oculopharyngeal dystrophy
- Conjunctival inflammation, filtering blebs
-Neurogenic: CN Ill palsy, Horner's syndrome Dermatochalasis
-Tear film
- Mechanical Brow ptosis
- Keratopathy
-Traumatic: history of eyelid laceration with levator Eyelid edema
-Anterior segment inflammation
transection, contusion injury to the levator
- Reactive: due to ocular or orbital inflammation Retina
Pigmentary changes
574
PTOSIS
I
MEDICATION FOLLOW-UP RECOMMENDATIONS ICD9
Myasthenia gravis: treatment of primary disorder See issues for referral. 374.32 Myogenic ptosis
Yfilllmprove OCJ!ar symptoms Patient MonlfDrlng 374.33 Mechanical ptosis
- Pyrldost!gmlne, prednisone, Intravenous Congenital ptosis: see issues for referral. 743.61 Congen itaI ptosis of eyelid
immunoglobulin (MG), steroid-sparing agents
PROGNOSIS
ADDITIONAL TREATMENT Dependent ol etiology
General Measui'8S CLINICAL PEARLS
COMPUCATlONS
Observation After surgical repair: All cases of acute onset ptosis require a thorough
Management ol d1alazlon and eyelld and/or orbital - Orbital hemorrhage motility and pupiI exam to rule out assodated
neoplasms witl'l excision - Under-/overcorrectlons neurological cnnditions.
Treatment of OOJ!ar irritation in reactive ptosis - Eyelid asymmetiY Ptosis exam pearls:
Traumatic ptosis should be observed for -Infection - Aponeurotic
spontaneous improvement for at least 6 montl'ls. - Dry eye syndrome o Moderate ptosis, high eyelid (rease. good
Issues for Refem~l - Corneal exposure/lagophthalmos levator function (1 Q-15 mm), may worsen in
Congenital ptosis downgaze.
- Referral to pediatric ophtl'lalmologist for Myogenic
monitoring/management of possible amblyopia REFERENCE - Decreased levator function (> 10 mm), weak or
and/or strabismus 1. Frueh BR. The med1anistic classification of ptosis. absent eyelid aease
Neurogenlc ptosis Ophthalmology 1980;87:1 019-1021. - Congenital cases have demonstrated
- Referral to neuro-ophtl'lalmologiSl, neurologkt. lagophthalmos in downgaze.
and/or neurosurgeon Neurogenic:
ADDITIONAL READING - CN Ill palsy: complete ptosis,
exotropialhypotropia, andfor dilated pupil
THERAPIES Holds JB, Anderson RL. BlepharoptDSis, Ch. 12. In: -Horner's syndrome: subtle upper and lower eyelid
Taping and eyelid crutches attached to glasses Color atlas af ophthalmic surgery- Vol. 6. ptosis, miosis, regional anhidrosis; cnngenital
SURGERY/OTHER PROCEDURES Oculop/astic surgery. David T, Tse MD, eds. cases may have iris heterod1rom ia.
Extemallevator resection/advancement Phi ladeIphill, PA: J.B. Lippincott Co, 1992: 151-174. - Myasthenill gravis: variable ptosis, worsens with
InternaI levator resection Jeffrey A. Nerad. Evaluation and treatment of the fatigue; often associated with diplopia
Frontalis sling procedure: for patients with poor patient with ptosis, Ch. 7. In: Oaioplastk surgery: Med1anical:
The requisites in ophthalmology. Krammer JH, - Foreign body in superior fornix. eyelid edema,
levator function
Series ed. St. Louis, M0: Mosby, 2001 :1 57-I 92. inflammation, lesion/neoplasm, giant papillary
conjunctivitis, OCJiar irritation
Traumatic
-Evidence of previous trauma, deaeased levator
function, and/or eye! id retraction
575
PTOSIS-CONGENITAL
Barry N. Wasserman
Alex V. Levin
~ BASICS
~ DIAGNOSIS Consider genetic testing if blepharophimosis
syndrome suspected.
DESCRIPTION HISTORY Anti-acetylcholine receptor antibody titers in cases
Child born with drooping eyelid toward or into the Onset from birth of suspected myasthenia gravis.
visual axis May be symmetric or asymmetric,
May range from less than a millimeter to complete Imaging
May be unilateral or bilateral
closure. Initial approach
EPIDEMIOLOGY - Possible chin up position to view straight ahead. Usually none required.
Unreported. - Inquire about lagophthalmos when sleeping. Follow-up a special considerations
RISK FACTORS Consider neuroimaging in cases of suspected cranial
PHYSICAL EXAM nerve Ill palsy, double elevator palsy, Horner
Family history Visual acuity testing to reveal amblyopia secondary
Birth trauma syndrome, and tumor.
to obstruction of the visual axis or induced
Genetics anise-astigmatism Diagnostic Procedures/Other
Mostly unknown Child may have chin up position, particularly if Bscan ultrasound may be useful if lid mass suspected.
Reported genomic loci include 8q21.11~22.1 (1), ptosis is bilateral and in the visual axis. Pathological Findings
1p32-1 p34.1 (autosomal dominant), and - Evaluate ocular motility for possible cranial nerve Fibrous and adipose tissues replace normal muscle
Xq24-27.1 (X linked recessive) Ill palsy, or double elevator palsy. fibers in the muscle belly.
Associated with many genetic syndromes (e.g., -Absent upper lid skin crease if severe lack of normal muscle fibers with some changes to
Cornelia de lange, Turner syndrome, craniofacial - Evaluate pupils and lower lid position to rule out extracellular matrix
disorders) Horner syndrome and mydriasis of cranial Ill palsy. Amorphous extracellular material stained positively
One of the cardinal features of blepharaphimosis - Cycloplegic refraction to uncover induced for collagen type Ill and fibranectin (2).
syndrome (congenital ptosis, epicanthus inversus, astigmatism, myopia, and anisometropia
- Measure interpalpebral fissure height, margin DIFFERENTIAL DIAGNOSIS
horizontal shortening of palpebral fissures), Cranial nerve Ill palsy
autosomal dominant, FOXl2 gene (3q22), may be reflex distance, and maximal levator function if
possible. Homer syndrome
associated with female infertility, also a locus at
-Anterior segment evaluation to reveal iris - Double elevator palsy
7q34.
heterochromia of Harner syndrome. - Hypotropia
GENERAL PREVENTION Check for "reversal" of ptosis in downgaze. - Congenital fibrosis of extraocular muscles
Genetic counseling where appropriate Congenital myogenic ptotic eyelids are typically - Rarely myasthenia gravis, myotonic dystrophy,
Otherwise no specific intervention short. Dawngaze may reveal lower eyelid an normal chronic progressive external ophthalmoplegia,
side. birth trauma, orbital tumors
PATHOPHYSIOLOGY - Blepharaphimosis syndrome
Dysgenesis of levator palpebrae muscle: Decreased -Evaluate eyelid position while child is drinking
from battle or chewing for Marcus-Gunn -Pseudoptosis in cases of microphthalmia or
contractile force of the levator muscle. enophthalmos
Jaw-Wink phenomenon.
ETIOLOGY -Full systemic examination for malformation is
Usually idiopathic, possible genetic factors. indicative of an associated systemic syndrome.
COMMONLY ASSOCIATED CONDITIONS DIAGNOSTIC TESTS a INTERPRETATION
Marcus-G unn Jaw Wink phenomenon (2%) Lab
Amblyopia Initial lab tests
Strabismus None
Chin lift Electrocardiography in cases of suspected chronic
Brow lift progressive ophthalmoplegia
Refractive error (myopia or astigmatism)
576
PTOSIS-CONGENITAL
REFERENCES
I
1. Nakashima M, Nakano M, Hirano A, et al.
MEDICATION FOLLOW-UP RECOMMENDATIONS Genome-wide linkage analysis and mutation
o Observation may be indicated in mild congenital analysis af hereditary congenital blepharoptosls In
RrstLine
None. ptosis cases when there is no obstruction of the a Japanese family. 1Hum Genat 2008;53(1 ):34-11.
visual axis,. induced refractive error, or anomalous 2. Clark BJ, Kemp EG, Behan WM, et al. Abnormal
Second Line head position. Conlinued follow-up indicated to extrac:ellular material in the levator palpebrae
May need ocular lubrication (e.g., artifidaI tear monitor for amblyopia. superioris romplex in rongenital ptosis. Arch
ointment}, espeda lly as child gets oldet if sign meant If diagnosed in infancy, follow up when child is Ophrhalmol 1995;113(11):1414-9.
corneal 9p05ure due to lagophthalmos when sitting up to evaluate ptosis, visuaI axis, and 3. Berry-Brincat A. Willshaw H. Paediatric
sleeping. anomalous head position. blepharoptosis: A10-year review. Eye 2009;23(7):
ADDITlONAL TREATMENT - Repeat pupil, motility, and cydoplegic refraction 1554-9.
Generall'tfecuutes for changes. 4. Oral Y, Ozgur 0 R. Akcay L., et aI. Congenital ptosis
Glasses for refractive error If surgery performed and amblyopia. 1 Pediatr Ophrhalmol Stlabismus
Patdling or atropine penaIizatian for amblyopia as o Usually 4-7 days postoperative 201 0;47(2):101-4.
needed - Follow up at 1 and 4 months, then every 6 months.
Taping lid shut at night may be helpful In cases of - Recurrenc:e of ptosis may require repeated
significant lagophthalmos while sleeping particularly surgeries over years. . CODES
if corneal exposure develops. l'etient NlonifJoring
If secondary, then treatment of primary disorder Must monitor for recurrent ptosis. induced ICD!J
(e.g., strabismus surgery for hypatropia) astigmatism, amblyopia, and anomalous head 743.61 Congen itaI ptosis of eyelid
position (3). 743.62 Congen itaI deformities of eyelids
Issues for Refem~l
If considering aanial nerve Ill palsy, Horner PATIENT EDUCATION
syndrome, chronic progressive ophthalmoplegia, Patients and or parents need to understand
consult pediatric neurologist or recurrence of ptosis and need for continued follow CLINICAL PEARLS
neullXIphthalmologist. up to screen for amblyopia and refractive error. Old photos may reveal chronldty af ptosis and
- Genetic counseling if indicated o http://www.mdjunction.comlcongenital-ptosis torticollis, or variability in cases of myasthenia gravis.
SURGERY/OTHER PROCEDURES PROGNOSIS Check for Bell's phenomenon to assess risk of
Surgery when amblyopia likely or for significant chin Excellent w1th ronslstent follow-up care. exposure keratopathy secondary to lagophthalmos
up position post surgery.
- If poor levator musde function (usually < 4 mm), COMPUCATIONS o Consider neurologic causes in differentiaI diagnos~
frontal is suspension surgery 0 Amblyopia if sign meant ptosis is not addressed.
(4) Monitor throughout the first decade for amblyopia,
-When adequate levator musde function, levator refractive erro~ and chin up head position.
- Recurrent ptosis may occur at any time.
resection surgery
- Infections or granulomas can occur In the early In bilateraI cases. en in up head position does not
IN-PATIENT CONSIDERATIONS postOperative period following frontalis sling prove the absente of amblyopia.
Dlsdlal!ll CrlteiM surgery, and may require return to operating room
Usually sa me day surgery with discharge when stable for indsion and drainage, and systemic antibiotics..
post anesthesia. - lid asymmetry may require repeat surgery.
- Exposure keratopathy In some cases of
lagophthalmos
577
PUPillARY BLOCK GLAUCOMA
Tak Yee Tania Tai
L Jay Katz
~ BASICS Increased pressure differential between the Pathological Findings

posterior and anterior chamber leads to convexity of Apposition of the peripheral iris and trabecular
iris and apposition of iris to trabecular meshwork, meshwork
DESCRIPTION leading to decreased aqueous outflow and Glaukomflecken---patchy anterior subcapsular
Pupillary block. is the most common mechanism increased lOP (1)[A]. opacities. foci of anterior subcapsular epithelial cell
responsible for angle closure. necrosis, associated with severe elevation of lOP
It is caused by increased resistance to flow of Posterior synechiae resulting from inflammation can
aqueous from the posterior chamber to t11e anterior also lead to pupillary block. DIFFERENTIAL DIAGNOSIS
chamber. Causes of open-angle glaucoma
Hyperopia Neovascular or inflammatory glaucoma
EPIDEMIOLOGY Choroidal swelling or detachment
lnddence Pseudoexfoliation
Spherophakia Medication-induced narrow angles
The incidence of pupillary block. increases with age Posterior segment tumor
and is greater in females. Intumescent cataract
Aqueous misdirection syndrome
Nanophthalmos
Angle closure peak.s in incidence between 55 and PAS
70 years of age (1 )[A]. Retinopathy of prematurity
Ciliochoroidal expansion syndromes
Prevalence
About 22 million people worldwide are affected
witl1 primary angle-closure glaucoma (PACG).
Lens subluxation (e.g., Marfan's syndrome,
homocystinuria) (2)[A]
fl TREATMENT
MEDICATION
About 90% of patients with angle closure have
relative pupillary block. as the underlying mechanism
(2)[A].
~ DIAGNOSIS First Line
Prostaglandin agonists (e.g., latanoprost,
HISTORY bimatoprost. travoprost)
The prevalence of PACG in the European population Beta-blockers (e.g., timolol, levobunolol)
Symptoms of eye pain, blurry vision, or haloes in
is approximately 0.1 %. Selective alpha-2 receptor agonists (e.g.,
vision
The prevalence of PACG is higher in Asians, Eskimos Family history brimonidine)
(~0.5% of population, ~2-3% of those older than History of retinal problems Topical carbonic anhydrase inhibitors (e.g.,
40 years), and Inuits (1)[A]. dorzolamide, brinzolamide)
Recent laser treatment or surgery
Medications Systemic carbonic anhydrase inhibitors (e.g.,
RISK FACTORS
metl1azolamide, acetazolamide)
Increasing age
PHYSICAL EXAM lnb'avenous mannitol
Asian, Eskimo, or Inuit ethnicities Check for an afferent pupillary defect or nonreactive
Female gender pupil. Second Line
Hyperopia Miotics (e.g., pilocarpine}-may be ineffective during
Slit lamp exam of anterior segment presence of
Spherophakia acute attack due to pressure-induced ischemia of their
anterior chamber cell or keratic precipitates, anterior
iris-may be used after lOP has been reduced to
Lens dislocation chamber depth, presence of a cataract, lens
break pupillary block.
Chronic anterior uveitis position, presence of glaukomflecken, posterior
synechiae, and corneal edema ADDITIONAL TREATMENT
May be precipitated by topical mydriatics, miotics
Gonioscopy. indentation with 4-mirror lens General Measures
(rarely), systemic anticholinergics, accommodation,
and dim illumination (3)[A] Early peripheral anterior synechiae (PAS) superiorly Lower the lOP with medical b'eatment first. if
lOP possible.
Genetics A paracentesis may be performed to lower the lOP.
Examination of the fundus looking for signs of
There is heritability in angle-closure glaucoma; If the cornea remains cloudy, topical glycerin can be
central retinal vein occlusion, hemorrhage, optic
however, specific genes have not been identified. used to temporarily clear tl1e cornea for laser
nerve cupping, or uveal effusion
GENERAL PREVENTION therapy.
Laser peripheral iridotomy (LPI) is the standard Definitive management requires peripheral laser
Lab iridotomy or surgical iridectomy, or lens extraction
treatment for prevention of angle closure in eyes with Lab tests as indicated for clinical suspicion of
occludable angles due to pupillary block. (3)[A]. and/or filtering procedure.
associated conditions
PATHOPHYSIOLOGY Issues for Referral
Imaging Inability to lower the lOP to a safe level using medical
Increase in resistance to aqueous flow from the Ultrasound biomicroscopy or optical coherence
posterior chamber to the anterior chamber or laser therapy may require referral to a glaucoma
tomography in dark and light conditions may be specialist for surgical intervention.
The resulting increase in intraocular pressure (lOP) indicated if diagnosis or etiology of apparent pupillary
leads to retinal ganglion cell damage. block is uncertain. Additional Therapies
EnOLOGY Diagnostic Procedures/Other Corneal indentation with a soft instrument may lower
Aqueous is produced into the posterior chamber and Provocative tests for pupillary block have high tl1e lOP during an acute pupillary block attack by
normally flows between the posterior surface of the false-positive and false-negative rates. These tests forcing aqueous into the peripheral anterior chamber,
iris and the anterior lens capsule (in phakic eyes) or include the following: temporarily opening the chamber angle and allowing
intraocular lens (in pseudophak.ic eyes) or hyaloid - Prone darkroom test aqueous outflow (3)[A].
face (in aphakic eyes). - Pharmacologic dilation of pupil (3)[A]
Relative resistance to flow of aqueous from tl1e
posterior to anterior chamber is usually present;
however, the resistance may increase when channel
becomes more narrow or longer (e.g., posterior
movement of iris insertion, anterior movement of
lens, extreme miosis, increase of lens size).
578
PUPIUARY BLOCK GLAUCOMA
I
1. Tarongoy P. Ho CL Walton DS. Angle<losure
Argon laser peripheral iridoplasty may be helpful in FOLLOW-UP RECOMMENDATIONS glaucoma: The role of the lens In the pathogenesis.
cases of acute pupillary block glaucoma where o Follow-up is variable and depends on the therapeutic prevendon, and treatment. SUN Ophfhalmol
corneal edema, shallow anterior chamber, or ma~ modality used and the level of lOP at discharge.
inflammation renders an LPI unfeasible or unsafe or
2009;54(2}:211-225.
o LPI should be performed if the anterior chamber 2. Ritch R. Chang BM. Uebmann JM. Angle closure in
in cases that are unresponsive to LPI by dliiWing itJe
pe~ pherallrls <NR'f from the anterior chamber angle
angle Is occludable In the contralateral eye at a younger patients. OJi!thalmo/ogy 2003;11 0(10}:
and allowing aqueous flow and decrease of lOP (4}[AJ. follow-up visit 186D-1869.
Patient NIDnltorlng 3. Shields MB. Pupillary-block glaucoma, Chap. 12.
SURGERY/OTHER PROCEDURES Sequential gonioscopy on follow-up visits should be In: Shields' textbook ofglaucoma. Allingham RR
In acute pupillary block angle<losure performed to assess for progressive narTowing of the Damji KF, Freedman S, et aI. eds, 5th ed, 2005. '
glaucoma--perform LPI if possible, and safe to do angle or PAS. 4. Lam DS, Lai JS, lham CC, et al. Argon laser
so. peripheral iridoplasty versus conventionaI systemic
Surgical peripheral iridectomy may be performed if a PATIENT EDUCATION medical therapy in treatment of ao.rte primary
laser iridotomy is not possible. o Patients at risk of pupillary block or angle closure
angle-d.osure glaucoma: A prospective,
If p~ure re~_ains elevated despite laser iridotomy should be educated on the signs and symptoms of randomized, controlled trial. Ophthalmology
or peri pheralindectnmy and medications. filtering an acute angle closure attadc. (e.g., acute eye pain 2002;109(9}:1 591-15%.
surgery (trabeculectomy) and/or cataract extraction and blurry vision, seeing haloes), and counseled to 5. Aung T, Ang LP. Chan S, et al. Atute primary
may be necessary. seek ophthalmological attention Immediately If
angle-dosure: Longterm intraocular pressure
Cataract extraction alone may be performed to these symptOms occur.
outcome In Asian eyes. Am J Ophtllalmo/ 2001
lessen pupillary block in nonacute cases with Iittle o Family members should be examined. 131(1):7-12. '
PAS or in cases of pupillary block due to lens PROGNOSIS
subluxation or spherophakia.
o LPIIs not reliably protective against chron 1c angle A1llt, See Also (Tapic, Al1arithm, Electronic
IN-PATIENT CONSIDERATIONS dosure---ln a study of LPIIn Asian eyes, 100% had ~ Media Ele111ntl
Initial Stabilization resolution of acute attack after LPI; however, 58.1 %
See medical management ab!M!. Plateau iris
subsequently developed elevated lOP requiring
Admission CrttMia treatment and 32.7% required trabea.dectomy for
lnabilily to lower the lOP to a safe level ao.rtely using pressure control (5)[8[.
. CODES
either medical or laser therapy o The fall ure of LPI to prevent recurrent lOP elevation
IV Fluids has been coiTelated with the amount of PAS present ICD9
Diamox and/or mannitol if necessary to lower lOP in these eyes. 365.6t Glaucoma assodated with pupillary block
IV fluids may be necessary, if patient is vomiting o Progression of angle closure and PAS may continue
actM!Iy. after successful LPI.
COMPUtATIONS
CLINICAL PEARLS
Nursing
No special recommendations o Glaucoma Indentation gonioscopy is essential in evaluating
o Loss of vision narrow angles.
Discharge Crltetfa o Aalte angle dosure
Successful lowering of lOP to a safe level In eyes with narrow angles, PAS are found most
commonly in the superior quadrant.
579
PURTSCHER'S RmNOPATHY
Andre J. Witkin
Sunir J. Garg
~ BASICS
ETIOLOGY The lesions are posterior to the equator_
Typically, Purtscher's retinopathy occurs in Minimal retinal hemorrhages are seen.
association with severe head, chest, or long bone No emboli are visible in retinal vessels.
DESCRIPTION trauma_ late in the disease course, patients may develop
An acute, usually bilateral, patchy, posterior retinal However. systemic medical conditions (see below disk pallor. attenuation of the retinal arterioles.
whitening due to crush injuries of the body, or from under Commonly Associated Conditions") may alterations of the retinal pigment epithelium, and
systemic diseases such as pancreatitis also cause retinopathy identical to that caused by nerve fiber layer dropout.
Visual acuity is commonly affected but often severe distant trauma; this has sometimes been
improves somewhat over time. referred to as "Purtscher-like retinopathy" DIAGNOSTIC TESTS & INTERPRETATION
Lab
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS Typically, Purtscher's retinopathy is associated witll
lnddence Severe head, chest, or long bone trauma bodily trauma.
Very rare eye disease (probably ~ 1/1,000,000) Acute pancreatitis However, the eye findings may be the first
RISK FACTORS Systemic lupus erythematosus manifestation of underlying systemic illness, for
In 1910, Dr. Otmar Purtscher initially described Scleroderma which a systemic work-up may be warranted.
bilateral patchy retinal whitening witll hemorrhage Dermatomyositis Imaging
in a patient who had sustained severe head trauma. Fat embolism syndrome Fluorescein angiography (FA) typically shows
Purtscher's retinopathy also occurs following severe Amniotic fluid embolism multiple areas of small arteriolar occlusion and
chest trauma and with long bone fractures. Chronic renal failure capillary dropout (nonperfusion). with late leakage
Similar findings have also been described in a variety Childbirth in areas of retinal whitening_
of systemic diseases (see list under "Commonly Cryoglobulinemia Optical coherence tomography (Den initially shows
Associated Conditions"), which have sometimes Hemolytic uremic syndrome/thrombotic swelling of tile nerve fiber layer, followed by
been referred to as Purtscher's-like retinopatlly. thrombocytopenic purpura thinning ofthe inner retina.
PATHOPHYSIOLOGY Pathological Findings
Experimental data suggest that Purtscher's
retinopathy is likely a microembolic phenomenon. ~ DIAGNOSIS Findings on pathology are likely similar to those found
in cotton wool spots, including retinal capillary
Possible activation of complement witll secondary HISTORY obliteration and distension of the nerve fiber layer
granulocytic reaction. Acute painless vision loss that occurs 1-2 days after (cytoid bodies).
The embolic particles may consist of fat, air, or fibrin_ trauma_ DIFFERENTIAL DIAGNOSIS
Disseminated intravascular coagulation may be Usually bilateral, although it may be asymmetric_ Branch or central retinal artery occlusion
anotller cause. Vision loss ranges from very mild to very severe_ Commotio retinae
Sparing of larger retinal vessels suggests History of direct ocular trauma should be excluded. Valsalva retinopatlly
involvement of precapillary arterioles.
PHYSICAL EXAM Shaken baby syndrome
Typically, multiple areas of polygonal retinal Terson's syndrome
whitening are seen between the retinal arterioles Blood dyscrasias
and ven ules (Purtsdrer Flecken)_ Fat embolism syndrome
Cotton wool spots may also be seen in one or both HIV retinopathy
eyes_ Interferon retinopathy
lupus retinopatlly
580
PURTSCHER'S REnNOPATliY
ADDITIONAL READING
I
. TREATMENT ONGOING CARE Bhan K. Ash lq A, Arallkattl A, et al. lhe Incidence of
MEDICATION FOLLOW-UP RECOMMENDATIONS Purtscher retinopathy in acute pancreatitis. Br1
No treatments are recommended to treat Extent of visual recovery may be related to duration Ofilthalmol 2008;92(1):151-153.
Purtsd1er's retinopathy. of retinal whitening. Agrawal A. McKibbin M. Purtsther's retinopathy:
Arry underlying systemic disease, however, should be In patients with shorter duration of retinal epidemiology, clinical features and outcome. Br1
treated to prevent further retl nal damage. whitening, visual aOJily has been shown to improve. Ofllthalmol 2007;91(11):1456-1459.
Patients w1th longer-standing retinal whitening have Agrawal A. McKibbin MA. Purtsther's and
ADDITIONAL TREATMENT a more dismal visual prognosis. Purtscher-like retinopathies: a review. SUN
Issues for Ret.al Ofllthalmol 2006;51(2):129-136.
Because of the array of systemic diseases that are Patient Monitoring
If an active systemic Illness Is the cause of the Holalc. HM, Holalc. S. Prognostic factors for visual
associated with Purtscher's retinopathy, referral is outcome In Purtscher retlnopalhy. SUN Ophrhalmol
dependant on the systemic condition responsible for retinopathy, patients shoold be examined at close
intervals to assess if there is worsening of the 2007;52(1):117-118; author reply 118-119.
the ocular findings.
retinopathy.
Collaboration with a trauma specialist. internal
Subsequently, patients may be monitored at longer
medidne. gastroenterology, nephrology, or
meumatology may be warranted. intervals. i ; coDES
If visual acuity loss is profound, eventual referral to PATIENT EDUCATION ICD9
a low vision specialist can be beneficial. Patients should be aware lhat loss of visual acuity Is 360.43 Hemophthalmos, except current injury
often longstanding; however, vision loss typically does
not worsen. 362.83 Retinal edema
PROGNOSIS
Prognosis for visual recovery is guarded, although the CLINICAL PEARLS
disease is typically acute and nonprogressive.
Acute bilateral disease causing patchy whitening of
COMPLICATIONS the posterior Inner retina
Optic nerve damage may be present to varying Typically caused by distant and severe head, d1est.
degrees and manifests on fundus examination as optic or long bone trauma
atrophy later In the disease course.
Identical findings have also been reported In
assodation with a variety of other systemit illnesses,
mast commonly pancreatitis.
VIsual acuity typically affected, but the degree of
loss is variable.
581
RADIATION KERATOPATHY
David R.P. Almeida
Kelly D. Schweitzer
Stephanie Baxter
PATHOPHYSIOLOGY
Radiation generates highly reactive free radicals
which inhibit mitosis, damage cellular DNA. and
DESCRIPTION render the cell incapable of repair and replication HISTORY
The cornea absorbs the majority of ultraviolet (UV) leading to cell death. Eliciting an accurate history on timing, type, and
(1D-8 m) and X-ray (10-10 m) energy in the Free radicals are produced directly by electrons from duration of radiation exposure and on ocular
radiation spectrum. the radiation source or indirectly by electrons from protection is key.
Acute or chronic damage may occur to all corneal the irradiated tissues. Ocular pain and irritation, redness, foreign-body
layers (epithelium, stroma, endothelium) in a sensation, photophobia, and tearing
cumulative fashion secondary to photochemical ETIOLOGY May be associated with decreased visual acuity
reactions. heat, structural changes, or metabolic Photokeratitis secondary to UV radiation (e.g., solar Symptoms develop ~6-12 h after UV exposure or
disturbance. exposure or reflection. welder's or carbon arcs, hours-toyears after radiation therapy exposure.
tanning beds, lightning sparks)
It is often the earliest cause of vision loss PHYSICAL EXAM
post-periocular radiation therapy. Brachytherapy: Direct irradiation secondary to
radiation therapy of intraocular tumors Diffuse epithelial erosions
EPIDEMIOLOGY Indirect irradiation within the field of external beam Frank epithelial defects
Incidence radiation (X-ray teletherapy) for paranasal sinus Filamentary keratitis secondary to epithelial toxicity
Photokeratitis secondary to UV radiation is tumors, eyelid lesions, or CNS neoplasms Stromal edema from loss of epithelium or from
uncommon. The above may result in direct injury to the cornea or endothelial dysfunction
Radiation keratopathy secondary to X-ray radiation indirect injury due to tear film abnormalities Stromal ulceration from direct toxicity to keratocytes
is rare. secondary to lacrimal and meibomian gland (more frequent at high radiation does >60 Gy over
Prevalence dysfunction, or conjunctival goblet cell loss. 6 weeks)
Unknown COMMONLY ASSOCIATED CONDITIONS Endothelial granules and keratic precipitates
Pinguecula, pterygium Anterior chamber flare and cell
RISK FACTORS
Spheroidal degeneration Corneal opacification, neovascularization,
Sun exposure, especially at high altitudes. without
Hyperkeratosis keratinization, thinning or perforation in advanced
protective eyewear
Endothelial dystrophy cases
Occupational exposure (e.g., welder)
Ocular, CNS, head and neck neoplasm treated with Squamous metaplasia, carcinoma DIAGNOSTIC TESTS & INTERPRETATION
radiation therapy >60 Gy Epidermoid carcinoma of the bulbar conjunctiva Imaging
Preexisting ocular surface disease or a denervated associated with UV radiation Accurate clinical drawings combined with anterior
cornea segment photographs to assess for progression of
disease and response to treatment
Genetics
No specific genetic association Diagnostic Procedures/Other
Pachymetry could be considered to monitor corneal
GENERAL PREVENTION thickness in both edematous and thinned corneas.
Protective eyewear and limited UV exposure time If infectious corneal ulceration is suspected, corneal
Ocular considerations in the radiation treatment plan scraping for culture and sensitivity may be required.
including ocular and lacrimal gland shielding are
critical in the prevention of radiation keratopathy.
582
RlDIATlON KERATOPAlHY
Patholog/GIJ Findings SURGERY/OTHER PROCEDURES mMPUCATIONS

Involutional atrophy of melbomlan and laalmal If risk of perforation or sewre comeal changes occur Umballschemla and llmbal stem cell deficiency
glands post periorular radiation treatment
Conjunctival goblet cell loss and squamous
metaplasia
Trauma
Exposure keratopathy
DIY eye syndrome
due to tear film abnormalities, conjunctival flaps or
am niatic membrane grafting may be considered.
Limbal stem cell transplantation may be considered
with persistent evidence of llmbal stem cell
defidency.
IN-PATlENT CONSIDERATIONS
Admission Criteria
Nonhealing epitheliaI defect or ulceration
Secondary infectious keratitis
Panophtha!mitis
Corneal vascularization, opacification, perforation,
lipid infiltration
Neurotrophic and exposure keratopathy from aanial
nerve 5 and 7 dysfunction
I
,
Topical drug lllxicity If the patient is unable to meet the significant
rl TREATMENT
MEDICATION
demands of ocular Iubrication due to physical or
cognitive defldt5, admission Is required.
Severe corneaI ulceration may require admission.
Nuning
ADDITIONAL READING
Barabino S, et al. Radiotherapy-induced OCI.IIar
surface disease. Cornea 2005;24(8):909-914.
Hospital care staff must be Informed of the Importance Cullen A. Photokeratitis and other photoiDxic effKts
RrstUne on the cornea and conjunctiva./nt l Toxico/
regarding intensive ocular lubrication treatment
Aggressive lubrication (q1-2h) with 2001 ;21 :455-464.
regimens.
preservative-free tears and ointment recognizing
Discharge Criteria Kwok SK, et aI. An analysis of the incidence and risk
that the irradiated cornea has a poor capacity to heal
An established care system that is capable of meeting factors of developing severe lceratDpathy in eyes
Topical antibiotic drops (t.l.d.-(l.l.d.) combined with after megavoltage external beam Irradiation.
ointment at bedtime the treatment pian demands
Ophtltalmo/ogy 1998;105:20 51-2055.
Cydoplegia
Bandage contact lens or pressure patch In patients $ ONGOING CARE
with significant loss of epithelium
. CODES
Prompt diagnostic and therapeutic measures for
Infected corneal ulcers After aaJte stabilization, regularly scheduled
ICD9
Eye protection for the affected and unaffected eye follow-ups post-treatment are necessary to diagnose
940.4 Other burn of cornea and conjunctival sac
late ocular surface changes if histol'1 of large doses of
S<ndUne radiation. 990 Effects of radiation, unspedfled
Oral analgeslcs
PATIENT EDUCATION
ADDITIONAL TllEATMENT
Issues for Referral
Emphasis on preventative strategies to avoid CLINICAL PEARLS
re-injury
Nonheallng epithelial defects Commitment to lifetime maintenance treatment for Proper documentation of whether the protective
Infected corneal ulcers radiation thelllpy-1 ntluced keratopathy eyewear was worn at the time af Injury Is necessary
Advanced corneal scarring Emphasis on eye protection with unilateralloss of for legal and workmen's compensation cases.
Corneal thinning or perforation vision to protect a well-seeing eye Progression of comeal injury can be extensive so
dose follow-up (24--4i h) Is warranted early until
PROGNOSIS full extent of injul'1 is ascertained.
It depends on the type and extent of radiation injul'1 Commitment to ophthalmologic follow-up and
and use of ocular and lacrimal gland shielding. maintenance treatment can prevent or minimize
UV ln]ury prognosis Is generally excellent. many long-term radiation problems.
583
RADIATION OPnC NEUROPATHY
Matthew D. Kay

Radiation therapy to regions involving or adjacent to
the optic apparatus
~ DIAGNOSIS
DESCRIPTION Patients with diabetes mellitus or who have received HISTORY
Acute onset of visual loss which may be unilateral or adjunctive chemotherapy may be at higher risk for Progressive painless unilateral or bilateral visual loss
bilateral in an individual with a history of having developing RON. over the course of several weeks
undergone radiation therapy usually for !umors History of undergoing radiation therapy.to anatomic
involving or in close proximity to th.e opt1~ apparatu~ GENERAL PREVENTION regions involving or adjacent to the optic apparatus
(i.e., optic nerve, chiasm, or tract), mclud1ng the orb1t, Limiting dosimetry of fractionated radiation therapy Second eye involvement, if it occurs, generally
parasellar region, and paranasal sinuses when possible to fractions of ::::; 200 cGy and total develops within few weeks of initial eye onset.
dosage to ::::; 5.400 cGy
ALERT -safe dose" of gamma knife radiosurgery PHYSICAL EXAM
Acute onset of unilateral or bilateral visual loss in a adjacent to optic apparatus unclear but estimated Demonstrates features of an optic neuropathy:
patient with a history of radiation therapy to regions around 8,000-1 0,000 cGy Decreased visual acuity (usually severe); decreased
involving or adjacent to the optic apparatus (e.g., color vision; nerve fiber bundle-type visual field
PATHOPHYSIOLOGY defects though may have temporal defects or
eye, optic nerve, optic chiasm, optic tract, paranasal Unclear whether primary insult is secondary to
sinuses, sella/parasellar regions) should prompt homonymous defect if involvement of the optic
radiation vasculitis or direct parenchymal injury to the chiasm or tract, respectively; afferent pupillary defect
urgent referral to an ophthalmologist or a optic apparatus secondary to the effects of radi.ation
neuro-ophthalmologist in order to evaluate for the if unilateral or asymmetric optic nerve involvement
therapy or a combination of these two mechamsms Affected optic nerve usually normal in appearance
potential benefit of hyperbaric oxygen therapy and
ETIOLOGY or pale from prior compression by radiated lesion;
to exclude alternative etiologies (e.g., recurrent
Adverse effects of radiation either directly on the optic occasionally edematous (if anterior optic nerve
tumor) that warrant treatment to preserve or restore
apparatus or on its vascular supply involved)
visual function.
Optic nerve pallor develops within 6-12 weeks if
Tumors (malignant or benign) in regions involving or not present at onset from prior compression
EPIDEMIOLOGY
adjacent to the optic apparatus Possible concurrent radiation retinopathy
lnddence
If <5,000 cGy total dose, radiation optic
neuropathy (RON) rare
If 5,000-6,000 cGy total dose, 5% 10-year actuarial
risk of RON
Majority of cases occur within 3 years of radiation
therapy with a peak of 1.5 years.
Prevalence
Unknown, but extremely rare
584
RADIATION OPTIC NEUROPATHY

Imaging . TREATMENT Generally poor with most affected eyes having visuaI
MRl orbits through chiasm w1th and without contrast acuity < 201200 and 45% of eyes with no light
with post-<Ontrast fat suppressed images: ADDmONAL TllEATMENT perception In spite of attempts at therapelltlc
- MRI demonstrates segmental enhancement of the Genetal Measures imervention
involved optic nerve(s). chiasm, or trart(s) which No therapy o1 uniformly accepted efficacy COMPLICAnONS
I
may be OVI!rloola!d as involvement may be limited Hyperba~c oxygen therapy of potential benefit In Permanent unilateral or bilateral blindness
to a single acquired image slice. selected cases though efficacy remains comroversiaI
Diagnostic l'rDcedutn!Other Nunlng
Lumbar puncture to be considered to evaluate for Appropriate precautions far a blind patiem in setting
ADDITIONAL READING
meningeal ca rtinoma!Dsis and serologic testing for of bilateral visual loss if the patient admitted to Arnold AC. Ischemic optic neuropathy. In: Miller NR,
paraneoplastic syndrome if MRI not typical for RON hospital or other in-patiem care fad Iity Newman NJ, eds. Walsh and Hoyts dinica/
Pllthological Findings neurrrophthalmo/ogy. 6th ed. Philadelphia:
Ischemic demyelination, reactive astrocytOSis, Lippincott Williams Wilkins, 2005:374-376.
endotheliaI hyperplasia, obliterative endarteritis, and $ ONGOING CARE Levy RL. Miller NR. Hyperbaric oxygen therapy far
fibrinoid necrosis of optic nerves FOLLOW-UP RECOMMENDATIONS radiation-induced optic neuropathy. Ann Aud Med
DIFFERENTlAL DIAGNOSIS Referral for IDW" vision evaluation and blind services if Singapore 2006;3 5:1 51-1 57.
Infiltrative optic neuropathy secondary to severe bilateral visual loss
malignancy Patient Monltl>rlng
Compression of optic apparatus secondary to Serial clinical and visual field studies at a frequency tf; coDES
recurrent tumor or radiation-induced pa raseliar determined by an ophthalmologist or a
tumor neuro-ophthalmologist ICD9
Meningeal cardnomatosis with optic nerve 377.34 Toxic optic neuropathy
PATIENT EDUCAnON
Involvement If hIstory of malignancy Explain poor visual prognosis and lade. of proven
Toxic optic neuropathy secondary to chemotherapy if
previously administered
effective therapy for condition CLINICAL PEARLS
Instruct to calli mmediately for any YlsuaI changes
Paraneoplastic optic neuropathy or retinopathy if Acute onset of painless unilateral or bilateral visual
history of maIignancy loss in an individual with a history of radiation
Aractmoldltls therapy to regions involving or adjacent to the optic
apparatus should prompt strang consideration of
RON if recurrent tlJmor excluded by brain and orbital
Imaglng studies.
585
RADIATION RmNOPATHY
Chris S. Bergstrom
Diagnosis is usually made clinically.
Fluorescein angiography may show microaneurysms,
DESCRIPTION HISTORY telangiectasias, capillary nonperfusion,
Radiation retinopathy is a delayed onset, chronic, Previous radiation treatment to the eye. orbit. head, or neovascularization, and cystoid macular edema.
progressive, occlusive vasculopathy of the retinal neck.
Optical coherence tomography may demonstrate
circulation resulting from previous radiation PHYSICAL EXAM cystoid macular edema.
treatment to the eye, orbit, head, or neck. Capillary dilation
- It can be divided into nonproliferative and DIFFERENTIAL DIAGNOSIS
Telangiectasias Diabetic retinopathy, hypertensive retinopathy,
proliferative retinopathy.
Microaneurysm arteriole obstruction, venous occlusions, ocular
EPIDEMIOLOGY Cotton wool spots ischemia syndrome
Incidence
Varies by total radiation dose, mode of delivery
(brachytherapy vs. external beam), fraction size, and
isotope.

Macular edema
lntraretinal hemorrhages
Lipid exudates
Vascular sheathing
rJ TREATMENT
Rare when dose is <40 Gy. Neovascularization of the retina, disc, or iris
Incidence peaks 2-3 years post radiation exposure. General Measures
Vitreous hemorrhage Loss of visual function due to nonperfusion is
Prevalence Retinal detachment irreversible and permanent.
Depends on the length of follow-up
DIAGNOSTIC TESTS & INTERPRETATION Focal or grid laser treatment may be beneficial for
RISK FACTORS Lab vision loss associated with macular edema.
Diabetes Careful slit lamp examination for anterior segment Panretinal photocoagulation is indicated for optic
Chemotherapy neovascularization nerve, retinal, or anterior segment
High dose per fraction Tonometry and gonioscopy to monitor neovascular neovascularization.
PATHOPHYSIOLOGY glaucoma Additional Therapies
Loss of retinal capillary endothelial cells leading to Anti-VEGF (bevacizumab or ranibizumab) therapy for
vascular incompetence and eventually occlusion and macular edema or neovascularization may provide
nonperfusion. short-term benefit.
EnOLOGY
Radiation induced free radical formation causing direct
damage to endothelial cells. Radiation induced
damage to cellular chromosomal DNA.
586
RADIAnDN REnNOPATliY
COMPLEMENTARY & ALTERNATIVE PROGNOSIS Gunduz K. Shields CL, Shields JA. l!t al. Radiation
THERAPIES Radiation retinopathy is a slowty progressive condition retinopathy following plaque radiotherapy for
Monorular precautions that often leads to Irreversible vision loss. posterior uveal melanoma. Arch Ophthalmol
POlyea !bonate lenses I 999;117:609-614.
COMPUCATlONS
Visual loss Monroe AT, Bhandare N, Morris CG, et al.
SURGERY/OTHER PROCEDURES Pri!VI!nting radiation retinopathy with
Vitredllmy surgery for patients with vitreous Neovascular glaucoma
I
hypetfraclionation. lnt J Radiat OncoJ Bioi Phys
hemorrhage or retinal detachment. 2005;61 :856-864.
ADDITIONAL READING
$ ONGOING CARE
Archer DB, Arnoaku WM, Gardiner TA. Radiation . CODES
FOU.OW-UP RECOM MENDA110NS retinopathy- clinical, histopathological,
AA ophthalmologist should be consulted every ultrastrucrural and experimental correlations. Eye ICD9
3-6 months. 1991;5:239--251. 362. 10 Background retinopathy, unspecified
Patient Monitoring 362.15 Retinal telangiectasia
Monitor visual aruity, lOP, slit lamp exam, and dilated 362.29 Other nondiabetic proliferative retinopathy
fundus exam for neovaswlar complications.
587
Harminder S Dua
Dalia G. Said
~ BASICS
Primary: These indude conditions that affect the Imaging
basement membrane of the corneal epithelium. In vivo confocal microscopy can be used to
DESCRIPTION - EBMD of which map dot fingerprint dystrophy demonstrate features of the underlying pathology, but
Recurrent corneal erosion syndrome (RCES) is (MDF) is the most common. Reis Bucklers and these are not specific to RCES. For example,
characterized by episodes of spontaneous breakdown Thiel-Behnke dystrophy. intraepithelial cysts, deposits In basal epithelial cells,
of the corneal epithelium associated with symptoms - Stromal dystrophies such as granular and lattice subbasal microfolds, reduplicated basement
ranging from ocular discomfort to severe pain. It is dystrophy membrane, damaged subbasal nerves, and altered
usually unilateral and is associated with awakening - Idiopathic morphology of anterior stroma can be seen in MD
from sleep. It may be primary or secondary. Secondary: Trauma to the corneal surface with without erosions.
EPIDEMIOLOGY organic matter such as twigs, leaves, paper and Diagnostic Procedures/Other
finger nails is the commonest cause of RCES.
Incidence Diagnosis is essentially based on history and clinical
The incidence is unknown as the milder forms of the features. Specific lab or other tests are not required.
condition may go undiagnosed. ~ DIAGNOSIS Pathological Findings
Prevlence Histopathology:
The disease is reported to occur more tommonly in HISTORY -Epithelium: Intercellular edema, accumulation of
women, is more in the third and fourth decades, and is Corneal trauma, which may be some time in the connective tissue debris, flattening of basal cells,
bilateral in 10% of cases. past. intraepithelial polymorphonuclear cells,
Recurrent attacks of pain, redness, photophobia, intraepithelial cysts containing cellular debris, and
RISK FACTORS and watering which may last from a few minutes to degenerating cells
Tiredness, menstruation, menopause, and alcohol several days. The frequency and intensity of episodes - Hemidesmosomes: Abnormal morphology;
intake are aggravating factors. can be variable in the same patient reduced in number. Deficient anchoring fibrils
Nocturnal lagophthalmos The frequency of episodes (number of times in a day, -Basement membrane: Discontinuous and
Trauma week, or month); dll"ation of pain (minutes, hours, fragmented, multilaminar reduplication with
Corneal dystrophies or days) and intensity of pain (on a scale of 1 = extensions into the epithelial cell layers
Diabetes =
slight discomfort to 10 severe pain) should be - Collagenous debris interposed between basal
Genetla recorded in all cases. This helps in monitoring epithelial cells and Bowman's zone.
A familial tendency has been reported among response to treatment and progression.
patients with map dot fingerprint epithelial PHYSICAL EXAM Meesmann's corneal dystrophy: Intermittent rupture
basement membrane dystrophy (EBMD). Lid edema of epithelial microcysts as they reach the surface of
A dominant inheritance has been reported to occur Conjunctival injection the cornea, causing symptoms.
in 3% of cases in one study. Impaired vision Bullous kl!ratopathy: Rupture of fluid filled epithelial
GENERAL PREVENTION Cornea: vesicles or bullae can cause pain.
Avoidance of eye Injury by wearing protective eyewear -Tear film debris and reduced tear break-up time Band keratopathy: When the calcific plaques are
during activities such as gardening - lntraepithelial and subepithelial microcysts thick and erode through the epithelium, the eye
- Punctate erosions staining with fluorescein becomes symptomatic.
PATHOPHYSIOLOGY (microform erosions) Salzmann's nodular degeneration: The nodules
Tear hypotonicity and corneal epithelial edema are - Large epithelial defects staining with fluoresceil often sit proud of the tear film causing poor wetting
implicated. (macroform erosions) with the surrounding hazy of the surface epithelium which is prone to
Increased activity of matrix metalloproteinases loose epithelium breakdown and beoome symptomatic.
(MMP-2 and -9) resulting in enzymic d"ISSolution of -A tag of epithelium attached to one edge of a Eyelid abnormalities: Trichiasis and tarsal
epithelial anchoring structures induding frank defect concretions that have eroded through the covering
hernidesmosomes and anchoring filaments (1)[C]. - ~atures of underlying dystrophy, e.g. fingerprint epithelium can cause repeated mechanical abrasions
Abnormal basement membrane, abnormal or lines, maps, and dots; granular stromal deposits ofthe cornea.
deficient hemidesmosornes, defective anchoring and lattice lines Meibomian gland dysfunction and dry eyes.
system, and accumulation of collagenous debris -Very often areas of EBMD changes, loose Ocular surface syndrome: Following photorefractive
between and beneath epithelial cells result in easy epithelium, epithelial detachment and keratectomy or LASIK. Usually attributed to aberrant
slippage or tearing of the basal cells from the intraepithelial cysts present as negative re-innervation with tear film instability and
underlying connective tissue. fluorescein staining. These are dark areas (where punctuate keratitis.
Ocular saccades associated with rapid eye the tear film is deficient or breaks instantaneously)
Viral keratitis: A few cases of recalcitrant RCES have
movement phase of sleep can exert shearing forces seen after instilling fluorescein dye and visualized
with cobalt blue light. eventually manifested clinical features of herpes
on the loose or poorly attached epithelium causing
-A frank erosion or epithelial defect (staining simplex viral keratitis. This association is known but
erosions to occur, the pain thus waking the patient.
positively with fluorescein) is often surrounded by unexplained.
which is subtly different from experiencing pain on
waking or eye opening. an area of negative staining, which indicates the Multiple corneal foreign bodies: Following blast
full extent of the defective epithelium. injury, insect hair, leather fibres (snooker or pool cue
The relative reduced tear secretion during sleep may
- Most of the erosions occur In the lower third to injury). The embedded foreign particles may
contribute by inducing greater friction between the intermittently make their way to the corneal surface
apposing conjunctival and corneal epithelia on eye half of the cornea. Following trauma, the erosions
tend to recur at the same site but primary RCES and extrude causing "foreign body sensation and
lid opening.
may recur at different sites. irritation.
- Subtle corneal changes are best visualized by
retroillumination or indirect illumination on the slit
lamp.
588
Systemic conditions such as epidermolysis bullosa SURGERY/OTHER PROCEDURES REFERENCES

and Jwenlle X-linked AI port's syndrome have The area af positive and negative fluorescein
inherent basement membrane abnormality that staining should be treated: 1. Das S, Seitz B. Recurrent corneal erosion syndrome.
makes the epithelium vulnerable to repeated - Superficial kl!ratectomy, mechanical debridement, Surv Ophthamo/2008;53:3-15.
breakdown. or diamond burr polishing of the loose epithelium 2. Oua HS, L.agnado R, Raj D, et al. Alcohol
Munchhausen syndrome: Self-Inflicted trauma to the and affected area. delamination of the corneal epithelium: An
I
cornea. -Anterior stromal puncture: Multiple punctures alternative In the management of recurrent corneal
rJ TREATMENT
MEDICATION
through the affected epithelium into Bowman's
zonelsuperflclal stroma wtth a 23-25 gauge
needle. This can also be achieved with a Nd:YAG
laser. Can leave behind tiny scars and affect vision
erosions. OfiJtha/malagy 2006;113:404--411.
ADDITIONAL READING
if in the visual axis.
Simple conservative measures such as eye padding Ewald M, Hammersmith KM. Review of diagnosis
- Phototherapeutlc keratectomy: With the exclmer
and use oil ubricating drops. gels, and ointml!llt and rna nagement of recurrent erosion syndrome.
laser ablating the epithelium and 5-7 p.m of
help to provide relief from sym)Ttoms and prevent or Bowman's zone. Can induce a hyperopic shill Cu"Opin OfiJtha/mol2009;20:287-291.
reduce occurrence of erosions In most cases. The especial~ if it has to be repeated.
regular use of ointment.. immediately before going
to sleep is benefidaL - Akohol delamination: With 18-20% ethanol CODES
Eyelid margin cleansing helps if associated with applied to the affected area for 30 s with the help
blepharitis. of a hollow cy11 nd ~cal well (e.g., optical zone
marker) of appropriate diameter. The sheet of ICD9
ADDITIONAL TllEATMENT epithelium removed can be used for histologicaI 371.23 Bullous keratopathy
Ge~~Wi~l MNsu,.s examination (2)[ B]. 37t .41 Recurrent erosion of cornea
When the above conservative measures provide 371.51 Juvenile epithelial corneal dystrophy
Postnperatively a Bandage Contact Lens (BC L) may
partial rei ief or none at all, a therapeutic extended be applied for 1 or
wear (bandage) contact lens should be considered. 2 weeks and the eye treated with antibiotic and
It provides symptomatic relief and encourages lubricant drops. Regular instillation of eye ointment
CLINICAL PEARLS
healing of the epithelium by affording projection before sleeping may have to be continued for a
against the rubbing action of the lids. The lens can
Keep anesthetic drops wr.JY from readl of patients:
while. Use of topical anesthesia helps with dlnlcal
be changed dally, weekly, or monthly depending on
examination of acute episodes, but the instant relief
the patient's preference, environmental pollution,
ONGOING CARE provided may tempt patients to acquire
and prevailing practice. II should be used for at least
anesthetic agents and use them indiscriminately.
6-8 weeks to allow fur remodeling of the basement
membrane and consolidation of hemidesmosomal PATIENT EDUCATION Consider preservative-free lubricants and andblodcs
attachments. Instructions should be given to maintain therapeutic to treat acute episodes and for prophylaxis. if
-The eye should be examined within 24--4i h to contact lens hygiene.. to avoid eye rubbing, and required over a prolonged duration.
ensure that the lens does not tighten on the eye. excessive alcohol intake. When managlng episodes wtth therapeutic
This can cause exacerbation of pain, corneal PROGNOSIS extended wear contact lenses consider use of
edema, and sloughing of the epithelium due to Most patients achieve symptomatic relief and freedom antibiotic (preservative-free) prophylaxis in the
hypoxia. from recurrence with conservative and/or surgical presence of epithelial defects.
- Use of ointment should be avoided whilst using management. Reported success rate Is between 80 In some patients,. RCES episodes are distinctly
the contact lens. and 90%. related to alcohol intake the previous night.
Be wary of the occasional case manifesting a
Issues for Referral COMPLICAnONS
RCES not responding to the above measures dendritic ulcer of disciform keratitis (herpes simplex
Secondary bacte~allniectfon: Corneal ulcer or keratitis} during the course of follow-up.
necessitating surgical intervention abscess. The risk is higher with use of a therapeutic
Additional Therapies extended wear contact lens. Can also oCDJ r
Sodium dlloride 2% drops or 5% ointment helps to following an interventional procedure.
dehydrate the epithelium. Loca llzed comeal stromal haze related to the wound
Oral tetracyclines (e.g., doxycycline 100 mg b.i.d.) as healing response assodated with persistent and
a metalloprotease inhibitor. This provides additional recurrent epithelial breakdown.
benefrt in cases with posterior blepharitis and
rosacea.
Autologous serum eye drops In recaldtra nt cases to
facilitate dosure of epithelial defects and afford
lubrication.
589
RED EYE IN CHilDREN
Judith B. Lavrich
~ BASICS Inflammation inside the eye results in "limbal flush",

an engorgement of the circumcorneal vessels.
Exposure to foreign bodies, individuals with
conjunctivitis, toxins that irritate the eyes, or
chemical splash
Small conjunctival vessels are sensitive to increased
DESCRIPTION blood pressure and microvascular disease causing Ocular symptoms:
The appearance of redness on the surface of the eye them to burst and leak blood under the outer - Eye pain-describe location, duration, and
resulting from enlargement and dilation or lealcage of membrane of the eye {subconjunctival hemorrhage). intensity
the blood vessels of the conjunctiva or episclera With overwear and poor fit. contact lenses can - Foreign body sensation in eyes
EPIDEMIOLOGY decrease the oxygenation of the cornea creating - Discharge from eye-purulent (bacterial), clear or
inflammation. mucous (viral or allergic), stringy white (allergic),
Prevalence
Cavernous fistula can result in conjunctival vascular or tearing (herpes simplex, corneal ulcer, acute
Depends on the etiology of the red eye
engorgement (and "corkscrew vessels") due to a iritis)
RISK FACTORS resistance to venous return andfor increased - Eye irritationfitching
Blepharitis perfusion pressure. - Visuallossfblurred vision
Trauma -Triad of eye pain, light sensitivity, and blurred
Systemic disease {e.g., iritis, chicken pox lesion of
ETIOLOGY vision suggest more serious ocular involvement
Blepharitis
conjunctiva, episderitisfsderitis) PHYSICAL EXAM
Disorders of the lashes: trichiasis, lice
Contact lens wear Detailed eye examination including dilated fundus
Subconjunctival hemorrhage-trauma or
Loss of protective ocular factors: tear film, corneal view, especially if decreased vision or trauma
anticoagulationfplatelet disorders,
sensation, intact corneal epithelium. etc. -Visual acuity in both eyes. Reduced visual acuity
strangulation/asphyxia (consider child abuse),
Infection Valsalva maneuver, hypertension, and diabetes (all may suggest corneal etiology or iritis.
Exposure to noxious chemical by direct contact or uncommon causes in children) - Check pupillary size and shape. Mid-dilated pupil
airborne dispersion in iritis. An irregular pupil may suggest trauma,
Conjunctivitis-viral, bacterial, allergic, or toxic posterior synechiae of iritis, or and intraocular
Genetics Corneal abrasiontforeign body foreign body.
Most entities are not genetic unless there is an Corneal infection: Bacterial, herpes, varicella, - Inspect the lids for any crusting, lice, or redness of
underlying systemic disorder with genetic influence Iritis-idiopathic, traumatic, or due to systemic the lid margin. Look under the upper and lower
(e.g., iritis due to arthritis) disease Guvenile idiopathic arthritis, sarcoidosis. eyelids for foreign bodies. fine follicles indicating
GENERAL PREVENTION tuberculosis. inflammatory bowel disease, Kawasaki viral infection, and papillaefedema suggesting
Eye protection for any high-risk activity, especially -see chapter) allergic conjunctivitis.
sports involving balls Trauma - Note location of redness and characterize
Excellent hygiene when inserting and removing Contact lens: keratitis, hypoxia, infectious corneal discharge
contact lenses from the eye ulcer. damaged contact lens. etc. - Fluorescein staining of cornea for abrasion,
Not wearing contact lenses while sleeping and ulceration, and dendrites of herpes
COMMONLY ASSOCIATED CONDITIONS -Tonometry
removal immediately upon discomfort Eye pain
Routine follow-up with contact lens provider to -Assess the red reflex. If abnormal, may suggest
Reduced vision if cause is corneal or intraocular globe rupture or hyphema.
check. fit and ocular surface health Photophobia
Screening eye examinations for those at risk of Physical examination
Itchy lids {e.g., allergy, blepharitis) - Preauricular lymph nodes (viral conjunctivitis)
ocular complications {e.g., screen for iritis in juvenile
idiopathic arthritis) - Other signs of trauma (consider child abuse)
Avoid contact with conjunctivitis and if contact
occurs, frequent hand washing
~ DIAGNOSIS -Stiff or tender joints ijuvenile idiopathic arthritis)
-Abdominal tenderness
HISTORY - Other infection in immunosuppression
PATHOPHYSIOLOGY How long has red eye been present (acute vs. DIAGNOSTIC TESTS & INTERPRETATION
Blepharitis-disorder of the Meibomian glands of chronic)
lids leads to suboptimal flow with ocular surface Lab
History of eye trauma (foreign body, traumatic iritis) Bacterial culture of eye discharge if copious
desiccation andfor overgrowth of Staph~ococcus
epidermidis with hypersensitivity reaction of Past ocular history If iritis is suspected:
- Previous eye surgery making the eye more - CBC with differential, ESR, ANA, ACE level
conjunctiva and cornea
susceptible to trauma or infection (sarcoidosis). RPR, serum calcium, and
As the cornea has no blood vessels of its own, when
- Contact lens wearer rheumatoid factor
it becomes infected, the surrounding blood vessels
enlarge and bring immunomodulators to help fight Past medical history-rosacea associated with - Urinalysis
the infection. blepharitis, recent herpes simplex infection, chicken -PPD
pox, underlying malignancy or immunosuppression, - Lyme titers
Infection or inflammation ofthe conjunctiva or
arthritis. inflammatory bowel disease, or fever - See uveitis chapter for further evaluation
episclera results in blood vessel engorgement.
590
RED EYE IN CHILDREN
Imaging SmndUna REFERENCES

If suspecting globe rupture or IntraOOJiar forelg n Systemic antlblotlcs may be needed If perlocula r or
body--CT of orbits orbital Infection 1. Spitzer SG, Luoma J, Naill LP. Isolated
Chest radiograph if suspecting iritis Systemic steroids or immunosuppressive agents may subconjunctival hemorrhages in nonaccidental
be needed in iritis (see chapte~ trauma. 1AAPOS 2005;9:53-56.
DIFFERENTlAL DIAGNOSIS 2. Kuo SC, Shen SC, Chang SW, et al. Corneal
Acute conjunctivitis-viral, bacterial, allergic. or ADDmONAL TREATMENT
I
supe~nfectlon In acute 'ilral con]unctMtls In young
toxic Genetal Measures children. 1 Pedlatr Ophrhalmo/ Sr!ablsmus
Blepharitis Cool compresses are helpful for symptomatic relief 2008;45:374-376.
Subconjunctival hemorrhage Issues for Remrtll
-Consider nonaccidental trauma with bilateral o As appropriate for underlying systemic disease
subconjunctival hemorrhages in infants, especially o To child-protective agency if concern af possible
ADDITIONAL READING
in those with facial petechiae. May be secondary
abuse Greenberg MF, Pollanl ZF. The red eye in childhood.
to asphyxla/strangu latlon or severe chest
compression (1)[C). Additional Therapia Pediatr Clin North Am 2003; 50:105-1 24.
Iritis Baby shampoo eyelash saubs for blepharitis Levin AV. Eye emergendes: Acute management in
Trauma o Warm compresses may also be helpful the pediatric ambulatory setting. Pedfatr Emerg Ca~
o Massage for nasolacrimal duct amtruction (see 1991;7:367-377.
Corneal or intraocular foreign body
chapter on 'Nasolacrimal Duct Obstruction, Adults') Sethuraman R, Kamal D. The red eye: Evaluation
Corneal uIteration or infection and management. Clin Pediatr (Phl1a) 2009;48:
Contact-lens Induced keratitis 588-600.
$ ONGOING CARE Teoh DL, Reynolds S. Diagnosis and management of
TREATMENT pediatric conjunctivitis. Pediatr Emerg Cafll
FOLLOW-UP RECOMMENDATIONS 2003;19:43-55.
Because of high potential for visuaI loss and other
MEDICATION
romplications, serial follow-up for corneal disease
FitstLine and iritis
Blepharitis--consider topical erythromycin ointment o If contact lens related, do not restart contacts untiI
. CODES
Allergic conjunctivitis-topical antihistlmines and seen by provider
mast cell stabilizers ICD9
VIral con]unctlvltls-artlflclal tears for symptomatic l'lltient NlonifDring o 372.30 Conjunctivitis. unspedfied
rei ief; some authors have suggested topical By ophthalmologist for chronic eye disease (e.g., iritis, 373.00 Blepharitis, unspecified
antibiotics, if severe, to preent secondary bacterial herpes si mpies kl!ratitis)
379.93 Red ness or discharge of eye
infection (2)[C]. PATIENT EDUCATION
BacteriaI conjunctivitis-topical antibiotics (see Promote appropriate eye protection for sports
chapter) Baby shampoo eyelash scrubs for blepharitis CLINICAL PEARLS
Corneal infettion
PROGNOSIS Triad af 'red flag' symptoms~ pain, reduced
-Bacterial infiltrate-amsider scraping and culture
o Excellent if appropriate treatment instituted vision, and photophobia-indicate more serious
before treatment with fortified and high-dose
o Depends on etiology ocular involvement.
topical antibiotics (see chapter)
- Herpes simplex dendrite-topicaI and/or systemic o Red eye in a patient who wears contac:t lenses may
COMPUtATIONS
antlvlrals CorneaI disease: perforation, sea~ and amblyopia be corneaI ulceration requ I~ ng urgent care.
- Do not use topicaI steroids o Trauma-blood staining af enmea, amblyopia, optic
Iritis--topical steroids and cydoplegia, treat atrophy, and glaucoma
secondary glaucoma Iritis--glaucoma, cataract, band keratopathy, and
Hyphema-topical steroids and cycloplegic recurrence
glaucoma medication If needed. Eye sh leld and
avoidance of antiplatelet medication to prevent
secondary bleed. (see chapter)
591
REFRACTIVE ERROR (MYOPIA, HYPEROPIA, ASTIGMATISM]
Bruce J. Markovitz
~ BASICS PATHOPHYSIOLOGY Jackson cross cylinder (JCC) test Used to

Most refractive error (between -4.00 and +4.00) subjectively measure the axis and power of the
occurs in eyes with axial length and focal power astigmatic error. A JCC is a spherocylindricallens
DESCRIPTION considered within normal range. Greater refractive with spherical equivalent power of plano.
Refractive error exists when parallel light rays from a error is usually associated with abnormal axial length. Manifest refraction: A dry" refraction performed
distant object do not come to focus on the retina of without drops. More natural state of the eye, but the
an unaccommodating eye. In refractive error the COMMONLY ASSOCIATED CONDITIONS
High myopia: patient can accommodate causing overcorrection of
focusing power of the unaccommodating eye does myopes and under correction of hyperopes. The
not match its axial length. - Down's syndrome
- Stickler's syndrome amount of hyperopia found with a dry refraction is
Myopia: The focusing power is very strong and the the manifest hyperopia.
- Eh lers-Danlos syndrome
image of a distant object is focused in front of the Cycloplegic refraction: A "wet" refraction done with
- Retinopathy of prematurity
retina. cycloplegic drops such as cyclopentolate or
- Marfan's syndrome
Hyperopia: The focusing power (cornea and lens) is -Weill Marchesani syndrome tropicamide which paralyzes the ciliary body
insufficient to bring parallel light rays to focus on the preventing accommodation. Not the nonmal
retina in the unaccommodated eye and the distant
~ DIAGNOSIS
physiologic state of the eye. The additional
object is focused behind the retina. hyperopia uncovered with a wet refraction is the
Astigmatism: The curvature of the corneal surface is "latent hyperopia.
rJ
not spherical. In regular astigmatism one meridian HISTORY
has a maximal curvature while the meridian 90" Symptoms depend on the type and degree of
away has a minimum curvature. (Explain to patients error and patient age. Any refractive error can TREATMENT
as a circle cut from the side of a football compared cause headaches and asthenopia (eye strain).
to the side of a basketball.) In an eye with Specifically: ADDITIONAL TREATMENT
astigmatism, light rays from an object are focused - Myopia: Distance blur, dearer at near. (The higher General Measures
with an amount of power determined by which the myopia the more distance is blurred and the Correcting myopia: A patient with myopia can
meridian of the cornea they pass through. Irregular closer is the near focus.) generally be given the least minus power while still
astigmatism is a pathologic condition most - Hyperopia: Distance is clearer than near. maintaining BCVA. With manifest refraction must be
commonly associated with keratoconus or corneal (Hyperopia can be corrected by accommodation.) careful not to aver minus young myopes who can
scarring where the principal meridians are nat 90" If accommodative amplitude is greater than accommodate and eat minus. Accommodation
apart. degree of hyperopia, distance and near vision may makes an image appear smaller and darker, and may
be clear. In older patients, especially if presbyopic, be erroneously perceived as clearer. With cycloplegic
EPIDEMIOLOGY or high degrees of hyperopia, both distance and refraction -0.25 D can be added to adjust for return
Incidence near are blurred. of ciliary body tone (4)[CJ.
Clinically significant refractive error increases with age. -Astigmatism: Distance and near blur. Correcting hyperopia: A happy patient with
~5% of children 0.5 to 6 years of age need glasses uncorrected hyperopia without complaints of blur,
(1). 50% of the U.S. papulation 20 years and older PHYSICAL EXAM
Distance and near unaided acuity will usually fatigue, or headaches may not yet need correction. If
require correction (2). symptomatic, can generally be given maximum plus
suggest type of error.
Prevalence Improvement with pinhole indicates that decreased power that still maintains BCVA found by manifest
Of the 50% of those aged 20 and older in the USA vision is refractive as opposed to other pathology. refraction. Amount of latent hyperopia to be
requiring correction corrected depends on age, symptoms, and needs. As
Uncorrected hyperopia can be associated with
Myopia 33.1% a rule. up to half of accommodative amplitude can
esotropia (accommodative esotropia), especially
Hyperopia 3.6% be used for extended periods comfortably. As
with high degrees of hyperopia or high ACtA ratio.
Astigmatism 36.2% accommodative amplitude decreases with age more
DIAGNOSTIC TESTS & INTERPRETATION plus will be needed to maintain comfortable vision
RISK FACTORS Diagnostic Procedures/Other even though total amount of hyperopia present
Geneffa Subjective refraction: Using a phoropter or loose remains unchanged. Children with esotropia should
Strong heritability. Up to 90% in twin studies (3) trial lenses various lens combinations are introduced be given full cycloplegic refraction. If reducing plus.
before the eye to determine the prescription giving must reduce plus equally in each eye to keep
GENERAL PREVENTION accommodation balanced.
Many theories have been advanced to suggest best-corrected visual acuity (BCVA). Starting point is
environmental factors involved in myopia development usually the habitual prescription or determined by
and progression from increased reading and near an objective test such as follows:
work to use of children's night-lights. Some suggest - Retinoscopy
accommodative exercise. under-correcting myopes. or -Automated refractor
use of plus lenses for reading. None are generally - Keratometry- measures corneal curvature
accepted. allowing an estimate of the astigmatic error
592
REFRACTIVE ERROR (MYOPIA, HYPEROPIA, ASTIGMATISM)
Correcting astigmatism: Children need fu II PROGNOSIS 3. Lopes MC, Andrew T. Carbonaro F, et al. Estimating
astigmatic correction to prevent amblyopia. They Myopia generally progresses through teenage yea lli heritability and shared environmental effects for
will usually adapt to large amount of new astigmatic and then stabilizes. Later, myopic shift can octur as refractive error in twin and family studies. Invest
correction (5)[C]. Adults are less adaptable. If no nudear sclerosis develops. Ophtha/mo/ Vis Sd 2009; SO126-SO131.
previous cylinder correction has been worn glasses Hyperopia generally lessens through childhood, but 4. Milder B. Pnescribing glasses far myopia.
may be rejected. New oblique cylinder Is espedally hyperopic symptoms can develop as greater near Ophrhalmo/ogy 1979;86(5):706-712.
hard to arupt. If wearing cylinder correction,
diffirulty may be experienced in adapting to
demands are placed on school children and as s. Harvey EM, Dobson V, Clifford-Donaldson CE, et al. R
accommodative amplitude decreases into Optical treatment of amblyopia in astigmatic
lnaeased power or axis change. If reducing cylinder adulthood. children: the sensitive pe~od for successful
power found on refraction in order to increase Astigmatism generally changes less through the treatment. O{ilthalmology 2007;114(12):
dlance of acceptance, the spherical equivalent years. There is a slow increase in with-the-rule 2293-2301.
should be maintained. astlg matlsm In the aging eye.
SURGERY/OTHER PROCEDURES COMPLICAnONS
Laser correction: Lasik and PRK for correcting up to Myopia: & cODES
~10 Dof myopia, 6 Dof hyperopia, and 4 Dof - Retinal detadlment
astigmatism - Posterior vitreous detachment ICD9
Intrastromal corneal rings: Used to correct mild to - Open angle glaucoma 367.0 Hypermetropia
modelllte degrees of myopia to approximately 3 D - Myopic degeneration with d1oroidaI neovascular 367.1 Myopia
and astigmatism up to 1 D. Advantage of being membrane 367.20 Astigmatism, unspedfled
reversible. Hyperopia:
Clear lens extraction and phalcic I015: Alternative to -Amblyopia
laser correction for high degrees of refractive error - Strabismus CLINICAL PEARLS
or thin comeas. - Narrow angle glaucoma
As a rule. for adults, anisometropia over 2.00 DIn
Astigmatism: glasses is not tolerated due to unequaI retina I image
$ ONGOING CARE - Keratomn us size. (Children may tolerate much greater amount.)
-Amblyopia Contact lenses greatly reduce minification and
FOLLOW-UP RECOMMENDAnONS magnification effects allowing large anisometropic
If glasses rejected: corrections such as those needed in monocular
- Verify glasses made to prescription REFERENCES aphakia.
- Check patient and spectade PD 1. Giordano L, Friedman OS, Repka MX, et al.
- Check frame frt looking for vertex distance.
Prevalence of refractive error among preschool
position of optic centers, pantosmpic and face
children In an urban population: the Baltimore
form tilt Pediatric Eye Disease SbJdy. OJI!thalmology
- Double check ref!action especially if prescribed 2009;, 16(4):739-746.
from cydoplegic
- Remake Rx closer to habltuaI 2. Vhale S, Ellweln L. Catch MF, et al. Prevalence of
- Decrease or eliminate cylinder power refractive error in the United States, 1999-2004.
- Rotate axis closer to habibJal or toward 9011 80 Arrh Ophthalmol 2008;126{8):111 1-1 119.
593
REIS-BUCKLERS CORNEAL DYSTROPHY
Mark M Fernandez
Terry Kim
~ BASICS
See "Description" and "Pathophysiology." Lab
COMMONLY ASSOCIATED CONDITIONS Genetic testing for known BIGH3 mutations including
DESCRIPTION Arg 1241eu and Gly23asp, in combination with
RBCD has no known systemic associations. Other
An autosomal dominant dystrophy of Bowman's conditions resulting in mutations of the BIGH3 gene pedigree analysis, supports the diagnosis of
layer (C DB) of the cornea; Reis-Bucklers (RBCD) or include Thiel-Behnke dystrophy {CDB-2), lattice Reis-Bucklers dystrophy. Electron microscopy is also
CDB-1 is linked to the BIGH3 gene on chromosome dystrophy, and Avellino dystrophy. diagnostic {see below).
5q31 (1)[B]. It is associated with specific mutations Imaging
of the TGFBI protein: Arg1241eu 2 and, less typically,
Gly23asp. ~ DIAGNOSIS The appearance of RBCDusing in vivo confocal
imaging has been characterized {3)[8]; however, this
Alternate names: Corneal dystrophy of Bowman's HISTORY is not a commonly utilized modality for diagnosis.
layer type 1 (CDB-1) and granular dystrophy type Ill. Family history of early onset ocular surface disease Pathological Findings
Pediatric Considerations or known mutation in the BIGH3 gene.
Onset of symptoms is typically at 4-5 years of age and Recurrent epithelial erosions which last from days to Masson's trichrome stain of histopathologic
weeks during childhood; patients experience specimens shows red deposits in the anterior cornea
may include photophobia, eye rubbing, tearing, or
symptomatic improvement in pain by young with disruption of Bowman's layer (1)[B].
other signs of ocular surface discomfort.
adulthood with decreased vision due to superficial Transmission electron microscopy (TEM) of
EPIDEMIOLOGY stromal scarring. specimens in RBCD shows lamellated deposits
lnddence During acute attacks, symptoms include pain, parallel to collagen fibers in the anterior cornea.
The incidence of Reis-Buclders corneal dystrophy hyperemia, and photophobia. TEM is required to distinguish RBCD, or CDB-1, from
(RBCD) is rare, with most cases occurring in families Thiel-Behnke corneal dystrophy, or CDB-2. In
with a known mutation in chromosome 5q31. The PHYSICAL EXAM contrast to RBCD, corneas with Thiel-Behnke
exact incidence and prevalence are unknown. Slit lamp biomicroscopy reveals multiple bilateral, dystrophy show arcuate, rounded fibers termed
central, reticular, honeycomb-shaped opacities " curly fibers" {4)[B[. The slit lamp biomicroscopic
RISK FACTORS appearances of CDB-1 and CDB-2 can be
Patients with specific mutations of TG Fl are at risk. of within Bowman's layer early in life. As patients
reach adulthood, gray-white opacities become indistinguishable.
RBCD. This is an inheritable condition.
interspersed and the anterior corneal surface DIFFERENTIAL DIAGNOSIS
Genetics becomes irregular {2)[B]. Thiel-Behnke corneal dystrophy (CDB-2)
As in Description above; autosomal dominant
The cornea's appearance by broad-beam Granular corneal dystrophy
GENERAL PREVENTION illumination is said to resemble "curdled milk. Epithelial basement membrane dystrophy
No method of prevention exists; therapy is supportive The corneal appearance by optical cross section lattice dystrophy
and targeted at reducing ocular surface disease. shows fibrillar projections from Bowman's layer into Meesmann's corneal dystrophy
PATHOPHYSIOLOGY the epithelium. Subepithelial mucinous corneal dystrophy
Superficial ring-shaped deposits in the central cornea Retroillumination of the cornea reveals a frosted Herpetic keratitis
are composed of fibrocellular material which is further glass appearance.
composed of mutated transforming growth factor-beta
induced protein. These localize to Bowman's layer.
Recurrent erosions lead to stromal scarring by young
adulthood.
594
REIS-BUCKLERS CORNEAL DYSTROPHY
3. Kobayashi A, Sugiyama K. In vivo laser mnfocal

. TREATMENT ONGOING CARE mlaoscopy findings for Bowman's layer dystrophies
(lhlei-Beh nke and Rels-Buclders comeal
MEDICATION FOLLOW-UP RECOMMENDATIONS dystrophies). O{ilthalmology 2007;114:69-75.
Lubrication (artificial tears. lubricating ointments Patient Monitoring 4. Dighiero, et al. His!Diogical phenotype-genotype
applied 3-6 times per day) [B). o Patients should be monitored closely during correlation of corneaI dystrophies assodated with
episodes of recurrent erosion to avoid microbiaI eight distinct mutations in the TGFBI gene. R
ulcers and control pain. Ophthalmology 2001;1 08:818-823.
General Meuures o Patients should also be monitored for decreased 5. Dinh R, et al. RecuiTence of corneal dystrophy after
vision due to the corneal opacities, irregular surface. exdmer laser phototherapeutic keratectomy.
Bandage contact lenses may be utilized for
and stromal scarring. Ophthalmology t 999;1 06: 149D-1497.
symptomatic relief of epithelial eroslons [B).
PROGNOSIS 6. Miller A, et al. Prevention of recurrent Reis-Budders
TopicaI antibiotic prophylaxis (during episodes of dystrophy following extimer laser phototherapeutic
epitheIial erosioos) The naturaI history of RBCD Involves recurrent corneal
erosions starting at the 4th year of life with scarring keratectomy with topical mltornycln-C. CDIIIH
Topical corticosteroid medication (to avoid or 2004;23:732-735.
minimize corneal scarring) and decreased vision that continues to progress in the
2nd, 3rd, and 4th decades. RBCD recurs quickly in
ISsues for Referral penetrating kera!Dplasty (averaging 2 years in one
Stromal scarrlng with poor visual aculty or perslstem study) as well as in PTK. Bestcorrected visual acuity is . CODES
surface disease can be addressed by a corneal limited by corneal scan1ng.
specialist using the surgical options below. ICD9
COMPUCATlONS
SURGERY/OTHER PROCEDURES 371.52 Other anterior mmeal dystrophies
o MicrobiaI imection: Monitor patients dosely during
Phototherapeutlc keratectomy (PH) treats episodes of corneal erosion and consider

superfldal scarring and anterior surface Irregularlty antimiuobial prophylaxis. CLINICAL PEARLS
[B[. Recurrence of deposits has been reported at Cornea1scarrl ng: Monitor patients for scarring and
58% (S)[B[. Intraoperative administrcrtion of consider topical corticosteroids as treatmem. RBCD or CDB1 is distinguished from ThieiBehnke,
mitomydnC has been proposed as a way to slow or CDB2 by its appearance on electron microscopy.
the recurrence of TG FBI deposition, with Both coodltlons are associated with mutations of
encouraging results 1 year after surgery (6)[8).
REFERENCES BIGH3; however, CDB1 is associated with
arg1231eu while CDB2 is associi!led with
EpitheliaI debridement or superficial keratectomy 1. Klintworth GK. Corneal dystrophies. Orphanet J arg555gln. ThieiBehnlce corneal dystrophy typically
can be utilized when exdmer laser PTK is Rare Dis 2009;4:7 has a later onset and a lower rate of recurrence
unavaiIable [B [. 2. Rice NSC, et al. ReisBudders' dystrophy: A following penetrating keratoplasty or
Deep lamellar kercrtoplasty or penetrating clinico-pathological study. Br J O{ilthalmol phototherapeutic kercrtectomy.
keratoplasty are infrequently indicated. The rate of 1968;52:577~03.
RBC Dis a disease of the amerior cornea, specifically
recurrence Is estimated at 17.5% at 5 years In
Bowman's layer that can result in decreased vision
corneal dystrophies of Bowman's layer, which
due to the corneal opacities, irregular surface. and
includes RBCD [B[.
stromal scarring.
RBC Dhas a high rate of recurrence followlng
penetrating keratoplasty and photothetapeutic
kercrtoplasty.
595
REITER'S SYNDROME [REACTIVE ARTHRITIS]
Allen Chiang
The pathogenesis involves an exaggerated immune
response to bacterial antigens.
PHYSICAL EXAM
Asymmetric, acute oligoarthritis affecting large joints
Periostitis
DESCRIPTION Post-urogenital ReA: Sacroiliitis
Reiter's syndrome, also referred to as reactive Mucocutaneous lesions:
-Chlamydia takes on a "persistent state" within
arthritis (ReA), is a rheumatoid factor (RF) - Circinate balanitis, cervicitis, or painless oral ulcers
seronegative spondyloarthropathy witll associated host tissues. an alternative life cycle that avoids
host immune response (3)[8]. Keratoderma blennorrhagicum
ocular inflammation that is precipitated by
genitourinary or gastrointestinal infections. - Interferon (IFN)-y concentration is lower in DIAGNOSTIC TESTS & INTERPRETATION
- Classic triad of sterile arthritis, urethritis, and HLA-827-positive patients, contributing to Lab
conjunctivitis persistence of infected cells which act as depots CBC
stimulating sustained inflammation.
EPIDEMIOLOGY Erythrocyte sedimentation rate
Post-enteric ReA: C-reactive protein
It is the most common inflammatory polyarthritis in
- Degraded particles of tile bacterial envelope alone
young men. Urethra, cervix, or throat cultures
may persist in host tissues. creating long-lasting
Incidence is about 3.5 cases per 100,000 per year. immune response. Chlamydia PC R
- Epidemiologic studies differ in reported prevalence HIV
and incidence rates of causative agents, perflaps ETIOLOGY HLA-827 genetic marker
due to true epidemiologic variation, selection bias. An immunologic response to an infectious organism in
Imaging
or sampling errors (1)[8]. an individual with genetic predisposition (~75% are
MRl of large joints
HLA-827-positive) (4)]8]
Frequency of HLA-827 in ReA is 7D-90% (of the Diagnostic Procedures/Other
seronegative spondyloarthropathies, only antylosing COMMONLY ASSOCIATED CONDITIONS Synovial joint fluid aspiration (classically culture
spondylitis has a higher frequency of HLA-827 See General Prevention: negative)
positivity).
RISK FACTORS
HLA-827
~ DIAGNOSIS DIFFERENTIAL DIAGNOSIS
Ankylosing spondylitis
Inflammatory bowel disease-associated arthritis
HIV: Ophthalmic manifestations (60%) (5)[8]: Psoriatic arthritis
- Prevalence of reactive arthritis may be significantly - Conjunctivitis (a feature of early disease) Gonococcal arthritis
increased in those with HIV; in sub-Saharan Africa Lyme disease
it is 12 times higher (2)[8]. - Non-granulomatous anterior uveitis (NGAU) in
20-40%; typically unilateral (7% bilateral) (3)]8] Systemic lupus erythematosus
GENERAL PREVENTION Rheumatoid arthritis
Measures to prevent genital and sexually - Keratitis (4%)
- Cystoid macular edema (rare) Juvenile rheumatoid arthritis (Still's disease)
transmitted disease: Gouty arthritis
- Multifocal choroiditis (rare)
- Chlamydia is tile most common cause of reactive
arthritis in Western countries (42--9%) (3)[8]. HISTORY
Symptoms generally appear within 1-3 weeks from
Measures to prevent gastrointestinal infection: the inciting genitourinary or gastrointestinal
- Enteric bacteria such as shigella, salmonella,
infection:
campylobacter, and Ureap/asma urea/yticum are - Mild constitutional symptoms such as low-grade
common pathogens worldwide.
fever and malaise
- Urogenital: Dysuria, frequency, discharge
- Musculoskeletal: Myalgias (early), swelling and
pain of the large joints
-Ophthalmic: Decreased vision, pain, injection,
photophobia
596
REITER'S SYNDROME (REACTIVE ARTIIRITIS)
PROGNOSIS 5. Lee DA, Barb!r SM, Su WPD, et al. The clinical

. TREATMENT Recurrent NGAU may lead to vision loss If not diagnosis of Reiter's syndrome: Ophthalmic and
properly monitored and treated. non-ophthalmic aspectS. Ofitrha/mology
MEDICATION Reactive arthritis may be self-limited, episodic and 1966;93:35(}-356.
RrstLine relapsing, or chronic and progressive (2)[8].
If still present, treat the indting infection with
- Self-!imited fomn resolves over 3-12 months.. ADDITlONAL READING
I
appropriate antibiotic therapy.
- 15-50% of patients develop recurrent bouts of
Topical uveitis treatment: arthritis (more common In Chlamydia-associated Brc~un J, Sieper J. Eariy diagnosis of spondyloarthritis.
-Prednisolone aCI!tatl! 1%, 1 drop q1-2 hours cases). Nift Clin Pract Rheumatol 2006;2(1D): 536--545.
(slow taper over severaI weeks) - 15-30% develop chronic arthritis.
-Scopolamine hydrobromide 0.25% (or similar - 1D% of those with chronic disease develop
cycloplegic agent) 1 drop b.l.d.-t.l.d. cardiac complications such as aortic regurgitation . CODES
NSA!Ds: Indomethacin SR 75 mg PO b.i.d.-t.i.d. and pe~card ltls.
SecondUne COMPUCATIONS ICD9
Disease-modifying antirheumalic drugs (DMARDs) Vision loss 099.3 (Reiter's syndrome); use additional codes for
for chronic arthlitis associated manifestations:
Chronic arthritis -Reiter's disease
- Sulfasalazlne 1 gPO b.l.d.-t.l.d.
o Cardiac manifestations
- Or.ll corticosteroids o 364.3 Unspecified iridocyclitis
- Methatrexate 7. 5-15 mg PO per week. o 372.33 Conjunctivitis in mucocutaneous disease
- Azathioprine 1OD-1 SO mg PO daily REFERENCES
-Biologics (antiTNF agents) such as infliximab
(Remicade) and adalimumab (Humira) (1)[C) 1. Colmegna I, Espinoza LR. Recent advances in CLINICAL PEARLS
reactive arthritis. Curr Rheumatol Rep 2005;
7(3):201-207. Reiter's syndrome, or reactive arth~tls (ReA),
$ ONGOING CARE 2. Khan MA. Update on spondyloarthropathles. Ann
comprises sterile arthritis. urethritis, and
conjunctivitis. It is uncommon for all features of the
FOLlOW-UP RECOM MENDA110NS lntem Med 2002;136(12):8%-907. classic triad to be simultaneously present.
OphthaImolog1st 3. Gerard HC, Wh il1llmHudson JA. Carter JD, et al. o Chlamydia is the most common etiologic agent of
Rheumatology consultation The pathogenic role of Ch/amydia in
ReA in Western countries.
Primary care physician spondytoarth ~tis. Curr Opln Rheumatol 201 0;22(4):
363-367. Conjunctivitis is an early feature that may be missed
Physical therapist if patients present later; uveitis is the more serious
4. lay-Kearney ML. Schwam BL. Lowder C, et al. ocular rna nifestation and requires continued
PA11ENT EDUCATION Clinical features and assodated systemic diseases
The Spondylitis Association of America follow-up.
of HLAB27 uveitis.AmJ Ofitlha/mo/1996;121:
(http://www.spondytitis.org) 47-56.
597
RElATIVE AFFERENT PUPILlARY DEFECT [RAPD]
Stephen Best
~ BASICS
Decreased amount of light transmitted along one Patient asked to distance fixate preferably in dim
side of the anterior visual pathway ambient light conditions
DESCRIPTION Pathology resulting in loss of function within the A bight light source is directed at the right eye
Different response of one pupil compared with the afferent visual pathway, which may include the The direct ipsilateral pupillary response is observed
contralateral pupil when stimulated by a bright light. retina, optic nerve head, optic nerve, chiasm, and (pupi I should constrict)
It is a sign that can be seen in a large variety of the anterior optic tract proximal to the lateral The consensual contralateral pupillary response in
disease entities. geniculate body the left eye is observed (pupil should also constrict)
Previously known as the Marcus--<iunn pupillary - Media opacity within the eye such as cataract will The light is now directed at the left eye (swinging
phenomenon. not cause an RAPD. Dense, extensive anterior flashlight test), and both the direct and consensual
Geriatric Considerations chamber or vitreous hemorrhage produce RAPD pupillary reflexes are observed.
Cataract (commonly seen in geriatric patients) does ETIOLOGY When an RAPD is present the pupil on the affected
not cause a relative afferent pupillary defect (RAPD). Optic neuropathy of any etiology if unilateral or side will dilate more (pupillary escape)
Pediatric Considerations asymmetric -Subjective grading by the examiner often ranging
Absolute indication of pathology involving the afferent Extensive retinal involvement from multiple causes from "trace " or ,through+1 to +4
- Objective measurement using a neutral density
visual pathway especially in preverbal patients COMMONLY ASSOCIATED CONDITIONS filter to quantitate
Pregnancy Considerations Demyelinating disease (multiple sclerosis) - Subjective impression of brightness differential
Meningiomas and pituitary tumors occur or increase in Hypertension can be asked of the patient
size with increased frequency during pregnancy Diabetes -Advanced objective measurements with
resulting in RAPD Giant cell arteritis pupillometry devices but less often used clinically
EPIDEMIOLOGY Optic nerve/chiasma! compression
Nonarteritic anterior isclhemic optic neuropathy
Incidence (NAION)
Not applicable
~ DIAGNOSIS
Prevalence
Relates to the prevalence of afferent visual system
disease in the particular population
HISTORY
RISK FACTORS Unilateral vision loss
Depends on underlying pathology Unilateral loss of brightness
Genetia Unilateral loss of color perception or desaturation of
Most inherited retinal conditions are less likely to color
cause an RAPD unless there exists considerable - Pain associated with eye movement in optic
asymmetry of involvement of one eye compared neuritis
with the other. -Various visual field defects
Mitochondrial disease such as Leber's hereditary
optic neuropathy may present asymmetrically or
with one eye involved prior to the contralateral eye.
598
RELATIVE AFFERENT PUPILLARY DEFECT (RAPD)
DIAGNOSTIC TESTS & INTERPRETATION Pathological Findings REFERENCES

Imaging Depends on undertying pathology
lnitialapproadl 1. Levatin P. Pupillary escape in disease of the retina
DIFFERENTlAL DIAGNOSIS or optic nerve. Arch Op/rlha/mo/1959;62:
An RAPD infers objective evidence of pathology of Retinal disorders
the anterior visuaI pathways. If there is no 768-779.
Optic neuropathy 2. Danesh-Meyer HV, Papdlenko TL, Savino PJ, etal.
explanation from the ophthalmic examination,
Ch iasmal disease B~ghtness sensi!Mty and color perception as
I
neuroimaging is mandatory.
Optic tract lesions predictors of relative afferent pupillary defec:t.
MRI with fat suppression and gadolinium of the
orbits and brain is considered the minimum work-up. Invest Of}lthalmol VisSd 2007;48:3616-3621.
Follow-up 8: special considerations . TREATMENT
Exclude other assodated intracranial abnormalities
such as demyelinating plaques MEDICATION . CODES
- Adequate consultation with neuroradlology Is Depends on the underlying pathology
highly recommended. ICD9
ADDITIONAL TREATMENT 379.23 Vrtreous hemorrhage
Diagnostic l'l'oc.Hu,.s/Other 1ssws for Referral 379.49 Other anomalies of pupillary function
Automated visual fleld analysis of both eyes look!ng Refer to neuroophthalmology If the cause or treatment
for topographical patterns of vision loss 742.B Other spedfied congen itaI anama lies of
of the cause is in doubt netVOus system
Com ple!E ophthalmic examination induding
measurement of intraocular pressure and dilated
retina I examination ONGOING CARE
- cBC count with ESR and CRP in patients older CLINICAL PEARLS
than 60 years or if other symptoms or signs of Depends on under1ying pathology An RAPD Is a "red flag objective Indication of
giant cell arteritis (GCA) pathology involving the afferent visual pathway that
requires explanation!
Cataract alone will not cause an RAPD.
599
RmNA COATS' DISEASE
Jerry A. Shields
Carol L. Shields
~ BASICS
None in true unilateral Coats' disease Lab
In cases of bilateral exudative retinopathy that Initial lab tests
DESCRIPTION resemble Coats' disease (but not true Coats' No lab abnormalities except in older patients. check
Nonhereditary condition disease), one must consider a list of systemic blood cholesterol, and lipids.
Unilateral conditions including IRVAN syndrome, familial Follow-up & special considerations
Retinal telangiectasia exudative vitreoretinopathy, dyskeratosis congenital, If bilateral involvement, evaluate patient for related
Retinal exudation retinopathy of prematurity, facioscapulohumeral syndromes as previously mentioned.
Exudative retinal detachment dystrophy, turner syndrome, incontinentia pigmenti, Treat all leaking telangiectasia
Classification proposed by Shields et al: neurofibromatosis, kabuki makeup syndrome, and
others. Imaging
- Stage 1. Retinal telangiectasia {T)
Initial approadl
- Stage 2. T+ and exudation (E)
- Stage 3. T+ E+ subretinal fluid (F)
- Stage 4. T+ E+ F+ neovascular glaucoma (G)
~ DIAGNOSIS Fundus photography to document the retinal
findings.
- Stage 5. T+ E+ F+ G + phthisis bulbi HISTORY Ocular ultrasonography to confirm retinal
Blurred vision detachment.
ALERT Yellow or white pupillary reflex Fluorescein angiography to identify leaking
Any child with an abnormal pupillary reflex should telangiectasia.
Strabismus
have a fundus examination to rule out Coats' Optical coherence tomography to study the macular
disease. PHYSICAL EXAM region for edema or fluid.
The following data is based on an analysis in 150 Follow-up & special considerations
Geriatric Considerations consecutive cases by Shields et al. Repeat fundus photography at each visit.
Coats' disease occurs almost exclusively in young Symptoms include Repeat fluorescein angiography if subretinal fluid or
patients under the age of 10 years. It is rare to - Decreased visual acuity in 43% exudation detected.
diagnose this condition in the elderly. - Strabismus in 23%
Repeat optical coherence tomography for macular
- leukocoria in 20%
Pediatric Considerations findings.
-Pain in 3%
Coats' disease occurs primarily in children at - Heterochromia in 1% Diagnostic PI'Ocedures/Other
approximately of 2-1 1years of age and rarely is - Nystagmus in 1% Pathological Findings
related to systemic conditions. - No symptoms in 8% Peripheral retinal telangiectasia
EPIDEMIOLOGY Findings include Retinal detachment
Unknown -Telangiectasia in 100% Retinal and subretinal exudation
- Retinal exudation in 99% Cholesterol clefts in subretinal space
RISK FACTORS -Exudative retinal detachment in 81% Advanced cases show neovascular glaucoma
None. - Retinal hemorrhage in 13%
Genetics - Retinal macrocyst in 11% DIFFERENTIAL DIAGNOSIS
No proven genetic defect. - Vasoproliferative tumor in 6% Retinoblastoma
- Neovascularization of disc in 2% Retinal hemangioblastoma
PATHOPHYSIOLOGY - Neovascularization of retina in 1% Retinal vasoproliferative tumor
Idiopathic congenital retinal telangiectasia. - Neovascularization of iris in 8% Persistent hyperplastic primary vitreous
Affects temporal retina most often but can be - Corneal edema in 3% Rhegmatogenous retinal detachment
360 degrees in the fundus. -Anterior chamber cholesterol in 3%
Progressive retinal and subretinal exudation.
Hypertensive crisis
Exudative retinal detachment
600
RETINA COATS' DISEASE
o AIII!Xaminations are best performed under ADDITIONAL READING

. TREATMENT anesthesia, espedally If the child Is under 4 years of
age. Shields JA. Shields Cl, Honavar S, et al. Coats'
MEDICATION When 4 years old or older, office exams can be disease. Clinical variations and complications a!
RrstLine mnsidered. Coats' disease in 150 cases. The 2000 Sanford
Management depends on stage of disease. Gifford Memo~aI Lecture. Am J. Ophtilalmol
Patient MOtJitorlng
No medication necessal'l Chedc retina status longterm twice yearly for life. 2001;131:561-71. R
Laser photxxoagulation Shields JA. Shields CL, Honavar SG, et al.
Return for examination Ifvisual acully deaeases.
Classification and management of Coats' disease.
Cryotherapy PATIENT EDUCATION The 2000 Proctor lecture. Am 1 OphtilalmaJ
SecondUne o www.figlrteyecancer.com 2001;131 :572-U
lntravltreal bevadzumab o www.eyecancer. info Shields JA. Shields CL. Lesions that can simulate
lntravitreal triamdnolone www.eyetumor.org retinoblastoma. In: Shields JA, Shields CL (eds).
Subll!nonstriamcinolone www.eyecancerbook.com Intraocular tumors, an atlas and t&tbook, 2nd ed.
Antiglaucoma medications if neCI!SSary www.etrf.org Philadelphia: Lippincott, Williams and Wilkins,
o www.choroidmelanoma.mm
2008:364-365.
General Measures PROGNOSIS
Laser photxxoagulation The systemic prognosis Is unaffected by this . CODES
Cryotherapy ophthalmic condition.
wuas for Rafamll The visual prognosis with stage of disease, based on ICD9
Any child with suspected Coats' disease should be an ana lysis of 1SO consecutive eyes. Below is the 361.2 Serous retinal detachment
referred for management by a qualified spedallst. risk for poor visual outcome of 20/200 or worse: 362.12 Exudative retinopathy
-Stage 1 -0% 362.15 Retinalll!langiect.asia
Additiollal Thetapies - Stage 2 -50%
MediCi!I treatment for secondary glaucoma - Stage 3 - 70%
Cataract extraction if necessary -Stage 4-100%
Vrtrectomy with repair retinal det.adlment -Stage 5-100%
CLINICAL PEARLS
o Coats' disease can simulate retinoblastoma
COMPUCATlONS
ONGOING CARE Retinal detachment Typical features can assist in diagnosis
Cataract VIsual prog nosls good If dlscovered early before
FOLLOW-UP RECOM MENDA110NS Chronic pain macular exudation.
The patient should be reassessed every 2-4 months Phthisis bulbi
following treatment.
At eadl reassessment, a judgment on the status of
the retina will be made and the need for further
treatment. In general, this cond ilion requires at least
3 extensive treatments to quiet the leakage.
601
RmNA RETINOBLASTOMA
Carol L. Shields
Jerry A. Shields
Prevalence
Retinoblastoma develops in 5,000 children worldwide
and 300 children in the USA annually.
DESCRIPTION HISTORY
Eye cancer of children RISK FACTORS The infant or toddler gives no history
There is no known cause for Rb1 mutation. The parent might note leukocoria or strabismus
Tends to manifest between 6 months and 3 years of
age Genetia PHYSICAL EXAM
Accounts for 4% of all childhood malignancies In 1971, Knudson 2hit" hypothesis for the
The most common sign is the white pupil
Can occur in one (unilateral) or both (bilateral) eyes development of retinoblastoma was proposed. (leukocoria) in an otherwise quiet comfortable eye.
Can have a sporadic or familial tendency In 1980, research confirmed that both alleles of
The second most common sign is crossed eye
retinoblastoma gene (RB1) at chromosome 13q14 (strabismus) where the eye drifts inward or outward.
Can be germline or somatic mutation
locus were mutated in retinoblastoma.
Appears as a white mass within the retina, best Red eye
seen on dilated eye examination Currently, there are arguments that genomic
Bulging eye
instability and aneuploidy are likely responsible for
In more advanced stages can present with white the genesis of Rb. Droopy eyelid (ptosis)
pupil (leulcocoria), red eye, or glaucoma
GENERAL PREVENTION DIAGNOSTIC TESTS & INTERPRETATION
International Classification of Retinoblastoma (RB)
includes For patients with known germline mutations, there Lab
-Group A-RB <3 mm are several methods of prevention, including the Complete blood count
- Group B- RB > 3 mm or in the macula or with following: Imaging
clear subretinal fluid -Avoid having children. Initial approach
- Group C- RB with subretinal or vitreous seeds - Use donor germ cells to avoid transmission of the Ultrasonography to confirm the mass, retinal
<3 mm from tumor genetic defect. detachment. and calcification
- Group D- RB with subretinal or vitreous seeds - In vitro fertilization with preimplantation genetic Fundus photography to document tumor size and
>3 mm from tumor sampling at the 8-cell morula stage for the Rb location
-Group E- extensive RB fill >50% globe or with gene can identify affected individuals. Those not
Intravenous fluorescein angiography to document
hemorrhage or iris neovascularization affected can be implanted.
blood supply to the tumors
For patients with somatic mutations, the defect does
ALERT Brain and orbit magnetic resonance Imaging to rule
not transmit to future generations but it is important
Any child with leukocoria (white pupil) or out extraocular spread and rule out pinealoblastoma
to examine the eyes of all children within 2 weeks
strabismus (drifting eye) should have a dilated from birth. Follow-up 1ft special considerations
examination by a qualified ophthalmologist to Monitor monthly for tumor regression then slowly
PATHOPHYSIOLOGY increase the interval between visits if all malignancy
evaluate for fundus abnormalities, particularly Some authorities believe that retinoblastoma develops
malignancies such as retinoblastoma. stable.
from an undifferentiated cell or a retinal progenitor
cell whereas others believe that a fully differentiated Diagnostic Procedures/Other
Geriatric Considerations horizontal cell ofthe retina is the cell of origin. Do not perform fine needle aspiration biopsy as this
The intraocular scar from this malignancy should be could seed the tumor.
followed for life. More important consideration in the ETIOLOGY
older population with retinoblastoma is the risk. for The etiology for retinoblastoma is a genetic mutation
Gross findings:
second cancers in those with germline mutation. on chromosome 13q 14 in all cells in the body in
- Chalky white friable tumor
germ line retinoblastoma and in only the tumor in
Pediatric Considerations - Dense foci of calcification
somatic retinoblastoma.
Retinoblastoma nearly always manifests in children, - Retinal detachment
COMMONLY ASSOCIATED CONDITIONS - Scleral, optic nerve, or epibulbar invasion
usually those under age 3 years.
13q syndrome: Microscopic findings:
Pregnancy Considerations -This syndrome is related to the phenotypic - Small to medium sized round neuroblastic cells
If a pregnant woman has a family history of abnormalities from the mutated portion of with large hyperchromatic nuclei and scanty
retinoblastoma, then the fetus should be imaged with chromosome 13. cytoplasm
ultrasonography at 8-month gestation in utero to - Features include microcephaly, broad nasal bridge, -Well or poorly differentiated cells
evaluate the eyes. If retinoblastoma is detected, then hypertelorism, microphthalmos, epicanthus, -Growth patterns:
early but safe delivery can be considered. ptosis, micrognathia, short neck, low set ears, o Exophytic- growth underneath the retina
facial asymmetry, anogenital malformations, o Endophytic- growth superficial to the retina in
EPIDEMIOLOGY hypoplastic thumbs and toes, mental and the vitreous
Incidence psychomotor retardation. o lntraretinal - growth within the retina
1/15,000 newborn infants o Diffuse- flat infiltration
602
RETINA RETINOBLASTOMA
DIFFERENTlAL DIAGNOSIS Shields CL. Au A. Czyz C, e1 al. The Intemational

Coats disease ONGOING CARE Classification of Retinoblastoma predicts
Persistent hyperplastic primary vitreous chemoreductlon success. Ophlhalmo/ogy
Retinal astrocytic hamartoma FOLLOW-UP RECOMMENDATIONS 2006;113(12):2276-2280.
o If germ line mutation, then mag resonance imaging Shields CL. Honavar SG Meadows AT, et al.
Retinal astrocytDma
of the eye and brain to rule out pinealoblastoma or Chemoreduction plus focal therapy for
Combined hamartoma of the retina and retinal
pigment epithelium
related brain tumor and lifelong follow-up for
second malignancies
retinoblastoma: Factors predictive of need for R
Retinal detachment treatment with external beam radiotherapy or
o If somatic or germ line mutation: enucleation. Am 1 Ophthalmo/ 2002;133:657-664.
FamiIial exudative vitreoreti nopathy - Fundus examination with treatment every month Shields CL. Shields JA. Basic understanding in the
Cataract until the retinoblastoma is completely regressed current classification and management of
Glaumma and stable for 3 months; then slow~ inaease the retinoblastoma. Curr Opin Ophtha/mo/2006; 17(3):
interval of the follow-up to every 2 months, then 228-234.
every 3 months. and so on. Shields JA. Shields Cl. Management and prognosis
TREATMENT
l'atient NlonifDring af retinoblastoma. Intraocular tumcNs: A text and
MEDICATION Examination under anesthesia until age 4 years for the atlas. Philadelphia: WB Saunders 1992:377-392.
Intravenous chemoreduction consisting of eyes, and evaluation by pediatric or adult oncology for Shields JA. Shields CL. Retinoblastoma. In: Shields
Illncrlstlne, carboplat!n, and etoposide followed by life. JA. Shields Cl, eds. Atlas of intraocular tumotS.
thermotherapy or cryotherapy Ph lladelphla: Lippincott Williams Wllldns
PATIENT EDUCATION
Intraarterial chemotherapy with melphalan o 'NWW.fighteyecancer.com
1999:207-232.
ADDITIONAL TREATMENT o 'NWW.eyecancer.info
Shields CL. Shields JA, Cater I, et al. Plaque
radiotherapy for retinoblastoma: Long term tumor
General MftsUI'eS o 'NWW.eyetumor.info
control and treatment complications in 208 tumors.
If group A, treat with laser photocoagulation or o 'NWW.eyecancerboolc.com
Ophthalmology 2001 ;1 08:21 16-2121.
cryotherapy o 'NWW.eyeretlnoblastoma .com
Toma NM, Hungerford JL. Plowman PN, et aI.
If group 8, treat with chemoreduction or plaque o 'NWW.retinoblastomainfo.com External beam radiotherapy for retinoblastoma: 11.
radiotherapy o 'NWW.etrf.org Lens sparing technique. Br J Ophthalmol
If group c. treat with chemoreduction 1995;79:112-1 17.
PROGNOSIS
If group Dor E, treat with chemoreduction or
In developed muntries, prognosis has improved
enucleation
from 5% survtvaI In the early 1900s to 50% In the
Note that intraarterial chemotherapy can be 1930s to 98% currently. . CODES
substituted for intmenous chemoreduction in
o In undeveloped muntries prognosis currently
certain select cases. ICD9
remains approximately SO% survival, lik!!ly related
Issues for Refetral to delay in diagnosis. 190.5 Malignant neoplasm of retina
All children with retinoblastoma should be referred to
and managed at retinoblastoma centers of excellence. COMPUCATIONS
There are perhaps only 6 such centers in the USA. o VIsion loss CLINICAL PEARLS
o Loss of the eye
SURGERY/OTHER PROCEDURES o Dry eye Any child with leukllcoria or strabismus should be
Enucleation for advanced tumors or massive tumor evaluated by an experiented ophthalmologist
o Retinal atrophy
recurrence familiar with retinoblastoma.
o Retinal detachment
Plaque radiotherapy for smaller tumors or tumor Chemotherapy has bealme the most com man
o Glaucoma
reamence method for management.
o Cataract
External beam radiotherapy Enucleation Is still a powerful method of tumor
o FadaI deformity
control and life salvage.
IN-PATIENT CONSIDERATIONS o Second canters
Ophthalmic treatment is outpatient.
ADDITIONAL READING
o Hungerford JL, Toma NM, Plowman PN, et al.
External beam rad lotherapy for retinoblastoma: I.
Whole eye technique. Br1 Ophtha/md 1995;79:
109-111.
o Kivela T. Trilateral retinoblastoma: A meta-analysis
of hereditary retinoblastoma assodated with
p~ mary ectopic lntraaa nlaI retinoblastoma. I Gin
Onco/ 1999;17:1829-1837.
o Roarty JD, Mclean IW, Zimmerman LE. Incidence of
second neoplasms in patients with retinoblastoma.
Oph tha/mology 1988; 95:1583-1587.
603
RmNALBREAK
Caroline Baumal

Myopia ~ DIAGNOSIS
Increased age
DESCRIPTION HISTORY
Lattice degeneration
A full thickness defect in the neurosensory retina. Symptoms of PVD with attention to photopsia,
PVD floaters, visual field disturbance, reduced visual
May be round/oval (retinal hole), horseshoe shaped
History of intraocular surgery, including cataract acuity
(retinal tear). irregularly shaped or semicircular/ surgery
adjacent to the ora serrata (dialysis). Family history
Trauma Prior eye trauma
Location usually in peripheral retina, although may
History of retina break or RRD in the contralateral Myopia
occur anywhere.
eye
A retinal break. may allow vitreous fluid to pass History of intraocular surgery, including cataract
Family history surgery
through the break into the subretinal space leading
to rhegmatogenous retinal detachment (RRD) with Stickler syndrome
PHYSICAL EXAM
potential for severe visual loss. Genetia Examination of the peripheral retinal with scleral
The etiology, underlying risk factors and shape of Genetic syndromes that predispose to myopia or depression and assessment of the vitreous
the retinal break may increase the risk. of collagen abnormalities may be a risk factor for
Features may include:
progression of a retinal tear to RRD. retinal break.
- Retinal hole- round or oval
A retinal break does not produce visual loss -These include Stickler's syndrome, Marfan's
- Horseshoe-shaped tear- tip of the tear is pointed
(exception is a macular hole), but the vitreous syndrome, Wagner's syndrome, Ehlers-Danlos
toward the optic nerve. may be an associated
hemorrhage or retinal detachment occurring syndrome, and homocystinuria.
bridging vessel
secondarily lead to the loss of vision. GENERAL PREVENTION - Retinal dialysis- may have pigment along its edge
EPIDEMIOLOGY Development of PVD is not preventable. if there is associated avulsion of the vitreous base
Incidence In most cases progression of PVD to retinal break is and trauma
Incidence of retinal breaks is 6-1 1% in adult eyes at not preventable. Changes in adjacent retina such as lattice
autopsy. Laser prophylaxis to retinal lesions that predispose degeneration or pigmentary change
Incidence of retinal tears in eyes with symptomatic to retinal breaks may seal the area and prevent Peripheral retinal abnormalities
posterior vitreous detachment (PVD) is 8.2% (1 ). development of retinal detachment. Pigmented cells in the vitreous (aka tobacco dust.
1.8% of patients develop a retinal tear that was not Prompt recognition of symptoms of PVD and Schafer's sign)
visualized on initial examination but was noted with assessment may prevent the progression of retinal Vitreous traction
follow-up. break to retinal detachment. Vitreous hemorrhage
Features associated with delayed-onset diagnosis or PATHOPHYSIOLOGY PVD with Weiss ring
development of retinal break associated with PVD Retina breaks develop either secondary to peripheral DIAGNOSTIC TESTS & INTERPRETATION
include vitreous hemorrhage at initial examination, retina stretching and atrophy near the ora serrata
hemorrhage in the peripheral retina at initial Imaging
(retinal hole) or due to PVD with vitreous traction
examination, or new symptoms. B-scan ultrasound may demonstrate retinal break if
(horseshoe-shaped tear, operculated hole, dialysis)
cloudy media obscure visualization of the retina such
Annual incidence of retinal detachment is 12 per
COMMONLY ASSOCIATED CONDITIONS as with vitreous hemorrhage
100,000 per year.
Myopia Pathological Findings
Prevalence Lattice degeneration Full thickness defect in the neurosensory retina
Prevalence of retinal break ranges from 6 to 14%. See risk factors
604
RETlNAL BREAK
DIFFERENTlAL DIAGNOSIS REFERENCES

Chorloretlna Iatrophy or scar ONGOING CARE
Pars plana cyst 1. Caffee RE, Westfall AC, Davis GH, et al.
Enclosed oral bay FOLLOW-UP RECOMMENDATIONS Symptomatic posterior 'lftreous detachment and
Meridional folds There is an increased risk of retinal break in the same the Incidence of delayed retinal breaks: Case series
or contra lateral eye.. and meta-analysis. Am J Ophthalmo/
Vrtreoretinal tuft
PeripheraI cystoid degeneration PATIENT EDUCAnON 2007;144:4$-413. R
lndMduals at an lnaeased risk of retina I 2. Byer NE. What happens to untreated asymptomatic
fl TREATMENT
breakldetad1mem should notify their
ophthalmologist promptly if they develop or note a
d1ange in symptoms sud1 as floaters, photopsia,
retinal breaks, and are they affected by posterior
'lftreous detachment? Ophthalmology
1998;105:1045.
ADDITIONAL TREATMENT visual f~eld defect. or reduced acuity. 3. Mastropasqua L. Carpineto P, Ciancaglini M, fl al.
General Meuures Myopic ind ividuaIs who undergo refractive surgery Treatment of retinal tears and lattice degeneration
Goal is to treat retinal breaks that are at a high risk should be aware of the fact that they remain at a in fellow eyes in high risk patients suffering retinal
of progression to RRD, thus preventing any risk of retinal beaks and RRD. detachment: A prospective study. Br J ophthalmo/
secondary visual loss. 1999;83;1046.
PROGNOSIS
Obse!vatlcn may be recommended when the risk of Treatment is usually uncomplicated with a high rate of
progression to RRD is extremely low (2) as in the successfully sealing the break and preventing retinal ADDITIONAL READING
following situations: Asymplllmatic retinal holes detachment.
that do not have vitreoretin al traction, round holes American Academy of Ophthalmology. Preferred
with operculum (rei ieved vitreous traction} and COMPUCATlONS Practice Patterns. Posterior VItreous Detachment.
atrophic round holes, atrophic holes within an area Progression of retinal tear to RRD despite the fact Retinal Breaks, and Lattice Degeneration PPP.
of lattice that Is self-sealed by pigment. that laser/ayotherapy may occur on occasion (3). September 2008
Additional Thetaples Most common cause of failure is inadequate
Treatment with laser or cryotherapy creates a firm treatment of the anterior extent of tear. Conlin ued
chorioretinal adhesion in the attached retina vitreous traction can extend the tear beyond the . CODES
immediately adjacent to and surrounding the retinal treated area, allowing fluid to leak into the
tear. subretinalspace with RRD. Also, continued vitreous lCDI
Treatment of peripheral breaks should extend traction may produce new tears. 361.30 Rflinal defect, unspedfied
anteriorly up to the ora serrata and to completely VItreous hemorrhage. 361.31 Round hole of retina without detad1ment
around the entire break or dialysis. Epirelinal membrane formation may develop after 361.32 Horseshoe tear of retina without df!achment
Laser prophylaxis to areas of thin reli na may be PVD, and it does not appear to have an inaeased
considered In eyes with an Increased risk of inddence after laser photocoagulation.
development in retinal tear or RRD. CLINICAL PEARLS
Cryotherapy may be used as an alternative to laser
in eyes with doudy media, if the laser cannot reach VItreOuS or retinal hemorrhage at initial examination
the oraI serrata. or if the laser is not avai table. and new symptoms are associated with
delayed-onsfl diagnosis of retinal break associated
SURGERY/OTHER PROCEDURES with PVD.
May be indicated if media opacity such as asteroid
hyalosis. vitreous hemorrhage. or cataract predudes
viewing of the retina for laser/cryotherapy or if RRD
develops.
This may indude pneumatic netinopexy, vitrectomy,
or scleral buckling procedure.
605
RFnNALHEMORRHAGES
Brian J. Forbes
Kathleen Romero
Alex V. Levin
~ BASICS
Genetics DIAGNOSTIC TESTS 8r INTERPRETATION
Genetic retinal disease may be associated with RH: Lab
Norrie disease, Coats disease, juvenile X-linked Initial lab tests
DESCRIPTION retinoschisis, von Hippel Lindau. CBC with differential, PT, aPTTJIN R
RH may occur on the surface or just below the retina
GENERAL PREVENTION Follow-up i special considerations
(preretinal or subretinal). or they may be found
Control of systemic diseases If possible, in case of trauma, consider liver function
witflin the retinal layers. lnttaretinal hemorrhages
Child abuse prevention tests, amylase/lipase.
include tflose in the nerve fiber layer (flame, splinter)
or RH deep in retinal tissue (dot, blot). If there is any concern about coagulopathy, consider
PATHOPHYSIOLOGY vWF, ristocetin cofactor, platelet function, Factors
lntraretinal and preretinal hemorrhages may have AHT: Repetitive acceleratiort-deceleration with or VII, VIII, XII, and XVIII. D-dimer, fibrinogen.
white centers. a nonspecific finding found in virtually without impact causing vitreo-retinal traction is a
any cause of RH. If there is any concern about
major factor. Modulating factors may include hypoxic
vasculitis/hemoglobinopathy, consider ANA, ESR,
ischemic injury. increased venous pressure. and/or
ALERT ACE, serum Ca. sickle cell electrophoresis.
disruption of autonomic supply to the retinal vessels.
Child abuse should be considered in the diagnosis of Increased intracranial pressure, intracranial If possible conduct the glutaric aciduria test for urine
retinal hemorrhage (RH) in any child <5 years old. hemorrhage, blunt trauma, occlusive thrombi in organic acids.
retinal veins, lealcy vessels, and infection. Imaging
EPIDEMIOLOGY Retinal photography if possible
ETIOLOGY
Incidence OCT if available
Hemorrhage originates from retina or choroid.
Hemorrhage is seen in ~85% of shaken baby Possible role for ultrasound if view of retina obscured
syndrome (SBS)/Abusive head trauma (AHT) victims. It depends on a causative agent.
Skeletal survey and bone scan if there is any concern
Hemorrhage can be seen in over 40% of children COMMONLY ASSOCIATED CONDITIONS about abusive injury, CT/MRI head for intracranial
after birtfl in the first 24 h of life. AHT, accidental trauma bleed
Newborn RH are seen most often with Multiple systemic and retinal diseases
vacuum-assisted delivery followed by forceps Indirect ophthalmoscopy required for full retinal view.
delivery, with the lowest incidence in Csection
delivery. ~ DIAGNOSIS Pathological Findings
Traumatic retinoschisis (most often subinternal
RISK FACTORS HISTORY limiting membrane blood) has particular diagnostic
Trauma: Abusive head trauma (AHT), direct Any history of trauma (trauma to orbit. head significance in recognizing SBSJAHT.
orbital/ocular injury, birth process, accidental trauma), fussy irritable child, increased/abnormal RH in AHT (present in two thirds of cases) are often
Infection: Bacterial endocarditis, sepsis, meningitis, bruising, bleeding described as diffuse, extensive, multilayered RH
CMV retinitis, toxoplasmosis, malaria Newborn extending to ora serrata, although some cases may
Intracranial: Papilledema, arteriovenous Investigate for related systemic diseases have milder RH in the posterior pole.
malformation (AVM), ruptured aneurysm Spotted vision. decreased vision in older verbal Additionally, there are reports of diffuse, extensive
Systemic disease: Hemolytic uremic syndrome, children RH with leukemia, fatal head crush injury, newborns,
vasculitis, diabetes (post pubertal only), sickle cell, and fatal motor vehicle accidents.
PHYSICAL EXAM
hypertension (acute on chronic, older children only) Hemorrhages associated with other systemic
Complete eye evaluation including visual acuity if
Coagulopathies: Including thrombocytopenia, age appropriate, visual fields, indirect conditions and accidental head injury are usually
severe anemia, leukemia, factor deficiencies, protein ophthalmoscopy. few in number and confined to the posterior pole;
CIS deficiency, vitamin Kdeficiency subretinal hemorrhage is extremely rare is tflese
Describe RH: Types, patterns. distribution, and
Cardiopulmonary: Carbon monoxide poisoning, number circumstances and retinoschisis is not reported
hypoxia, hypotension, ECMO (although sub-ILM hemorrhage can be seen in
Use detailed descriptions, both words and careful
Metabolidendocrine: Hypo/hypernatremia, drawings. Photography not required but may be leukemia).
galactosemia, glutaric aciduria type 1 useful.
Pharmacologic dilation of pupils is essential when
possible.
606
RETINAL HEMORRHAGES
DIFFERENTlAL DIAGNOSIS Additional '111el'ilples mMPUCATIONS

Inflicted AHT With prolonged vitreous hemorrhage. lntrafoveal o PerlmaOJ lar folds
AccidentaI head trauma hemonhage, or hemonhage in front of the fovea, Amblyopia and strabismus
o Neonatal birth trauma young d1 ildren have a risk of deprivational Retinal detadlment
Hematologic malignandes amblyopia. Patching the better eye may be needed o Vision loss
Collagen vastular disease, va5eulitis to treat amblyopia after the hemorrhage resolves. Neurologically devastated children who have
I
o Coagulopath ies
In newborns vitam in Kcan correct dotting suffered from AHT can have retinal scarring, optic
defidency. atrophy, and cortical visuaI impairment
Retinal hem angioma
Fresh frozen plasma, ayopreclpltate, packed RBC
Prolonged cardiopulmonary resusdtation: Causing transfusion may be needed for a law platelet count
only mild RH in posterior pole
o AVM rupture: Case reports
or bleeding disorder. ADDITIONAL READING
Laser therapy for dlabetfc ret! nopathy, retinopathy of
GalactosemIa prematurity may be given. Forbes BJ, Christian CW, Jukins AR. et al. Inflicted
o Glutaric aciduria type I childhood neurotrauma (shaken baby syndrome}. J
o Malaria
SURGERY/OTHER PROCEDURES Pedlatt Ophthalmol Strabismus 2004;41(2}:80-88.
o Surgery is rarely indicated. Levin AV. Retinal hemorrhages: AdvanCI!s in
Carbon monoxide poisoning
Surgical intervention to remove blood within a understanding. Pediatr Clin Nafth Am
Hyper/hyponatremia
traumatic schisis cavity is controversial and diffio.~lt. 2009;56(2):333-344.
ALERT Young dlildren: Significant nonresolving vitreous Kathi M. Review of Retinal Hemorrhages. Child
Exl!!nsive intraocular hemonhage in young infants hemonhage lowers threshold for early surgical Abuse Identification Toolkit for Professionals Online.
in the setting of acute bra in injury, and in the treatment (vitrectomy}. 1999-2010, Cincinnati Children's Hospital Medical
absence of a history of severe accidental trauma or IN-PATIENT CONSIDERATIONS Center.
underlying medical cause, must be considered to be Hospitalization and management based on a
nonatcidental injury until otherwise proven. causative agent or underlying disease. a Sa1 Alsa {Tapic, Alprilllm, Elactranic
i::r::3 MeelIa Element)
fl TREATMENT ONGOING CARE
See also Child Abuse Section, Leukemia,
Coagulopathles, Retinal Detachment, Congenital
retinopathies
MEDICATION Depends on si!VI!rity and pathology of RH
Treat underlying condition.
None needed for newborns
ADDITIONAL TllEATMENT Often follow-up in 1 month if RH not impacting . CODES
General MNsu,.s vision
Management of acute intraoOJlar hemorrhage is Those with acute disease, retinoschisis, or foveal ICD9
primarily supportie. involvement may warrant more frequent monitoring o 361.10 Retinoschisis. unspecified
Gradual resolution is generally seen usually without Patient Monitoring 362.81 Retinal hemorrhage
slgn!flcant retinal or ~sual sequelae. Close monitoring and observation espedallythose 995.55 Shaken baby syndrome
o Report suspected <hild abuse to mild protertive Ylith largelvlsually slg nlflcant RH
services.
PATIENT EDUCATION
luues far Referral Child safety counseling if acddent CLINICAL PEARLS
o Retinal surgery may be indicated for vitreous
hemorrhage or mao.~lar retinoschisis: PROGNOSIS RH in newborns typically resolve in 1 week from
- Hematology referral If possible leukemia or Resolution is generally seen without sign meant birth, and only in extremely rare cases can
coaguIapathy retinal or visual sequelae from the RH. intraretinal RH can last more than 1 month.
- Infectious disease referra I if there is any concern of Birth RH: Flame-shaped RH are typically resolved RH generally are present and regress, It Is extremely
Infection within 1 week. and datlblot RH usually within 1 uncommon to see the progression of RH.
month. More widespread hemorrhage is more oftl!n seen in
Poor prognostic factors: Severity of intraocular AliT. hematologic malignancies and can be seen
hemonhage, the presence of macular reti noschisis with newborn delivery.
lesions, and the presence of pupillary abnormalities Physidans must report reasonable suspidon of
all predict worse outcome in abusive head injury. abuse to child protective seMces. Abuse need not
be proven.
807
RmNAL MACROANEURYSM
Allen Chiang
Carl D. Regillo
~ BASICS
PATHOPHYSIOLOGY Hemorrhage may occur at various levels:
Inelasticity of retinal arterioles secondary to the - Subretinal and subretinal pigment epithelium
effects of aging, hypertension, and atherosclerotic - lntraretinal
DESCRIPTION disease predisposes to dilatation and formation of a - Preretinal
Acquired retinal macroaneurysms are focal saocular macroaneurysm, of which there are 2 classical types -Vitreous
or fusiform dilations of retinal arterioles within the (2)IC].
first three orders of branching of the arteriolar - Saccular (group 1): Characterized by acute
system: decompensation with a variable degree of Imaging
-Typically located at arteriovenous crossings or intraocular hemorrhage Fluorescein angiography (FA):
arteriolar bifurcations - Fusiform (group 2): Characterized by chronic - Focal, uniform filling in the early arterial phase
-The superotemporal arteriole is the most exudation of plasma constituents - Leakage of surrounding dilated capillaries
commonly reported site of involvement (due to its lndocyanine green (ICG) angiography:
proclivity for visual impairment). ETIOLOGY -Useful for establishing the diagnosis in the setting
See "Risk Factors." of sub- or premacular hemorrhage; longer
EPIDEMIOLOGY wavelength
Macroaneurysms may be bilateral in one-fifth of COMMONLY ASSOCIATED CONDITIONS
See "Risk Factors." Optical coherence tomography:
patients.
- May be useful in cases with chronic exudation to
~ DIAGNOSIS
Multiple macroaneurysms may be present in about track changes
10% of patients.
RISK FACTORS HISTORY Check blood pressure
Systemic hypertension (75%) Painless vision loss; onset may be acute or subacute Pathological Findings
Atherosclerotic cardiovascular disease depending on the type of macroaneurysm. Gross: Distention ofthe retinal arteriole
Hyperlipidemia - Macroaneurysms without any exudation or
Microscopic: Fibroglial proliferation, deposits of
Age (most patients > 60 years) hemorrhage are asymptomatic and usually found
hemosiderin, lipoidal exudates, extravasated blood
Sex (60--80% female) incidentally.
Retinal vein ooclusions (12 x higher prevalence of DIFFERENTIAL DIAGNOSIS
PHYSICAL EXAM
macroaneurysm in area drained by occluded vein) Retinal vascular abnormalities and diseases:
Macroaneurysm is evident on clinical
- Diabetic retinopathy
GENERAL PREVENTION ophthalmoscopic exam; pulsatile flow may be
- Retinal capillary hemangioma
Strict medical management of systemic hypertension observed.
- Retinal venous occlusive disease
Multiple macroaneurysms may be present on rare - Retinal telangiectasis
occasion. - Retinal cavernous hemangioma
Serous retinal detachment. lipid exudation, and/or - Hemorrhagic pigment epithelial detachment of
macular edema may be present. age-related macular degeneration
- Polypoidal choroidal vasculopathy
608
RETlNAL MACROANEURYSM
PROGNOSIS ADDITIONAL READING

. TREATMENT The vtsual prognosis may be variable (2)]8]: Tan CS, Au Eong KG. Surgical drainage of
Observation hemorrhage or in the absence of vision - Macular hemorrhage or chronic edema may result submacular hemorrhage from ruptured ll!linal
loss in decreased visual acuity. arterial macroaneurysm. Act.1 Ofiithalmol Scand
- Spontaneous thrombosis and lnvoludon may 2005;83(2):240-241.
I
occut leaving a vessel kink OYerlying a
Laser photocoagulation (2--4)[8]: pseudodisciforrn plaque.
- Far eKUdation that threatens or involves the fOYea
- Artery may in some cases return to normal. . CODES
in the absence of hemorrhage that would preclude COMPLICATIONS
laser Vision loss related to the following: ICD9
- Low Intensity, longer duration argon green or - Macular scar~ng seconclary to hemorrhage or 362.13 Changes In vascular appea ranee of redna
yellow laser to microvascular changes surrounding chronic edema 362.15 Retinal telangiectasia
the leaking aneurysm - Vitreous hemorrhage 362.30 Retinal vascular occlusion, unspt!Cilied
- Direct treatment af the aneurysm remaIns - Retinal detachment
controversial (may in theory result in vitreous
hemorrhage or branch retinal artery ocd usion and CLINICAL PEARLS
distal isdlemia).
REFERENCES
The superotemparal artery is the most mmmonly
Pars plana vitrectomy: 1. Panton RW, Goldberg MF, Farber MD. Retinal reported site of involvement.
-To clear vitreous hemorrhage artery macroaneurysm: Risk factors and natural
- Far recent (< 1 week) massive subfoveal ICG angiography may be very helpful In establishing
history. BrJ Ophthalmol 1990;74(1 0):595-600. the diagnosis in the presence of significant
hemorrhage. surgical evacuation with subretlnal 2. Abdei-Khalek MN, Richardson J. Retinal hemorrhage.
injection of tissue plasminogen activator has been macroaneurysm: Natural history and guidelines for
described. treatment. Br J Ophthalmol t986;70{1):2-11.
3. Brown OM, Sobol WM, Fal~ JC, et al. Retlnal
ONGOING CARE arteriolar macroaneurysms: Long term visual
outcome. Br J Ophthalmol 1994;78:534-538.
FOLLOW-UP RECOMMENDATIONS 4. Rabb MF, Gagliano DA. Teske MP. Retinal arte~al
Retina spedalist macroaneurysms. Sutv Ophtha/1988;33:73-96.
Primary care physidan for evaluation and
management of associated systemic risk factors (See
Ris~ Factors)
PATIENT EDUCATION
Macroaneurysm: eMedicine Ophthalmology
(hnp:l/emedlclne.medscape.comlardcle/1224043-
overview)
809
RmNAL MICROANEURYSM$
Dan Montzka

Diabetes
PHYSICAL EXAM
On direct or indirect ophthalmoscopy, microaneurysms
appear as pin-point red dots. It may be difficult to
Hypertension
DESCRIPTION Abdominal obesity distinguish them from dot retinal hemorrhages
Retinal microaneurysms are focal dilations of retinal without the help of retinal angiography. Typically,
capillaries that appear as tiny red dots in the retina on PATHOPHYSIOLOGY microaneurysms are found in the macula and posterior
ophthalmoscopy. They are most commonly found in Damage to retinal capillary pericytes results in pole when associated with diabetic retinopathy or
the macula and posterior pole but may be found in the weakness and subsequent dilation and saccular retinal vein occlusions. When found in the peripheral
peripheral retina. They are an indicator of retinal outpouching of capillary walls. Microaneurysms are retina, less common diagnoses such as chronic
microvascular disease. Microaneurysms may be an typically found in the inner nuclear layer (4). They may lymphoma or sickle cell retinopathy should be
isolated finding but are typically found in association rupture resulting in retinal hemorrhage or leak leading considered. Red free filters can be used to enhance
with other microvascular abnormalities such as cotton to retinal edema. the visibility of microaneurysms relative to retinal
wool spots. retinal hemorrhages. alterations in vessel ETIOLOGY pigmentary changes on ophthalmoscopy.
caliber. telangiectasias. lipid exudates. and retinal Increased levels of blood glucose
edema. The location and associated findings are DIAGNOSTIC TESTS It INTERPRETATION
Retinal ischemia Lab
important indicators of the underlying disorder.
Chronic inflammation Initial lab tests
EPIDEMIOLOGY Evaluation for diabetes and hypertension. See
lnddence Diabetic retinopathy Differential diagnosis" for additional testing.
In diabetics diagnosed before age 30, the prevalence Follow-up It special considerations
Hypertensive retinopathy
of retinopathy in persons who had diabetes for Depends on the associated condition
< 5years was 17% and it increased to 97.5% in Retinal vein occlusions:
persons who had diabetes for 15 or more years (1). - Central retinal vein occlusion (CRVO) Imaging
- Branch retinal vein occlusion (BRVO) Fundus photography (color and red free)
In diabetics diagnosed after the age of 30, the
prevalence of retinopathy in persons who had Fluorescein angiography:
diabetes for < 5 years was 28.8% and it increased
to 77.8% in persons who had diabetes for 15 or
~ DIAGNOSIS - Very useful in differentiating microaneurysms from
small dot retinal hemorrhages
more years (2). HISTORY - Early phase of angiogram: Appears as
Microaneurysms are often asymptomatic but may hyperfluorescent dot
Prevalence - Late phase: Hyperfluorescent dot begins to fade,
In nondiabetics, the prevalence of retinopathy found lead to central visual loss or metamorphopsia due to
progressive macular edema from chronic leakage. may find surrounding faint hyperfluorescence
to be 9.8% in persons over 49 years and was indicating leakage
More commonly, microaneurysms are found in
significantly related to the presence and severity of
association with other retinal vascular abnormalities Optical coherence tomography (ocn
hypertension (3).
such as hemorrhage, macular edema, or capillary
nonperfusion that commonly cause visual symptoms.
Microaneurysms may be the earliest detectable sign
of diabetic retinopathy.
In a chronic retinal vein occlusion, microaneurysms
may be the only persistent finding once the retinal
hemorrhages and edema have resolved.
610
RETINAL MICROAIIEURYSMS
DIFFERENTlAL DIAGNOSIS 3_ Yu T, Mitchell P, Berry G, et al. Retinopathy in older

Diabetic retinopathy ONGOING CARE persons without dlabetes and Its relatlonsh lp to
Retinal vein occlusions hypenenslon. Arch Ophfha/mo/1998;116:83-89.
Hypertensive retinopathy FOLLOW-UP RECOMMENDATIONS 4. Moore J, Bagley S, Ireland G, et al. Three
Depends on the underlying condition dimensional analysis of microaneurysms in the
Idiopathic parafovealll!langiectasia Patient M011lfDrlng human diabetic retina. 1 Anat 1999;194:89_
I
HIV Self-ll!sting using an Amsler grid blurred vision or
Sickle cell retinopathy metamorphopsia may be usefulin following
progression or response to treatment. ADDITIONAL READING
Chronic hyperviscosity syndromes (e.g., chronic
lymphoma) PATIENT EDUCATION van Leiden HA, Dekker JM, Moll AC, et al. Risk
Depends on risk factors and assoliall!d condition factors for Incident retinopathy In a diabetic and
nondlabetlc population. ArdJ Ophfha/mol
. TREATMENT PROGNOSIS 2003;121 :24>-251.
Depends on the assodall!d condition
MEDICATION COMPUCATIONS
First Line See "Commonly associated conditions. . CODES
Control ol underlying disorder such as diabetes or Microaneurysms may cause loss of vision resulting
hyperll!nsion from leakage and macular edema. ICD9
SecondUne 362.14 Retinal microaneurysms nos
See treatment of common~ associated conditions. REFERENCES 362.81 Retinal hemorrhage
ADDITIONAL TREATMENT 362.83 Retinal edema
1. Klein R. Klein B, Moss SE, et al. The Wisconsin
Issues for Refemtl epldem lologlc study when age at diagnosis Is 30
Refer for evaluation of risk factors or for specific years or more. Arch Ophthalmo/ 1984; 102(4):
treatment of associall!d conditions by the specialist. 527-532.
SURGERY/OTHER PROCEDURES 2. Klein R. Klein B, Moss SE. et al. The Wisconsin
Direct focal laser photocoagulation of mlcroaneurysms epidemiologic study when age at diagnosis is less
when macular edema affects crthreall!ns vision. than 30 years. Arch Ophthalmo/ 1984; 102(4):
Fluorescein angiography is ofu!n used to guide 520-526.
treatment. Caution must be exercised when treating
juxtafoveal aneurysms since this may result in
pe~cerrtral SCO'Iomas.
611
RFnNALVASCULARTUMDRS
Emil Anthony T. Say
Carol L. Shields
~ BASICS
GENERAL PREVENTION PHYSICAL EXAM
None Retinal hemangioblastoma (RH B):
- Orange-red circumscribed retinal lesion typically
with dilated feeder vessels
Retinal vascular tumors are uncommon and diverse RHB: VHL gene is a tumor suppressor gene that
- Peripheral (B 5%) or juxtapapillary (15%)
hamartomas or malformations of the neurosensory controls proliferation of blood vessels and mutation
- May be associated with localized or remote retinal
causes elevation of hypoxia inducible factor (H IF)
retina. exudation, retinal detachment, glial proliferation
and vascular endothelial growth factor (VEGF) with
They may have systemic associations involving the with traction detachment, macular pucker, twin
formation of hemangioblastomas in the brain and
central nervous system (C NS) and other organs that vessels. or neovascular glaucoma
retina.
may be life-threatening. Retinal cavernous hemangioma (RCH)
RCH: Mutation in the CCM gene leads to loss or
They may be familial or sporadic. -Dark-red, grapelike, saccular aneurysms
decreased expression of CCM protein and
Types (and synonyms): - May occur in the retina or optic disc
malformation of endothelial cells in utero.
- Retinal hemangioblastoma (RH B, capillary - May be associated with overlying fibrosis with
RRH: Characterized by congenital arteriovenous macular traction, vitreous hemorrhage, and
hemangioma, angiomatosis retinae)
malformations (AVMs) without capillary
- Retinal cavernous hemangioma (RC H) vascular occlusion
interposition producing turbulent blood flow and - Not associated with leakage and exudation
- Retinal racemose hemangioma (RRH, congenital
dilation of blood vessels.
arteriovenous anastomoses, cirsoid aneurysm, Retinal racemose hemangioma (RRH)
arteriovenous aneurysms) ETIOLOGY - Dilated arteriovenous communications without
- Retinal vasoproliferative tumor (VPT; see the RHB: Sporadic or germline mutation in the VHL gene capillary interposition
chapter on this topic) leads to formation of hemangioblastomas. - Extensive retinal involvement in cases with
RCH: Sporadic or germ line mutation in the CCM systemic associations and localized or sectorial
ALERT gene leads to cavernous malformations. involvement when isolated
Retinal vascular tumors are associated with both RRH: It is presumably caused by a local defect in - Rarely located in the macula
vision-threatening and life-threatening conditions. maturation of retinal mesenchyme that gives rise to - May be associated with neovascular glaucoma,
vascular tissue at the 7th week of gestation. vitreous hemorrhage, vascular occlusion, and
Pediatric Considerations conjunctival injection
Genetic testing and systemic work-up is advised for COMMONLY ASSOCIATED CONDITIONS - Not associated with leakage and exudation
affected patients. RHB: VHL disease - Pulsating exophthalmos or visual field defects
-Autosomal dominant inheritance when AVMs are present in the orbit or visual
Pregnancy Considerations -Associated with RH B(57%), cerebellar pathway, respectively
Genetic counseling is recommended for affected hemangioma (55%), spinal cord hemangioma
pregnant women (14%), renal cell carcinoma (24%), and DIAGNOSTIC TESTS lr INTERPRETATION
EPIDEMIOLOGY pheochromocytoma (19%) Lab
RCH: Familial cavernous malformation (FCM) Initial lab tests
Incidence Genetic testing to rule out systemic disease
RHB: Incidence is unknown; however, its associated -Autosomal dominant inheritance
syndrome, von Hippei-Lindau's disease (VHL), - Cavernous malformations in the brain, skin, and Follow-up a special considerations
occurs in 1 in 40,000 live births. retina (RC H) Genetic counseling is recommended when germline
In a report by Singh, Shields, and Shields, a solitary RRH: Congenital retinocephalic (CRC) vascular mutations are found.
RHB in ayoung patient (~ 10 years) is associated malformation syndrome (Wyburn-Mason or Patients with systemic associations should be
with 45% risk for VHL compared to 0.5% when Bonnet-Dechaume-Bianc syndrome) promptly referred to a pediatric oncologist,
diagnosed in older patients (6 1-70 years) (see - Unilateral, progressive, and nonhereditary oncologist, neurologist, or neurosurgeon.
Additional reading below). - AVMs involving the skin, brain, and retina (RRH)
Imaging
RCH: Incidence of RCH is unknown. Initial approach
RRH: Incidence of RRH is unknown. ~ DIAGNOSIS Fluorescein angiography (FA) is most helpful:
- RHB (peripheral): Rapid filling of dilated feeder
Prevalence
HISTORY arteriole in arterial phase, intrinsic fine capillaries,
RHB: Prevalence unknown
RHB: Asymptomatic early but may cause severe pain with prominent draining vein and leakage on later
RCH: Prevalence unknown and blindness from neovascular glaucoma when films
RRH: Prevalence unknown advanced - RHB Ouxtapapillary): Diagnosis is established by
No definite racial or gender predilections for any RCH: Mostly asymptomatic and are detected only the fine vascular pattern visualized on the
retinal vascular tumor during routine examination angiogram
RISK FACTORS RRH: Presents as a unilateral blind eye in 48% when - RCH: Slow filling of the aneurysms with
None associated with CRC but are mostly asymptomatic hyperfiuorescent caps superiorly and
when isolated hypofluorescence inferiorly due to settling of red
Genetics blood cells under the supernatant plasma,
RHB: Currently accepted mechanism follows Family history is extremely important, especially in
cases of RH Band RCH, to rule out familial disease typically without leakage of dye
Knudson's two-hit hypothesis affecting the VHL - RRH: Rapid filling of high-flow retinal AVMs with
gene (chromosome 3p2 5-26) or germ line mutation.
adjacent capillary dropout
RCH: Two-hit mechanism in the cerebral cavernous Follow-up a special considerations
malformation (CCM) gene on chromosome Asymptomatic patients with exudates or retinal
7q1 1.2-q21 detachment threatening vision should be followed
RRH: No genetic mutation closely and offered treatment.
Early treatment is needed for symptomatic patients.
Frequency of follow-up is determined by severity of
the condition and degree of visual impairment.
612
RETINAL VASCULAR TUMORS
Diagnostic ProCIIrJu/WSIOthaT COMPLEMENTARY & ALTERNATIVE REFERENCES

MRl, MRA. CTA. or anglography may be requIred to THERAPIES
rule out assodated systemic disease. RHB: Transpuplllary thermotherapy, external or 1. Heimann H, Damato B. Congenital vascular
l'athological Findings proton beam radiotherapy, and local or systemic malformations of the retina and dloroid. Eye
RHB: Composed of capillary-sized blood vessels with anli-VEGFtherapy have been used for RH B, but 2010:24:459--467.
normaI endothelium, vacuolated stromaI cells. and effKaty is incandusive and role is sliII uncertain 2. Singh AD, Shields Cl.., Shields JA. Von Hippei-
I
gliosis (1) (1-3)[C). Undau disease. SurvOphtha/mo/2001;46:
RC H: Dlla1ed, th ln-walied blood vessels. with RCH: There is no proven treatment (1)[C]. 117-142.
interconnections and an intact endothelium (1) RRH: There Is no proven treatment (1)[C). 3. Wong WT, Chew EY. Ocular von Hippei-Undau
RRH: Dilated retinal vessels sometimes occupying disease: Clinical update and emerging treatments.
SURGERY/OTHER PROCEDURES Cuff OJin Ophtfla/mo/2008;19:213-2 17.
the entire retinal thidcness causing tyStic o RH B: Resection and Iigature of feeder vessels has
degeneration and attelluation of the adjacerrt retinal been reported but is technically difficult (2)[C) 4. Messmer E, Laqua H, Wessing A. et al. Nine cases
tissue (1) of cavernous hemangioma of the retina. Am J
RCH: No surgical reports Ophtha/mol 1983;95:383-390.
DIFFERENTlAL DIAGNOSIS RRH: No surgicaI reports 5. Gass JDM. Ci!Vt!l'nous hemangioma of the retina.
ChoroidaI melanoma IN-PATIENT CONSIDERATIONS Aml OphthalmoJ 1971;71:799--314.
Choroidal granuloma Outpatient management 6. Schmidt D, Padle M, Schumadler M. The
Circumscribed choroidal hemangioma congenital unilateral retinocephalic vascular
Retinal macroaneurysm malformation syndrome (Bonnet...nechaume-Bianc
Retinoblastoma ONGOING CARE syndrome or Wybum-Mason syndromet. Review a!
Coats' disease FOLLOW-UP RECOMMENDATIONS the literature. Surv O{iltha/mo/2008;53:227-249.
fl
MEDICATION
TREATMENT
Outpatient care for photocoagulation,
photodynamic therapy, or cryotherapy
In-patient or outpatient for plaque radiotherapy,
vitrectomy, or enucleation
ADDITIONAL READING
Singh AD, Shields JA, Shields CL Solitary retinal
See General measures below. capillary hemangioma. Hereditary (von Hippei-
Petlent Monitoring Lindau disease) or nonhereditary? ArdJ Ophthalmol
ADDITIONAL TREATMENT 6-m onth foiiDW-ups are recommended for most
patients. 2001;119:232-234.
CienenJI Measures
Retinal hemangioblastoma (RHB): Follow more closely when vision is threatened.
-May be observed if small or jllltapapillary, if it is Q S11 Also (Tapic, Al1arithm, Elactronic
not visual~ threatening, or if the patient is
DIET
No restrictions
af:3 Madia El1111nt)
asymptomatic (2)[C) www.fighteyecancer.com
- Laser pho!DCoagulation or photodynamic therapy PATIENT EDUCATION
Advice regarding Implications of genetic analysis www.eyecancerinfo.com
preferred for posterior RH Band cryotherapy when
more ante~or (2)[C) and systemic assodations www.eyecancerbook.corn
- Plaque radiotherapy reserved for more advanced Genetic counseling is essential www.etrf.org
RHB (2)[C] o Use of the Amsler grid for self-monitoring of visual www.genetests.org
Retinal cavernous hemangioma (RCH): d1anges for early diagnosis and treatment www.ncbi.nlm.nih.gov/omim
- Most~ nonprogressive and dlo not require PROGNOSIS
treatment (1 ,4, 5)[C) Retinal hemangioblastoma (RHB):
Retinal racemose hemangioma (RRH): - 40% of affected eyes have vision <201200. . CODES
- Mostly nonprogressive and dlo nat require - Worse when tumors arl! larger (> 4 mm),
treatment (1 ,6)[C] juxtapapillary, or multiple. ICD9
ISsues for Referral - Enudeatlon may be required In 6% of eyes. 228.03 Hemangioma of retina
Treatment should usually be performed by a retina Retinal cavernous hemangioma (RCH}: 743.58 ViiS(IJiar anomalies, congenital
speciaIist or an ocular oncologist. - Most patients maintain good vision. 757.32 vascular hamartomas
Patierrts with positive genetic analyses or imaging - Progressive growth is rare.
tests should be pnornpt~ ll!fl!rred to a neurologist, o Retinal racemose hemangioma (RRH):
neurosurgeon, or pediatric oncologist. - NLP In 48'!1. If cerebral AVM s are present CLINICAL PEARLS
Arlrlitionl 'nlen~pies - VIsion ~ 20/50 In 56% In Isolated cases
Retinal vascular tumors have associated
Retinal surgery is required for persistent vitreous COMPUCATlONS life-threatening systemic conditions that require
hemorrhage or retinal detamment {1)[C]. Loss of vision or globe, and even death when systemic proper Imaging tests and genetic analysls.
Enucleation may be needed for blind and painful assodations are not detected. RH Boften have dila1ed feeding arterioles and
eyes with no potential for vision (1)[C). draining veins, with remote macular edema.
Assocla1ed hemorrhage, vascular occlusion, or RC Hare grape-like aneurysms that are often
neovasculal1zatlon requl res appropriate treatment nonprogressive and do not require treatmerrt.
with laser. ayopexy, or retinal surgery (1 ,4-6)[C). RRH are dilated AVMs of the retina and occasionally
involve the orbit and visual pathway.
613
RmNAL VASOPROLIFERATIVE TUMOR
Emil Anthony T. Say
Carol L. Shields
~ BASICS
Primary cases are idiopathic. Lab
Secondary cases are associated with the Initial lab tests
DESCRIPTION following: Genetic testing is generally not indicated unless von
Vasoproliferative tumors of the retina (VPT) are - Intermediate uveitis (28%) Hippei-Lindau (VHL) disease is considered.
benign vascular lesions located in the sensory retina. -Retinitis pigmentosa (21 %) Toxoplasma titers (lg G and lg M)
They are nonfamilial. -Toxoplasmic retinitis (7%) Toxocara titers (lg Gand lg M)
In a series of 103 patients, Shields and associates - Toxocariasis (7%)
Systemic work-up to rule out other causes of uveitis
reported that the patients were classified as follows - Retinochoroidal coloboma (7%)
lipid profile (cholesterol, HDL. LDL, triglycerides)
(2): -Traumatic chorioretinopathy (7%)
- Primary or idiopathic (74%) Follow-up It special considerations
COMMONLY ASSOCIATED CONDITIONS Positive genetic testing results for VHL should prompt
- Secondary (26%)
Systemic hypertension (14%) systemic evaluation for associated CNS or kidney
In the same series, they may also be subclassified as
Hypercholesterolemia (6%) disease.
follows:
- Solitary (78%) Neurofibromatosis (2%) Imaging
-Multiple (15%) Initial approach
- Diffuse (7%)
Other synonyms for VPT are as follows:
~ DIAGNOSIS Patients with associated retinitis pigmentosa need
additional visual field testing and electroretinogram
- Presumed acquired retinal hemangioma HISTORY (ERG).
-Angiomatous mass Blurred vision and/or floaters are common Fluorescein angiography:
- Peripheral retinal telangiectasia presenting symptoms. - Rapid early filling, fine intrinsic capillary network,
-Angioma/hemangioma-like mass Photopsias and visual field defects are other and late leakage
- Reactionary retinal glioangiosis possible initial symptoms. Ultrasonography:
The disease may be asymptomatic (19%). - Difficult due to peripheral location
ALERT -Medium to high internal reflectivity
Retinal vasoprol iterative tumor can produce PHYSICAL EXAM
-Acoustic solidity without choroidal excavation
extensive retinal exudation and lead to blindness. Visual acuity and laterality:
- Better than 20/40 in up to 50% lndocyanine green angiography:
EPIDEMIOLOGY - Most cases are unilateral - intratumoral vascularization and late diffuse
Predominantly affects older patients (mean age = - Can be bilateral in 40% of secondary cases hyperfluorescence
40 years) Follow-up It special considerations
Appearance:
No gender or racial predilection - Yellowish to yellow-red in color Asymptomatic patients with exudates or retinal
Incidence -Mostly solitary and small (<5 mm) detachment threatening vision should be followed
Represent 1% of all pseudomelanomas - Non- or mildly dilated, nontortuous feeding artery closely and offered treatment.
True incidence is unknown and vein Early treatment is needed for symptomatic patients.
Location: Frequency of follow-up is determined by severity of
Prevalence the condition and degree of visual impairment.
Unknown - Mostly inferotemporal
- located between equator and ora serrata Diagnostic Procedures/Other
RISK FACTORS Associated slit lamp findings: Systemic evaluation and genetic testing for VHL
Unknown - Elevated intraocular pressure disease can be performed when diagnosis is in doubt.
Genetics -Anterior vitreous cells
No definite genetic association - Posterior synechiae
Irvine and co-workers reported on the
-Cataract
PATHOPHYSIOLOGY histopathological findings of patients who underwent
Associated vitreoretinal findings: an excisional biopsy of VPT lesions describing the
Precise pathogenesis is presently unclear. - lntraretinal/subretinal exudation
Current hypothesis is reactive pigment epithelial and presence of benign glial cell proliferation and
- lntraretinal/subretinal blood secondary vasoproliferation, with perivascular
vascular proliferation or reactive gliosis secondary to -Vitreous hemorrhage
a variety of underlying disease processes. lymphocytes, and adjacent fibrinous, lipid, and serous
- Retinal pigment epithelial proliferation exudate (6).
- Preretinal fibrosis
- Macular edema
- Epiretinal membrane
- Exudative retinal detachment
614
REllNAL YASDPRDUFERATIYE TUMOR

Retinal hemangioblastoma (RHB) ONGOING CARE
ChorolclaI melanoma Barbezetto lA. Smith RT. Vasopmlilerative tumor of
Periphera1exudative hemorrhagic chorioreti nopathy FOLLOW-UP RECOMMENDATIONS the retina treated with PDT. RetinB 2003;23(4):
(PEHCR) Outpatient care for photocoagulation, 565-567.
photodynamic therapy, or cryotherapy Heimann H, Bornfeld N, V1J 0, et al.
Retinal cavernous hemangioma (RCH)
I
lnpatient or outpatient for plaque radiotherapy, Vasoprollferatlve tumours of the retina. BrJ
Choroidal granuloma
vltrectomy, or enucleation Ophlha/mol 2000;84(10):1162-1169.
fl TREATMENT
Patient Nlonifloring
6m on1t1 follow-ups are recommended for mort
patients.
a See Also (laplc, Al1al1thm, Electronic
~ Media El1111ntJ
MEDICATION Follow more dosely with lesions threatening vision.
See General measures below. wv.w.ftghteyecancer.com
DIET
ADDITlONAL TREATMENT wv.w.mallg nantmelanomalnfo.com
No restrictions
General Meuuru wv.w.retinoblastomainfo.com
AsymptOmatic patients are observed (1,2)[C]. PATIENT EDUCATION wv.w.eyecancerinfo.com
Symptomatic patients with macular edema, retinal Advice control of blood pressure and cholesterol for wv.w.eyecancerbook.corn
detachment, or exudation threatening vision are primary Glses .. wv.w.etrf.org
generally treated. lndMduallzed patient education for secondary cases
cryotherapy is preferred since most are peripherally based on cause
Use of the Amsler grid for selfmonitDring of visual
located (1 ,2)[C].
d1anges for early diagnosis and treatment
. CODES
Laser photocoagulation or photodynamic therapy
can be considered when posterior in location PROGNOSIS ICD9
(1,2)[C]. Good, patients maintain functional vision In majority 362.13 Changes in vascular appearance of retina
Plaque radiotherapy can be used for advanced cases of cases. 362.15 Retinal telangiectasia
and large tumors measu~ ng more than 2.5 mm In COMPUCATlONS
thickness, as reponed by Cohen and colleagues Loss of vision or globe
(3)[C]. CLINICAL PEARLS
The role of antivascu lar endothelial growth factors is
not known, but this class of medications is often REFERENCES Yellow to yellow-red mass of the retina assodated
used. with non-to minimally dilated feeding retinal artery
1. Shields JA. Decker WI.. Sanborn GE, et al. and vein
lntravitreal or subtenoo's triamcinolone is used to
Presumed acquired retinal hemangiomas. Mostly small, solitary, and located inferoternporally
reduce macular edema.
Ophthalmology 1983;90:1292-1300. Nonfamilial and idiopathic in majority of cases
Issues for Refenal 2. Shields CL. Shields JA, Barren J, et al.
Treatment is usually performed by a retina specialist or Mort patients do not need treatment
Vasoproliferative tumors of the ocular fundus.
an ocular oncologist Classification and manifestations in 103 patients.
Addition# Thetapies Arch Ophlha/mo/ 1995;1 13:615-623.
Retinal dl!t:ad1ment surgery for more extensive 3. Cohen VML. Shields CL, Demird H, et al. lodiine I
inVlllvement (1,2)[C] 125 plaque radiotherapy for vasoprollferatlve
Enucleation for blind painful eyes from neavascular tu mars of the red na In 30 eyes. Ard! Op/Jihalmol
glaucoma (2)[C] 2008;126(9): 1245-1251.
4. Blasi MA. Scupola A. Tiberti AC, et al.
COMPLEMENTARY a ALTERNATIVE Photodynamic therapy for vasoproliferative retinal
TliERAPIES tumors. Retina 2006;26:404-409.
Photodynamic therapy and transpupillary
thermolt1erapy are recent modalities shown to be 5. Nomura Y, Tamald Y, TsuJI H, et al. Transpuplllary
benefidal for some patients (4,5)[C]. thermotherapy for vasoproliferative retina I tumor.
Retinal Cases and Brief Repotts 2009;3:358-36(}.
Ad] unctlve lntravltreal bevadzumab (Avastln)
Injection Is used In cenaln cases to reduce exudation 6. Irvine F, O'Donnell N, KempE, et al. Retinal
vasoproliferative tumors. Surgical management and
and leakage (3)[C].
histological findings. Ard! Ophtha/mo/2000;
lntravitreal or subtenoo's triamcinolone has also 118:563-569.
been used in association with cryotherapy in cases
with concomitant macular edema.
LocaI resection may be performed in selected cases,
althoogh ted1nically difficult to perform [C].
Outpatient management
615
RmNAUCHOROIDAl COLOBOMA
Raza M. Shah
A typically bilateral birth defect resulting from failed
closure of the embryonic optic fissurefcup, during the
PHYSICAL EXAM
As there may be malformations in other parts of the
body (CHARGE syndrome), patients should be
DESCRIPTION 6th week of gestation checked for coloboma of the eye, heart defects,
Developmental defect is caused by defective closure of atresia of the nasal choanae, retardation of growth,
ETIOLOGY
the embryonal fissure. Its effect on vision varies genitourinary abnormalities, and ear abnormalities.
Unknown. It is postulated that a genetic
depending on the size and location of the defect (1)[8]. predisposition is the underlying cause. Findings on funduscopic exam may range from very
mild, small white lesions on the inferior optic disc to
Pediatric Considerations COMMONLY ASSOCIATED CONDITIONS a large defect, which extends from the optic disc to
In children, colobomas are associated with other Iris coloboma the anterior segment.
significant comorbid conditions. Specifically, SCI-90% Retinal detachment Rarely, a normal portion of the fundus is located
of children diagnosed with CHARGE (acronym for a between the defects ("bridge" coloboma).
Microphthalmos
group of developmental abnormalities) have a
Microcornea Patients may have a coexisting iris coloboma (which
coloboma. is what prompted the initial visit to the
Cataract
Pregnancy Considerations Lens coloboma ophthalmologist).
Pregnant mothers with a coloboma have a slightly Optic pit DIAGNOSTIC TESTS & INTERPRETATION
increased risk of having children with a coloboma, but Various systemic birth defects:
the condition has not proven to be fatal.
Lab
- It is often found in several congenital syndromes. None is generally necessary as it is a clinical
EPIDEMIOLOGY including CHARGE syndrome (Goldenhar, diagnosis.
Schmid-Fraccaro. Joubert. Mohr-Clausen, and
lnddence Aicardi syndromes). Imaging
Rare condition occurring in only 0.14% of the general Funduscopic and complete physical examination
population typically elicits the features of choroidal coloboma.
Prevalence ~ DIAGNOSIS B-scan ultrasonography and/or CT scan (none
usually needed) can be used to show a small,
Estimated prevalence of coloboma (all types) is 1 per HISTORY disorganized globe (microphthalmia) with a
10,000. More specific epidemiology for choroidal The effects on vision differ depending on the size retroocular cyst that is connected to the vitreous
coloboma is not currently available (2)[8[. and location of the coloboma. humor inferiorly.
RISK FACTORS Is there a change in vision? Neuroimaging can be used to elicit midline
Risk factors for colobomas include consanguineous Does the patient notice visual field loss? developmental defects.
parents. positive family history, vitamin A deficiency, If the vision loss or peripheral field loss is recent, Optical coherence tomography can demonstrate the
and second-bam child. there may be a recent retinal detachment. transition from normal retina to intercalary
Genetics Are other family members affected? membrane and subretinal fluid (4)[C].
Is there any history of renal, genitourinary, growth,
Can be associated with mutations in the PAX-2 palate, or hearing difficulties?
gene as part of the renal-coloboma syndrome (3)[8].
An irregular autosomal dominant inheritance
pattern is found in many of these patients.
616
RETlNAUCHDROIDAL COLOBOMA
Pathological Findings ADDI110NAL READING

The cl10roldal coloboma shows an absence or ONGOING CARE o Daufenbach D, Ruttum M, Pulido J, et al.
atrophy of choroid and an absence of retinal
pigment epithelium (RPE) with atrophic and gliotic FOLLOW-UP RECOMMENDATIONS Chorloretlnal colobomas In a pediatric population.
retina: Patients will need periodic follow-up with a retina Ophf!la/mology 1991!;1OS:1455-1458.
- The RPE tends to be hyperplastic at the edge of specialist and/or pediatric ophthalmologist. Yanoff Y, Sassani J. Congenital and developmental
dded:s of the pigment epthe/ium. Oruiar piithalogy.
I
the defect. PROGNOSIS
- The sclera In the region Is usually thinned and may In: M~on Yanoff, ed. China: Mosby Elsevier, 2009.
Foveal Involvement Is an Important predictor of
be cystic; the cystic space is often filled with visual acuity.
proIiterated gliaI tissue. Even patients with vay large colobomas may have
DIFFERENTlA.L DIAGNOSIS good vision is the macular arcflitecture is normal. . CODES
Trauma COMPUCATlONS
ChorloretlnaI scar ICD!J
Amblyopia 743.52 Fundus coloboma
Toxoplasmosls Refractive enor
Aicardi's syndrome Choroidal neovascularization
Goldenhar syndrome o Retinal detachment Oater in life) CLINICAL PEARLS
Staphyloma
North carolina macular dystrophy o Patients may have other concomitant s~romes.
REFERENCES o The colobomas may be very small and involve only a
portion of the optic disc. or may lnvolve most of the
. TREATMENT 1. Schubert H. Structural organization of choroidal retina.
colobomas of young and adult patients and The sclera is generally visible through the defect.
ADDITIONAL TREATMENT mechanIsm of retinal detachment. Trans Am
Generall'tfeuutes Ophf!la/mol Soc 2005;1 03:457-472.
Consider systemic evaIuatian fur chromosomal 2. Schubert HD. Choroidal coloboma. Ojllthalmalogy
abnormality 2007;114{12):2369.
Trmment of refractive error and amblyopia, if 3. Eccles MR. Schimmenti LA. Renal-<:oloboma
present syndrome: A multi-system developmental disorder
Low Vision (vision rehabi Illation) services. if caused by PAX2 mutations. Clln Genet
indicated 1999;56:1-9.
4. Gopal L. A dinical and optical coherence
SURGERY/OTHER PROCEDURES tomography study of clloroidal colobomas. Curr
If a patient develops a rhegmatogenous retina I Opin Oj/llhalma/2008;19:249-254.
detachment, vhrectomy w1tl1 laser and lntraocular gas
or silicone oil tamponade is indicated.
617
RmNITIS PIGMENTOSA
M. Rasouli
Sunir J. Garg
Electroretinogram (ERG) is critical to confirm the
diagnosis and assess degree of visual impairment
DESCRIPTION HISTORY Diminuted a- and b-wave amplitude and delayed
Group of hereditary, progressive retinal diseases Variable; some have symptoms starting in timing during scotopic and photopic conditions are
that result in the degeneration of rod (mainly) and childhood, while others have symptom onset during seen even in early stages.
cone photoreceptors; the degeneration starts in the young adulthood. Visual field tesing initially shows patchy loss of
mid-periphery and advances toward the macula. Nyctalopia (night blindness) is the most common peripheral vision; progresses to mid-peripheral field
Significant phenotypic and genotypic diversity symptom and presents earlier in autosomal recessive loss; in advanced cases. only far peripheral and
form; median age of onset 24 years. central island of vision remains ("tunnel vision").
EPIDEMIOLOGY Constricted mid-peripheral visual fields in early Goldmann (kinetic) perimetry is more useful to
lnddence adulthood, which leads to tunnel vision in advanced assess peripheral vision changes.
N/A cases.
Prevalence Although many patients have good central acuity for Rod and cone degeneration
1 in 3,000-5,000 persons decades, a number eventually develop significant
Bone spicule pattern is due to hyperplasia and
vision loss.
RISK FACTORS migration of RPE cells into the neurosensory retina
None Photophobia, especially in diffuse light (e.g.,
in response to photoreceptor cell loss.
overcast days)- difficulty with reading, due to the
Genetics narrow window between too much and insufficient Waxy pallor of the nerve: Indicates axonal loss and
60% of affected people have associated genetic light. overlying gliosis
mutations Photopsia {3 5%) - late sign DIFFERENTIAL DIAGNOSIS
Inherited forms could be autosomal dam inant Leber congenital amaurosis- when visual loss is
(30-40%), autosomal recessive (50~0%), or PHYSICAL EXAM present from birth or first 5 years of life.
X-linked (5--15%). Anterior segment
- Posterior subcapsular cataract {50%) Cancer/melanoma associated retinopathy
Even with the same genotype. patients can present Congenital stationary night blindness
with different manifestations. Posterior segment
-Waxy pallor of the optic nerve head Fundus albipunctatus
In non-syndromic retinitis pigmentosa (RP), more Vitamin A deficiency
than 45 genes/loci have been isolated -Attenuated retinal vessels
- Retinal hypo- and hyper-granularity Congenital infections: Rubella, syphilis
Most common genes (30% of RP cases):
- Bone spicule formation around intraretinal vessels X-linked disorders: Choroideremia, ocular albinism
- Rhodopsin gene (RHO): 25% of autosomal
{mid to far periphery) Mitochondrial disease: Kearns-Sayre syndrome
dominant RP - Cystoid macular edema
- USH 2A gene: 20% of recessive disease Gyrate atrophy
- Optic nerve head drusen {1 0%) Retinoschisis
- RPGR gene: 70% of X-linked RP
-Vitreous cells Hereditary vitreoretinopathies: Familial exudative
GENERAL PREVENTION Sectoral RP: Variant of RP; only 1 or 2 quadrants are vitreoretinopathy, Wagner disease, Stickler syndrome
Controversial: Use of dark glasses to slow affected
progression of retinal damage. Inflammatory disorders: Birdshot
Color vision testing can be normal, or show blue choroidoretinopathy, serpiginous retinopathy,
PATHOPHYSIOLOGY cone dysfunction in advanced RP {acquired multifocal placoid pigment epitheliopathy,
Primary degeneration of rod photoreceptors, and tritanopia) sarcoidosis
secondary degeneration of cone photoreceptors. Decreased contrast sensitivity (Pelli-Robson chart) Maculopathies: Stargardt disease, Cone dystrophies,
The exact mechanism has not been established. DIAGNOSTIC TESTS & INTERPRETATION Sorsby disease
ETIOLOGY
Genetic inheritance in 60%
Lab
Initial lab tests
Genetic tests, if available
rJ TREATMENT
MEDICATION
20-35% of cases are associated with non-ocular
disease (about 30 syndromes) N/A First Line
Usher's Syndrome (1 0-20% of RP cases): Imaging Vitamin A Palmitate 15,000 units daily
Congenital or early deafness followed by RP in Initial approach Omega 3 fatty acids {1400 mg daily)
teenage years Optical coherence tomography (OCT) is useful to Lutein 12 mg daily
Bardet-Biedel syndrome (5% of RP cases): RP, measure retina thickness, assess the photoreceptor
obesity present in childhood, renal failure, layer, and to assess the presence and degree of ALERT
hypogonadism, polydactyly, mental retardation, or cystoid macular edema. If prescribing high dose Vitamin A, need to
mild psychomotor delay. Follow-up a special considerations monitor serumlevels for retinol, triglyceridemia,
OCT imaging in subsequent follow-ups. and liver enzymes.
618
RmNmS PIGMENTOSA
SecandUne ADDITIONAL READING

Macular eclema and subsequenttt visual acuity may ONGOING CARE
I
improve with 3-4 months of chronic topical or oral Hartong DT, Berson E, Dryja TP. Retinitis
carbonic an hydrase inhibitar5. FOLLOW-UP RECOMMENDATIONS pigmentosa. Lanat 2006;368: 1795-1809.
Regular 6-12 month follow-up examinations Hamel C. Retinitis pigmentosa.Or,dranet1 Rare Dis.
l'afient Monitoring 2006;1:40.
Genwal MNsutes
Family surveys are recommended Follow disease progression by regular evaluation of Bhatti, MT. Retinitis pigmentosa, pigmentary
visual acuity, visual fields. and ERG retinopathies. and neurologlc diseases. Cum~
Genetic counseling Neuroly Neurosd Rep. 2006;6:403-413. '
lssu.s for Refwral DIET Daiger SP, Bowne SJ, Sullivan LS. Perspective on
Referra liD low vision rehabilitation dinics Foods high in omega 3 fatty acids and dar~ green
genes and mutations causl ng retinitis plgmentosa.
leafy vegetables. Arch OfiJtha/ma/. 2007;125:1 51-158.
Referra liD Institutions that Introduce coping
strategies with loss of vision and help patients Avoid high dose VItamin Esupplements (400 IU/day) Berson EL. Rosner B, ~ndberg MA. et al. A
obtain new professional s~ills PATlENT EDUCATION randomized triaI of vitamin A and vitamin E
Additional Therapies Genetic testing is important to deterrnine prognosis supplementation for retinitis pigmentosa. Arch
Currently various modes of therapy are being and to understand risk to offspring OJidhalma/. 1993;1 11(6):761-772.
explored including: Gene therapy, stem cell Patients should be reassuned that most activities of Berson EL. Rosner B, ~ndberg MA. et al. Further
lrallSJllantation, implanll!d retinal electrical devices daily Iiving can be performed even with only evaIuatlon of docosahexaenolc acid In patients with
50 clegrees of central vision and low ERG amplitudes retinitis pigmentosa receiving vitamin A treatment
COMPLEMENTARY ALTERNATIVE Controversy regarding antenatal diagnosis - could Subgroup analyses. Arch Ophthalma/ 2004;122(9):
THERAPIES be performed in families with severe or early-onset 1306-1314.
Yellow-orange spectades could help minimize RP. Berson El, Rosner B, Sandberg MA, et al. ClinicaI
pho!Dphobla Significant role of psycho-sodaI counseling in triaI of Iutein in patients with reli nitis pigmen!Dsa
SURGERY/OTHER PROCEDURES various stages of the disease and corresponding loss receiving vitamin A. Arr:h Ophtflalmol. 201 0;
o Phacoemulsification and intraocular lens of function. 128(4):403-411.
Implantation for cataract Genead MA, Fishman GA. Efficacy of sustained
PROGNOSIS
topical d011ol amide therapy for cystic macular
IN-PATIENT CONSIDERATIONS The condition is progressive; 2.6-13. S% loss of lesions In patients with retln ltls plgmentosa and
ln~l Stabilization visual field and 8.7-18.5% loss of ERG amplitude usher syndrome. Arch Ophtha/ma/. 201 0;128(9):
NIA per year
1146-1150.
Prognosis for visual acuity is quill! variable; some
Admission Criteria retain good central visual acuity with advanced RP,
NIA
while others have early loss of acuity. . CODES
IV Fluids The genetic cause is usually a good predictDr of
o NIA severity- X-linlced RP is more severe in early stages ICD9
Nursing of disease. 362.74 Pigmentary retinal dystrophy
NIA In cases of complell! central vision loss. most
patients retain Iight perception from peripheral
Dlschal!le Criteria
NIA
visual field. CLINICAL PEARLS
COMPLICAnONS RP is a genetically diverse group of diseases that
Macular edema and subsequently visual acuily may manifest differently in different patients.
improve with 3-4 months of chronic topical or oral Vitamin supplementation can prolong useful vision
carbon it anhydrase inhibitors.
in these patients by decades.
Inflammation is often mild and does not require Earlier vision rehabilitation programs should be
1rea1ment considered.
819
RmNOPATHY OF PREMATURITY
Eugene Milder
Richard Kaiser
~ BASICS
COMMONLY ASSOCIATED CONDITIONS Severity:
With premature birth: -Stage 1: Demarcation line between vascularized
Myopia and nonvascularized retina
DESCRIPTION Strabismus -Stage 2: Demarcation ridge
Retinopathy of prematurity (ROP) is a potentially - Stage 3: Ridge with extraretinal fibrovascular
Cataract
blinding proliferative vascular retinopathy which is proliferation
associated with prematurity and low birth weight and Retinal detachment
- Stage 4: Subtotal retinal detachment (4A:
can cause lifelong ocular morbidity. Glaucoma extrafoveal, 48: fovea involved)
-Stage 5: Total retinal detachment
EPIDEMIOLOGY
lnddence ~ DIAGNOSIS Plus: Plus disease is defined as dilation and
tortuosity of retinal vessels, vitreous haze and iris
1,300 cases of visual loss from ROP per year in the HISTORY
USA vessel engorgement
Birth weight and EGA Type 1 ROP {treatment recommended within
RISK FACTORS Neonatal clinical course 72 h):
Low birth weight (< 1,500 g) -Zone I, stage 3, or any stage with plus
PHYSICAL EXAM
Prematurity (<30 weeks EGA) Dilated stereoscopic fundus exam: -Zone II, stage 2 or 3 with plus
Complicated clinical course -Dilated fundus exams for neonates 1,500 g or Type 2 ROP {no treatment recommended, close
Prolonged supplemental oxygen less, 28 weeks EGA or less, or any neonate 2,000 follow-up)
g or less felt to be at high risk.. -Zone I, stage 1 or 2 without plus
Genetics -Zone II, stage 3 without plus
Sporadic - First exam should be at <Hi weeks of life, or at
31-33 weeks EGA, whichever is later. DIAGNOSTIC TESTS & INTERPRETATION
GENERAL PREVENTION Staging of ROP
Avoid excessive oxygen therapy using blood gas DIFFERENTIAL DIAGNOSIS
Location: Familial exudative vitreoretinopathy
monitoring
-Zone 1: A circle of the retina centered at the optic Retinoblastoma
PATHOPHYSIOLOGY disc with a radius twice the distance from the disc lncontinentia pigmenti
Normal retinal vascular development is arrested by to the fovea Persistent fetal vasculature
premature birth. Peripheral retinal ischemia leads to -Zone II: The area of the retina beyond zone I
release of vascular growth factors. Retinal and within a circle centered at the optic disc with a Norrie's disease
extraretinal neovascular proliferation occurs. Advanced radius equal to the distance from the disc to the
proliferative disease can bleed, cause traction, and can nasal ora serrata
lead to a retinal detachment and blindness. -Zone Ill: A crescent of the retina outside of zone II
in the far periphery which is widest at the
temporal retina
620
RETlNOPATliY OF PREMATURITY
Early Treatment for Retinopathy of Prematurity

. TREATMENT ONGOING CARE Cooperative Group. ReYised Indications for
treatment of retinopathy of prematurity: Results of
MEDICATION FOLLOW-UP RECOMMENDATIONS the early treatment of reli nopathy of prematurity
FirstUne Examination twice a week for type 2 ROP randomized tria I. Arch Ophthalmo/2003;121 :
Laser phatocoagulation of the avastUiar retina Examination once a week for borderline type 2 ROP 1684-1696.
I
Examination every 2 weeks for low-risk patients Tasman W, Patz A. McNamara JA, et al. Retinopathy
SecondUne of prematurity: The life of a lifetime disease. Ami
Cryotherapy ablation of the avascular retina PATIENT EDUCATION
Educate parents about lifelong morbidity of ROP and Ot/lthalmol 2006;141: 167-174.
SURGERY/OTliER PROCEDURES the need for close follow-t~p with ophthalmology.
Retina surgery for retinal detachment
Nursing . CODES
Bradytardia and apnea can occur during the eye exam ADDinONAL READING
and laser treatment of neonates. Close nursing and ICD9
respiratory supervision Is essential for safety du~ ng Cryotherapy for Retinopathy of Premaru~ty 362.20 Retinopathy of prematurity, unspedfied
exam inalions and treatments. CoopellltiVI! Group. Multi-center trial of cryotherapy
for retinopathy of prematurity. Ophthalmological 362.84 Retinal ischemia
outcomes at 10 years. Arch Ophtha/md 2001 ;119:
1110-t118.
821
RHEGMATOGENOUS RETINAL DETACHMENT
Deepak P. Grover
Sunir J. Garg
~ BASICS
PATHOPHYSIOLOGY Chronic RD:
Vitreoretinal traction is responsible for a RRD. With - May appear transparent
aging, the vitreous liquefies, and a posterior vitreous - May not undulate with eye movement
DESCRIPTION detachment (PVD) often occurs. A PVD usually - lntraretinal cysts, subretinal fibrosis. and
A rhegmatogenous retinal detachment (RRD) occurs occurs without complication. Occasionally, strong demarcation lines are common findings.
as a result of a retinal break or tear that allows fluid vitreoretinal adhesions are present and the o A demarcation line of linear pigment may be
to enter the subretinal space and separate the retina occurrence of a PVD can lead to a retinal break. deposited at the junction of attached and
from the underlying retinal pigment epithelium A retinal break allows vitreous fluid to enter through detached retina.
(RPE). it, separating the retina from the RPE. -Anterior uveitis, rubeosis iridis, cataract, retinal
It is the most common type of RD. neovascularization
ETIOLOGY
EPIDEMIOLOGY Retinal breaks are not uncommon. They typically DIAGNOSTIC TESTS & INTERPRETATION
lnddence occur with greater frequency in patients with Imaging
12 cases per 100,000 population annually in the myopia, ocular trauma, developmental or Initial approach
USA degenerative retinal abnormalities, and Ultrasonography:
Varies amongst different ethnicities from 4 to 12 pseudophak.ic patients. -A-scan ultrasound:
cases per 100,000 Certain conditions may predispose one to the o Retinal tissue will show a large spike
Appears to be more common in males than in formation of a premature PVD (e.g., trauma) and - B-scan ultrasound:
females. and in persons aged 4D-70 years potentiate the formation of a retinal tear. o Helpful if media opacity precludes a complete
ophthalmoscopic exam
Prevalence COMMONLY ASSOCIATED CONDITIONS
45 cases per 15,000 population or 0.3% in the USA Myopia Follow-up ll special considerations
Lattice degeneration Fluorescein angiography (FA):
RISK FACTORS - Helpful in diagnosing cystoid macular edema,
Axial myopia Sticlder syndrome
which may be a complication during the
Lattice degeneration Marian syndrome postoperative course of surgery.
Aphak.ia or pseudophak.ia Homocystinuria Optical coherence tomography (ocn:
Prior intraocular surgery Eh lers--Danlos - Helpful in revealing subretinal fluid. Especially
RRD in the fellow eye beneficial in eyes with complete retinal
Trauma ~ DIAGNOSIS reattachment but incomplete visual acuity
recovery.
Family history of a RD
HISTORY Electroretinogram (ERG):
Familial conditions:
Flashes and floaters: - ERG is useful in differentiating a RD from a
-Stickler syndrome, Marian's syndrome,
- Patients with retinal tears or break.s may notice thickened posterior hyaloid. If the retina is intact
homocystinuria and Ehlers--Danlos
flashes and floaters. an ERG signal should be obtained.
Inflammatory or infectious conditions: - Small, peripheral RDs may be asymptomatic or
- Pars planitis Diagnostic Procedures/Other
present only with flashes and floaters.
-Acute retinal necrosis syndrome Slit lamp exam to detect anterior uveitis, cataract or
Visual field defect: vitreous pigmented granules
- Cytomegalovirus retinitis in AIDS patients
-A progressive loss of visual field is a common
- Ocular toxoplasmosis Indirect ophthalmoscopy with scleral depression for
complaint. May progress to a loss of central vision
Genetics examining the retina for a RD or retinal tear
as subretinal fluid encroaches into the macula. A
No specific genetic mutations have been associated Contact lens examination in conjunction with slit
description of a dark shadow or curtain block.ing
with a RRD. the vision may be given. lamp exam for small peripheral retinal breaks
GENERAL PREVENTION Pathological Findings

PHYSICAL EXAM
Controversy exists over prophylactically treating With an acute RD, as the neurosensory retina
Acute RD:
asymptomatic retinal tears and/or lattice separates from the RPE, the photoreceptors are
- Retinal tear or break., horseshoe tear:
degeneration, which may predispose one to a RRD, separated from their choroidal blood supply. This
o Horseshoe, or flap, tear
with laser photocoagulation or cryotherapy reduces can lead to degeneration of the photoreceptor outer
o A small, pinpoint hole may be found at the
segments. With successful reattachment surgery,
the risk of RD formation. vitreous base with pseudophakic RDs
these outer segments may reform.
-An asymptomatic patient with lattice o Of all RRDs. 50% have more than one break
o Of all breaks. 60% are located in the upper
With a chronic RD, the photoreceptor layer becomes
degeneration has a low risk of a RD and may be atrophic. Furthermore, intraretinal cysts and with
observed without treatment (l)IA]. temporal quadrant 15% in the upper nasal
quadrant. 15% in the lower temporal quadrant subretinal fibrosis may form.
-A myopic, pseudophakic patient with lattice
and 10% in the lower nasal quadrant. DIFFERENTIAL DIAGNOSIS
degeneration with a history of a RRD in the fellow
- loss of retinal transparency, convex, corrugated Senile retinoschisis
eye should strongly be considered for prophylactic appearance
treatment. Serous (exudative) RD
-The RD may undulate with eye movement Tractional RD
- Cell and flare in the anterior chamber Choroidal detachment
- Pigmented granules in the vitreous (tobacco
Acute retinal necrosis
dusting or Shaffer sign)
-The intraocular pressure is usually lower in the eye
with a RD compared to the fellow eye; however,
infrequently, it may be higher.
622
RHEGMATDGENDUS RETINAL DETACHMENT

1. Wilkinson C. Interventions for asymptomatic retinal
Prior to reattachment surge!)' for a RRD, patients
ADDITIONAL TREATMENT should rest as much as possible. breaks and lattice degeneration for preventing
Issues for Referral retinal detachment. Cochrane DatabaSl! Syst /lev
Admlulon Cllterla 2005(1):C0003170.
Vitr@Oretinal speda list - laser and surgical treatment Most vitreoretinal surgery is performed on an
SURGERY/OTHER PROCEDURES outpatient basis.
2. Arya AV, Emerson JW, Engelbert M, et al. Surgical R
management of pseudophaldc retinal detachments:
The goal of surge!)' is to approximate and seal all the A meta-analysis. Ophthalmology 2006;113(10):
breaks. Closure of the breaks oct\lrs with bringing the 1724-1733.
edges of the tear into contact with the underlying RPE ONGOING CARE
and then sealing it. ApprDXimating the 2 edges may FOLLOW-UP RECOMMENDATIONS
be accomplished by pushing the detached retina Following surgical retinal repair, the patient will be ADDITlONAL READING
toward the eye wall (pneumatic retlnopexy, or instructed to maintain a certain head position far
vitrectomy) or bringing the eye wall closer to the Albert DM, Miller JW. Prindfies and practice of
several days following surgery. ophthalmology, 3rd ed. Philadelphia, PA; Saunders
detached retina (scleral budde). Sealing of the breaks Following surgery, a topical antibiotic is given for
is then accomplished by creating adhesions between Elsevier, 2008.
7-1 Ddays, a topical steroid for I month, and a Gass JD. Stereosmpic atlas ofmllCUiar diseases, 4th
the dloroid and detached retina ~aser c:ydopleglc agent for 1 month.
photocoagulation, cryotherapy). ed. Mosby: St. Louis, MO, 1997.
The intraocular pressure is monitored during the Henrich PB, Priglinger S, Klaessen D, et al.
Laser photocoagulation: postoperative course.
- May be used to prevent the progression of the Macula-off retinal detachment-a matter of time?
detachment by creating a scarred" barTier with PATIENT EDUCATION Kiln Monbl Augenhellkd 2009;216(4):289-193.
laser burns. Provtde a patient with a PVD or rlsk factors for a RD Ross WH, Stocld FA. Visual recovel)' after retinal
- umited in that photocoagulation can not seaI a with warning signs of flashes and floaters. detachment Curr Opn OphthaJmoJ
retinal tear In the presence of subretlnal fluid; Warn the patient of the risk of a RD in the fellow eye 2000;11(3):191-194.
therefore, it is seldom used as sole management if one eye has experienced a RRD. Ryan SJ. Retina, 4th ed. Mosby: St. Louis, MO, 2006.
for RD. - Up to 1o-1 S% in phakic_ eyes . Wo lfensberger TJ, Gonvers M. OpticaI coherence
Cryotherapy: - Up to 25-40% in aphak1c or pseudophaIde eyes tomography In the evaIuatlon of Incomplete YlsuaI
-May be used alone, or in conjunction with another If performing cataract surgeI)' or YAG capsulotomy, acuity recovel)' after macula-off retinal
repair modality, In treating a break with shallow warn the patient of the risk of a RD. detachments. Graefes Aldi Gin Exp OphthaJmoJ
subretlnaI fluid around lt. PROGNOSIS 2002;240(2):85--89.
- Umited in cases where large amount of subretinal o Mast RDs, if left untreated, progress causing
fluid is present. permanent deteriolation of central vision. The final
Pnl!umatic retinopexy: visual potential Is dependent on whether the macula . CODES
-Greatest benefit in a phakit patient with a single, Is "off" (separated from the RPE). Once the macula
superior retinal break, and without ather retinal is detached, the photoreceptors beg in to ICD9
pathology. degenerate. . . 361.00 Retinal detachment with retinal defect.
- The retinal break is tam ponaded with an -The most important factor affecting postopemt1ve unspecified
intravitreal gas bubble. visual acuity is the preoperative visual acuity. 361.30 Retinal defect. unspedfied
- After resolution of the subretinaI fluid, either laser - If a macula off" detachment Is operated within
pilotocoag ulatlon or ci)'Otherapy may be applied 72 h from presentation, the patient's visual
to seaI the break. prognosis is more favalilble. CLINICAL PEARLS
Scleral budde: o Chronic. asymptomatic RD may not require
- A flexible silicone band or sponge is permanently treatment if stable. Flasl1es, floaters. and a visual field defect. with or
sutured onto the sdera, indenting it, to relieve without complaints of a dark shadow or curta In vell,
After successful reattachment. recovery may take
vitreoretinal traction on the retinal break. months; however, central vision may never recover are symptoms of a RRD.
- Cryotherapy or photocoagulation may then be even with adequate treatment.
applied. o Of the eyes that are successfully reattached, 50"/o
-lnjectioo of intravitreal gas may also be used. obtain a final visual acuity of 20/50 or better.
- SuCCl!ss rates of 95% may be adlieved.
COMPUCATlONS
Vrtrectomy (1)[AJ: Proliferative vltreoretl nopathy -the most common
- Espedally useful for RDs with posterior breaks, reason for surgical failure
proIilerative vitreoretinopathy, or vitreous Cystoid macular edema
hemorThage. o Rubeasis iridis
- Common tedlnique used for primary RD with or
without a scleral buckle.
- Mechanism allows for a direct release of
vltreoretlnal traction.
- 1ntravitreaI gas or silicone oil may be used to
tamponade the retina in addition to the
application of cryotherapy or photocoaguIalion.
623
RUBELLA [GERMAN MEASLES]
Donelson Manley
Chirag P. Shah
~ BASICS
RISKFAOORS Obstructive jaundice
Not being vaccinated against rubella Radiolucent bone disease
Exposure to active rubella virus Pigmentary retinopathy with saltandpepper
DESCRIPTION changes
Rubella is aworldwide contagious viral infection GENERAL PREVENTION
The measles-mumpsrubella (MM R) vaccine is Glaucoma
best known for its distinctive red rash.
usually given to dlildren before they reach school Purpura
It is also lmown as German measles because it was
age and is highly effective in preventing rubella. Diabetes mellitus in 20% of adults
first described by Genman physicians.
After an incubation period of 14-21 days. rubella Women who are of childbearing age can be tested Thyroid dysfunction in 5%
causes a flu-like disease. A pink. or light red rash to see if they have immunity to rubella. If they are Progressive panencephalitis
appears on the face that spreads to the trunk and not immune they can be vaccinated. Women who Non-affective psychosis
limbs and usually fades after 3 days. This is why it is are pregnant should not be vaccinated, nor should
often called the 3day measles.
There may be a low-grade fever, lymphadenopathy,
those who are immunocompromised.
ETIOLOGY
(i) DIAGNOSIS
joint pain, headache, and conjunctivitis. Caused by the rubella virus, a togavirus that is HISTORY
It is a common childhood illness and is usually mild. enveloped and has a single stranded RNA genome. Exposure to someone with rubella
Complications are rare. COMMONLY ASSOCIATED CONDITIONS PHYSICAL EXAM
It is transmitted by airborne droplets from the upper Findings of congenital rubella syndrome include: External examination including skin to identify
respiratory tract of an infected individual. Miscarriage or stillbirth, prematurity, low birth characteristic rash
Rubella can affect individuals of any age. weight Prenatal screening with ultrasound, amniocentesis,
The virus can pass though the pregnant woman's Cataracts cordocentesis, or chorionic villous sampling
bloodstream to infect her fetus, causing congenital Ultrasound assesses for fetal hydrops, bowel
Congenital heart defects (ventricular septal defects,
rubella syndrome. hyperechogenicity, and intrauterine growth
patent ductus arteriosus, pulmonic stenosis,
EPIDEMIOLOGY coarctation of the aorta) retardation.
A person can transmit the disease from 1 week Deafness DIAGNOSTIC TESTS It INTERPRETATION
before the rash until 1-2 week.s after the rash Ear infection (otitis media)
disappears. Diagnostic Procedures/Other
Encephalitis Nasal or throat swab for viral culture and rubella
After infection there is usually a lifelong immunity. Growth retardation serology. The presence of lgM antibodies along
There is no carrier state and the virus exists entirely Mental retardation in 10-20% with, or a short time after. the characteristic rash
in active human cases. Microcephaly confirms the diagnosis.
Rubella has an incubation period of 2-3 weeks. Transient arthritis in adolescents and adults Serological investigation typically employs
Risk of congenital rubella syndrome is greater with Hepatitis enzyme-linked immunosorbent assays (ELISA),
more severe consequences if maternal infection hemoagglutination inhibition test (H 1), or the
Hepatosplenomegaly
occurs in the first trimester (>50% risk). The risk immunofluorescent antibody assay (I FA)
decreases during the subsequent trimesters. Thrombocytopenia
The virus may persist in infected infants and may be
a source of infection to other infants and to
pregnant female contacts.
624
RUBELLA (GERMAN MEASlfS)
Centan for Disease Cantral dassifiution Richardson M, Elliman D, Maguire H, etal. Evidence
alterla for congenital rubella syndrome: . TREATMENT base of lncubilllon pet1ods, pe~ads of Infectiousness
-Congenital rubella syndrome case: Infants that and exclusion pol ides for the control of
present one or, in the majority of cases, more ADDITIONAL TREATMENT oommunicable diseases in schools and presd1ools.
than one of these following dinical signs or Genw11f Musul'fiS Pediatr lnfec Dis J 2D01;2D(4):38D-391.
symptOms: There is no specific treatment for rubella. Supportive Siegel M, Fuerst HT, Gulnee VF. Rubella epidemicity
o Cata r.~cts/congen itaI glaucoma, oongenital
I
treatment as needed. and embryopathy. Results of a long-term prospective
heart disease (most commonly patent ductus Immune globulin therapy to exposed mother.; does study. Am 1Dis Child 1971;121 (6):469-473.
arteriosus or pe~pheral pul monlc stenosis), not prevent fetal rubella infection.
hearing impainnent. pigmental)' retinopathy.
o Purpulll, hepatosplenomegaly, jaundice. . CODES
miaocephaly, developmentaI delay, ONGOING CARE
meningoencephalitis, radiolucent bone disease.
FOLLOW-UP RECOMMENDATIONS ICD9
- Suspeclt'd case: Clinical signs are evident but
Based on degree and nature of manifestations 056.79 Rubella wtth other specified complications
without the satisfactory criteria to be defined as a
probable case. 647 .SO Rubella of mother, complicating pregnancy,
PROGNOSIS dlildbirth, or1he puerperium, unspedfied as to
- Probable case: A case without laboratory Acquired rubella is usually a mild infection without
confirmation, that has any of the 2 findings listed episode of care
sequelae. 771 .D Congenital rubella
in categal)' 1 of the clinical description or one
Congenital rubella syndrome is chronic and
finding from category 1 and one from 2, and lades
incurable; many its manifestations, such as cataract
evidence of any other etiology.
and diabetes. can be treated. CLINICAL PEARLS
- Confirmed case: CIinical evidence and labollltory
confirmation. Risk. of congenital rubella syndrome Is greater with
- Infection only: L.abollltol)' evidence of infection, ADDinONAL READING more severe oonseq uences if mat8nal infection
without any clinicaI symptOms or signs. occurs in the first trimester (>50% risk).
CDC. MMWR rubella and oongenital rubella
syndrome, United States,1994-1997. MMWR Morl:l Ocular manifestations af congenital rubella
MOTta/ WklyRep 1997;4fi(16):35D-354. syndrome include catalllcts, pigmentary retinopathy,
and glaucoma.
De Santis M, Cavaliere Af, Sll'aface G, et al. Rubella
Infection In pregnancy. Reprod Tax/coi2D06;21 (4):
39D-398.
825
SAlZMANN'S NODULAR DEGENERATION
~ BASICS
DESCRIPTION
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
Salzmann's nodules are creamy white, occasionally Generally asymptomatic
First Line
with a yellow or blue-tinged, smooth, elevated May have symptoms of foreign body sensation, If asymptomatic, no treatment is required.
lesion(s) on the surface of the cornea. pain, redness, and tearing
To decrease the risk of progression, underlying
k; nodules reach toward the visual axis. the vision
EPIDEMIOLOGY conditions can be treated.
may be mildly to moderately affected.
Incidence MGD and DES should be treated if present.
Uncommon but exact incidence is unknown PHYSICAL EXAM Proper contact lens fit, wearing schedule, and care
Tends to occur in middle age Slit lamp examination reveals single or multiple, should be evaluated.
elevated creamy, yellow- or blue-white corneal
Prevalence nodules. Second Line
Much more prevalent in women than in men Foreign body sensation or pain is treated with
Although typically located in the corneal periphery increased lubrication with artificial tears, gels and
RISK FACTORS or midperiphery, the nodules may also be ointments, cyclosporine 0.05% drops, and punctal
Ocular surface inflammation. such as from paracentral or central. plugs.
meibomian gland dysfunction (MGD), dry eye
DIAGNOSTIC TESTS & INTERPRETATION ADDITIONAL TREATMENT
syndrome (DES), phlyctenular keratitis, vernal
lceratoamjunctivitis, trachoma, interstitial keratitis, Imaging General Measures
and trauma, such as long-term contact lens wear Initial approach Salzmann's nodules may remain stable for years or
Most commonly idiopathic Not required if vision is unaffected may slowly progress.
GENERAL PREVENTION Consider corneal topography to evaluate for irregular Issues for Referral
Treat underlying conditions astigmatism ifthere are visual complaints. When discomfort or visual symptoms are not
responding to conservative medical therapy, referral to
ETIOLOGY Pathological Findings a corneal specialist may be warranted.
Thought to be related to low-grade chronic Collagen plaques with hyaline between epithelium
inflammation and Bowman's layer
COMMONLY ASSOCIATED CONDITIONS Bowman's layer may be missing or damaged
See risk factors above. underlying the lesion.
Salzmann's has also been associated with epithelial DIFFERENTIAL DIAGNOSIS
basement membrane dystrophy and after corneal Climatic droplet lceratopathy
surgery. Corneal amyloidosis
Corneal keloid
626
SALZMANN'S NODULAR DEGENERATION
Additional Tllfllilplfls PATIENT EDUCATION

A rigid gas permeable or hybrid contact lens may Patients should return to their eye doctor should they . CODES
occasionally be usefulin lmpnwlng vision In patients develop paln or decreased vision.
with Irregular astigmatism, who are not good ICD9
PROGNOSIS
candidates for surgical excision of the nodule(s). 371.46 Nodular degeneration of cornea
Very good
SURGERY/OTHER PROCEDURES Lesions are often stable for many years, also they
SurgicaI excision of the nodules is recommended may slowly enlarge. CLINICAL PEARLS
wi1en comfort or vision symptoms are not relieved Lesions may recur after surgical exdslon; repeat
by medical therapy. exdslon Is often successful. Salzmann's nodular degeneration Is not r.1re,
Exdsion can often be accomplished by simple especially among middl~aged women.
removal with a blade, being careful not to indse into COMPUCATIONS
Patients may develop epithelial dmects or recurrent Salzmann's nodular degeneration should be
I
Bowman's layer. considered in anyone with creamy wl1 ite. yellow, or
erosions related to the nodules, which could become
Excimer laser photother.~peutic keratectomy (PTK) is bluish, smooth, elevated corneal nodule(s).
Infected.
often used to remove tl1ese lesions. Medical treatment Is often successful for lesions
Recurrences of the nodules after excision may be causing foreign body sensadon, but surgical excision
reduced with the use of intraopeliltive milomydn C. ADDITIONAL READING is generally required for patients with frank pain
Rarely, a lamellar or penetrating keratoplasty is (rare) or decreased vision (common).
required for severe disease or multiple recurrences. Farjo M Halperin Gl, Syed N, et al. Salzmann's Although surgical excision is quite successful,
nodular corneal degeneration clinical characteristics nodules may recur.
and surgical outcomes. Cornea 2006;25: 11-15. Any nodules causing significant Irregular
ONGOING CARE Das S, Link B, Seitz B. Salzmann's nodular astigmatism should be removed prior to cataract
degeneration of the cornea A review and case surgery to obtain the most accurate k.eratometry
FOLlOW-UP RECOM MENDA110NS se~es. Comea 2005;24:772-777.
Asymptomatic patients are generally seen ewry year. readings.
Bowers PJ, Price MO, Zeldes SS, et al. Superficial
Symptomatic patients are seen more frequently keratectomy with mitomytin-{ for the treatment of
based on their symptoms. Salzmann's nodules. J Cataract Rf!fmct. Surg
Patients are seen every few days after surgical 2003;29:1302-1306.
excision to make sure that the cornea is healing well. Marcon /lS, Rapuano CJ. Exdmer laser
photot11er.~peutic k.elilteclomy retreatment of
anterior basement dystrophy and Salzmann's
nodular degeneration wit11 topical mitomydn C.
Cornea 2002;21 :828-830.
627
SARCOIDOSIS
Wayne R. Lo
Biopsy of affected tissues reveals noncaseating
granulomatous inflammation.
Vitreous opacities displaying snowballs/strings of
pearls
Multiple chorioretinal peripheral lesions (active
DESCRIPTION and/or atrophic)
Sarcoidosis is a multisystem granulomatous disease
ETIOLOGY
No definite etiology has been identified. An Nodular and/or segmental periphlebitis (candlewax
of unknown etiology. drippings) and/or retinal macroaneurysm in an
abnormal immune response after exposure to
Organs most commonly affected are the lungs, inflamed eye
minerals, organic substances, or fragments of
thoracic lymph nodes, skin, and central nervous Optic disc nodule/granuloma and/or choroidal
infectious agents has been proposed as a cause.
system. nodules
Macrophages, possibly in response to an inciting
Ocular involvement occurs in 10-50% of sarcoid Conjunctival nodules
agent, release cytok.ines to recruit T-helper
patients. It may involve the orbit, anterior or lacrimal gland enlargement, often resulting in dry
lymphocytes. The activated lymphocytes and
posterior segment, or optic nerve. eye
macrophages are responsible for granuloma
EPIDEMIOLOGY fonmation. Proptosis may result from orbital involvement with a
lnddence COMMONLY ASSOCIATED CONDITIONS mass lesion.
Substantial variation exists across ethnic groups and Heerfordt syndrome: uveitis preceding parotid gland Diplopia may result from either cranial nerve
regions for systemic disease. enlargement and disc edema involvement or an orbital mass lesion.
- 35-80 per 100,000 in African Americans LOfgren syndrome: erythema nodosum, bilateral Findings are typically bilateral though occasionally
-3-10 per 100,000 in European Americans hilar adenopathy, and arthralgias unilateral or asymmetric.
- 15-20 per 100,000 in Northern Europeans
- 1-5 per 100,000 in Southern Europeans DIAGNOSTIC TESTS & INTERPRETATION
- 1-2 per 100,000 in Japanese
Ocular sarcoidosis can occur at any time, may
~ DIAGNOSIS Lab
Elevated serum angiotensin-converting enzyme
predate systemic findings, and is found in HISTORY (ACE) levels are found in 60-90% of patients with
- 10% of American patients Ocular pain, photophobia, floaters, diplopia, and active sarcoidosis.
- 50% of European patients decreased vision may be present, although many Elevated serum lysozyme may be useful in children
- 50-90% of Japanese patients patients are asymptomatic. when ACE levels are less reliable.
Systemic symptoms include shortness of breath, Purified protein derivative (PPD) with anergy panel
RISK FACTORS fever, arthralgias, and skin nodules. may help distinguish sarcoidosis from tuberculosis.
African Americans are 3-1 0 times more likely than Up to 50% of sarcoidosis patients are anergic and
whites to develop sarcoid. PHYSICAL EXAM
have no response to PPD or controls.
The highest prevalence is in 25-50 year olds. Several ocular signs may be present
Abnormal liver enzyme tests
Genetics Mutton-fat keratic precipitates and/or iris nodules
Siblings have a 5 times increased risk of developing (Koeppe/Busacca)
sarcoidosis. Trabecular meshwork nodules and/or tentshaped
HLADRBI has been associated with susceptibility to peripheral anterior synechiae
sarcoidosis.
628
SARCOIDOSIS
Imaging
Chest X-ray Is abnormal In 90% of sarcoidosis
patients. 1)1llcally revealing bilateral and sym metrlc
hilar adenopathy or infiltrates. MEDICATION FOLLOW-UP RECOMMENDATlONS
- Chest CT is superior ID X-fay and may be useful in FlrstUne Routine examination with an ophthalmologist for
patients with atypical dinical or radiographic Topical, periocular. or systemic corticosteroids recurrence of inflammalion
examinations. Cycloplegia Primary care or pulmonologist for systemic
Dmgnostk Pt'Otedures/Other manifestations
SemndUne
Although definitive diagnosis requires a positive Patients requiring chronic treatment may benefrt from PATIENT EDUCATION
biopsy, the presumptive diagnosis is often made nonsll!roidal immunosuppressive agents (e.g., Foundation for Sarcoidosis Researd1
with positivi! lab tests and imaging. methotrexate, cyclosporlne, azathlop~ne, lnflbdmab), (http://W\wl.stopsarcoidosis.org/)
- For inconclusive cases. biopsy sites include
nodular lesions of the skin and conjunctiva, or the
laaimal gland.
prescribed In conjunction with a uveitis spedallst or
rheuma!Diogist
PROGNOSIS
More than 50% retain normal visual acuity, although
s
ADDmONAL TREATMENT 5% have severe bilateral visual loss of less than
Whole-body gallium scans often show inflammation 20/120. Vision loss stems from posterior uveitis,
in areas such as the lungs. lacrimal glands, and Issues for Referral glaucoma, and macular edema.
parotid glands. A positive gaIIiurn scan and elevated Pul monologist for lung Involvement
ACE level is 73% sensitive and 100% spedfic for Rtieumatologlst or uve!tls spedallst for dlronlc COMPLICAnONS
sarcoidosis. immunosuppressive therapy Chronic uveitis
Negative testl ng or biopsy In a patient with hlgh SURGERY/OTHER PROCEDURES Cystoid macular edema
suspicion may warrant referral to a pulmonologist Secondary cataract and glaucoma may require Secondary cataract
for pulmonary function tests or Iung biopsy. cataract extraction or filtering surgery. Secondary glaucoma
Patltologlcal Findings
Noncaseating epithelioid cell granulomas
REFERENCES
Q(Uiar sarcoidosis may masquerade as many uveitic 1. Margolis R. LOWilerCY. Sarcoidosis. CurrOpin
disorders. including Ophtt!almo/ 2007; 18:47o--475.
-Syphilis 2. Bonfloll AA. Orefice F. Sarcoidosis. Semln
-Tuberculosis Ophtt!almol 2005; 20:17 7-182.
-Toxoplasmosis 3. Herbort c. Rao N, Mochizuki M, et al. International
- Multiple sclerosis criteria for the diagnosis of ocular sarcoidosis:
- cyme disease Results of the First International Worlcshop on
- Vogt-K'Dyanagi-Harada syndrome Ocular Sarcoidosis {IWOS). Occ lmm lnffam
- Birdshot dloriorelinopathy 2009;17(3):160-169.
- IntraO(Uiar lymphoma
- Sympathetic ophtha lmla
- Multifocal choroiditis . CODES
0rbita I sarcoidosis may resemble
- Dacryoadenitis lCDI
- DrbitaI or lacrimal gland tumors 135 Sarcoidosis
- OrbltaI pseudotumor 379.24 Other vitreous opadties
- Upogranulomas
- Wegener granulomatosis
629
SCHNYDER'S CORNEAL DYSTROPHY [SCD]
Jayrag A. Patel
Characteristic histopathologic features in host corneal
button after penetrating keratoplasty
DESCRIPTION HISTORY
Symptoms of glare from late teenage years Pathological Findings
Schnyder's corneal dystrophy (SCD) is a rare bilateral
condition characterized with slowly progressive Visual acuity only affected in severe cases and worse Histopathology: Oil-red-O positive lipid material in
abnormal deposition of lipids in the cornea. in photopic conditions stroma, unesterified and esterified cholesterol in
PHYSICAL EXAM Bowman's layer and stroma (5)[A]
EPIDEMIOLOGY
Incidence Confocal microscopy: Needle-shaped or rectangular
Central ring-shaped or disciform gray opacities in crystals may be seen in the anterior stroma.
Unknown the anterior stroma, which may consist of fine
Worldwide largest pedigree (> 200 patients with polychromatic crystals. A crystalline variety in up to DIFFERENTIAL DIAGNOSIS
SCD) has a Swede-Finn heritage. 46% of affected individuals (4)[A]. Cystinosis
RISK FACTORS Diffuse progressive stromal haze can be seen in Bietti's peripheral crystalline dystrophy
Genetics patients older than 40 years old. Infectious crystalline keratopathy
- Corneal arcus develops later with age. Gout
Defective gene localized to short arm of -Progressive decrease in corneal sensation may Multiple myeloma
chromosome 1, at 1p34-36 (1)[A]. occur over lesions. Hodgkin's disease
- Mutations in the UbiA prenyltransferase domain
DIAGNOSTIC TESTS & INTERPRETATION Waldenstriim's macroglobulinemia
containing protein 1 (UBIAD 1) gene have been
identified in 28 unrelated families with SCD to Lab Benign monoclonal gammopathy
date (2,3) [A[. Initial lab tests Plant sap injury
Perform fasting cholesterol and triglyceride tests as Tangier disease
PATHOPHYSIOLOGY they may be abnonnal. lecithin-cholesterol acyltransferase deficiency
Related to a primary corneal lipid metabolism
disorder Follow-up a special considerations
Deposition of phospholipid, unesterified cholesterol, Genetic testing will reveal mutations in UBIADt gene
and cholesterol esters in Bowman's membrane and in affected individuals.
corneal stroma Imaging
Initial approach
EnOLOGY
None
Rare autosomal dominant condition
COMMONLY ASSOCIATED CONDITIONS Confocal microscopy
Hypercholesterolemia
Hypertriglyceridemia
Xanthelasma
Genu valgum (rare)
630
SCHNYDER'S CORNEAL DYSTROPHY (SCD)
COMPUCAllONS 5. Rodrigues MM, Kruth HS, Krachmer JH, et al.

. TREATMENT Recurrence of dystrophy may occur in comeal graft or Unesterlfled cholesterol In Schnyder's corneal
after PTK, but rare. ~alline dystrophy. Am 1 Ophfha/mo/
MEDICATION 1987;104(2):157-163.
Lipid IOWI!ring agerrts if abnormal lipid profile
REFERENCES
If cornea opacity is severely debilitating vision then 1. Orr A. Dube MP, Marcadler J, et aI. Mutations In
corneal transplantation is needed Oamellar or full the UBIADt gene, encoding a potential Bran AJ. Corneal changes in the
thidmess). prenyltransferase, are causal for Schnyder crystalline dislipoproteinaemias. Cornea 1989;8(2):135-140.
Exdmer laser photothelllpeutic kelllleclomy (PTK) corneal dystrophy. PLoS ONE 2007;2(1 ):e6B5. Weiss JS. Schnyder's dystrophy of the cornea: A
for removal of superfidal pathology causing glare 2. Weiss JS, Kruth HS, Kuivaniemi H, rrt al. Mutations Swede-Finn con nectlon. Cornea 1992;11 (2):
I
in the UBIAD1 gene on chromosome short arm 1, 93-101.
reg lon 36, cause Schnyder aystalllne corneal
ONGOING CARE dystrophy. Invest Ofitthalmol VIS Sd 2007;
48(1 1):5007-5012. . CODES
FOU.OW-UP RECOM MENDA110NS 3. Kobayashi A. Fujiki K. Murakami A. et al. In vivo
Every 6 months laSI!r coofocal Microscopy findings and mutational ICD9
,atlent Monltarlng analysis of Schnyder's crystalline corneal dystrophy. 371.56 Other stromal mmeal dystrophies
Visual acuity, glare symptoms Ophthalmology 2009;116:1 029-1037.
DIET 4. Weiss JS. Visual morbidity in thirty three families
Comrol diet to malntaln normal lipid profile. with Schnydt!r's oystalline mmeal dystrophy. Trans CLINICAL PEARLS
Am OphthalmoJ Soc 2007;1 05:616-648.
PA11ENT EDUCATION Check for associated systemic lipid abnormality
Cond ilion is slowly progressive and hereditary. Crystals not necessarily 51!1!11
VISual acuity usually remains good
PROGNOSIS
SCDcan be diagnosed easily durlng the flrst decade,
but patients with SCD sine oystals may be harder to
diagnose and so be delayed up to the fourth decade.
VisuaI acuity remains good usually and may not
necessitate corneal transplantation.
Haze may progress as well as reduced corneal
sensation.
631
SCLERITIS
David Fintak
~ BASICS ETIOLOGY
Noninfectious
- Connective tissue diseases (e.g., rheumatoid
PHYSICAL EXAM
Examine the sclera in all fields of gaze.
Slit lamp evaluation for any areas of avascularity or
DESCRIPTION arthritis. Wegener's granulomatosis. thinning
A rare condition characterized by inflammation and spondyloarthropathies, systemic lupus Check for corneal or anterior chamber involvement.
necrosis of the sclera. Classification: erythematosus), sarcoidosis, status postocular Dilated fundus exam to rule out posterior
Anterior (93-98%) surgery, gout involvement.
- Diffuse (40~4%) Infectious Phenylephrine 2.5% test-place a drop in the
o Widespread inflammation of anterior segment - Herpes zoster. syphilis, tuberculosis, other bacteria affected eye and reexamine the vascular pattern in
- Nodular (22-45%) (e.g., Pseudomonas in cases of scleral ulceration, 1Q-15 minutes. No significant change should occur
o Immovable inflamed nodule Proteus associated with scleral buckle), foreign in scleritis.
- Necrotizing (13-26%) body
o With inflammation (W-23%) Although most scleral inflammation is DIAGNOSTIC TESTS & INTERPRETATION
o Extreme pain. Bluish sclera due to necrosis, non infectious, bacterial or fungal organisms such as Lab
thinning, and increased transparency of sclera Pseudomonas and Aspergillus may cause a severe Initial lab tests
o Without inflammation (3-4%) scleritis that is difficult to treat. CBC, rapid plasma reagin (RPR), fluorescent
o "Scleromalacia perforans. Asymptomatic treponema! antibody absorption (FTA-ABS), serum
- Posterior (2-7%)
-Associated with pain, tenderness, restricted ~ DIAGNOSIS antineutrophil cytoplasmic antibody (ANCA)
Follow-Up & Special Considerations
motility, choroidal detachment, exudative retinal Rheumatoid factor and/or human leukocyte antigen
HISTORY
detachment, and disc swelling (HLA)-827--in presence of polyarthritis or
Patients typically complain of deep and boring pain
EPIDEMIOLOGY that often awakens them from sleep. spondyloarthropathy
Prevalence - May radiate to forehead, brow, or jaw Imaging
Approximately 6 cases per 100,000 Onset of red eye and decrease in vision may be Initial approach
No racial predilection acute or gradual in onset. Chest X-ray (CXR)--to evaluate for tuberculosis and
Female to male ratio--1.6:1 Recurrences are common. sarcoidosis
Elicit history of any pertinent underlying medical Follow-up & spec:ial considerations
PATHOPHYSIOLOGY problems (e.g., rheumatoid arthritis). Radiograph of sacroiliac joints-if ankylosing
Histopathology may show granulomatous or
spondylitis is suspected
nongranulomatous inflammation, vasculitis. and
necrosis.
-Antigen-antibody complexes and/or T cells have
been implicated.
632
SCLERITIS
Diagnostic ProCIIrJu/WSIOthaT o Posterior sderitis REFERENCES

Pu~fted protein derivative (PPD) with anergy panel - NSAlDs, pred nlsone, or 1mmunosuppresslves as
B-sc.an ultrasound--positive r~ sign In post!~or above 1. Watson PG, Hayreh SS. Sderitis and episderitis. Br J
scleritis Infectious Ophtha/mo/1976;60:163-191.
- Use appropriat! lllpical and systemic 2. Jabs DA, Mudun A. Dunn JP, et al. Eplsde~tls and
DIFFERENTlAL DIAGNOSIS scleritis: Clinical features and treatment results. Am
antimiaobials
Anterior sderitis J Opththalmo/ 2000; 130:469-476.
- Episcleritis ALERT
o Sclera not Involved, paIn and assodated Topical steroids are ineffective.
symptoms mild Hany, blood vessels tend ro Subt!nonfsulxon)unctlval steroids are relatively ADDITIONAL READING
blanch with phenylephrine contraindicated.
o Posterior scleritis o Ryan SJ.HintonDR, Sd1achatAP, et al., eds. Retim~.
I
- Amelanatic choroidal melanama 4th ed. St Louis, MO: Mosby, 2006:1731-17411.
ADDmONAL TREATMENT
- Vogt-Koyanagi-Harada syndrome
General Measures
Eye protection recommended for patients with
significant thinning and risk of perforation ( t coDES
. TREATMENT
SURGERY/OTHER PROCEDURES ICD9
MEDICATION Rarely necessary o 379.00 Sderitis, unspecified
Diffuse and nodular scleritis (depending on disease - Sderal patth grafting for impending/overt scleral
severity) o 379.06 Brawny sderitis
perforation 379.07 Posterior scleritis
- NSAIDs (e.g., Ibuprofen 4!XHiOO mg p.o. q6h,
naproxen 250-500 mg q12h)
-Prednisone 60-100 mg q.d. for 1 week followed $ ONGOING CARE
by slow taper
- Immunosuppressive therapy (e.g., methotrexate, FOLLOW-UP RECOMMENDATIONS
azathioprine, cydospori ne, c;yclophospha mide, Depends on the degree of inflammation and sderal
lnfllxlmab, mycophenolate mofetll) thinning
Neaotizing scleritis Decreased pain is a sign of treatment response.
-Prednisone and immunosuppressives as above PROGNOSIS
Recurrences are common.
COMPUtATIONS
Scleral perforation
633
SEROUS [EIUDAnvE) RETINAL DETACHMENT
Deepak P. Grover
Sunir J. Garg
~ BASICS
Vascular DIAGNOSTIC TESTS & INTERPRETATION
- Retinal vein occlusion Lab
- CoalS' disease Initial lab tests
DESCRIPTION - Retinal capillary hemangioma Directed according to clinical presentation
Serous retinal detachment (SRD) is an elevation of - Malignant hypertension Complete metabolic panel
the retina due to accumulation of fluid in the - Preeclampsia/eclampsia
subretinal space and is not associated with traction PT. PTT, fibrinogen, antithrombin Ill, factors V and VII
- Disseminated intravascular coagulation
or retinal hole or tear. - Renal disease Inflammatory workup
An SRD is not due to a retinal break, as is the case o Renal failure
-Antinuclear antibodies
in rhegmatogenous RD (RRD). o Lupus nephritis
- Antineutrophil cytoplasmic antibodies
o Crescentic membranous nephropathy
- El)'throcyte sedimentation rate
EPIDEMIOLOGY o Goodpasture's syndrome
- Rheumatoid factor
lnddence o lgA nephropathy -Angiotensin-converting enzyme
A wide range exists depending on etiology. Neoplastic . Infectious
-An incidence of SRD as high as 32% has been - Choroidal melanoma, osteoma, hemangioma, or - CBC with differential
found for women with severe preeclampsia or metastasis - Lyme titers
eclampsia, with the majority of these resolving - Primary intraocular lymphoma -Venereal Disease Research Laboratol)' (VORL) test
within 1 week. and fluorescent treponema! antibody (FTA) test
- Retinoblastoma
- 60% of cases of optic disc pits may be -Toxoplasma titers
complicated by SRD. Iatrogenic
- CMV titers
- Scleral buckling
RISK FACTORS - Bartonella henselae and quintana titers
- Excessive photocoagulation
- Purified protein derivative (PPD) placement
Underlying vasculitis or autoimmune disease Miscellaneous
Trauma - Bullous central serous choroidopathy Imaging
Acquired immunodeficiency syndrome - Uveal effusion syndrome Initial approadl
Chronic or malignant hypertension - Nanophthalmos Ultrasonography
- Coloboma of the optic nerve -A-scan ultrasound
Renal disease
-Familial exudative vitreoretinopathy o Retinal tissue will show a large spike.
Coagulopathy o Short axial length is indicative of
-Topical prostaglandin use
Neoplastic disorder nanophthalmos.
Ocular surgery
~ DIAGNOSIS
- B-scan ultrasound
PATHOPHYSIOLOGY o Helpful in cases in whidl the retina is not able
Normal~. there is a flow of fluid from the vitreous to be visualized due to media opacity
HISTORY o Thickened sclera or choroid may be seen in
cavity, through the retina, t~ the ~yperosm~lar . A progressive, fluctuati_ng lass of peripher~l vis_ion
choroid. In addition, the retmal p1gment epithelium scleritis, orbital inflammation, or VKH.
with a variable course 1s common. The fluid sh1fts o Calcification sugges!S retinoblastoma.
(RPE) actively pumps ions and fluid from the retina with head position.
and subretinal space into the dloroid. Follow-up ll special considerations
Pain and a red eye may be present in inflammatol)'
A breakdown of the normal inner (retinal vascular Fluorescein angiography (FA)
conditions (e.g., scleritis).
endothelial cells) or outer blood-retinal barrier (RPE) - May reveal source of subretinal fluid and the
A white pupilla!)' reflex (leukocoria) may be noticed nature of the defect causing it
will allow for exudation. In addition, any process
in a child with retinoblastoma. Optical coherence tomography (ocn
that affects the dloroidal vascular permeability may
lead to an SRD. PHYSICAL EXAM - Helpful in evaluating subretinal fluid
Dome-shaped elevation of the retina with Diagnostic Procedures/Other
ETIOLOGY
transparent and smooth retinal walls, as opposed to Check blood pressure
Inflammatory
the corrugated folds in RRD
-Scleritis Slit lamp exam in detection of uveitis or vitritis
- Vogt-Koyanagi-Harada (VKH) disease The subretinal fluid shif!S according to head position. Indirect ophthalmoscopy with scleral depression to
- Sympathetic ophthalmia Associated signs: rule out a retinal tear/RRD
- Orbital inflammatory syndrome -Signs of inflammation:
- Lymphomatoid granulomatosis o Conjunctival injection and chemosis
- Infectious retinochoroiditis o Cell and flare in the anterior chamber
o Toxoplasmosis o Vitreous cells
o Syphilis o Retinal vascular sheathing
o Lyme - Dilated telangiectatic vessels
o Cat scratch disease - Retinal exudates
o Cytomegalovirus (CMV) retinitis - Solid tumor
o Tuberculosis
-Vasculitis/autoimmune
o Lupus
o Wegener's granulomatosis
o Sarcoidosis
o Inflammatory bowel disease
o Polyarteritis nodosa
634
SEROUS (EXUDATIVE) REnNAL DETACHMENT
Patholog/GIJ Findings IN-PATIENT CONSIDERATIONS ADDITIONAL READING

As the net~rosensoJY retina separates from the RPE. Initial Stabilization
the photoreceptOrs lose part of their blood supply Prior to surgery for SRD, piltients should rest as much MeDonald HR. Schatz H, Johnson RN. Treatment of
and may degenerate. as possible. retinal detachment assodated with optic pits. lnt
With a chron it RD, intraretinal cysts, RPE Of/lthalmol Clin 1992;32(2):35-42.
Admission Cl'it.eria Ozdemir H, Karacorlu M, Karacorlu S. Serous
proliferation, and massive leakage lmo the retina Most vitreonetinal surgery is performed on an
and subretinal space ocaJr. macular detachment in central retinal vein
outpatient basis.
In an aarte case of VKH syndrome, an eosinophilic occlusion. Retina 200 5;25(5): 561-563.
exudate containing proteinaceous mate~alls found Saito Y. Tano Y. Retinal pigment epithelial lesions
in the subretinal sp;~ce. ONGOING CARE assodated with choroidal ischernia in preeclampsia.
The subretinal fluid in Coats' disease contains high Rttfna 1998; 18(2):1 03-108.
PROGNOSIS wang M, Munch IC. Hasler PW, et aI. Central serous
I
levels of protein, albumln, and cholesterol.
Depends on the underlying cause chorioretinopathy. Acta O{ilthaJmol 2008;86(2):
DIFFEREN11AL DIAGNOSIS SRDsecondary to preedam psia or eclampsia usually 126-145.
Retinosch isis resolves without any long-term complications.
RRD In patients with central serous chorioreti nopathy,
Tractional RD 15% have a visual acuity of 20/200 or worse. i ; coDES
Choroidal detachment The SRD assodated with optic pits has a poor
prognosis secondary to the development of cystoid ICD9
. TREATMENT macular edema that may form. 361 .2 Serous retinal detachment
In Coats' disease, 75% of treated patients show an 362.42 Serous detachment of retina I pigment
MEDICATION improvement or stabilization of vision from baseline; epithelium
Treat the underlying condition whereas, 30% of untreated patients may haY!!
ADDITIONAL TREATMENT stabilization (3)[8 ].
CLINICAL PEARLS
Genwal MNsu,.s COMPLICAnONS
Neovascular glaucoma In the case of SRD, it is imperative to obtain a good
lntravitreal injection of bewcizumab for SRD has
Choroidal neovasa~lar1zadon history and targeted review of system survey looking
been demonstrated to show a significant reduction
Phthisis bulbi for underlying etiology.
in central foveal thickness and subretinal fluid with
improved visual acuity (1)[8]. It Is altlcal to rule out a retinal break In the case of
an RRD as the management will be different.
lntravitreal injection of triamdnolone acetonide is an REFERENCES
effective treatment of SRDIn patients with central Pregnancy Conslftratlons
retinal Yl!in oalusion (2)[8). 1. Song JH, Rae JH, Rho Ml, et al. lntr.IVitreal Preedam psia and SRD
Issues for Referral bevadzumab in the management of subretinal fluid - In preeclampsia, there is intense vasoconstriction
Vltreoret!nal specialist--laser and surgical treatment associated with choroidal osteoma. Retina of the choroidal arterioles. leading to choroidal
Immunologist or rheumatologist-when 2010;30(6):945-!lSt. Ischemia and RPE Infarctlon. The outer
immunosuppressive therapy is considered. 2. Karacorl u M, Karacor1u SA, Ozdemlr H, et al. blood-n!tinal barrier is broken down causing an
lntravitreaI triamcinolone acetonide for treatment increase in vascular permeability.
SURGERY/OTliER PROCEDURES of serous macular detachmen! in central retinal -After delivery, the subretinal fluid is absorbed by
Must be tailored toward the underlying condition vein ocdusion. Retina 2007;27(8):1 026-1030. the RPE pump. and the SRD usually resolves
Tumors (e.g., d1oroidal melanoma) 3. Shields JA. Shields CL. Review: Coats disease: The without any long-tenn complications.
- External beam radiation 2001 L.uEsther T. Mertz lecture. Retina 2002;22(1): - In severe eclampsia, however. there may be
- 8rachytherapy with plaque 80-91. extensive RPE necrosis. which may prevent the
-Photodynamic therapy for choroidal hemangioma visuaI iKUity from returning to baseline.
Vascular abnormalities (e.g., Coats' disease)
- Laser photocoagulation
- Cryotherapy
- Vltrectomy
Congenital abnormalities
- Nanophthalmos
o Vortex vein decompression with scleral windows
and suprachoroldaI fluid dralnage
- Optic pits or colobomas
o Laser photocoagulation
o Vltrectomy
CentraI serous chorioretinopathy
- Laser photocoagulation
835
SERPIGINOUS
Avni Vyas
Macular
-Clinical and angiographic features ar~ similar ~o.
classic serpiginous except that the les!ons begm _m
DESCRIPTION HISTORY the macula and are not continuous w1th the opt1c
Typically a bilateral, chronic, recurrent infl?mm~tio~ of Typically presents with unilateral yis!on loss,
nerve. . ..
the retinal pigment epithelium (RPE), chonocap1llans, distortion, or scotoma. In the maJOrity of cases, both -Visual prognosis is worse than class1c serp1~mous
and choroid eyes will eventually be affected. . . because of earlier foveal involvement and h1gher
The disease course is chronic and progressive w1th risk. of choroidal neovascularization.
EPIDEMIOLOGY recurrences in both eyes.
Incidence Atypical variants .
Rare. The incidence and prevalence are not PHYSICAL EXAM - Amphigenous-There is a subset of _pat1en~
Anterior segment exam usually appears quiet with initially diagnosed with acute postenor mulllfocal
well-established.
no inflammation. placoid pigment epitheliopathy (APMPPE) ~ho
Most repons suggest that cases of serpiginous Dilated exam classically shows subretinallesions, eventually developed serpiginous choroiditis.
choroiditis constitute less than 5% of cases of which originate in the peripapillary region and These patients tend to have less foveal
posterior LNeitis. Prevalence may be hi~~r in India spread centrifugally in a serpenti~e pattern. _Macular involvement.
as one Indian study reported that serpiiJmous and amphigenous variants of les1ons also ex1st -Relentless placoid chorioretinitis-There _is~
choroiditis made up 19% of all cases of posterior (see below). subset of patients with clinical features s1m1lar to
uveitis (1)[A]. amphigenous; however, the !esions affect the
The visual outcome is related to the proximity of the
Tends to occur in healthy young to middle-aged lesions to the fovea and to the development of entire retina from the postenor pole to the
adults, more commonly males choroidal neovascularization. periphel)'.
No racial or familial predisposition exists. There are three main variants: DIAGNOSTIC TESTS It INTERPRETATION
RISK FACTORS Classic (peripapillal)' geographic) Lab
No known risk factors -Accounts for 80% of cases None
- Lesions begin as creamy subretinal infiltr~tes in .
Genetics the peripapillary region and spread centnfugally 1n Imaging . .
One Finnish study suggests that HLA-87 is more ... Fluorescein angiography (FA) and 1ndocyamne green
a serpentine pattern. .
prevalent among patients with serpiginous choro1d1t1s. angiography(ICGA)
-Active lesions will resolve in 6-8 weeks (with or
-Active lesions (generally at the edges of older
without treatment), resulting in atrophy of the
lesions) show early hypofluorescence and late
PATHOPHYSIOLOGY affected choroid and RPE.
staining on FA.
Chronic. recurrent inflammation of the RPE, - RecuiTences generally occur a~ the edges ~fold
- Old, atrophic lesions show early hypofluoresce~ce
choriocapillaris, and choroid scars and continue to spread 1n a serpentme
and progressive hyperfluorescen~e at the margms
pattern. Recurrences occur at variable intervals
ETIOLOGY with late staining of the underlying sclera on FA.
ranging from months to years. . . .
Unknown - ICGA, which focuses on choroidal circulation,
- Studies have suggested that the fmal v1sual acu1ty
shows hypofluorescence of the lesions.
is less than 201200 in up to 25% of treated eyes.
-The reason for hypofluorescence of the lesions on
FA and ICGA is not entirely known. Possible
reasons include choroidal nonperfusion or
blockage of perfusion by inflammatol)' cells.
636
SERPIGINOUS
VisuaI fields lmmunornodulatory agents COMPLICATIONS

- VIsuaI fleld tesUng demon5trates scotomata - various agents lndudlng methotrexate, The most common com plication a! serpiginous
corresponding to the lesions, which may become cydosporine A, azathioprine, and mycophenolate choroiditis Is choroidal neovasc:ula ~zatlon, which
less dense over time. mofetil have been used for long-tenn oCCllrs in 13-35% of patients.
DIFFERENTlA.L DIAGNOSIS management in steroid-dependent or resistant Reported complications include branch retinal vein
APMPPE cases with good resu Its. Some patients I!JC!Ierience occlusion, periphlebitis, pigment epithelial
recurrences with tapering of immunosuppressive detachment. serous retinal detachment, cystoid
Toxoplasmosis
medlcatiOIIS (3)[A]. macular edema. optic disc neovascularlzatlon,
Tuberculosis subretinal fibrosis. and anterior uveitis.
Muldlocal d1oroldltls - AI kylating agents (cyclophosphamide and
ChoroidaI ischemia chlorambucil) were shown to be effective in
Sarcoidosis managing serpiginous choroiditis. HOWI!III!r, their REFERENCES
I
Syphilis
use in the wrrent management of this condition is
limited by potential t1 severe adverse effects. 1. Um WK. Buggage RR, Nussenblatt RB. Serpiginous
choroiditis. SuN O(iJfhalmol2005;50:231-244.
TREATMENT 2. Akpek EK. llhan-Sarac 0. New treatments for
ONGOING CARE serpiginous choroiditis. Cuff Opin Ofirthalmol
MEDICATION FOLLOW-UP RECOMMENDATIONS 2003;14(3):128-131.
Many treatment regimens have been used but given Frequent follow-up is necessary to diagnose and 3. Akpe!( EK. Baltrtzls S, Yang J, et al. Long -tenn
the rarity of the disease and the chronic nature. there treat recurrences or choroidal neovascularization. immunosuppressive treatment of serpiginous
is Iimited data on long-tenn efficacy. Patients should be instructed to call lor worsening of choroiditis. Ocullmmunollrrflamm 2001;9:
Cordcosterolds 153-167.
visio/1, metamorphopsia, or new scotomas.
- Systemic. peribulbar, and intravitreal steroids are PROGNOSIS
effective in treating active lesions and redudng The disease process is chronic and progressive with
the period of active disease (2)[A]. . CODES
multiple recurrences.
- Relapses are common during steroid tapers or Visual prognosis is guarded due to possible ICD9
after steroids are stopped. scarring/atrophy of the fovea and secondary 363.8 Other disorders of choroid
d1oroldal neovascular!zatlon. 363.20 Cho~oretln Ills, unspecified
CLINICAL PEARLS
Aggressive management of serpiginous choroiditis is
critical to prevent signifiCant vision loss.
637
SEVENTH CRANIAL NERVE PALSY
Scott Uretsky
Imaging
Initial approadl
MRl is modality of choice to rule out secondary
DESCRIPTION HISTORY causes except in trauma cases (CD
The facial nerve is the VII cranial nerve. Bell's Palsy: Isolated, acute to subacute onset of Presentations requiring imaging
- Innervation: unilateral upper and lower facial weakness wiltl - Slow or insidious onset of palsy
o Muscles of facial expression variably manifested hyperacusis. dysgeusia, and - Central and bilateral nerve palsies
o Sympathetic efferents to lacrimal and salivary dysfunctional lacrimation and salivation - Multiple cranial neuropathies
glands -Assess: Dysarltlria, dysphagia, change of hearing -Associated hearing loss and vertigo
o Sensory afferents from tongue, external ear, and and taste, ear and eye pain, diplopia, vertigo, -Attention: Ischemia (diffusion weighted images),
palate ataxia, gait dysfunction, limb weakness, rashes, masses, CP angle, pachymeningeal enhancement
o Taste afferents from anterior two-thirds of facial numbness, and pain (sarcoid), meningoencephalitis (Lyme), skull base,
tongue o Myasthenia Gravis (MG): Variable ptosis and
and brainstem
- Motor dysfunction causes ipsilateral facial diplopia, fatigable extremity weakness
o Demyelination/multiple sclerosis (MS): History of
paralysis
prior focal neurological deficits Disease specific for secondary causes
Bell's Palsy Udiopathic): Most common cause of
unilateral facial paralysis o Guillain-Barre Syndrome (GBS): Preceding Gl or Diagnostic Procedures/Other
-Acute to subacute (hours to days) onset of upper respiratory infection EMG: GBS & MG; include repetitive stimulation,
unilateral upper and lower facial weakness with -Additional history: Trauma, neoplasia, ischemia, consider single fiber EMG
variable symptoms of hyperacusis, dysgeusia, and demyelinating disease CSF: Pleocytosis (infectious/inflammatory),
dysfunctional lacrimation and salivation. o Guides appropriate work-up for secondary albuminocytologic dissociation (GBS), Lyme, lg index
Initial determinations: causes and oligoclonal bands (M S), ACE (sarcoid) and
- Peripheral versus central - Pain is atypical for Bell's Palsy infectious work-up as appropriate
o Consider Ramsay-Hunt Syndrome: HZV with Edrophonium test and Ice test (MG)
-Accompanying clinical signs and symptoms
indicating a non-idiopathic etiology vesicular eruption Chest x-ray (sarcoid related adenopaltly)
o Non-isolated & central VII nerve palsy requires
- Systemic symptoms
work-up PHYSICAL EXAM Mobius syndrome: Aplasia/hypoplasia of cranial nerve
Determine if palsy is central or peripheral and if nuclei
ALERT palsy exists in isolation
Bilateral facial nerve palsy and concomitant -At rest: Note asymmetry of muscle tone, blink DIFFERENTIAL DIAGNOSIS
additional cranial neuropathies require special pattern, widened palpebral fissure, flattened Infectious, inflammatory/demyelinating, infiltrative,
attention. nasolabial fold, and lagophthalmus neoplastidmetastatic, compressive, traumatic, and
Motor activity: Smile and forced eyelid closure idiopaltlic
EPIDEMIOLOGY -Note decreased function on affected side; Bell's - Supranuclear: Ischemia, mass lesion
Incidence phenomenon -Nuclear: Pontine glioma, ischemia, hemorrhage,
-Asses forehead/frontalis function demyelination, vascular lesions
11-40/100,000 per year (1)1A]; more common ages - Intranuclear
o Ask patient to raise/furrow eyebrows and brow
15-45 years o Cerebellopontine (CP) angle: Acoustic
o Central palsies do not affect function of
Prevalence forehead/frontalis; peripheral palsies do schwannoma, meningioma, choleastoma,
None recently reported glomus jugulare tumor (can involve cranial
Examine corneal sensation and reflex
nerves VII- XII)
RISK FACTORS Examine other cranial nerves: V. VI, and VIII are of
o Temporal bone/Skull base: Osteopetrosis,
Bell's Palsy: Pregnancy, diabetes, influenza, upper particular importance for anatomic localization.
trauma, masses, Ramsay-Hunt syndrome,
respiratory infection Examine for long tract signs. for example, extremity hemangioma, naso-pharyngeal carcinoma
Genetics weakness. o Subarachnoid space: Carcinomatous meningitis.
Bell's Palsy: Sparse reports offamilial cases DIAGNOSTIC TESTS & INTERPRETATION GBS, TB, sarcoid, Lyme
Mobius syndrome: Congenital facial diplegia + Lab - Oltler: MG, syphilis, parotid tumors. amyloid,
variable abducens nerve palsy; sporadic Initial lab tests sarcoma, diabetic mononeuropathy, HIV.
Myotonic dystrophy: Autosomal dominant Serum glucose, syphilis serology, CBC, Lyme titer, ACE, lymphoma/leukemia, demyelination/MS, Paget's
trinucleotide (CTG) repeat expansion on 19q 13.3 HgbA1c disease, arteriovenous malformation
Follow-up & special considerations Bilateral VII Nerve palsy: Lyme disease, sarcoidosis.
PATHOPHYSIOLOGY carcinomatous or infectious meningitis, GBS/M iller
Supranuclear, nuclear, intranuclear/peripheral Consider: ESR, CRP, ANA, anti-acetylcholine receptor
Fisher Syndrome, myasthenia gravis. leprosy,
dysfunction of the facial nerve Abs. mono spot test, ANCA, HIV. CSF analysis.
leukemia/lymphoma
serology/stool culture for C. jejuni
ETIOLOGY Pediatric Considerations
Bell's Palsy: Idiopathic, possible viral-associated Acute otitis media
inflammation and/or demyelination
None known; see risk factors.
638
SEVENTH CRANIAL NERVE PALSY
4. En!JS!rom M, Berg T, sqernquist-Desatnik A. et al.

. TREATMENT ONGOING CARE Prednisolone and valac!clov!r In Bell's palsy: A
random ised, double-blind, placebo-controlled,
MEDICATION FOLLOW-UP RECOMMENDATIONS multicentre trial. lancet Neurol 200!1;7:993-1 000.
Bell's Palsy: AmMral agents (most commonly Idiopathic/uncomplicated cases: 1-2 weeks. [A]
acyclovir or valacyclovir) thereafter as approp~ate. s. Grogan P, Gronseth GS. Practice parameter:
- Incomplete fadaI motor function recovery at Corneal exposure requires ophthalmic Steroids, acyclovir, and surgery for Bell's Palsy {an
I year. monitoring. evidence-based review): Report of the Quality
0 Antivira Is versus (vs.) placebo: No sign meant
- Corneal status dictates frequency. Initial dally Standards Subcommittee of the AAN. Neurology
difference: Relative Rate (RR): 0.88 (1)[A] follow-up required for corneaI breakdown or 2001;56: 83G-a36.
ulceration.
o Antivirals and corticosteroids versus placebo:
I
Significantly better outcomes: RR: 0.56 (1 )[A] l'llfifmt Monitoring
Diabetics: Serum glucose monitoring during steroid ADDITIONAL READING
o Adverse events (antivirals vs placebo): No
slgnlllcant differences: RR: 1.06 therapy. o Wang CH, Chang YC, Shih HM, et al. Fadal palsy !n
o Conclusions: Antivirals versus placebo: Do not PATlENT EDUCATlON children: Emergency department management and
enh anee complete functional recovery (high Prevention and S}!Tiptoms of corneal injury outcome. Pediiltr Emerg Care 201 0;26: 121-125.
quality); antillilals versus corticosteroids: Gilchrist JM. Sewnth a-anial neuropathy. Semin
PROGNOSIS Neurol, 2009;29:5-13.
Sig nificantty less likely to produce complete Bell's Palsy: Functional recovery excellent In
recovery (moderate quality} (1 )[A] Hazin R, Azimdeh B, Bhatti, MT. Medical and
>BO%
surgical management of facial nerve palsy. Cu"
Bell's Palsy: Corticosteroids - Improved functional outcomes with incomplete
Op/n O{i!thalmol 2009;20:440-450.
- Incomplete fadaI motor function recovery palsies and early onset recovery (< 3 weeks)
~6 months: - More complete palsies: Higher likelihood of Rahman I, Sadiq SA. Ophthalmic management of
incomplete recovery and aberrant regeneration facial nerve palsy: A review. Surv Ophtha/mo/
o Corticosteroids 23%, Placebo 33%; RR 0.71 2007;52:121-144.
(2)[A) - Poorer prognosis: Hyperacusis, decreased tearing,
o Molar synkinesis was significantly reduced with hypertension, age >60 years, diabetes, psychiatric
corticosteroids versus placebo: RR 0.6 (2)[A] disease. pregnancy
o Conclusion: Evidence reveals sig nif~eant benefit o Recovery dependent on site and extent of nerve . CODES
from conicosteroids (2)[AJ injury
EMG and nerve conduction studies: Preservation of ICD9
Recommendations motor am pi irudes indicates axonal continuity and 351.0 Bell's palsy
- Early Inltlatlon of corticosteroids Is of beneilt suggests good prognosis for recovery. 351 .8 Other facial nerve disorders
0 Sullivan et al. (3)]A]: Prednisolone 25 mg b.i.d
Pediatric Coruiderafions 351 .9 FadaI nerve disorder, unspecified
for 10days
o Engstrom et al. (4)[A]: Prednisolone 60 mg daily
Neoplastic and congenital etiologies associated with
x 5 days followed by 10 mglday taper over incomplete recovery CLINICAL PEARLS
5days COMPLICATIONS Differential!! centraI versus periph eraI palsies
o Antivira I therapy has no proven benefit; some Aberrant regeneration resulting in: Motor Synld nesis
o Bell's Palsy treatment Oral corticosteroids for 10
practitioners recommend use in severe or or Crocodile Tears
com,Xete palsies. days amivirals for severe/complete palsies.
Hemifacial Spasm
CorneaI health and protection must be monitored
ADDITIONAL TREATMENT Treatment: Chemodenervation with botulinum toxin d054!ly.
Ge,.,..,l MNsutes
Oplnhalmic concerns: Prevention of exposure REFERENCES
keratitis and corneal injury
- Lubrication: Anificial tears, methylcellulase-based 1. L.oclchan P, Daly F, Pltkethly M, et al. Antiviral
ointment. eye patching, and/or moisture chamber treatment for Bell's palsy (idiopathic facial
qhs. paralysis). Cochrane Database S)St Rev 2009; (4):
- Surgical management required with potential or CD001869. [A)
ongoing corneal injury. 2. Salinas RA. Alvarez G, Daly F, et al. Corticosteroids
lssws for Referral for Bell's palsy {idiopathic fadal paralysis).
Corneal exposure Cochrane DatabaseS~ Rev 2010;(3):CD001942.
Acute nerve Irauma or transection: Consider primary [A)
neuronhaphy 3. Sullivan FM, Swan IRC, Donnan PT, et al. Early
treatment with prednisolone or acydovir in Bell's
COMPLEMENTARY ALTERNAnYE Palsy. NEng J Med 2007;357:1593-1607. [A]
THERAPIES
Acupuncture and physical therapy lack adequate
l!lltdence.
o Facial nerve decompression lacks sufficient
evidence (S)
SurgicaI management: Corneal sequela
-Gold weigln implant (upper lid) or tarsorrhaphy
o For incomplete eyelid closure
o Prevents and treats comeal injury
839
SJIGREN'S SYNDROME
Apurva Patel
Frederick B. Vivino
Vatinee Y. Bunya
- Ocular signs (unanesthetized Schirmer's test
::55 mm at 5 minutes, rose bengal staining >4 on
van Bijsterveld scale),
DESCRIPTION HISTORY o Van Bijsterveld scale sums amount of rose
Sjogren's syndrome is a chronic autoimmune Symptoms of dry eye (burning, stinging, gritty bengal staining in: Nasal conjunctiva, Temporal
disorder in which the body mistakenly attacks its feeling, artificial tear use) conjunctiva, and cornea. Each area is assigned a
own exocrine tear and salivary glands, leading to dry Symptoms of dry mouth staining score of 0-3. Sum of scores equals
mouth (xerostomia) and dry eyes History of rheumatic symptoms or severe fatigue total score (maximum score of 9).
(keratoconjunctivitis sicca). - Oral signs (abnormal salivary scintography, parotid
PHYSICAL EXAM
In addition, patients can have systemic features Visual acuity sialography, or unstimulated salivary flow
involving multiple systems throughout the body < 1.5 mL in 15 minutes)
Lid exam looking for ooexisting meibomian gland
including the skin, lungs. liver, lc.idneys. - Minor salivary gland biopsy showing ~ 1
disease or blepharitis
gastrointestinal tract, vasculature, blood, and oon~ lomeration of >50 mononuclear cells in 4
nervous system. Tear break-up time, abnormal if< 10 seconds mm of glandular tissue.
Staining of conjunctiva and oomea with lissamine Autoantibodies: Positive anti-Ro/SS-A or
EPIDEMIOLOGY green or rose bengal (note rose bengal may cause anti-La/SS-B
lnddence stinging and is less well-tolerated than lissamine
Primary Sjogren's syndrome is diagnosed in
Not well-defined. green)
previously healthy individuals with sicca symptoms
Prevalence Staining of conjunctiva and cornea with fluorescein which arise de novo.
1.3 million patients with primary Sjiigren's in US Schirmer's test Diagnosis of primary Sjogren's requires at least 4
(range 0.4-3.1 million) -Abnormal if unanesthetized and ::55 mm at positive criteria, one of which has to be
Prevalence rate 0.43% (0.13-1 %) 5 minutes histopathology or serum autoantibodies.
- Unanesthetized test measures basal and reflex
RISK FACTORS Diagnosis of secondary Sjogren's requires at least 1
tear secretion
Females are affected 9 times more frequently than sicca symptom, an established connective tissue
-With topical anesthetic. test measures basal tear disease diagnosis, plus 3 signs of Sjogren's (see
males. secretion
Onset usually fourth to sixth decade of Iife. criteria 3-5 above).
DIAGNOSTIC TESTS & INTERPRETATION Pathological Findings
Genetics
Familial predisposition possible, but no single gene
Lab Lacrimal gland biopsy shows focal and/or diffuse
Initial lab tests lymphocytic infiltration. Advanced disease can show
has yet been identified.
Autoantibodies fibrous or fatty replacement of glandular structures.
PATHOPHYSIOLOGY Anti-Ro/SS-A or Anti-La/SS-B positive in 40--60% of Labial salivary gland biopsy shows similar changes
Lymphocytic infiltration and destruction of the lacrimal patients with primary Sjogren syndrome and is less invasive than lacrimal biopsy.
and salivary glands likely triggered by a viral and/or ANA and RF-positivity may be seen in up to 90%
environmental cue in a genetically susceptible DIFFERENTIAL DIAGNOSIS
Follow-up & special considerations Age-related or medication-induced dry eye and dry
individual. Low complement C4 and cryoglobulins may be mouth.
ETIOLOGY markers for lymphomas. Thyroid eye disease
Exact etiology unknown. Imaging Lacrimal infiltrative disease (amyloidosis,
Commonly Associated Conditions No ophthalmic diagnostic imaging indicated. sarcoidosis, lymphoma)
Systemic lupus erythematosus, rheumatoid arthritis, Nuclear medicine salivary scintigraphy is useful in Other causes of ocular irritation (blepharitis, eyelid
mixed oonnective tissue disease, systemic sclerosis, evaluation of xerostomia malposition, trichiasis)
autoimmune thyroid disease, autoimmune liver
Diagnostic Procedures/Other Hypovitaminosis A
disease, inflammatory muscle disease, and
leulc.ocytoclastic vasculitis. American-European Consensus Group Diagnostic Other causes of dry mouth (e.g., mouth-breathing,
Criteria (1 )[C] radiationinduced xerostomia)
When sicca symptoms (dry eyes and mouth) develop
in patients with established connective tissue 6 criteria:
disease, the diagnosis is considered seoondary - Symptoms of aqueous tear insufficiency (dry eye
Sjogren's syndrome. for 3 months. foreign body sensation, artificial
tear use > 3 x /d)
About 5% of patients develop non-Hodglc.in B-cell
- Oral symptoms (dry mouth for 3 months, swollen
lymphoma within 10 years of diagnosis.
salivary glands, need to drink liquids to swallow
food)
640
SJ6GREN'S SYNDROME
REFERENCES
t . Vitali C, Bombardieri S, Jonsson R, et al.
MEDICATION FOLLOW-UP RECOMMENDATIONS Classlflcatlon cr!terla for Sj6gren's syndrome: A
RrstLine o Follow every 4-6 months or more frequently revised version of the European criteria proposed
Artificial te.~rs (preservative-free if used more ti1an depending on severity of disease. by the American-European Consen~ Group. Ann
4x/d~) o Warn patients of signs and symptoms of microbial Rheum Dis 2002;61:551Hi64.
keratitis. as there Is a higher r!slc: with corneal 2. Barber LD, Pllugfelder SC, Tauber J, et al. Phase Ill
Topical cyclosporine 0.05-1% 1 drop OU 2xlday epitheliaI bre.~kdown. safety evaluation of cyclosporine 0.1% in
(2)[A] o Contact lenses may be wom wiltl close observillion ophltlalmlc emulsion administered twice dally to
Cyclosporine drops often bum on instillation; this once corneal epithelium is healed. Newer contact dry eye disease patients for up to 3 years.
usually Improves with continued use. lenses designed for patients with dry eyes should be 0/i!thalmo/ogy 2005;112(1 0):1790-1794.
I
10% N-acetytcysteine 1 drop .Wday for filamentary considered.
keratitis. DIET ADDITlONAL READING
Second Une Omega-3 fatty acids have been shown to be beneficial
Topical steroids (monitor for intraowlar pressure in dry eye syndromes in general, and may be helpful in Kassan SS, Moutsopoulos HM. Clinical
elevation and cataract formation) Sjiigren's syndrome. manifestations and early diagnosis of Sjogren
Topical autologous serum drops syndrome.Atdr lntem Med 2004;164:1275-1284.
PATIENT EDUCATION
Systemic immunomodulatory therapy including oral Foulks GN. Tre.~trnent of dry eye disease by the
o Patients should understand that SjiJgren's syndrome
steroids, hydroxychloroquine, azathioprine, is most often a chronic cond ilion whose symptoms non-iJ!)hthalmologist. Rheum Dis CHn North Am
cyclophosphamide, methotrexate, and IV rituximab 2008;34:987-, 000.
are treatable, but not curable. Dry eye and dry
are used for systemic disease. Usually managed in mouth symptoms are usually manageable with
consultation with a rheu matologlst. medications. Follow-up with a rheumatologist and
Muscarinic agonists (pilocarpine PO S mg 3-4x/day an ophthalmologist are Important In maintaining . CODES
or cevimeline 30mg PO 3Jtfday) systemic he.~lth and eye health.
o The Sjilgren's Syndrome Foundation m~ be a useful ICD9
ALERT 7t 0.2 Sicca syndrome
resource for patients. WIIIW.sjogrens.org
Avoid prescribing medications with anti-cholinergic
side effects thi!l can exacerbate sicca symptoms. PROGNOSIS
o Slgnlflcant reduction but not always elimination of CLINICAL PEARLS
ADDITlONAL TREATMENT ocular symptoms wlltl therapy as above.
Systemic manifestations and lymphomas are There Is a wide spectrum of dry eye disease, Yfhlch
Gelleral Meuutes can make distinguishing Sj6gren's syndrome
Hurnidified air treatable when diagnosed early.
o Mortality increased in lymphoma patients but
patients from other dry eye patients challenging.
Fish oiI or flaxseed oil supplements Consider the diagnosis in any patient wiltl
Treat melbomIan gland dlsea.~elf present equivalent ID non-SjOgren's patients wiltl
symptoms of dry eye and dry mouth, or with
lymphoma.
warm compresses ID eyelids twice daily for refrac!Diy or severe dry eye disease. Multidisciplinary
5-1 0 minutes. COMPUCATIONS eYa luatlon Is heIpfulln making the diagnosis af
Clean eyelid margin daily wiltl commercial eyelid o Corneal surface breakdown causing corneal Sjogren's syndrome.
.scrub or cotton swab moistened witi1 baby shampoo ulceration, sea rring. The dry eye symptoms of Sjogren's syndrome dry eye
andWiller. o lnaeiSed prevalence of lymphoma (5%). can be well-managed with a regimen ollubricants.
Issues for Refe~l 25% of pat!ents have extraglandular Involvement anti-inflammatory drops, and pu nctal ocd usion or
An ophltlalmologist should be involved at baseline (can be of any organ system). cautery. Some patients will require systemic
for evaluation of ocular criteria and then every Pediatric CotJslderatlons medications and close collaboration wltt1 a
4--fi months. or more frequently as needed if dry eye rtteumatologist to achieve symptom relief.
Sjiigren's syndrome may occur in children (about
symptoms and signs are uncontrolled wiltl artifidal Dry eye symptoms are a common presenting
300 reported cases) and most commonly presents as
tears. complaint to the aphthaImologist. Given the rate of
recurrent parotitis without sicca symptoms. undiagnosed Sjiigren's syndrome (estimated at
Refer patients wltt1 meumatlc symptoms and/or
systemic disease to a rtteumatologist. l'regnancy CQIJsider.tions 50%), the ophthalmologist should be mindful of the
Mothers who are antiRo/Sl"r-A positive may gille birth diagnosis in all dry eye patients and make referrals
Refer pregnant patients who are anti-RoiSS-A
positive IDa perinatologist for high-risk obstetric ID infants with the neonatal lupus syndrome and ID other healthcare providers as appropriate.
care. should be followed by a perina!Diagist. Note: Grade A recommendation for use in dry eye
of any etiology, wiltl a large fraction having Sjiigren's
COMPLEMENTARY ALTERNATIVE syndrome. Grade B recommendation for use in dry eye
THERAPIES due to SJOgren's speclflcally.
According to some studies. aw pu ndure may provide
reliE!f of meumatic and/or sicca symptoms.
Puncta! occlusion or cautery
Lateral tarsonhaphy in severe cases
Initial StabilizetiotJ
Inpatient admission usually unnecessary except for
severe systemic disease.
641
SOlAR RETINOPATHY
Gary Shienbaum
Imaging
Fluorescein angiography:
DESCRIPTION HISTORY -Variable; may be unremarkable; window defects
Phototoxicity of the retinal pigment epithelium (RPE) Unprotected solar eclipse viewing, sun gazing O.e.,
seen later in disease course.
and photoreceptor layers in the fovea due to exposure related to religious rituals. psychiatric illnesses,
hallucinogenic drugs), sunbathing, vocational Optical coherence tomography:
to sunlight. -Acute findings:
exposure (e.g., aviation, military service, astronomy)
EPIDEMIOLOGY o Hyporeflectivity at the level of the
Decreased visual acuity, central/paracentral
Incidence RPEfphotoreceptor layer
scotomata, dyschromatopsia, and metamorphopsia
Uncommon, but clusters of cases appear around o Associated hyperrefiectivity of the injured
can occur following prolonged sun exposure.
eclipses neurosensory retina has been described.
Typically bilateral - Chronic/late findings:
RISK FACTORS PHYSICAL EXAM o Central defect (hyporeflectivity) at the level of
Eclipse watching, sun gazing, sunbathing Early: the photoreceptor inner segment-outer
Emmetropia/low hypermetropia, aphakia - Yellow-white spot in the fovea segment junction
Vocation (e.g., aviation, military [e.g., aircraft o Can have surrounding granular gray o Foveal atrophy
reconnaissance!. astronomy) pigmentation. Pathological Findings
Photosensitizing medications (e.g., tetracyclines), Late: Concentrated in foveal and parafoveal regions
mydriatic;, hallucinogenic drugs (e.g., l5D) -The acute findings resolve in several weeks. In the - Photoreceptors: swelling of outer segments.
GENERAL PREVENTION chronic stage, there is a variable appearance to fragmentation of lamellae, mitochondrial swelling
Protective shading (e.g., hats, visors, filtering the fovea (ranging from a normal appearance to a within the inner segments. nuclear pyknosis. and
lenses/sunglasses) pigmentary disturbance or a pseudolamellar hole atrophy have been described.
appearance). - RPE: irregular pigmentation/depigmentation and
PATHOPHYSIOLOGY -A red, sharply demarcated, cystlilr.e lesion may atrophy can occur.
Photochemical damage: resulting from the persist.
nonthermal effects of visible spectrum short - Eyes with better initial visual acuities are more DIFFERENTIAL DIAGNOSIS
wavelength (i.e., blue) light and ultraviolet radiation lilr.ely to have unremarkable funduscopic Macular hole
to the RPE and photoreceptor layers. examinations at follow-up. Idiopathic macular telangiectasia type 2
Sun exposure is thought to cause thermal damage. Cone dystrophy
Light absorption by the RPE results in a rise in Age-related macular degeneration
temperature of the surrounding tissues. The
exposure also causes formation of reactive oxygen
species.
ETIOLOGY
See "Risk. Factors" and "Pathophysiology.
642
SOLAR RETINOPATliY
REFERENCES
. TREATMENT . CODES
1. Yannuzzi LA. Fisher YL, Krueger A, et al. Solar
None retinopathy: A photobiological and geophysical ICD9
analysis. TnmsAm Ophtha/mol Sac 1987;85: 363.31 Solar retinopathy
12D-158.
ONGOING CARE 2. Hope--Ross MW, Mahon GJ, Gardiner TA. et al.
FOLlOW-UP RECOMMENDA110NS Ultrastructural findings In solar retinopathy. Eye CLINICAL PEARLS
Monthly for the first few months, then as needed. 1993;7:29-33.
Solar retinopathy can occur after prolonged sun
3. Garg SJ, Martidis A, Nelson MI... et al. Optical exposure. and commonly dusters around naturaI
PA11ENT EDUCATION roherence tomography of chronic solar retinopathy.
See General Prevention." phenomenon such as eclipses.
I
Am J Ophthalmo/2004;137:351-354.
Most patients retain good vision over time.
PROGNOSIS 4. Wu J, Seregard S, Algvere PV. Photochemical
Eyes with better visual acuities on initial damage of the retina. SutV Ophrha/mol 2006; 51 :
l!lilmination tend to I'MlYI!r more vision. 461-481.
CentraVparacentraI srotomata can persist, despite 5. Jain A, Desai RU, Charalel RA. et al. Solar
improvement in visual acuity. retinopathy: Comparison of optical coherence
Long-term slg nlflcant reduction In visual acuity Is tomography (OCT} and fluorescein angiography
rare. (FA). RerJna 2009;29:134D-1345.
643
STARGARDT DISEASE
Christopher J. Brady
The ABCR gene codes for an ATP-binding cassette
known as Rim protein (RmP) involved in vitamin A
Lab
Genetic testing is generally not performed for this
DESCRIPTION metabolism. condition given the large size of the ABCR gene and
The most common form of juvenile macular Vitamin A is used by rod and cone photoreceptors in the diversity of known mutations.
degeneration the outer retina. Diagnostic Procedures/Other
Causes vision loss in the first or second decade of life It is thought thatABCR mutations interfere with Intravenous fluorescein angiography (IV FA) often
"Fundus flavimaculatus is the descriptive term transport of vitamin A between the photoreceptors reveals a "dark choroid." in which retinal blood
given to the retinal appearance often found with and underlying retinal pigment epithelium (RPE). vessels are highlighted against a hypofluorescent
this condition. The term is usually synonymous with Leads to a build-up of lipofuscin in RPE cells. background due to the accumulation of lipofuscin
Stargardt disease, although some authors reserve The disease affects the macula and fovea the RPE cells. This sign is highly specific for this
this term for only those patients with the classic preferentially due to the high concentration of condition, but the absence of this sign does not
retinal appearance or patients with later onset photoreceptors in the area of central fixation. exclude the diagnosis.
disease.
Fundus autofluorescence photography often reveals
EPIDEMIOLOGY
Prevalence
~ DIAGNOSIS hypoautofluorescence at the level of fovea
corresponding to RPE atrophy. This is usually
1/8,000-1(1 0,000 HISTORY surrounded by small flecks of hyperautofluorescence,
Patients describe slowly progressive vision loss. There which may outnumber those flecks seen clinically.
RISK FACTORS
may be affected siblings, although strong family history IVFA may also reveal hyperfluorescent flecks
Usually autosomal recessive
is uncommon given autosomal recessive inheritance. corresponding to RPE atrophy, which may become
Classic disease linked to mutations in ABCR (also confluent in advanced disease.
calledABCA4) on chromosome 1p13-p21. PHYSICAL EXAM Full-field ERG (electroretinogram) is usually normal
More than 400 sequence variations have been The fundus exam may appear completely normal. but the photopic (bright-adapted) ERG may be
described. For this reason, some patients are suspected of slightly abnormal. Multifocal ERG may show
Mutations in this gene are also linked to autosomal malingering. decreased amplitudes corresponding to central
recessive cone-rod dystrophy and retinitis Typical retinal changes are usually bilateral and vision.
pigmentosa. include the following: EOG (electrooculogram) may be slightly abnormal in
Autosomal dominant Stargardt-like diseases caused - Nonspecific foveal RPE mottling, which may take advanced cases.
by mutations on chromosomes 13q, 6q, and 4p. on a beaten bronze appearance.
- Ill-defined, yellow-white deep retinal "flecks" at Pathological Findings
GENERAL PREVENTION the level of the RPE, referred to as "pisciform for light microscopy reveals a loss of photoreceptors
Genetic counseling may be of value to some families, their fish-like shape. and RPE cells.
but there are no strategies for prevention. - More advanced disease may have an atrophic RPE cells in the posterior pole are also irregular in
macula with a bull's eye or geographic atrophy size and shape with intracytoplasmic PAS-positive
appearance. granules of lipofuscin.
644
STARGARDT DISEASE
DIFFERENTlAL DIAGNOSIS 3. Walia S, Fishman GA. Natural history of phenotypic

Fundus alblpunctatus: flecks In the mldperlpheral ONGOING CARE changes In Stargardt mawlar dystrophy.
retina, nonprogressive congenital night blindness Ophthalmic Genet 2009;30:63-68.
Retinitis punctata albescens: similar appearance to FOLLOW-UP RECOMMENDATIONS 4. Westerfeld c. Mukai S. Stargardt's disease and the
fundus albipunctatus with severe, progressive vision Ophthalmologic exams ABCR gene. Semin Ofilthalmoi2008;23:5H5.
loss Lowvision
Drusen: Small yellow-white spots in macula. Usually Services for the blind
develop later in life. Hyperfluorescent on IVFA. Fundus autofluorescence photography may be of . CODES
Cone or cone-rod dystrophy: Can present with value In assessing disease activity.
bull's eye mawlopathy. Significant color vision PATIENT EDUCATION ICD9
loss. abnormal ERG. http://www.macular.org/stargardts.html 362.75 Other dystrophies primarily involving the
I
Chloroqulnelhydroxychloroqulne toxlctty: Can http://www.lowvlslon.org/stargardts.htm sensCI)' retina
present with "bull's eye maculopathy 362.76 Dystrophies p~marlly lnvoMng the retinal
Batten disease and Spielmeyer-Vogt syndrome: PROGNOSIS pigment epithelium
Autosomal rece5Sive lysosomaI storage disease. Can Stargardt disease is a chronic disease with poor
produce "bull's ~ maculopathy. visuaI prognosis.
Functional vision loss: Normal exam and testing. Once visual acuity drops below 20/40 it tends to CLINICAL PEARLS
Spedal techniques can unmask better vision than decrease rapidly, then stabilize near 201200.
claimed. Most common juvenile macular dystrophy
COMPLICATIONS
Central vision loss Autosomal recessive inheritance
Vision usually stabilizes around 20/400
. TREATMENT No treatments available, potential gene therapy In
REFERENCES the future
MEDICATION
There are no treatments for thIs disease. Low Ylslon 1. Boon a, Jeroen Klevering B, Keunen JE, et al. Low vision referra I of value
referral may be of great vaIue. uv protection is Fundus autofluorescence Imaging of retinal
generally recommended. dystrophies. Vision Res 2008;48:2569-2577.
As the gf!lletics are further understood, this disease 2. Koenekoop RK. The gene for Stargardt disease,
may be amenable to gene therapy. ABCA4, Is a major retinal gene: a mini-review.
Ophthalmic Genet 2003;24:75-80.
645
STEROID-INDUCED GLAUCOMA
Robert J. Goulet, Ill
Anand Mantravadi
~ BASICS
No clear genetic component lOP elevated from baseline
Myocilin may be overexpressed by meshwork cells If asymmetric optic nerve damage exists, there may
DESCRIPTION when exposed to steroids and myocilin gene be a relative afferent pupillary defect
Steroidinduced glaucoma is a secondary open-angle mutations have been associated with juvenile and Slit lamp exam will likely be within normal limits or
glaucoma that results after the use of local or systemic adult-onset glaucomas. no change from patient baseline
corticosteroids. Intraocular pressure (lOP) increase Gonioscopy will be consistent with patient baseline
results from decreased aqueous humor outflow GENERAL PREVENTION
Be aware of those populations at risk. Examination of the optic nerve may show evidence
facility. Glaucomatous optic neuropathy can then
Limit exposure to necessary corticosteroids. of typical glaucomatous damage (diffuse narrowing
develop from this ocular hypertension.
Use formulations less likely to cause lOP rise. of the neuroretinal rim, focal notches, disc
EPIDEMIOLOGY hemorrhage). Prior glaucomatous damage makes
lnddence PATHOPHYSIOLOGY the nerve more susceptible to further damage at
Incidence of lOP rise varies with route of Decreased aqueous humor outflow facility lower lOP increases for shorter durations.
administration, formulation of medication, and total Possible architectural changes of the trabecular
meshwork (i.e., actin crosslinking)
cumulative dose.
Possible deposition of material in the trabecular Imaging
5% of people treated with topical steroids for Optic nerve head imaging (i.e., confocal scanning laser
4--6 weeks show an lOP rise of ~ 16 mm Hg, 30% meshwork (i.e., glycosaminoglycans)
ophthalmoscopy) or retinal nerve fiber layer imaging
show an lOP rise of6-15 mm Hg Possible decreased phagocytic function of trabecular
(optical coherence tomography or scanning laser
lntravitreal > periocular > topical > systemic meshwork cells with decreased ability to remove polarimetry) may be used in conjunction with optic
lntravitreal triamcinolone acetonide (4 mg}- material accumulated in the meshwork nerve exam to evaluate for glaucomatous damage.
14.6-44.6% ETIOLOGY Diagnostic Procedures/Other
Prednisolone acetate (1 %}-6.7% Unknown Standardized visual fields should be obtained to
Loteprednol etabonate (0.2 and 0.5%}-1.7% assess for evidence of glaucomatous functional
Case reports with inhaled, intravenous, oral, and Any requiring use of corticosteroids deficits.
topical corticosteroid use Pachymetry
Prevalence
Unknown ~ DIAGNOSIS Pathological Findings
None
RISK FACTORS HISTORY DIFFERENTIAL DIAGNOSIS
Diagnosis of primary open-angle glaucoma Patient being treated with topical or systemic Primary open-angle glaucoma
First-degree relative with primary open-angle corticosteroids. Do not forget to inquire about
Uveitic glaucoma
glaucoma depositions (intravitreal, periocular) or inhalational,
High baseline lOP intranasal, or dermatologic formulations. Attempt to
Traumatic angle recession identify those patients that are at higher risk of
High myopia developing elevated lOP with steroid use.
Connective tissue disease Presentation may be within 1 week of initiating
therapy but may be delayed up to years later.
Type 1 diabetes mellitus
Typical time to presentation for ophthalmic drop
Children
formulations is 3-8 weeks
Elderly
646
mRDID-INDUCED GLAUCOMA
ADDmONAL TREATMENT PAnENT EDUCATION

. TREATMENT Addlflonel Therep/H Patients should be counseled on their risk of I0Prise
Selective laser trabecu loplasty (S Ln may be effective In and the potential of Irreversible vtslon loss via optic
MEDICATION some patients. One must consider the potl!ntial for nerve damage before Implementation of therapy.
RrstLine lOP rise after SIJ and the urgency in which the PROGNOSIS
Cessation of steroids if possible. Tapering to a lower patient's lOP must be lowered. Prognosis depends on level of lOP rise and amount of
dose can ultlmatl!ly resu It In reduction In pressure. SURGERY/OTHER PROCEDURES optic nerve damage. With regular monitoring and
Beta-adrenergic antagonists (topicaO Trabeculectomy with antlflbrotlc agents approp~ately aggressive therapy, loss of visual
-limolol maleatl! 0.25-{).5'11., one drop daily or (m ltomycln C) function can frequently be awided.
b.i.d. Aqueous drainage device implantation (Baerveldt
- Betaxolol 0.25'11., one drop b.i.d. COMPLICA110N5
shunt, Ahmed valve. Molteno implant. ett.) VISual f~eld ronstriction
I
Alpha2-adrenergic agonlsts ~oplcal)
- Brimonidine tartrate 0.1 5'11., one drop b.i.d. or VISion loss
t.i.d. ONGOING CARE
Carbonit anhydrase inhibitors (topicaO REFERENCES
- Dorzolamide 2.0%, one drop b.i.d. or t.i.d. FOLLOW-UP RECOMMENDATIONS
- Brinzolamide 1'11., one drop b.i.d. ort.i.d. Patients should be followed closely after the 1. Spaeth GL. de Barros M, Fudem berg 5.Retina
Prostaglandin analogueslprostamldes (toplcaO administration of steroids, espedally those receMng 2009;29(8):1OS7-1 061.
- L.atanoprost 0.005%, one drop qHS intravitreaI, periocular, and topical formulations. 2. Jones RIll, Rhee D.CuiT Opn Ophthalmology
- Travoprost 0.004%, one drop qHS Appropriate follow-up has been suggested to be 2006;17(2):163-167.
- Bimatoprnst 0.03%, one drop qHS 2 weeks aftl!r steroids are administl!red. Patients 3. Stamper R. Lieberman M, Drake M.BerkerShilffels
determined to be at higher risk should be examined
Combinations (topical) diagnosis and thera111 of the flauromas. 27D-2 71 .
- Dorzolamldeltlmolol maleatl! 2%/0.5%, one drop sooner and more often (after 1, 4, and 8 weeks).
b.i.d. Generally, lowering lOP below 30 mm Hg is a
- Brimonidine tartrateltimolol maleatl! 2%/0.5%, reasonable goal for individuals without optic nerve
damage. . CODES
one drop b.i.d.
Preexisting or newly diagnosed glauromatous
Second Line damage to the optic nerve warrants more aggressive ICD9
Carbonic anhydrase Inhibitors (systemic) treatment. In general, lOP should be maintained at 365.31 Cortirosteroidinduted glaucoma,
-Acetazolamide 125-250 mg po b.l.d. to q.l.d. or below target lOP as determined in glaucoma glaucoma!Dus stage
-Acetazolamide sequels 500 mg po b.i.d. patients before starting steroids.
-Acetazolamide (parenteral) SOD mg IV once daily
or 5-1 0 mglkg q6-8h Patient Monitoring
- Methazolamide SD--100 mg po b.i.d. to t.i.d. Serial examinations in which visual function, lOP,
Hyperosmotlc agents and op'tlc nerve are evaIuated
-Mannitol 20% solution, 0.5-2 mg/kg IV infused Repeat visual fieIds as necessary
over 3D-60 minutes (20% solution has 20 g per
100 ml)
647
smtENS-JOHNSON SYNDROME
Bhairavi V. Kharod
~ BASICS Certain lymphomas and carcinomas have also been

reported to be tile inciting factors for SJS.
HIV and EBV testing should be done in patients
suspected of these diseases.
In some studies, herbal supplements containing CBC count and workup of malignancy should be
DESCRIPTION ginseng have been shown to cause SJS as a rare side performed.
Stevens-Johnson syndrome (SJS) was first described effect. Others report cocaine as a possible cause. A tissue biopsy is performed in many cases.
in 1922.
SJS is a rare life-threatening immune COMMONLY ASSOCIATED CONDITIONS Imaging
complex-mediated hypersensitivity reaction in SJS can involve the mucous membrane and skin of Imaging is rarely required, except in cases where a
which the skin and mucous membranes are severely multiple organs. Significant involvement of ocular, malignancy is suspected.
affected. nasal, oral, vaginal, urethral, gastrointestinal, and Pathological Findings
respiratory tract mucous membranes can occur over Biopsy specimens typically show full thickness
SJS is often referred to as erythema multiforme
the course of the disease. Necrosis of mucous necrosis of epidermis and minimal dermal
major or bullous erythema multiforme.
membranes, especially respiratory and gastrointestinal inflammatory cell infiltration. The dermal infiltrate is
EPIDEMIOLOGY membranes, may occur over the course of the disease. superficial and mostly perivascular.
lnddence This can lead to significant morbidity and may lead to
Histologic clhanges in the epidermal~ermal junction
The reported annual incidence of SJS is death.
range from vacuolar alteration to subepidermal
approximately 3 cases per million persons per year.
~ DIAGNOSIS
blisters.
In the US, approximately 300 new cases of SJS are Apoptosis of keratinocytes is also observed.
reported each year.
HISTORY DIFFERENTIAL DIAGNOSIS
Prevalence Erythema multiforme minor (involvement of skin
The prevalence of SJS is reported to be less than SJS often begins witll flu-like symptoms. Patients
may often experience fever, malaise, cough, sore only. SJS, or erythema multiforme major, is defined
200,000 persons in tile US population. as involvement of both skin and mucous
throat, headache, and burning eyes for a few days.
RISK FACTORS Mucocutaneous lesions develop abruptly. membranes. SJS is often referred to as bullous
lmmunocompromised status, including Patients with oral involvement may complain of erythema multiforme.)
malignancies, chronic viral infections with severe pain that leads to inability to eat or drink. Drug rash
Epsteirt-Barr virus (EBV) and HIV. systemic lupus Patients with genitourinary tract involvement may Thermal burns
erythematosus, and other chronic rheumatologic present with dysuria or inability to void. Paraneoplastic pemphigus
diseases are considered risk. factors. Toxic shock syndrome
Radiation therapy and ultraviolet (UV) light are also PHYSICAL EXAM
Ophthalmic findings: Ocular cicatricial pemphigoid
considered possible risk factors.
- Conjunctivitis of the eyes is reported in Toxic epidermal necrolysis (TEN) (SJS and TEN are
Previous history of SJS is considered a risk factor for considered similar except for their distribution. SJS is
further episodes. approximately 30%.
- Conjunctival scarring, including symblepharon defined as < 10% of body surface area involvement.
Genetics formation may occur. TEN is defined by > 30% of body surface area
Certain HlA subtypes are currently being researched - Pseudomembranes may form on palpebral involvement. Involvement of 15-30% of body
for possible associations with SJS. In some studies, conjunctiva. surface area is considered SJ5-TEN overlap.)
HlA-812 has been shown to increase susceptibility to
SJS.
GENERAL PREVENTION
Early diagnosis, treatment, and supportive therapy are
-Dry eyes and trichiasis are chronic sequelae.
- Corneal neovascularization, corneal scarring,
anterior uveitis, panuveitis, and severe visual
impairment may occur.
rJ TREATMENT
MEDICATION
essential to prevent life-threatening complications and Systemic findings: First Line
permanent damage from SJS. - Patients may often get tongue and facial swelling.
SJS is a dermatologic emergency that requires
- Oral ulcers are common, but ulcers of genital and hospitalization, often in an intensive care unit or
PATHOPHYSIOLOGY anal areas may also occur.
SJS is an immune complex-mediated bum unit.
- Skin involvement may start with hives and pain. A
hypersensitivity reaction. Often the first and most important step in treating
red or purple sk.in nonpruritic rash develops and
Cell death causes separation of tile epidermis from SJS is to discontinue any offending medications.
spreads within hours to days. Papules, vesicles, or
the dermis. bullae may form leading to sloughing of the Supportive care is a crucial part of treating SJS.
epidermis. The typical skin lesion of SJS is target Because skin loss can lead to significant loss of body
EnOLOGY fluid, fluid replacement is essential. A nasogastric
Although the cause of SJS may not be determined in shaped. Most commonly affected areas are the
palms, soles, dorsum of the hands, and extensor tube may be needed for enteral feedings.
some case, it is most often a response to
surfaces. Ophthalmic care should include a thorough eye
medication, infection, or illness.
- Denuded skin may develop a secondary infection. exam. If a patient has conjunctivitis,
SJS is idiopathic in approximately 50% of the cases. pseudomembranes, or other ocular surface disease,
The leading cause of SJS is the use of antibiotics and DIAGNOSTIC TESTS & INTERPRETATION topical steroids should be used judiciously.
sulfa drugs. Some of the common medications that Lab Pseudomembranes should be peeled. Symblepharon
cause SJS include allopurinol, diclofenac, Although SJS may often be medication induced, it is should be lysed using a blunt instrument such as a
isotretinoin, fluconazole, penicillins, barbiturates, important to rule out infectious etiologies and glass rod. A symblepharon ring should be placed to
sulfonamides, phenytoin, and azithromycin. malignancies. avoid further symblepharon formation. Oral or
Infectious causes of SJS include herpes simplex virus, Blood and urine cultures should be done in cases intravenous corticosteroids should be considered in
EBV. influenza, mumps, histoplasmosis, and cat where an infectious cause is suspected. patients with ocular disease. Patients with uveitis
scratch fever. Sputum cultures should be done in patients with a should be treated witll steroids.
high index of suspicion for Mycoplasma
pneumoniae.
648
STEYENS-JOHNSON SYNDROME
SecandUne REFERENCES
Skin lesions should be cleaned thoroughly and ONGOING CARE 1. Wetter DA, Camilleri MJ. Clinical, etiologic, and
protected from serondary infections.
Patients with SJS often have severe pain from FOLLOW-UP RECOMMENDAnONS histopathologic features of StM!ns-Johnson
mucxutaneous lesions and should be given Patients have to be monitored very dosely in the syndrome during an &-year period at Mayo Clinic.
adequate pain control. InltlaI stages of SJS. Mayo Clin Proc 201 0;85(2):131-138.
Intravenous steroids are used by many in aOJte SJ S. Patients should be monitored closely by an 2. Soto.zono c, Ueta M, Kinoshita s. Systemic and
I
In cases of recalcitr.mt SJS, intravenous ophthalmologist as symblepharon formation, local management at the onset of Stevens-Johnson
Immunoglobulin has been proposed by some to be trlchlasls, corneal neovascularlzat!on, and scarring syndrome and toxic epidermal necrolysis with
beneftcial. can develop. ocular complications. Am J Ophthalmo/2010;
Cydophosphamide may be used in duonic Patlfmt Monitoring 149(2):354.
conditions. CBC count should be performed wee ldy for the flrst 3. Knowles S, Shear NH. Clinical risk management of
Patients on steroids should be placed on 1-2 months in patients on oral cyclophosphamide Stevens-Johnson syndrome/toxic epidermal
gastrointestinal prophylaxis and should be to evaIuate for leukopenia. necrolysls spectrum. Dermlltol Ther '
considered at risk for bone mass loss. Urinalysis should be performed periodically to 2009;22(5):441-451.
evaluate for hemorrhagic cystitis. 4. Struck MF, Hilbert P, Mockenhaupt M, et al. Severe
ADDITIONAL TliEATMENT rutaneous adverse reactions: emergency approach
GIHNH'al MNsu,.s DIET to non-bum epidermolytic syndromes. Intensive
Early diagnosis and treatment are crucial to Many patients have difficulty swallowing in tile initial Care Med 2010;36(1):22-32. Epub 2009 Sep 29.
decreasing morbidity and mortality in patients with stages of SJSsecondary to Involvement of the
SJS. gastrointestinal tract. Enteral feeding may be required
until the patient can tolerate or.~l feedings.
Patients should be monitored closely to avoid sepsis, . CODES
shade. and organ failure. PATIENT EDUCATION
Issues for Referral Patients should be advised of the indting factor ICD9
Dermatologists and ophthalmologists are consulted (medication, infection, etc.) and should be told to 372.30 Can]unctMt!s, unspecified
for patients with SJS. Specialists are consulted avoid the Inciting factor. 372.64 Scarring of conjunctiva
according to the organs involved. Patients should be informed of tile increased risk of 695.13 Stevens-Johnson syndrome
SJS witll tile use of certain medications.
Initial Stabilization PROGNOSIS
SJS is a medical emergency that can rapidly evolve The mortality in patients with SJS correlates to the CLINICAL PEARLS
into shock and end-organ damageffailure. body surface area involved. If less than 10% of the SJ Sis a mucocutaneous disease that can affect
Treatment should foOJS on eliminating the body surface Is denuded, tile martalily rate Is multiple organs.
under~ing cause, controlling symptllms, and approximately 1-5%. If more than 30% of tile body
surface is denuded, the mortality rate increases to Drugs, especially sulfa drugs, antleplleptlcs, and
minimizing complications. antibiotics, are the most common causes.
more than 25%.
Admission Criteria SJS can CBuse severe momidity and mortality if left
Patients witll SJS can rapidly develop shock and untreated.
end-organ failure and should be monitored very
dosely.
649
mCKLER SYNDROME
Scott E. Olitsky
Erin D. Stahl
~ BASICS
COMMONLY ASSOCIATED CONDITIONS - Intraocular pressure (lOP) measurement and optic
Ocular nerve examination
- Myopia (90%) (2), with or without pathologic - Physical exam with attention to joint dysfunction,
DESCRIPTION myopia abnormal facial features, hearing, clefting of
Constellation of findings including particular vitreous -Vitreous condensation (membranous, beaded, palatefuvu Ia, and heart murmur
abnormalities, high myopia, and retinal detachment
EPIDEMIOLOGY
Incidence
1 in 7,50o-9,000 newborns
veils)
- Optically empty vitreous
- Retinal detachment (60%) (2)
-Glaucoma
rJ TREATMENT
MEDICATION
-Cataract (usually peripheral cortical wedge)
RISK FACTORS - Radial retinal lattice None for the primary disorder but may need
- Rare: retinal degeneration treatment for secondary concerns such as glaucoma
Geneffa
Type 1: STL1 (classic, membranous vitreous) Nonocular Avoid miotics to avoid additional strain on the
- Hearing loss (70%) (2) peripheral vitreoretinal interface.
12q 13.11-13.2, COL2A 1 gene, autosomal
dominant - Facial abnormalities (midline defting, Pierre Robin ADDITIONAL TREATMENT
Type 2: STLl (+f- ocular, beaded vitreous) 1p21, sequence, bifid uvula) (84%) (2) General Measures
COL11A1, autosomal dominant - Mitral valve prolapse Refractive correction, treatment of amblyopia (if
Type 3: STL3 (nonocular) 6p21.3, COL IIA2, -Arthritis, large joints (90%) (2) present), low vision aids if necessary
autosomal dominant - Slender extremities. long fingers, and normal/tall Educate patient on warning signs and symptoms of
height
Autosomal recessive form with ocular involvement. retinal detachment.
6q13, COL9A 1 Every 6 months to yearly full ocular examination
Mutations in COL 11A2 also cause variants:
Weissenbacher-Zweymuller syndrome (neonatal
~ DIAGNOSIS with dilated fundus exam, optic nerve evaluation,
refraction, and lOP measurement
form with distinctive skeletal findings), Marshall HISTORY
Family and patient history of high myopia, retinal SURGERY/OTHER PROCEDURES
syndrome (short stature, hearing loss),
Surgical repair of retinal detachment-retinal
MarshallfStickler detachment. arthritis. deft palate. hearing loss
detachment may reveal multiple severe retinal
GENERAL PREVENTION PHYSICAL EXAM breaks, prompt referral to retinal specialist is
Genetic counseling andfor prenatal testing Full ocular examination including attention to necessary.
(if mutation in family known) vitreous abnormalities at slit lamp (veils [best by Prophylactic retinopexy, if indicated
Fetal facial abnormalities may be detected by indirect ophthalmoscopy]. beading, membranes Cataract extraction-NOTE: elevated risk for
ultrasound in the second trimester (1). optical clarity) postoperative retinal detachment
- Cycloplegic refraction Medical/surgical treatment of glaucoma
PATHOPHYSIOLOGY - Peripheral retinal examination looking for
Defect in collagen biosynthesis collagen types 2, 9, perivascular lattice-like degeneration and retinal
and 11 expressed in vitreous. COL2A I mutations must breaks
involve exon 2 for eye involvement as this exon is not
incorporated in nonocular tissues.
650
STICKLER SYNDROME
PROGNOSIS ADDITlONAL READING

ONGOING CARE Risk for retinal detachment Is grealer than 50%.
Morbidity most common from visual dysfunction, http://ghr.nlm.nih.gov/condition = stiddersyndrome.
FOU.OW-UP RECOMMENDA110NS 4% blind (1)
Educate patient on the need for routine (every 6 Visual acuity depends on inddence of retinal
mcnlt1s to yearly) ophtflalmologic examination to detachment and success in surgical management. . CODES
detect retinal breaks.
Decreased visuaI acuity may also occur due to
Prompt evaIuatlon should S)Tllptoms of Impending refractive amblyopia If refractive error Is not ICD9
retinal detachment oo:ur (floaters.. photopsia, vision CDITected. 367. 1 Myopia
changes) 379.29 Other disorders ofvitreaus
- Genetics ronsult COMPUCAllONS
Retinal detachment 759.89 Other specified congenital anomalies
- MaxillofadaI assessment for midline defting if
I
suspected Glaucoma
- Rheumatology ronsult If ]oint disease present Cataract
-Audiology fer hearing testing
CLINICAL PEARLS
- Examine parents/siblings (3) High risk for retinal detachment
PA11ENT EDUCATION
REFERENCES Consider genetics consult and counseling.
Educate on the signs and svmptoms of retinal 1. Palice DW. Stickler syndrome: clinical care and ExamIne parents/siblings for vltreoretlnal
detachment and the need for prompt examInation If molecular genetics. Am l OfiJthalmo/ 2002; 134(5): abnormalities.
these oo:ur. 746-748. Educate patient and family on signs and svmptoms
Some ophthalmologists may rerommend avoidance 2. Stickler GB, Hughes W, Houchin P. Clinical features of retinal detachment.
of direct contact sports such as boxing and wrestling of hereditary progressive arthro-ophthalmology Stress importance of regular ocular I!Xllmination.
to reduce the risk of retinal detachment (no clear (Stickler syndrome): a survey. Genetics Med
data, practice patterns val)'). 2001;3(3):192-196.
Consider recommendation against refractive surgery 3. Snead MP, Yates JR. Clinical and molecular
as tissue response is unknown and may have thinner genetics of Stickler syndrome. l Mol Genet
central romea thickness. 1999;36:353-3S9.
May benefrt from protective eyewear when
engaging in other sports
Genetic counseling
Family support networlt http:/IMYw.stldders.
org/sip2
651
STURGE-WEBER SYNDROME
Jason Hsu
~ BASICS
-Glaucoma (up to 70% of patients) ipsilateral to Ultrasonography: 8-scan mode shows generalized
facial nevus flammeus especially when eyelids are choroidal thickening; A-scan demonstrates high
involved may result from elevated episcleral internal reflectivity.
DESCRIPTION venous pressure, angle malformation, or both. Pathological Findings
Sturge--Weber syndrome (SWS), also called - Buphthalmos may result in cases of congenital Facial nevus flammeus: dilated telangiectatic
encephalotrigeminal angiomatosis, is a congenital glaucoma. cutaneous capillaries in the dermis lined by single
dermato-oculo-neural syndrome. -Iris heterochromia layer of endothelial cells
- Cutaneous nevus flammeus in distribution of -Anisometropic amblyopia
trigeminal nerve branches Diffuse choroidal hemangioma:
Cutaneous features: -Cavernous vascular channels lined by mature
- Ipsilateral glaucoma and diffuse choroidal -Facial nevus flammeus ("port-wine stain"):
hemangioma may occur. endothelial cells and supported by thin
unilateral flat to thickened zone of dilated intervascular fibrous septa
- Ipsilateral meningeal hemangiomatosis telangiectatic cutaneous capillaries appearing - May contain small, capillary-type vessels
EPIDEMIOLOGY light pink to deep purple in coloration -Terminate indistinctly in periphery without sharp
Frequency is estimated at 1 in 50,000 live births - Involves region innervated by first branch (most margins
No apparent gender or racial predilection common), first and second branches. or all three - Fibrous transformation of retinal pigment
branches (least common) of trigeminal nerve epithelium and calcification may occur.
RISK FACTORS - Localized hypertrophy of ipsilateral nasal and - Sensory retina overlying hemangioma often
Genetics buccal mucosa may occur. thickened and cystic
Typically sporadic with no genetic inheritance CNS features:
pattern -Ipsilateral leptomeningeal hemangiomatosis DIFFERENTIAL DIAGNOSIS
Rare familial clusters reported but inheritance - May be associated with cortical atrophy, seizures Klippei-Trenaunay-Weber syndrome: characteristics
pattern unclear (80% of patients), recurrent stroke-like episodes, of SWS plus port-wine stains of extremities and
and developmental delay hemihypertrophy of soft and bony tissues
EnOLOGY - Recurrent headaches (30-50% of patients), Beckwith-Wiedemann syndrome: facial port-wine
Embryonal developmental anomaly due to errors in contralateral hemiparesis. hemiplegia, and stain, macroglossia, omphalocele, visceral
mesodermal and ectodermal development hemianopsia may also occur. hyperplasia with severe hypoglycemia due to
pancreatic islet cell hyperplasia
~ DIAGNOSIS
MRI (preferred modality) or CT scans of the brain
Ophthalmic features: may be used to detect leptomeningeal
- Diffuse choroidal hemangioma (50% of patients)
hemangiomatosis. which is present from birth.
ipsilateral to facial nevus flammeus characterized -Granular calcification of parenchymal brain tissue
by a much more saturated reddish appearance adjacent to cortical atrophy can often be seen on
compared with contralateral eye ("tomato-catsup
CTscan.
fundus")
- Retinal vascular tortuosity and serous retinal
detachment may occur.
-Telangiectasia of conjunctival and episcleral
vessels
652
STURGE-WEBER SYNDROME

. TREATMENT Subtotal hemispherectomy has been perfonned for
Intractable seizures or progressive mental o Oakes WJ. The natural history of patients with the
FadaI news flammeus: derm atologic deterioration. Sb.uge-Weber syndrome. Pediatr Neurosurg
vascula r-spedfic pulsed-dye laser therapy Trabeculectomy, aqueous tube shunt procedure. 1992;18:287-290.
Diffuse dloroidal hemangioma: treatment usually goniolllmy, trabeculotomy, laser trabeculoplasty, or Patrlanakos TD, Nagao K. Walton OS. Surg leal
considered when assodated with mawlar edema or cydodestructive procedures may be necessary to management of glaucoma with the Sturge-Weber
rna nage glaucoma If topical therapy !s Inadequate. ~drome./nt Of/Jtha/mo/ Gin 2008;48:63-78.
ser~ retinal detachment
- Photodynamic thempy Strabismus surge!)' as needed following completion o Singh AD, Kaiser PK. Sears JE. Choroidal
- Low-dose radiation therapy (external beam, of amblyopia therapy. hemangioma. Of/Jtha/mo/ Clin N Am 2005; 18:
proton beam, plaque radiotherapy, gamma knife 151-161 .
SUllivan TJ. Clarke MP, Morin JD.lhe owlar
I
radiotherapy, stereotactic radiotherapy)
Glaucoma: topical drops ONGOING CARE manifestations of lhe Sturge-weber syndrome.
-First line: beta-bloder J Pediatr Of/Jtha/mo/ Strabismus I992; 29:
- Second line: carbonic anhydrase inhibitor 349-356.
o Op11thalmologist
- 1hird line: prostaglandin analog o Neurologist
- If medicaI therapy fails. see Surgery/Other
Neurosurgeon If Intractable selzu res . CODES
Procedures
Dermatologist
CNS manifestations:
- Seizures treated with anticonvulsants Patient M011ltorlng ICD9
- Aspirin may be benefidaI in patierrts with See Follow-up o 228.09 Hemangioma of ather sites
rea.urem stroke-like episodes PATIENT EDUCATION 362. 17 Other lntraret!naI mlcrovascular
o Use with caution in d1 ildren as aspirin use is Sturge-Weber Foundation (hnp:flwww.sturge- abnormalities
assodated with Reye ~drome weber.org) 759.6 Other congenital hamartoses. not elsewhere
o Va~cella and annual Influenza Immunizations classified
Sturge-Weber Syndrome Community (http:/fwww.
recommended to lower risk of Reye syndrome swscom munity.org)
General AfeasUI'eS Ufe expectancy appears to be significantly reduced
Address refractive error with glasses or contact lens. especially in patients with profound mental SUspect glaucoma v.t.en the portwine stain involves
Treat amblyopia, which is typically anisometropic retardation and intractable seizures compared with the eyelids.
due to glaucoma-!nduced myopia. those with more Iimited disease. Neuroimaging should be performed especially in
patients with choroidal hemangiomas since
COMPUCATIONS leptomeningeal hemangiomas are almost always
Visual loss due to amblyopia, glaucoma, or serous present in these cases.
retinal detachment
Progressive mental deterioration
o Seizures
&53
SUBCONJUNCTIVAL HEMORRHAGE
Steven J. Kanoff
~ BASICS
DESCRIPTION
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
Blood that is under the conjunctiva. This can be Patient or bystander usually notes red eye. The patient None.
spontaneous, associated with incidental trauma or presents with a painless red eye unless associated
obvious trauma, or recurrent, which may be associated with trauma. Question the patient about nose bleeds, ADDITIONAL TREATMENT
with underlying systemic disease. spontaneousleasy bruising. General Measures
Reassurance that hemorrhage will clear usually by
RISK FACTORS PHYSICAL EXAM
2week.s.
Antiplatelet therapy, anticoagulant therapy, Blood under and/or in the conjunctiva. If concerned
hypertension, diabetes mellitus, coughing, sneezing, about associated bleeding problems do a thorough Issues for Refe"al
emesis, straining (constipation), bleeding diathesis retinal examination. Bleeding diathesis
(thrombocytopenia, impaired clotting. coagulopathy), DIAGNOSTIC TESTS & INTERPRETATION
conjunctivitis (viral).
Lab
PATHOPHYSIOLOGY If recurrent subconjunctival hemorrhages consider
Extravasation of blood from conjunctival blood work.up of coagulation system.
vessels. Imaging
EnOLOGY None, unless degree of trauma justifies ttlis
Incidental or obvious trauma, blood dyscrasias, viral Diagnostic Procedures/Other
infection. If associated with trauma, a complete eye examination
COMMONLY ASSOCIATED CONDITIONS is necessary to rule out ocular patl'lology.
Hypertension, diabetes mellitus, blood dyscrasias.
654
SUBCONJUNCTIVAL HEMORRHAGE
Additional Tllfllilplfls COMPUCATlONS

If elevated subc011junttival hemorrhage adjacent to None . CODES
the limbus. use frequent artlflclal tears every 2 h and
lub~catlng ointment at bedtime to try to prevent delle ICD9
formation. ADDITIONAL READING 372.72 ConjunctivaI hemorrhage
American Academy of Ophthalmology Basic and
ONGOING CARE Clinical Science Course. Section 8, 2006-2007,
90-91.
FOLLOW-UP RECOM MENDA110NS Mimura T, Usui T, Yamagami 5, et al. Recent causes
None unless assodated ocular pathology from trauma of subconjunctival hemorrhage. Ophlhalmo/o~ca
or to monitor de lie status 2009;224(3):133-137.
I
PROGNOSIS Ehlers JP. Shah CP, (eds). The WU!s Eye Manual, 5th
Excellent Ed. Philadelphia: JB LippinCDtt Publishet 2008:
112-113.
&55
SUPERIOR LIMBIC KERATOCONJUNCTNITIS [SlX]
Nicole R. Fram
~ BASICS ETIOLOGY
Unknown: Mechanical versus autoimmune
Conjunctiva/sclera: sectoral superior bulbar and
limbal conjunctival injection, redundant superior
conjunctiva, lissamine green/rose bengal staining of
Possibly related to dry eye, autoimmune disease, or
DESCRIPTION superior conjunctivochalasis superior bulbar conjunctiva (keratinization)
Ocular surface disorder is characterized by foreign Female: male 3:1 Cornea: superior punctate epithelial keratitis,
body sensation, pain out of proportion to exam, and Mean age 50 years mucus filaments superiorly
photophobia. The presentation is typically bilateral Remainder of anterior and posterior segment exams
and frequently asymmetrical. Increased incidence in thyroid disease,
hyperparathyroidism, and KCS {3) is typically unremarkable.
Classic signs include superior bulbar conjunctival
staining and injection, redundant superior bulbar COMMONLY ASSOCIATED CONDITIONS DIAGNOSTIC TESTS & INTERPRETATION
conjunctiva, velvety fine papillary reaction of the Thyroid disorder Lab
superior palpebraVtarsal conjunctiva, superior KCS Thyroid function tests
corneal epithelial keratitis, and/or mucous filaments. Filamentary keratitis Consider parathyroid function tests
EPIDEMIOLOGY Diagnostic Procedures/Other
Incidence
About 50-ii5% of patients with superior limbic
~ DIAGNOSIS lissamine green/rose bengal will stain keratinized or
denuded epithelium.
keratoconjunctivitis {SLK) have underlying thyroid HISTORY Demonstrate redundant superior conjunctiva by
disease {1,2) Targeted history onset, duration, location, quality of topically anesthetizing the eye, having the patient
symptoms, and associated conditions. History of look down and slide the superior conjunctiva with a
RISK FACTORS cotton tip applicator onto the superior cornea. This
thyroid disease, KCS, and contact lens wear
Keratoconjunctivitis sicca {KCS) should not be feasible in a normal eye.
Thyroid disease PHYSICAL EXAM
External exam: look for symptoms of thyroid eye Pathological Findings
Cosmetic contact lenses induced (Cl-SLK)
disease and inflammatory ptosis Keratinized conjunctival epithelium with
Thimerosal polymorphonuclear leukocytes (PMNs)
Decreased Schirmer's test, decreased tear lake,
Genetics increased mucus production in advanced cases Palpebral/tarsal conjunctival cells with lymphocytes
No familial association and plasma cells on Giemsa scrapings
Eyelids: tight upper lids. eversion of upper lid
PATHOPHYSIOLOGY velvety fine papillary reaction of palpebral/tarsal
Chronic and recurrent clinical course conjunctiva
656
SUPERIOR LIMBIC KERATOCONJUNCTIYITIS (SUO
DIFFERENTlAL DIAGNOSIS COMPLEMENTARY & ALTERNATIVE REFERENCES

Allergic THERAPIES
- Seasonal allergic con]unctlvhls Filamentary keratitis may respond to 1. Kadrmas EF, Banley GB. Superior limbic
- vemaI keratoconjunctivitis N-acelylcystei ne 10% topically or temporary keratoconjunctivitis. A prognostic sign for severe
- Atopic kercrtoconjunctivitis bandage contact lens. Graves ophthalmopathy. O{iltha/mo/ogy
-Giant papillary keratoconjunctivitis (GPC) Topical cydosporine A (0.5%) (5} 1995;102:1472-1475.
Contact lens-fl!lall!d ki!rcrtoconjunctivitis Topical vitamin A (retinol palmitate) 2. Shen Y-C, wang CY, Tsal HY, e1 aL Supratarsal
KCS Topical steroids triamcinolone InJection In the treatment of superior
Filamentilry keratitis limbic keratoconjunctivitis. Cornea 2007;26(4):
Mast cell stabilizing drops 423-426.
Murus fishing syndrome Autologous serum 3. Theodore FH. Comments on findings a! elevated
Topical medication toxicity Punetill ocdusion protein-bound iodine in superior limbic
fl
I
SURGERY/OTHER PROCEDURES keratoconJunctivitis: I. Arch O{iltha/mol
TREATMENT Thermocauter12atlon 1968;79:508.
Supratarsal triamdnolone injection (3 mg/0.3 ) 4. Sun YC, Hsiao CH, Chen WL e1 al. Conjunctival
MEDICATION with 27 gauge needle (2} resection combined with tenon layer excision and
FlmLine the involvement a! mast cells in superior Iimbic
Silver nitrate ().5-1 %solution to anesthetized ALERT kl!ratocon)unctlvltls. Am 1 Ophtha/mo/2008;
superior palpebral and bulbar conjunctiva. Irrigate watch for intraocular pressure (lOP) elevation with 145:445-452.
ocular surface thoroughly aftl!r 1 minute to supratarsaltriamcinolone injection. Contraindicall!d s. Perry HD, Doshi-Carnevale S, Donnenfeld ED, et al.
neutralize the sliver nltrall! exposure. in patients with gIaucoma. Topical cyclosporine A O.S'llo as a possible new
Can repeat In 4-6 weel:s If necessary treatment for superior Iimbic keratoconjunctivitis.
O{ilthalmology 2003;1t 0: 1578-1 581 .
ALERT $ ONGOING CARE
Do not use sliver nltrate sticks or solid applicators,
as this can result in a severe chemical damage to FOLLOW-UP RECOMMENDATIONS ADDI110NAL READING
the cornea and sdera. ,.,tient Monitoring Q S11 AIID (Tapic, Al1arithm, Electronic
MoniiDI' lOP if patient is maintilined on topical
steroids or has received suprati!rsal triamd nolone ~ Media Ele11en0
SecondUne
Surgiccll removal of superior conjunctiva and Tenon's injection. Conjunctivitis
capsule from 1() o'dock to 2 o'clock and extending MoniiDI' for chemical injury or stem cell dysfunction
bade. from the limbus 5--8 mm. No need to cover or aftl!r sliver nitrate treatment.
suture conjunctiva (4). . CODES
PROGNOSIS
Disease is characterized by frequent remission and
exacerbations.. ICD9
370.40 KeratoconjunctMtis, unspedlied
370.49 Other keratoconjunctivitis. unspecified
CLINICAL PEARLS
sue. triad: Redundant superior bulbar conjunctiva
with sectoral staining, "velvety" flne papillary
superior tarsal con)unctllla, superior corneal
filaments
Associall! with thyroid disease
657
SYMPATHETIC OPHTHALMIA
P. KumarRao
Histological findings are the same in exciting and
sympathizing eyes. Findings include a diffuse
Both eyes
Ciliary injection. partially dilated-poorly responsive
pupil, thickened iris, clouding of vitreous. papillitis,
DESCRIPTION granulomatous inflammation consisting of generalized retinal edema, Dalen-Fuchs nodules
Typically it is a bilateral granulomatous panuveitis lymphocytes (predominantly T-cells) and epithelioid (small, yellow, deposits beneath retinal pigment
that occurs following penetrating injury or surgery to cells within the uveal tract. Epithelioid cells may epithelium), peripheral choroiditis, exudative retinal
one eye. contain pigment. Multinucleated giant cells may also detachments, and choroidal granulomas have been
Although the trauma occurs in only one eye, the be present. In addition, dusters of epithelioid cells described.
uveitis involves both eyes. The traumatized eye is may accumulate between the retinal pigment
commonly referred to as the "inciting or "exciting" epithelium and Bruch's' membrane. These dusters DIAGNOSTIC TESTS & INTERPRETATION
eye and the oontralateral eye is known as the may appear yellow clinically and are len own as Imaging
"sympathizing" eye. Dalen-Fuchs nodules. Fluorescein angiography reveals multiple
hyperfluorescent dots at the level of the RPE that may
EPIDEMIOLOGY ETIOLOGY persist in to the late phase of angiogram. Coalescence
Incidence Many studies reveal a role for T-cell mediated of the dye from these foci may occur in areas of
Incidence of the disorder following trauma or surgery inflammation directed against uvea-retina proteins. exudative retinal detachment. A pattern similar to
is very rare, occurring in 0.19% of cases following COMMONLY ASSOCIATED CONDITIONS multiple evanescent white dot syndrome-early
trauma and 0.007% of cases following ocular Trauma hypofluorescence followed by dye leakage in a
surgery. wreath-like pattern in the venous phase has also been
RISK FACTORS
Occurs following penetrating injury or surgery to the
~ DIAGNOSIS described.
eye. HISTORY A diffuse granulomatous inflammation consisting of
A history of trauma or surgery occurring prior to the lymphocytes (predominantly T--cells) and epithelioid
Genetics
HLA-11, DR4/DRw53, DR4/DRw3, DRB1*04, onset of inflammation is critical to making the cells within the uveal tract. Giant cells may also be
diagnosis. present. The choriocapillaris and retina are usually not
DQA 1*03, and DQB 1*04 have been identified in
There is no specific laboratory test to confirm the involved.
some patients.
diagnosis. DIFFERENTIAL DIAGNOSIS
GENERAL PREVENTION
Patients often complain of pain, redness, Sarcoidosis
The avoidance of trauma
photophobia, and blurred vision. Tuberculosis
Enucleation (removal) of a blind eye within 14 days
of the trauma may prevent the development of PHYSICAL EXAM Vogt-Koyanagi--tiarada syndrome
sympathetic ophthalmia. Exciting eye
Photophobia, decreased vision, and keratic
precipitates on endothelium may be seen.
Sympathizing eye
Symptoms are variable and may be insidious or rapid
in onset. Mild anterior or posterior uveitis, ciliary
flush, keratic precipitates. pain, photophobia,
increased lacrimation, and blurred vision may occur.
658
SYMPATHETIC OPHTHAlMIA
3. Rao NA, Robin J, Hartmann D, et al. The role of

. TREATMENT ONGOING CARE penetrating wound In the developmen1 of
sympathetic ophthalmia: experimentaI
MEDICATION FOLLOW-UP RECOMMENDATIONS observations. Ard! Ophthalmol t 983; 101 :
FirstUne Patients wi II need very dose monitoring umil the 101-104.
Oral (1 mg/kgfday) or pulse dose mrtiCDSteroids have disease Is brought under control. Patients wlll
a rapid onset of action. However, patients who need need continuous follow-up with other specialists as
more than 10 mg of predn lsone dally to control their needed. . CODES
inflammation will require steroid-sparing agents as PROGNOSIS
high-dose steroids cannot be used for long periods of A majority of patients treated with ICD9
time without severe side effects. corticosteroidsfi mmunosuppression can maintain a 360.11 Sympathetic uveitis
I
SecondUne vision of 10160 or better. 360.11 Panuveltls
Enudeation of the traumatized eye within 2 weeks of COMPLICATIONS
Injury may preven1 development of sympathetic Bilateral vision loss due to ocular inflammation
ophthalmia. Re11'10Yi11 of the tra umatiZI!d eye after SO CLINICAL PEARLS
Anterior uveitis can cause cataract formation or
develops is controversia I. glaucoma. Posterior segment inflammation can A history of ocular trauma in a patient with
ADDITIONAL TREATMENT result in macular and peripheral retina I scaring and panweltls shoold r.~lse the suspldon for sympathetic
General Measures choroidal detachment. ophthalmia.
Steroid-sparing agents such as mymphenolate mofetil, Aggressive treatment to mntrol the inflammation is
azathioprine, tytlosporine, tacrolimus, and anti-TNF aitical to prevent blindness.
inhibitors have all been used with some success.
REFERENCES
lssws for RaffH'I'al 1. Galor A, Davis Jl.., Flynn HW Jr, et al. Sympathetic
A multidisciplinary team may be required to manage ophthalmia: inddence of ocular mmplications and
the various system lc effects of steroid-sparing vision loss In the sympathizing eye. Am J
therapies (Immunosuppression). Ophtha/mo/ 2009;148(5):704-71 D.
2. Reynard M, Riffenburg RS, Maes EF. Effects of
SURGERY/OTHER PROCEDURES cortimsteroid treatment and en udeation on the
Laser photocoaguIation can be used for retinal visual prognosis of sympathetic ophthalmia. Am J
neovaswlarization and does not produce Ophtha/mo/ 1983;96:19D-294.
postoperative inflammation.
Fluoclnolone acetonlde Implantation (Retlsert) may
help control inflammation in some patients.
659
SYSTEMIC LUPUS ERYTHEMATOSUS [SLE]
Melissa D. Neuwelt
Lens (cataract)
- Especially posterior subcapsular
-Associated with chronic steroid use
DESCRIPTION SLE is diagnosed by at least 4 of the 11 following Vitreous-inflammation (posterior uveitis)
Multisystem autoimmune disease American College of Rheumatology (ACR) criteria: Retina
Chronic course with relapses and remissions Malar rash - Lupus retinopathy
Organ systems most frequently involved: skin. joints, Discoid rash o Cottort-Wool spots (nerve fiber layer infarcts)
kidneys. blood, and CNS Oral ulcers o lntraretinal hemorrhages
Diverse manifestations in eye: Arthritis o Microaneurysms
- Discoid lesions of eyelids Serositis (pleuritis, pericarditis) o Exudates
- Keratoconjunctivitis sicca (dry eye) Renal disorder (proteinuria or cellular casts) o Vascular tortuosity
- Episcleritis - Vasoocclusive retinopathy (more severe)
CNS disorder (seizures, psychosis)
-Scleritis o Capillary nonperfusion
- Cranial neuropathy Hematologic disorder (anemia, leucopenia, o BRVO, CRVO, BRAD, CRAO
- Optic neuropathy thrombocytopenia, lymphopenia) o Neovascularization of disc and retina
- Retinal vasoocclusive disease lm munologic disorder o Vitreous hemorrhage
- Choroidopathy - Antidouble-stranded DNA (anti-dsDNA) o Traction retinal detachment
-Antimalarial drug toxicity -APAs -Choroid
-AntiSm o Uveal effusion
EPIDEMIOLOGY - Falsepositive RPR or VORL o Serous retinal detachment
lnddence Antinuclear antibody (ANA) positive o Choroidal infarction
Approximately 250,000 people have systemic lupus o Choroidal neovascular membrane
HISTORY
erythematosus (SLE) in the US (1)[8] Photophobia - Optic nerve
o Neuropathy
Up to 1f3 of patients with SLE have ocular Redness
o Neuritis
manifestations. Pain o Papilledema (intracranial hypertension)
- Ocular surface disease: up to 30% Diplopia -CNS
- Retinal manifestations: 3-30% (depends on Floaters o Intranuclear ophthalmoplegia
systemic disease activity) Visual decline o Retrochiasmal infarcts
- Optic nerve involvement: 1%
PHYSICAL EXAM DIAGNOSTIC TESTS & INTERPRETATION
RISK FACTORS Ocular adnexa---i!dema, mass, proptosis
Gender: female 9: 1 Lab
Motility-myositis, cranial neuropathy, intranuclear Initial lab tests
Age: peak incidence 2nd-4th decade ophthalmoplegia AntidsDNA (highly specific)
Race: African-American and Asian descent Eyelids--discrete, scaly lesions (discoid lupus) ANA (sensitive)
Family history Conjunctiva-inflammation (noninfectious CBC
Environmental factors: hormones. sun light conjunctivitis) Follow-up 1r special considerations
Drug-induced lupus: procainamide, hydralazine, Sclera
quinidine, chlorpromazine, methyldopa, isoniazid Other autoantibodies
- Episcleritis (superficial, blanches with topical - APA (anticardiolipin and lupus anticoagulant)
Geneffa phenylephrine) -Anti-Ro
Twin studies support genetic predisposition. - Scleritis (deep, does not blanch with topical -Anti-La
Linkage studies have identified many candidate phenylephrine. nodular or diffuse. anterior or -Anti-c1q
genes, particularly on chromosome 1q posterior) -AntiSm
Associated with HLA-A 1, HLA-88, and HLA-DR3 Cornea - Antinucleosome
- Reduced tear film, punctate kl!ratopathy, filaments - AntiNmethy1daspartic acid (NMDA)
PATHOPHYSIOLOGY (dry eye, Sjiigren's syndrome) -Anti-alpha actinin
Autoimmunity may be triggered by autoantigen - Interstitial keratitis (rare)
exposure during apoptosis. - Peripheral ulcerative keratitis (rare) Imaging
-Autoantibody production -Vortex keratopathy (verticillata) Initial approach
- Immune complex deposition o Associated with antimalarial drug use
Fluorescein angiography to assess retinal and
Lupus retinopathy associated with immune o Rarely visually significant
choroidal circulation
complex-mediated arteriolar occlusion and o Reversible with cessation of treatment
- ICG to assess choroidal circulation
thrombosis - OCT to assess for macular edema or serous retinal
Anterior chamber
detachment
COMMONLY ASSOCIATED CONDITIONS - Cell and flare (iritis)
- Bscan ultrasonography to assess vitritis and for
Secondary Sjogren's syndrome - Hypopyon uveitis (rare)
retinal detachment
Antiphospholipid antibody (APA) syndrome (found
in 77% of SLE patients with retinal or optic nerve
disease vs. 29% of other SLE patients) (2)[8]
660
SYSTEMIC LUPUS ERYTliEMATDSUS (SLE)
Follow-up 1: specll cansldel1ltlons ADDmONAL TREATMENT PROGNOSIS

Retinal vascui itis is associated with CNS lupus Generalllleesui9S
involvement. Consider CNS imaging with VIsion loss In 55% of patients with severe
Care should be taken to prevent and manage side vasoocdusive retinopathy (4)[B]
MRVrnagnetic resonance angiography (MRA) to effects of immunosuppressive therapy such as gastric
evaluate forth rombotic events. Optic neuritis outcomes high~ variable, appear to
prophylaxis, blood sugar and blood pressure
improve with early initiation of steroid treatment
l'athologiall Findings monitoring, and purified protein derillative (PPD) (S)[B]
Biopsies of eyelid lesions show immunoglobulin tuberculosis saeening.
deposition at the junction of epidermis and dermis Issues for Refrtrral COMPLICA110NS
en immunohistochemical staining. Systemic treatment of ocular manifestations should be VIsual loss, ret1 nal detachment, optic neuropathy
0 rbita I and adnexal involvement can also be comanaged with the patient's primary doctor and/or
confirmed by biopsy. rheumatologist REFERENCES
I
DIFFERENTlAL DIAGNOSIS Addlflonel Therapies 1. Helmick CG, Felson DT, Lawrence RC, et al.
Discoid lupus on the eyelids should be distinguished Antlcoag uladon for vasoocduslve disease or APA
Est!mates of the prevalence of arth~tls and other
from blepharitis. syndrome
rheumatic conditions in the United States. Part I.
Optic neuritis in SLE can resemble demyelinating -Aspirin
Arthritis Rheum 2008;58(1): 15-25.
disease but is often more severe. - Walfarin
2. Mcntehermoso A, Cervera R, Font J, et al.
Lupus retinopathy resembles diabetic and SURGERY/OTHER PROCEDURES Association of antiphospholipid anti bodies with
hypertensive retinopathy. Treat complications of proliferative retinopathy: retinal vascular disease in systemic lupus
Patients with SLE en immunosuppressive therapy - Panretlnal ph otocoagulatlon erythematosus. Semin Arthritis Rheum 1999;28:
often present with new ocular complaints. It is - Vitrectomy 326-332.
important to rule out an infectious etiology befure 3. Marmor MF, Carr RE, Easterbrook M, et al.
contl nulng or accelerating lmmunosuppresslve IN-PATIENT CONSIDERATIONS
Recommendations on saeening for dlloroquine
therapy. Consider: Initial Stabilization
Consider inpatient admission for pulse IV and hydroxychloroquine retinopathy. A report by
-Herpetic retinitis (herpes simplex virus [HSV], the American Academy of Ophthalmology.
herpes zoster virus [HZV], cytomegalovirus [CMV]) methylprednisolone: 1g/day
Ophthalmology 2002;109: 1377-1382.
-Tuberculosis 4. Jabs DA, Fine SL, Hochberg MC, et al. Severe
-Toxoplasmosis
- [me disease ONGOING CARE retinal vaso-occlusive disease in systemic lupus
erythematosus. Ardl Ophtha/mo/1986;104:
FOLLOWUP RECOMMENDATIONS 558-563.
. TREATMENT Patient Monitoring 5. Lin YC, Wang AG, Yen MY. Systemic lupus
The antimalarial agents are associated with bull's erythematosus-associated optic neuritis: dinical
MEDICATION eye macu lopathy leading to impairment of visual experience and literature review.Adli Ophlhalmol
Fii'St Line arutty, color vision, and visuaI fleld. 2009;87(2):204-210.
Artificial tears for eplsderttls, dry eye All patients Initiating antimalarial therapy should
Oral prednisone for more severe ocular receive counseling about risk of retinopathy and
manifestations: 1-2 mg/kglday have baseline eye exam: visual acuity, dilated fundus . CODES
examination, Amsler, Humphrey 102, optional tests
SecondUne (color, fundus photos, fluorescein angiography, ICD9
Nonstel'oidal amHnflammatoJY drugs (NSAI Ds) muttlfocal electroretlnagram [ERG]) 370.33 KeratoconjunctMtis sicca, not specilied as
Antlmala~als: Risk factor for complications include dose sjogren's
- Chloroqulne > 6. 5 mglkg hydroxychloroquine, > 3 mglkg 373.34 Discoid lupus erythematosus of eyelid
- Hydroxydlloroquine dlloroquine, duration >5 years, renal or liver 7t 0.0 Systemic lupus erythematosus
Steroid~ring immunosuppressive agents: disease, preexisting retinal disease, and age > 60
- Azathioprine years.
- Cyclosporine - Low-risk patients do not require additional
- Mycophenolate mofetll screening exams.
CLINICAL PEARLS
-Cyclophosphamide - High-fisk patients should have annual screening Episderitis will bland! with topical phenylephrine
- Methotrexate exams. whereas sderitis will not
Plasmapheresis Cessation of treatment may hatt or even reverse Scleritis and vasoocclusive retinopathy require
Intravenous immunoglobulins sight-threatening complications. systemic treatment.
Newer biologic agents: At.wys consider infection wl1en evaluating a lupus
- Rituximab (Rituxan) patient on lmmunosuppresslve ther.~py presenting
- Anticytokine agents with a new manifestation or flare.
661
TALC ROINOPATHY
PaulS. Baker
~ BASICS Talc particles embolize to other organs, including the

eye.
Imaging
After many talc particles become lodged in the small Fluorescein angiography is used to assess capillary
DESCRIPTION arterioles of the retinal vasculature, an ischemic nonperfusion and retinal neovascularization.
Characteristic retinopathy with small, intraretinal, retinopathy develops.
whitish yellow, refractile deposits in patients who ETIOLOGY Crystalline retinopathy
abuse intravenous drugs, especially those made from Intravenous drugs that contain talc particles - Cholesterol emboli (Hollenhorst plaque)
crushed tablets or powder (1)[8] - Cantllaxanthin ingestion (oral tanning agent)
RISK FACTORS - Tamoxifen (history of breast cancer)
Intravenous drug abuse
Occurs in patients of any age - Methoxyflurane anesthesia
- Cystinosis
PATHOPHYSIOLOGY
Drug addicts crush oral medications such as ~ DIAGNOSIS - Parafoveal telangiectasia
- Calcified drusen
methylphenidate hydrochloride (Ritalin) or HISTORY - Bietti's crystalline dystrophy
methadone hydrochloride and create an aqueous Chronic intravenous drug abuse, especially with -West African crystalline retinopathy
suspension for intravenous injection. crushed tablets or powder such as methylphenidate -lntraretinallipid exudates
rJ
Oral medications contain talc (hydrous magnesium (Ritalin)
silicate) as an inert filler.
After intravenous administration, talc particles PHYSICAL EXAM TREATMENT
embolize to the pulmonary vasculature. Small. white. glistening crystals concentrated at end
arterioles (intravascular space) throughout tile ADDITIONAL TREATMENT
With chronic intravenous drug abuse, collateral
retina, most prominent in the posterior pole. General Measures
vasculature forms in the lung and allows talc
particles to enter tile systemic circulation. Ischemic retinopathy with capillary nonperfusion, Patients should stop intravenous drug abuse.
including microaneurysms, cotton wool spots, and In tile absence of retinal or optic nerve
venous loops neovascularization, observation is appropriate.
Severe cases can have optic disc and peripheral
retinal neovascu larization with vitreous hemorrhage
(2)]8].
Inspection of skin may reveal evidence of
intravenous drug abuse.
662
TALC RETINDPATliY
SURGERY/OTHER PROCEDURES COMPUCAllONS

In tile presence of perlpl1eral nonperfusion and Ischemic retlnopatily . CODES
neovasculal1zatlon, panretlnal photocoagulation Retinal and optic nerve neovascularlzatlon
should be considered. Vitreous hemorrhage ICD9
Pars plana vitrectomy fur non-dearing vitreous Preretinal fibrosis/tractional retinal detachment 362.1 0 Background retinopathy, unspecified
hemorrhage or visually sign meant tradionaI retinal
detachment can be benefidaI.
REFERENCES CLINICAL PEARLS
ONGOING CARE 1. Murphy SB, Jackson WB, Pare JA. Talc retinopathy. Wh 1te lntr.uetlnal particles withIn t11e retinal
CanJ Ophlhalmo/ 1978;13:152-156. vasculature are characteristic of talc retinopathy.
FOLLOW-UP RECOM MENDA110N5
Yealiy exam for asymptomatic talc retinopathy, more 2. Tse DT, Ober RR. Talc retinopathy. Am 1
frequent if there is significant non-perfusion Ophthalmo/ 1980;90:624-640.
3. Sharma MC, Ho AC. MaaJiar flbrosis associated
PA11ENT EDUCATION with talc retinopathy. Am J OfiJthalmo/1999;
Systemic and 001lar risks of intravenous drug abuse 128:517-519.
PROGNOSIS 4. Martidis A. Yung CW, Ciulla TA. Talc embolism: a
I
Visual prognosis is variable static retinopathy. Am 1 O,A'!thai.M 1997;124:
841-843.
VisuaI acuity can be decreased because of macular
Ischemia.. vitreous hemorrhage, macular flbrosls,
and tractional retinal detachment (3)[8].
In tile absence of ongoing intravenous drug abuse,
talc retinopathy has been shown to be static and
nonprogressive (4)[8].
663
TERSON'S SYNDROME
Mitchell S. Fineman
Cerebrospinal fluid examination may be helpful in
equivocal cases.
DESCRIPTION HISTORY
A history of intracranial hemorrhage and increased Pathological Findings
Named after the French ophthalmologist Albert
intracranial pressure is usually present. Histology of vitreous samples show red blood cells
Terson who described the condition in 1900
Visual changes are usually present with few white blood cells.
Originally defined as vitreous hemorrhage in the
-Decreased vision Epiretinal membranes with glial proliferation may be
setting of subarachnoid hemorrhage
- Restricted peripheral vision found.
Definition has evolved to include any intraocular
hemorrhage associated with intracranial - New-onset floaters DIFFERENTIAL DIAGNOSIS
hemorrhage and increased intracranial pressure Patients with impaired neurological status may not Vitreous hemorrhage due to other causes
be able to provide a history. Proliferative diabetic retinopathy
EPIDEMIOLOGY
PHYSICAL EXAM Sickle cell retinopathy
lnddence
Visual acuity may range from 20/20 to light Shaken baby syndrome Valsalva retinopathy
rJ
Approximately 15% of patients with subarachnoid perception.
hemorrflage develop intraocular hemorrhage (1)1A]. Ocular findings are usually bilateral.
RISK FACTORS Ophthalmic manifestations may include: TREATMENT
Patients with higher grade intracranial hemorrhage -Vitreous hemorrhage ADDITIONAL TREATMENT
are more likely to have Terson's syndrome. - Subhyaloid hemorrhage
- Sub-internal limiting membrane (ILM) hemorrhage
General Measures
The presence of Terson's syndrome is associated Treatment of the intracranial hemorrhage and
with higher mortality and morbidity in patients with - Retinal hemorrhage
control of intracranial pressure is managed by a
intracranial hemorrhage (l)IB]. - Peripapillary hemorrhage
neurosurgical specialist.
DIAGNOSTIC TESTS & INTERPRETATION Intraocular hemorrhage is managed with:
GENERAL PREVENTION
Modify risk factors associated with intracranial Imaging - Observation with elevated head positioning to
hemorrhage Neuroimaging studies in consultation with a allow for spontaneous reabsorption
- Smoking cessation Neurosurgical specialist -Avoidance of anticoagulant medications when
-Treatment of hypertension - CTscan medically possible
- MRI scan Pediatric Considerations
PATHOPHYSIOLOGY - Cerebral angiography
Mechanism is controversial with several competing The development of amblyopia in children with
B-scan ultrasonography is recommended if the unilateral or asymmetric visual loss should be
theories ocular hemorrhage obscures visualization of the
- Original theory suggested that intracerebral blood monitored closely.
retina.
directly communicated with intraocular space via Early vitrectomy and/or patching of the fellow eye
the optic nerve sheath. may be necessary to prevent amblyopia.
- Intracranial bleeding may result in elevated
venous pressure that is transmitted to the
intraocular vessels.
- Elevated intracranial pressure is transmitted along
optic nerve sheath resulting in rupture of the
peripapillary vessels.
EnOLOGY
Intracranial hemorrhage combined with intracranial
hypertension leading to intraocular hemorrflage
664
TERSON'S SYNDROME
Issues for R.rdarra/ REFERENCES

Airy patient who presents with ocular findings ONGOING CARE
consistent with Terson's syndrome should be referred 1. McCarron MO, Alberts MJ, McCarron P. A
Immediately for urgent neurosurgical consultation FOLLOW-UP RECOMMENDATIONS systematic review of Terson's syndrome: Frequency
Resolution of the intraocular hemorrhage may take and prognosis after subarachnoid haemorrhage.
SURGERY/OTHER PROCEDURES months without surgery J Neurol Neurosurg Psychiatry 2004;75:491-493.
YAG Laser vitreolysis to disrupt the posterior hyaloid
Patient NlonitDring 2. Fountas KN, Kapsalaki EZ. Lee GP, et al. Terson
face and promote absorption of the hemorrhage hemorrhage in patients suffering aneurysmal
-This may lnaease the risk of eplretlnal membrane Patients should be examIned serially until the
lntraorular hemormage has deared completely subarachnoid hemorrhage: Predisposing factors
formation.
and prognostic significance. J Neurosurg
Pars plana vitrectomy surgery is indicated in the PATIENT EDUCATION 2008;109:43s-444.
following situations: Amsler grid monitoring may help to identify patients 3. Kuhn F. Morris R. Witherspoon CD, et al. Terson
- Nonclearing vitreous hemorrhage with epiretinal membrane development syndrome. Results of vitrectomy and the
- Ret! nal detachment associated w1th vitreous significance of vitreous hemorrhage in patients
hemorrhage PROGNOSIS
with subarachnoid hemorrhage. Ophthalmology
- Thick sulrii.M hemorrhage inY(Jiving the fovea The visual prognosis in adults is excellent with 1998;105:472-477.
- Monocular patients with deaeased vision >80% of patients recovering normal or near-normal 4. Schultz PN, So.bol WM, Weingeist TA. Longterm
I
- Children at risk for amblyopia vision (3)[B]. visual outcome in Terson syndrome. O{iltha/mology
IN-PATIENT CONSIDERATIONS Children have a more guarded visual prognosis 1991 ;98:t 814-t 819.
Initial Stabilization because of the risk of amblyopia.
Managed by neurosurgical specialist Overall prognosis is related to the severity of the
Admission Ctfterla intracranial hemorrhage and the subsequent . CODES
Determined by neurosurgical specialist neurological sequelae.
COMPUCATIONS ICD9
Disdlrge Criteria 360.43 Hemophthalmos, except OJ rrent InJury
Determined by neurosurgical specialist Risk of am blyopla In children under the age of 9
years 379.23 VItreous hemorrhage
Epiretinal membrane formation occurs as a late 432.9 Unspecified intracranial hemorrhage
finding in a significant proportion ol patients (4).
- Subhyaloid or sulrIL.M hemorThage may stimulate
gliaI cell proliferation. CLINICAL PEARLS
- May present years following resolution of the
hemorrhage Terson 's syndrome should be suspected in any
- Macular holes may also occur patient presenting with neurologicaI findings
associated with lntraaanlal hemoohage.
Patients with lntracranlaI hemorrhage should have
an ocular examination to saeen for intraocular
hemorrhage.
Pediatric patients with Terson's syndrome should be
closely monitored for the development of amblyopia.
665
THYGESON'S SUPERFICIAL PUNCTATE KERATOPATHY
PaNeen K. Nagra
~ BASICS
DESCRIPTION
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
Multiple, transient whitish-grey, slightly elevated Patients often present with ocular irritation/foreign
First Line
corneal epithelial opacities body sensation; may have photophobia.
Mild topical steroid (e.g., fluorometholone 0.1 %,
No stromal involvement, corneal edema, or Vision may be slightly blurred or normal. loteprednol 0.2%) with very slow taper over months
conjunctival hyperemia Usually bilateral but may be asymmetric (1)[CJ
Typically bilateral, may be asymmetric (1)[C] May be asymptomatic Topical cyclosporine
EPIDEMIOLOGY PHYSICAL EXAM Asymptomatic patients with few lesions may be
Affects patients of all ages Slit-lamp examination observed.
No sex predilection - Conjunctival quiet or with minimal inflammation Topical lubrication (artificial tears/gel), usually in
- Small, usually multiple, whitish, coarse corneal conjunction with steroids or alone in asymptomatic
lnddence/Prevalence epithelial lesions with clear intervening epithelium patients with few lesions
Rare and stroma Second Line
RISK FACTORS - Lesions may have overlying punctate staining Soft contact lenses reported to provide symptomatic
None identified -Absence of anterior chamber inflammation relief
Genetics DIAGNOSTIC TESTS & INTERPRETATION Treatment with idoxuridine contraindicated,
Associated with HlA DR3 Lab (associated with subepithelial infiltrates)
PATHOPHYSIOLOGY Clinical diagnosis, no additional testing required ADDITIONAL TREATMENT
Unknown Imaging General Measures
Imaging not required but could consider slit-lamp Topical steroids should be tapered very slowly, with
photographs and/or confocal microscopy (2)[C] some patients requiring long-term, infrequent use
DIFFERENTIAL DIAGNOSIS (i.e., weeldy).
Punctate epithelial keratitis Chronic condition marked by exacerbations and
Subepithelial infiltrates flare-ups over years
Infectious (bacterial) corneal infiltrate
666
lliYGESON'S SUPERFICIAL PUNCTATE KERATDPATHY
Issues for R.rdarra/ REFERENCES

Consider referral to cornea specialist if diagnosis is . CODES
unclear or patient Is not responding to treatment 1. Nagra PK. Rapuano CJ, Cohen EJ, et al. lhygeson's
superfldaI puncate keratitis: Ten years' eJII)erlence. ICD9
Additional Thetilpies Ophthalmology 2004;111 :34-37.
Antibiotics ineffective; trifluridine has been shown to 371>.21 Punctate keratitis
be effective in some patients in early reports; 2. Cheng Ll.., Young AL, WOng AKK. et al. In vivo
idoxuridine is cont!llindicated confocal microscopy of lhyge!iOn's superficial
punctate keratitis. Clin Experiment OphthaJmoJ CLINICAL PEARLS
SURGERY/OTHER PROCEDURES 2004;32:3 25-3 40.
Has been noted to recur following LASIK. case reportS 3. Netto MV, Challta MR, Krueger RR. Thygeson's Thygeson'ssuperfldal punctate keratopathy Is a
suggest lower incidence a! recurrence with PRK (3}[C] superfidaI punctate keratitis after laser in situ chronic condition marked by exacerbations and
keratomileusis. Am J O{ilthalmal2004; 138: remissions over years.
507-508. Mainstay a! treatment is topicaI steroids andfor
topicaI cyclosporine.
ONGOING CARE Clinical diagnosis with excellent long-term visual
FOU.OW-UP RECOM MENDA110NS ADDITIONAL READING prognosis
Regular follow-up with goal of slow~ tapering
I
Darrell RW. lhyge!iOn's superficial punctate keratitis:
steroids over months
Natural history and assodation with HLA DR3. Trans
PROGNOSIS Am O{iJthalmol Soc 1981;79:486--516.
Excellent long-term prognosis Tabbara KF, Ostler HB, Dawson C, et al. Thyge!iOn's
COMPLICATIONS superficial punctate keratitis. Oph thalmalagy
Mild steroid use (andfor cyclosporine} is the 1981 ;88:75--77.
mainstay of treatment but may be associated with lhygeson P. Superficial punctate keratitis. .lAMA
side effects including elevated intraocular pressure 1950;144:1544-1 S49.
and cataract formation.
Anecdotal evidence suggests t11at steroid use may
prolong the course a! the disease.
667
THYROID EYE DISEASE
Vladimir Yakopson
Jacqueline Carrasco
~ BASICS
COMMONLY ASSOCIATED CONDITIONS Imaging
Hyperthyroidism CT of orbits (axial and coronal projections)
- May occur concurrently, following diagnosis, or Other conditions are ruled out (see Differential
DESCRIPTION preceding diagnosis Diagnosis)
Thyroid eye disease (also referred to as Graves' -TED is the most common extrathyroid sign of EOM enlargement is assessed (inferior and medial
ophthalmopathy, thyroid-related or associated hyperthyroidism. recti are most commonly involved)
orbitopathy or ophthalmopathy; TED) is an Hypothyroidism Orbital apex is assessed for evidence of optic nerve
autoimmune process affecting extraocular muscles Euthyroid state compression.
and orbital fat and connective tissues. resulting in a Myasthenia gravis Radiologic proptosis can be measured and
spectrum of findings including upper and lower lid
correlated with clinical findings.
retraction, proptosis (exophthalmos). restrictive
strabismus. and, in the worst cases, optic neuropathy. ~ DIAGNOSIS Quiescent disease often shows fatty infiltration of
EOMs (EOMs appear tubular in cross section).
EPIDEMIOLOGY
Ophthalmic features in thyroid eye disease include Diagnostic Procedures/Other
Incidence various degrees of: Visual field testing (may have various defects in
Age-adjusted incidence of ophthalmopathy is - lid retraction (scleral show) cases of optic neuropathy)
16/1 00,000 population per year for women and - lid lag (lids do not move down with downgaze) Single binocular Visual Field Test
2.9/100,000 population per year for men. - lagophthalmos (incomplete Iid closure) Hess screen (measures strabismus)
Majority (up to 70%) of Graves' disease patients - Corneal exposure
demonstrate extraocular muscle (EOM) enlargement External photography
- Superior limbal keratitis (SlK) Color plate deficiencies (decreased color perception
on imaging although only ~50% show clinical signs -lid edema 1
and only 20-30% are clinically relevant may be an indicator of optic neuropathy)
- Redness of eyelids*
manifestations (symptomatic). -Conjunctival injection/redness Pathological Findings
3-5% of cases are severe/sight threatening -Chemosis* Extraocular muscles are separated by granular
Bilateral in 85-95% -Inflammation of caruncle and/or plica* material consisting of collagen fibrils and
Bimodal age distribution - Exophthalmos glycosaminoglycans.
- 5th and 7th decades of life - Restrictive strabismus Focal and diffuse mononuclear cell infiltrates within
More severe in men and older patients - Compressive optic neuropathy EOMs and orbital fat in active disease.
Systemic findings depend on thyroid state. 1 Fibrotic changes in inactive disease
RISK FACTORS
Smoking HISTORY DIFFERENTIAL DIAGNOSIS
Female gender Inquire about Idiopathic orbital inflammation
Uncontrolled thyroid status (hyper- or -Acuity of onset Orbital tumor
hypothyroidism) - Periorbital ache* Orbital vascular malformation (e.g., varix,
Radioiodine therapy - Pain with eye movement lymphocele)
- Diplopia (primary gaze or extreme side gaze only?) Carotid-<avernous fistula
Genetics -Tearing, irritation, and foreign body sensation
No known genetic predisposition identified at this Metastatic disease
- Change in vision
time Note: many of the above conditions are typically
PHYSICAL EXAM unilateral in presentation.
rJ
GENERAL PREVENTION Visual acuity
Smoking cessation is the most important modifiable Pupillary reaction (check for rAPD)
risk factor. TREATMENT
Color plates
Smoking cessation or avoidance has been shown to Ocular motility (restriction of movement)
reduce ADDITIONAL TREATMENT
Ocular alignment (measurable tropia)
- Risk of developing TED General Measures
- Severity of disease Presence of external signs (see Diagnosis) Treatment is determined by level of activity [Clinical
- Rate of recurrence of Graves' disease Hertel exophthalmometry (measures proptosis) Activity Score (CAS) is a validated tool] and severity
- Better response to immunosuppressive therapy Anterior segment exam, with careful attention to of the disease.
15% of patients treated with radioactive iodine corneal surface and presence of su:: Presence of inflammatory signs and/or worsening of
showed progression of ophthalmopathy. This is Funduscopy signs and symptoms suggests active disease
reduced to 5% with concomitant oral prednisone - Examine for evidence of optic nerve swelling or (CAS >3).
treatment. pallor Severity is graded mild, moderate-to-severe, and
- Presence of macular abnormalities (unrelated to sight-threatening (optic neuropathy or corneal
PATHOPHYSIOLOGY TED but possibly contributing to visual loss, if
Enlargement of EOMs and orbital fat leads to ulceration/breakdown).
present) May be observed if mild or asymptomatic, otherwise
proptosis, lid retraction, corneal exposure, diplopia,
and optic nerve compression at the orbital apex. DIAGNOSTIC TESTS & INTERPRETATION treated based on severity
Lab lubrication with artificial tears for symptoms of
EnOLOGY corneal exposure (e.g., dry, gritty, foreign body
An autoimmune disorder with stimulating TSH, T3, and Free T4
Thyroid stimulating immunoglobulin (absence does sensation. tearing)
autoantibodies binding to thyrotropin receptors in the
not rule out disease. Positive test helps confirm Prisms for mild degrees of diplopia
orbit
diagnosis in mild disease; may be followed in - Fresnel prisms-applied to back. of spectacle
treatment of Graves' disease) lenses (con: decrease visual acuity, may cause
glare)
1 Items marked with cDmprise the Clinical Activity Scm-e. 1 -Prisms may be also be ground into glasses (con:
point is assigned tD each. CAS>3 indicates active disease expensive. increase weight of lens)
668
THYROID EYE DISEASE
Madarataly SIVIra Disaast1 Strabismus surgery ADDITIONAL READING

- If active: lmmunosuppresslon with pulse 1.v. or p.o. -Goal Is to realign the eyes In primary (straight
steroids (Level lb evidence for IV pulse) ahead) and reading gall! Bahn RS. Graves' ophthalmopathy. N Eng1 Med
--1 mglkg per day slllrting dllSI! for oral - Diplopia in peripheraI gazes may persist 201 0;362(8):726-738.
prednisone - Ad]uslllble suture technique Is used to verify Bartalena L, Baldeschi L. Dickinson A. et al.
-Large cumulative doses (8-15 g) of l.v. alignment once patient is awake European Consensus Statement of the European
metnylprednisolone have led to death due to - May affect eyelid position ]e.g., recession Group on Graves' Orbitopathy (EUGOGO) on
acute liver failure. (Level II~ Total dose <4.25 g (weakening) af inferior rectus may worsen lower Management of GO. Eur1Endoaino/ 2008;158:
appears safe. Fewer side effects than p.o. steroids. lid retraction) 273-285.
- Orbillll radiation ttypical dose: 20 Gy) may also be Eyelid surgery Bradley EA. Gower EW, Bradley DJ, et al. Orbital
used - Goal is to restore eyeIid closure. coverage during radiation for Graves' ophthalmopathy: A report by
- ConHicting evidence regarding overall efficacy. bll nk, and reduce symptoms af ex-posure the American Academy of Ophthalmology.
I
Shown to be effective In lmprovlng motility and - Secondary goal is to improve cosmesis, restoring a Ophthalmology 2008;11 5:398-409.
decreasing diplopia (l.evellb) more nonmal appearance (remove "thyroid stare") Stiebei-Kalish H, Robenshtok E, Hasanreisoglu M,
- Also used to shortl!n overall course of disease and - Upper eyelids et al. Treatment modalities for Graves'
allow reconstructive surgery to be performed o Transa~taneous or transcon]unctlval approaches ophthalmopathy: Systematic review and
Sight-Threatening Di5ell5e maybeutilill!d metaanalysis. J Clin Endoctino/ Metab
- If due to comeal breaIa!own, it is impera'live to o Upper eyelid retractors (Muller's muscle and/or 2009;94: 2708-2 7I6.
restore adequate coverage of cornea with levator palpebrae) are cut (recessed) Wiersinga WM, Bartalena L Epidemiology and
aggressive Iubrication, tarsorrhap/1y, etc. - Lower eyelids prevention af Graves' ophthalmopathy. Thyroid
- If due to optic neuropathy o Lower Iid retractors are recessed 2002;12:855-860.
o High-dose i.v. pulse steroids (Level Ill) followed o Spacer graft (AIIoDenm, buccal mucosa, banked Wiersinga WM. Management of Graves'
by orbital decompression sclera, etc.) may be used In severe cases to ophthalmopathy. Not Clln Pracr Endoafno/ Merab
o Urgent decompression if unable to tolerate elevate lower Iid position. 2007;3:396-404.
steroids or no response to i.v. steroids
Once disease Is stable, may proceed with
reconstructive surgery
ONGOING CARE
If coDES
A stepwise approach: Orbital Decom pression -+ Primary care provider and/or endocrinologist ICD9
Strabismus surgery-+ Eyelid surgery manage systemic thyroid disease 242.00 Toxic diffuse goiter without mention af
Orbillll surgery may alter strabismus measurements; Ophthalmologist with subspecialty Involvement af thyrotoxic crisis or stonm
strabismus surgery may, in tum, affect eyelid an oculoplastic surgeon manages eye complications 374.41 Ud retraction or lag
position and surgery 376.30 Exophthalmos, unspecified
Not all patients will need all 3 types of surgery Others may indude radiation oncologist, ENT,
Some patients may sklp one af the steps (e.g., a neuro-ophthalmology, and rarely neurosurgery
patient witl1 seyere proptOsis and lid retraction) Patlfmt Monitoring CLINICAL PEARLS
Orbillll decompression Frequency depends on activity and SMrlty of disease. May occur in hyper-, hypt>-, and eult1yroid sta'leS
- The orbit is a bony compartment with foced ranging from once every 3-4 weeks to yearly if mild or
Ud retraction is the most common sign.
volume (-35 cc) slllble.
- Enlargement of EOMs may push the eye forward Number one cause af both unilateral and bilateral
PATlENT EDUCATION proptosis In adults
(proptosis), compress lt1 e optic nerve (optic Patients are informed about the state of their
neuropathy), and/or cause eyelid retraction. CorneaI exposure,. optic neuropathy, and side effects
disease (activity and severity) and advised as to lt1e of treatment (e.g., steroid-induted calllracts) can
- Decompression surgery involves removing parts af recommended treatment and prognosis..
bony orbital walls in order to allow the enlarged lead to lltsualloss..
EOMs and orbital fat to prolapse into the Smoking cessation is disa~ssed and encouraged if
applicable.
surrounding sinuses (floor and medial wall
decom pression, most commonly performed) or PROGNOSIS
fossae ~em poral fossa wilt1 la1eral wall Most cases are mild and req ulre supportive care and
decompression, anterior cranial fossa with roof monitoring only.
decom pression---rarely done, neurosurgicaI Smoking cessation is important in mntrol of
involvement mandatory) progresslontseverlty of disease.
- Orbillll fat may also be debulked at the same lime
COMPLICATIONS
Visual loss
Persistent diplopia
Disftgurement
869
THYROID OPTIC NEUROPATHY
Raed Behbehani
Complete ophthalmologic evaluation
-Slit-lamp examination with fluorescein staining:
DESCRIPTION HISTORY Rule out exposure keratopathy
Thyroid eye disease (TED) is a chronic orbital Known thyroid disease with signs and symptoms - Goldman applanation tonometry in primary
inflammatory disease, commonly associated with (palpitations. weight loss, tremor, proximal muscle position and upgaze positions.
hyperthyroidism (90%) but occasionally with hypo- or weakness) -Pupillary evaluation: To detect RAPD in
euthyroid status. Proptosis compressive optic neuropathy
Eyelid retraction - Hertel exophthalmometry: To measure proptosis
EPIDEMIOLOGY
Diplopia - Orthoptic evaluation: For diplopia due to
Incidence strabismus
Female: Male ratio of 5: 1(16 women: 3 men per Ocular pain
Red eye, foreign body sensation -Dilated fundus examination: To assess the optic
100,000 population) nerve
Vision loss
Prevalence Visual field assessment is important in case of
Smoking
Occurs in 25-50% of patients with Graves' disease compressive optic neuropathy.
(hyperthyroidism) Symptoms of associated myasthenia (double vision,
ptosis, muscle weakness) Pathological Findings
RISK FACTORS The extraocular muscles reveal lymphocyte and plasma
Graves' disease PHYSICAL EXAM cell infiltration along with edema within the
Conjunctival redness over the insertion of the endomysium of the extraocular muscles.
Hashimoto's thyroiditis
extraocular muscle insertion, exposure k.eratopatl'ly
Smoking superior limbic conjunctivitis, and dry eye. DIFFERENTIAL DIAGNOSIS
Genetics Chemosis Orbital inflammatory diseases
Genetic loci implicated include (HLA, 6p21-3), Lid edema - Idiopathic orbital inflammatory disease (orbital
cytotoxic T-Lymphocyte antigen-4 (CTLA-4, 2q33), pseudotumor)
Exophthalmos
tumor necrosis factor (TN F), interferon-gamma, - Sarcoidosis
Strabismus/ophthalmoplegia
intracellular adhesion molecule (ICAM-1 0), and -Wegener's granulomatosis
thyroid stimulating hormone receptor (TSH-R). Optic neuropatl'ly - Orbital infiltration (lymphoma, metastatic disease)
High intraocular pressure Ophthalmoplegia
GENERAL PREVENTION
Avoid smoking (odds ratio for smokers vs. nonsmokers DIAGNOSTIC TESTS & INTERPRETATION - Ocular myasthenia gravis
is 7.7) Lab
lnitialle~b tests
PATHOPHYSIOLOGY TSH, FT3, FT4, and thyroid stimulating
. TREATMENT
Autoimmunity immunoglobulin (TSI).
-Autoantibodies acting specifically on fibroblasts MEDICATION
Acetylcholine receptor antibody testing if ocular First Line
surface TSH-R and insulin-like growth factor-1
myasthenia is suspected Local symptomatic management (Mild disease)
receptor (IGF-1 R) (1)
-Activated fibroblasts secrete chemok.ines and Follow-up It special considerations - Smok.ing cessation
cytokines promoting lymphocyte migration and Endocrinologic assessment for monitoring and -Artificial tears, cold compressors
B-cell maturation. correction of the thyroid status - Patching or prisms for diplopia
- Prostaglandin-E2 (PGE2), PGD-2, lnterleukin-6 Imaging Second Line
(IL-6), and IL-8 may stimulate orbital fibroblasts to CT scan of the orbit Moderate--severe disease (severe congestive
produce glycosaminoglycans (GAG) and adipose - Can be ordered (axial and coronal views) as a orbitopathy/exposure keratopathy/optic neuropathy)
tissue, increasing orbital mass. baseline or in atypical cases and can show
Smoking enlarged extraocular muscle, orbital fat expansion, - Steroids: Oral dose of 6D-1 00 mg can be
- Cigarette smoking has been found to be a risk straightening of the optic nerve, and muscle administered over 2-3 months as a temporizing
factor for the development and severity of TED (2). crowding at the orbital apex measure. Intravenous steroids on various pulse
- CT scan should be ordered in all cases of regimens for a cumulative dose of 8 g can also be
ETIOLOGY
suspected thyroid compressive optic neuropathy given and appear to be more effective and better
Autoimmune (see pathophysiology)
to study the apical region of the orbit especially tolerated than oral steroids (3).
COMMONLY ASSOCIATED CONDITIONS before orbital decompression.
Hyperthyroidism (Graves' disease) in 90% of cases.
Autoimmune conditions (diabetes. myasthenia
gravis)
670
THYROID OPTlC NEUROPAlHY
- Orbillllradiotherapy: This can be given along with Patient Monitoring 4. Bradley EA, Gower EW, Bradley DJ, et al. Orbital
steroids for a cumulative dose 20 Gy, but tile data o Regular pe~odlc ophthalmic ewluatlon IncIudlng radiation for Graves ophthalmopathy: Areport by
on 1ts efflcacy Is conflict! ng. It Is not effective In pupilla!'/ assessment, color vision, visual fields the American Academy of Oplrthalmology.
treating propillsis but should be mnsidered in o Patients with intermittent diplopia should be Ophthalmology 2008;1 15:398-409.
patients with active disease with optic neuropathy assessed for possible associated myasthenia gravis. 5. Khanna D, Chong KK. Afifiyan NF, et al. Rituximab
refractory to maximaI medical therapy and/or IV steroids pulse regimen for active disease have treatment of patients with severe..
surgical demmpression (4). been assodated with hepatic toxidty especially in corticosteroid-resistant thyroid-associated
- Orbillll decempression: RemovaI of parts of the cumulative doses above 8 g. Liver function testing is ophthalmopathy. Ophthalma/ogy 2010;1 17:
orbital bony wa lis (medial, inferiot and lateral) recommended during IV steroid pulse therapy. 133-139.
and fat for compressive optic neuropathy or Oral bisphosphonate should be gi~n to patients
severe proptosis and corneaI exposure requiring steroid treatment to prevent osteoporosis.
-lmmunomodulatary drugs: Rituximab, rapamycin, ADDITIONAL READING
and etanercept have been recently found PATlENT EDUCATION
benefidaI in TED (5). Patients are told to watdl for color desatlJration or o Perry JD, Feldon SE. Rationale for radiotherapy in
decreased vision (signs of optic neuropathy) thyroid eye disease. Am J Ophthalmo/2009;148:
ADDITIONAL TREATMENT o Emphasize tile importance of smoking cessation 818-819.
Genwal Measutes Graves' disease foundation (YoWW. ngdf.org) o Bahn RS. Graves' ophthalmopathy. New Eng J Med
I
Uncontrolled thyroid function is associated with more 201 0;362:726-738.
severe TED. PROGNOSIS
Rundle's curve
lssws for Refwral
- Acti~ (inflammatory) phase (6 months to 5 years) . CODES
o The mmplex nalllre of Graves' disease requires
- lnactiVI! (Fibrotic) phase: Slllble dinicaI signs for at
multidisdplinary team approach of
endocrlnologlsVorbltal surgeon/radiation oncologist. least 6 months suggest that patient has entered ICD9
the inactive phase.
o Corneal exposure and mmpressive optic neuropathy o 242.00 Toxic diffuse goiter without mention of
are siglrt-threatening signs and should be managed COMPLICAnONS thyrotoxic crisis or storm
expeditiously by referral to an Corneal exposu rei Cllmeal uIteration o 376.21lhyrotoxic exophthalmos
orbitallneuroophtha lmology speda list. Compressive optic neuropathy
Additional TllerapJ.s Diplopia
Botulinum toxin can be give In tile upper lids to relieve o Glaucoma CLINICAL PEARLS
lid retraction or into the extraocular muscles as a o TED can be assodated with vision-threatening
temporizing measure for diplopia. mmplications such as exposure ker.ltopathy and/or
REFERENCES
SURGERY/OTliER PROCEDURES Cllm press!~ optic neuropathy.
o Orbital decompression: A combination of 1. Lehmann GM, Garcia-Bales TM, Smith TJ, et al. o Patients who do not display sevl!re proptosis,
mediaVinferiorllateral bony walls can be Regulation of lymphocyte function by PPARgamma: espedally older males, are at a higher risk for
decompressed in proptosis. ex-posure keratopatlly, Relevance to thyroid eye dlseasH"elated Cllm pressive optic neuropathy.
and optic neuropathy. inflammation. PPAR Res 2008;2008:895901. o Patients below the age of 40 years tend to have fat
o Strabismus surgery is usually done following orbillll 2. Cawood TJ, Moriarty P, O'Farelly C, et al. Smoking expansion, whereas patients over 60 years tend to
decempression for diplopia. and thyroid-associated ophthalmopathy: A novel have ertraocular muscle swell ing.
o Lid surgery for lid retraction and dermatochalasis explanation of the biologic link. J Clin Endoainol o TED course is divided into an active inflammatory
can be done with or following strabismus surgery. Metab 2007;92(1):59--64. phase and inactive fibrotic phase.
3. Zoumalan Cl, Cockerham KP, Turbin RE, et al. o Emergent treatment of vision threatening
Efficacy of Cllrtlcosterolds and external beam complications with steroids and/or orbltalr.~dlatlon
ONGOING CARE radiation in the rna nagement of moderate to severe and decompression is important to prevent
thyroid eye disease. J Neuroophtha/ma/ 2007; permanent visual defidt
FOLLOW-UP RECOMMENDAnONS 27:205-214.
o Patient with mild disease and no exposure
L:eratopathy or optic neuropathy can be followed q
3-6 months.
o Patients with adva need exposure keratopalhy and/or
compressive optic neuropathy require immediate
attention (steroids/radiationforbital deCllmpression).
o Patients receiving radioactive Iodine ablation
therapy for hyperthyroidism should be treated
prophylactically with steroids to avoid activation of
TED after treatment.
o Patients fl nishing radioactive ablation therapy
should be treated quiddy with thyroid hormone
replacement as the sudden change to
hypothyroidism can trigger TED activation.
871
TILTED DISC SYNDROME
Michael J. Bartiss

Genetics
Imaging
Has been reported in patients with X-linked recessive Initial approadl
DESCRIPTION congenital stationary night blindness (NYX in CSNB 1 Neuro-imaging should be done in any patient with
E!evated superotemporal optic disc with posteriorly and CACNAlF in CSNB2) tilted disc syndrome whose visual field defect either
displaced inferonasal disc resulting in an oval respects the vertical midline or fails to preferentially
appearance ofthe optic nerve head PATHOPHYSIOLOGY
involve the midperipheral kinetic perimetry isopter
Long axis of disc obliquely oriented Staphylomatous defect surrounding the optic disc
because suprasellar tumor must be ruled out
Situs inversus of retinal vessels, scleral crescent ETIOLOGY
located inferiorly or inferonasally Cause unknown, but may have pathogenic DIFFERENTIAL DIAGNOSIS
Optic nerve dysplasia
Thinning of the inferonasal retinal pigment relationship to retinochoroidal coloboma
epithelium and choroid is typically present. Optic nerve hypoplasia
~ DIAGNOSIS
Often associated witf1 incomplete bitemporal Optic nerve coloboma
hemianopia (preferentially involving the superior
quadrants) that, unlike chiasmallesions, does not
respect the vertical midline
Kinetic perimetry testing demonstrates fairly normal
HISTORY
Congenital defect
rJ TREATMENT
MEDICATION
fields with large and small isopters. PHYSICAL EXAM No medical treatment for the primary disorder
Severely constricted medium isopters occur due to Full ocular examination including careful evaluation
marked ectasia of the midperipheral fundus (which of the optic discs and evaluation for concomitant ADDITIONAL TREATMENT
often normalizes with appropriate refractive treatable amblyopia General Measures
correction). Careful evaIuation of both eyes Appropriate refractive error correction as soon as
indicated
Typically accompanied by myopic astigmatism
refractive error (secondary to fundus ectasia;)
672
TILTED DISC SYNDROME
Issues for R.rdarra/ Patlflnt Monitoring

Low vision evaluation and support as indicated in Patient concerns about appearance if significant . CODES
cases with significant bilateral Involvement strabismus Is present
COMPLEMENTARY a ALTERNATIVE PATIENT EDUCATION ICD9
THERAPIES Low vision intervention in patients with significant 368.47 Heteronymous bilateraI field defects
None proven or indicated bilateral involvement 743.57 Spedfled congenital anomalies af optic disc
Amblyopia therapy and strabismus surgery as Broad range af best conrected vlsuaI acuity CLINICAL PEARLS
indicated
Work to maximize visual potential, espedally in
ADDITIONAL READING bilateraI cases
$ ONGOING CARE Protective eyewear if best corrected visual acuity is
Nucci P, Mets MB, Gabianelli EB. Trisomy 4q with
FOU.OW-UP RECOM MENDA110NS moming glory disc anomaly. Oph tha/mic Genetics, subnormal
Regular follow-ups to monitor for changes In 1990;11:143-145.
refractive error Brodsky MC, Baker RS, Hamed LM. Pediatric
As needed for amblyopia and strabismus monitoring
I
neuro-ophtha/mdogy. New York: Springer,
and treatment 1996;59--61.
Low vision care if indicated Pollack S. The Morning Glory disc anomaly;
Kinetic visual fleld evaIuatlon as soon as patient Is contractile movement. dassifiCIItion, and
capable of giving rei iable responses embryogenesis. Doc Of/!thalmol 1987;65:
439-460.
Brown G, Tasman W. Congenital anomalies of !he
optic disc. New York: New York Grune & Stratton,
1983;171-178.
673
TOXIC ANTERIOR SEGMENT SYNDROME [TASS]
Richard Tipperman

Following appropriate protocols for instrument
sterilization and cleaning
Lab
Initial lab tests
DESCRIPTION Following appropriate protocols for administration Gram stain and culture
Toxic anterior segment syndrome {TASS) is a sterile and ordering of intra- and periocular medications Follow-up ll special considerations
postoperative inflammatory reaction which typically
PATHOPHYSIOLOGY Will be negative in TASS but can also be negative in
occurs 12--48 h following cataract or anterior segment
surgery. It is caused by a noninfectious substance and The acute inflammatory response induces cellular infectious endophthalmitis
is limited to the anterior segment of the eye. Gram necrosis and/or apoptosis as well as extracellular Pathological Findings
stain and culture samples are negative and the damage. Hypopyon
condition is managed with intensive topical steroid ETIOLOGY limbus to limbus corneal edema
treatment. See risk factors DIFFERENTIAL DIAGNOSIS
EPIDEMIOLOGY COMMONLY ASSOCIATED CONDITIONS Infectious endophthalmitis
Incidence of TASS is rare but typically occurs in
outbreaks at a specific surgical center.
RISK FACTORS
Any medication injected in or around the eye or
Occurs at time of anterior segment surgery
~ DIAGNOSIS
rJ TREATMENT
MEDICATION
placed topically at the time of surgery can be HISTORY First Line
implicated in TASS. Inflammatory process which starts within 12-24 h Topical steroids
Preservatives and pH incompatibilities can lead to of cataract surgery
TASS as can contaminants from sterilization. Second Line
Gram stain and cultures are negative. Oral steroids
Intraocular solutions with inappropriate chemical Improves with topical and/or oral steroids
composition, concentration, pH, or osmolality ADDITIONAL TREATMENT
- Preservatives PHYSICAL EXAM Issues for Refe"al
- Denatured ophthalmic viscosurgical devices Severe anterior segment inflammation
Permanent corneal edema may require DSEK or PK.
- Enzymatic detergents Hypopyon is often present.
Scarring of trabecular meshworlc may lead to
- Bacterial endotoxin Limbus to limbus corneal edema is present. glaucoma.
- Oxidized metal deposits and residues Vitreous cavity is rarely involved.
- Intraocular lens residues Gonioscopy can be helpful to look for posterior SURGERY/OTHER PROCEDURES
synechiae. Permanent corneal edema may require surgery as
described above
674
TOXIC ANTERIOR SEGMENT SYNDROME (TASS)
ADDinONAL READING CLINICAL PEARLS

ONGOING CARE
Mamalis N, Edelhauser HF, et al. Toxic anterior As opposed to endophlhalmltls, which typically
PROGNOSIS segment syndrome. J Cataoo Refract SUTg occurs at 4-7 days postoperatively, TASS is usually
Depends on severity of inflammation 2006;32:322-323. seen in the 1st 24 h.
Patients can have permanent corneal edema Kutty PK. Forster T5, Wood-KDob C, et al. Multislilte Adnexa llnflammadon, which Is commonly seen with
Patients can have fiXl!d and dilated pupil outbreak. of toxic anterior segment syndrome, 2005. infectious endophtha Imitis. is nat typical with TASS
Patients can develop glaucoma 1 Cataract Refract Surg 2008;34:585-590. An inflammatory response in the vitreous cavity is
uncommon In TASS and common In Infectious
COMPLICATIONS endophthalmitis
Glaucoma
Tonic pupil
. CODES
Persistent corneal edema
ICD9
360.19 Other endophthalmitis
364.05 Hypopyon
379.8 Other specified disorders of eye and adnexa
875
TOXIC KERATOCONJUNCTIVITIS
Christine G. Saad
~ BASICS
DESCRIPTION
~ DIAGNOSIS
HISTORY
rJ TREATMENT
MEDICATION
Toxic keratoconjunctivitis is an inflammation of the Ocular redness, burning, irritation, and tearing with
First Line
bulbar and palpebral conjunctiva with corneal gradual onset from initial exposure to irritant or use of
Avoid exposure to, or discontinue use of, the
involvement due to exposure to foreign substance(s). ophltlalm ic agent
offending agent, if possible
RISK FACTORS PHYSICAL EXAM Preservative-free artificial tears 4--8 times daily
Use of topical ophthalmic medications, eye Diffuse conjunctival injection associated with a Artificial tear ointment at bedtime as needed
cosmetics, and contact lenses. Further, periocular follicular response
Second Line
molluscum contagiosum Follicles are enlarged and inflamed and mostly
Mild topical steroid may be considered in severe
Exposure to environmental irritants noted in the inferior fornix and palpebral conjunctiva
cases that are not responsive to first-line therapy
Punctate epithelial staining of the cornea -Treatment with topical steroid should be initiated
GENERAL PREVENTION
Avoidance of known irritants Chemosis by an eye care provider.
Mild periocular erythema or edema
PATHOPHYSIOLOGY Periocular molluscum contagiosum lesions: Elevated, ADDITIONAL TREATMENT
Nonantigenic induction of lymphocytes resulting in round, white lesions with an umbilicated center General Measures
mitotic and lymphoblastic transformation Identification and removal of offending agent
DIAGNOSTIC TESTS & INTERPRETATION Contact lens holiday. Use of another contact
EnOLOGY Pathological Findings
Exposure to environmental irritants, topical lens<.are solution when contact lens use is resumed
True ~mphoid follicles that contain genminal centers
ophthalmic medications. contact lenses and with ~mphoblasts
solutions, and eye cosmetics
Prolonged use of ophthalmic medications including DIFFERENTIAL DIAGNOSIS
glaucoma medications (e.g., brimonidine, Allergic, bacterial, or viral conjunctivitis. dry eye,
apraclonidine, pilocarpine), antivirals (e.g., blepharitis, and contact lens overwear
trifluridine), antibiotics (e.g., neomycin, gentamicin),
and cycloplegics (e.g., atropine, homatropine)
Preservatives in ophthalmic medications and
solutions(i.e., benzalkonium chloride)
Preservative-containing soaking solutions and
enzymatic cleansers in contact lens wearers
Proteins that spill from molluscum contagiosum
lesions
676
TOXIC KERATOCONJUNCTIVITIS
Issues for RefetTal PAnENT EDUCAllON Rubenstein JB, Virasch V. Conjunctivitis: Infectious
Failure to respand to treatment Rlsks of topical steroid use Include glaucoma. and noninfectious. In: Yanoff Duker, (ed).
Referral to an eye care prO'o'iderwhen there is visual cataract formation, and predisposition to infection. 0/ilthalma/ogy, 3rd ed. Mosby, 2008.
impairment Treatment with topical steroid should be a Wilkerscn M, Lewis RA. Shields MB. Follirular
short-term treatment only. conjunctivitis associated with apradonidine.AmJ
Patients should be advised to follow up sooner than 0/ilthal 1991;111:105.
Curettage or excision of molluscum contagiasum
advised if there is a progression in symptoms or if Wilson FM II. Adverse externaI orular effects of
lesions
symptoms are accompanied by visuaI impairment topical ophthalmic therapy: An epidemiologic,
PROGNOSIS laboratory, and dlnlcal swdy. Trans Am O{ilthalma/
ONGOING CARE Generally good Soc 1983;81 :854-965.
Wilson FM II. Adverse externaI orular effects of
FOLLOW-UP RECOMMENDAnONS COMPLICATlONS topical ophthalmic medications. Surv O{ilthalmol
Approximately 1 week following the Inltlatlon of Elevation of Intraocular pressure when glaucoma 1979;24:57.
treatment. although follow-up should be based on medications are stopped
severity of disease and comorbidities
- Wilen glaucoma medications are stopped, dose~
monitor lntraorular pressure ADDinONAL READING CODES
I
Patient Monitoring Dart J. Corneal toxicity: The epithelium and stroma ICD9
Monitor vision. With topicaI steroid use, monitor in iatrogenic and factitious disease. E;e {Land.) 370A9 Other keratoconjunctivitis, unspedfied
Intraocular pressure and Intraocular lens 2003;17:1186-892.
Lindquist T. Conjunctivitis: An Oervlew and
classification. In: Krachmer J, Mannis M. Holladay E.
(eds). Comea, 2nd ed. Elsevier Mosby, 200 5.
877
TOXIC OPTIC NEUROPATHY [INCLUDING NUTRinONAl]
Susan M. Ksiazek
Generally related to interference of mitochondrial
function with oxidative stress
PHYSICAL EXAM
Decreased visual acuity and color perception
Optic disc either normal or swollen acutely
DESCRIPTION - Demyelination of white matter-fonmic acid, a - Eventual pallor
Painless, bilateral vision loss including metabolite of methanol, is a mitochondrial toxin - Other neurologic signs depending on agent
dyschromatopsia and central or centrocecal scotoma - Defective mitochondrial oxidative o Keratopathy and hearing loss with nutritional
Exception is unilateral vision loss from phosphorylation, with buildup of reactive oxygen deficiency
phosphodiesterase inhibitors, which are possibly species in the optic nerve in ethambutol and o Myelopathy and dementia with vitamin B12
associated with ischemic optic neuropathy Cuban epidemic optic neuropathy deficiency
Typically slowly progressive; less often acute - Chelates metal-containing enzymes used in the o Nausea, vomiting, respiratory distress,
-Toxins ]e.g., methanol, ethylene glycol, toluene, mitochondria with ethambutol, disulfiram, and headache, confusion, abdominal pain, coma,
styrene, carbon monoxide, cyanide (from smoking penicillamine death with methanol and ethylene glycol
and cassava)] - Smoking may cause elevated cyanide o Peripheral neuropathy with nutritional deficiency
-Drugs Vascular changes at optic nerve head with and disulfiram reaction
o Direct (e.g., ethambutol, disulfiram phosphodiesterase inhibitors o Ophthalmoplegia and nystagmus with
iodochlorohydroxyquinoline, alpha interferon, cyclosporine
ETIOLOGY
vincristine, amiodarone, cydosporine,
Multifactorial with both poor nutrition and toxicity DIAGNOSTIC TESTS & INTERPRETATION
tacrolimus)
playing roles Lab
o Indirect (phosphodiesterase inhibitors and
infliximab) COMMONLY ASSOCIATED CONDITIONS Initial lab tests
- Nutritional deficiencies (e.g., vitamin 812, Smoking and alcohol use are seen often but are not Vitamin levels before treatment (thiamine and 812)
thiamine, folate) clearly demonstrated Other labs when methanol or ethylene glycol is
System(s) affected: Nervous -Tobacco may be a toxin by itself suspected agent
-Alcohol is not a primary contributor; but is related -Elevated methanol (>20 mg/dL) or ethylene glycol
EPIDEMIOLOGY to poor nutrition (> 20 mg/d L) levels
Affects all ages, races, and economic strata - Oxalate crystals in urine with ethylene glycol
Pernicious anemia with vitamin 812 deficiency
Both sexes are equally affected - Serum bicarbonate <B meq/L
~ DIAGNOSIS
Nutritional affects individuals from lower economic Follow-up i special considerations
status and during times of war and famine Frequent measure of blood methanol, C0 2 ,
More common in individuals on certain drugs, bicarbonate, pH, and potassium
occupational exposure, smokers, and alcoholics HISTORY
Either acute (some nutritional and toxins) versus Imaging
Incidence gradual progressive loss of color and central MRl with and without gadolinium with attention to
Varies on type, yet not known in most cases vision optic nerves and chiasm to exclude compressive
- Ethambutol optic neuropathy is 1.5% in 1 Korean causes (e.g., pituitary adenomas)
study or 100,000 new cases annually (1) - Careful documentation of exposure to drug or
- Bilateral putaminaI hyperintense lesions on
toxin or dietary history (2)]8]
Prevalence T2-weighted images with methanol poisoning
Unknown but varies with type ALERT Diagnostic Procedures/Other
RISK FACTORS Methanol and ethylene glycol poisoning presents Visual fields
Impaired renal disease with ethambutol initially with nausea and vomiting. Vision loss Color vision
Occupational exposure for toluene and styrene together with respiratory distress is delayed. Coma Pathological Findings
Smoking with toxic and nutritional causes and death may follow if not recognized (1)]8] Affects the papillomacular bundle of the nerve fiber
- Pipe and cigar more than cigarettes layer
Alcohol intake is often associated with nutritional Initial swelling followed by atrophy
causes DIFFERENTIAL DIAGNOSIS
Genetics Retinal diseases, specifically maculopathies
Unknown Hereditary optic neuropathies
GENERAL PREVENTION Compressive optic nerve lesions
Regular monitoring of patients on ethambutol
B-complex vitamins and vitamin A reduces incidence
in Cuba
678
TOXIC OPnC NEUROPATHY (INCWDING NlfTRITIONAL)
ADDITIONAL READING
. TREATMENT ONGOING CARE Carter JE. Anterior ischemic optic neuropathy and
MEDICATION FOLLOW-UP RECOMMENDATIONS stroke with use af PDE-5 inhibitors for erectile
RrstLine Vision rarely returns; when it does. it ocrurs slowly, dysfunction: cause or coincidence? J Neuro/ Sd
Ethanol or fomepizole for methanol and ethylene over 3-9 months 2007;262:89-97.
o Chang V, McCurdy D, Gordon LK. Enanercept
glycol htient NlonitDring
ICU Initially for severe taxlclt!es associated optic neuropathy. Graefes Arch Clin Exp
Dialysis for methanol and ethylene glycol
Floor care Yfith medically stable patients Ophtha/mo/ 2007;35:681>-682.
Bicarbonate for pH < 7.3
- Thiamine injection with nutritional correction Kerrison JB. Optic neuropathies caused by toxins and
DIET advet3e drug reactions. 0/ilthalmo/ Clin North Am
- Stop inciting drug High protein with 8-romplex vitamins 2004;17:481--488.
- Supportive care (may IncIude airway protection)
PATIENT EDUCATION o Kesler A, Pianka P. Toxic optic neuropathy. Curr
Second Line Neurol Neurosd Rep 2003;3:41 D-414.
With necessary treatment. that Is. ethambutol for
Well-bala need diet, high in protein (3)[C) Kessler L. L.ucescu c. Plnget M, et al.
tuberculosis. call doctor if any spots or decrease in
- Supplement with Bcomplex vitam ins Taaolimus-assodated optic neuropathy after
red color or ahiIity to read appear
ADDITIONAL TREATMENT o Stop use of phosphodiesterase in hihitors if visual pancreatic islet transplantation using a
sirolimusltaaolimus immunosuppressive regimen.
T
Issues for Refetral d1anges
Follow-up with ophthalmologist within 1 week of TransplantJtion 2006;81:63H37.
PROGNOSIS Lloyd MJ, Ftaunfelder FW. Drug-Induced optic
discharge variable
- Sodal services depending on level of disability neuropathies. Drugs ofToday 2007;43:8217~236.
o Some toxicities are fatal or result in neurologic
(vision and mobility) Purvin V, Kawasaki A. Borruat FX. Optic neuropathy
defidts induding blindness in patients using am iodarone. Aid! 0/ilthalmo/
COMPLEMENTARY &. ALTERNATIVE 2006;124:696-701.
COMPUCAllONS
TliERAPIES
Neurologic effects dependlng on agent Rucker JC, Hamilton SR, Bardenstein D, et al.
Steroids
- Peripheral neuropathy with Iinezolid Llnezolld-assoclated toxic op11c neuropathy.
IN-PATIENT CONSIDERATIONS - Cognitive impairment with methanol, ethylene Neurology 2006;66:595-598.
tnmal StabilizatiotJ glycol, and vitamin B12
Metabolic acidosis with methanol and eth~ene
glycol poisoning
REFERENCES . CODES
-Coma and death from respiratory failure
Admission CrttMia 1. Lee EJ, Kim SJ, Choung HK. et al. lnddence and ICD9
Central nervous system dysfunction dinical features of ethambutol-induced optic 377.33 NutritionaI optic neuropathy
- Hlgh suspicion af drug Ingestion neurop;rthy in Korea. J Neuroophthalmol 377.34 Toxic optic neuropathy
2006;28:269-277.
IV Fluids
Crystalloids if blood pressure problems 2. Jammalamadau D, Raissi S. Ethylene glycol,
methanol and isopro~ alcohol intoxication. Am J CLINICAL PEARLS
Nursing Med Sd 201 0;339:276-281.
Awareness of a p;rtienl with poor vision and need to o Early recognition and withdrawal of medication can
3. Orssaud C, Roche 0, Dufier JL. Nutritional optic
assist with basic activities (e.g., eat! ng and walldng) reverse vision loss.
neuropathies. JNeuro/ Sd 2007;262:158-164.
Discharge Ctiterill SUspidon and early treatment of methanol or
Stabilized neurologically ethylene glycol can be life and vision saving.
Stabilized from a renal standpoint Ethambutol patients must be regularly monitored.
679
TOXOCARIASIS
Justis P. Ehlers

Visceral larval migrans
-Systemic infection secondary to Toxocara resulting
PHYSICAL EXAM
Ophthalmic Exam
Variable, multiple presentations
DESCRIPTION from migration of larvae throughout the body, - Endophthalmitis
Ocular toxocariasis is a helminthic disease that is a particularly liver, brain, lung, and eye o Vitreitis
common cause of posterior LNeitis, particularly in -Typically in children, 6 months to 3 years of age o Granulomatous keratic precipitates
children. - History of contact with puppies and/or ingestion o Hypopyon may be present
3 major presentations: of soil o Possible yellowish-white chorioretinal mass
- Endophthalmitis - Often asymptomatic, but may have fever, weight o Retinal detachment may be present
- Peripheral granuloma loss, and coughing o leukocoria may be present
- Posterior granuloma - laboratory resu Its may show leukocytosis with - Peripheral granuloma
eosinophilia, elevated Toxocara lgG and lgM. o White elevated mass present in the peripheral
EPIDEMIOLOGY
- Prognosis usually excellent retina and/or ciliary body region
Varies by region; actual incidence is unknown
- Rarely associated with ocular toxocariasis o Retinal dragging and formation of a falciform
Constitutes 1-l% of pediatric uveitis
fold may occur
~ DIAGNOSIS
Average age of onset is 7.5 years
o Macular heterotopia may be present
80% of patients are < 16 years of age - Posterior granuloma
RISK FACTORS o Overlying vitreitis and inflammation may be
Clinical features of ocular toxocariasis include:
Exposure to soil contaminated with canine feces present in the acute stage
-Typically, young children but may occur in adults
infected with Toxocara canis eggs o White elevated mass typically O.s-4 disc
- Usually unilateral
Exposure to infected pets or animals diameters in size
HISTORY o Often diagnosed at older age
GENERAL PREVENTION Exposure to puppies - Optic papillitis
Good hygiene History of ingestion of soil or other contaminated o localized infection of the optic nerve
Reducing exposure to contaminated environment substances (e.g., grass) o Disc edema with telangiectatic vessels
Periodic treatment of pets Possible history of systemic infection o Possible subretinal exudate
Presence or absence of pain. Toxocara, even in the o Variable peripapillary nodule
PATHOPHYSIOLOGY
Inflammatory response secondary to parasitic infection endophthalmitis form, is rarely painful and does not Other associated ophthalmic findings
resulting in eosinophilic abscess and chronic cause significant photophobia. - Strabismus
granulomatous inflammation -Amblyopia
- leukocoria
ETIOLOGY
Toxocara canis, the dog roundworm, is the primary
causative organism. Infectious eggs are ingested and
the developing larvae move hematogenously to the
eye or other organs.
680
TDXOCARIASIS
DIAGNOSnC TESTS & INTERPRETAnON SURGERY/OTHER PROCEDURES PROGNOSIS

DMgnostk l'l'ocedures/Other Diagnostic pars plana vltrectomy may be performed Depends an severity af Inflammation and location af
Thorough slit-lamp and Indirect ophlhalmosmplc In cases with unclear etiology tD obtain vitreous the Infectlon In the eye
exam are aitical tD diagnosis fluid for analysis. Some patients will maintain excellent visual acuity
Ultrasonography is villiI for evaIuating leukocoria to Pars plana vitrectomy may also be utilized to address with minimal sequelae and others may have severe
help distinguish between Dltler possible diagnoses various complications related to the infection (e.g., complications requiring enucleation.
(e.g., calcifications for retinoblas!Dma, hyaloid retinal detachmen!, severe vitreareti naltraction).
COMPLICAnONS
remnants for PH PV). Laser phatamagulatlon af the Toxocara larva has VIsual lass
CBC for eosinophilia is useful for visceral larval been reported.
Retinal detachment
migrans. but is not useful for oa.!lar disease. Phthisis
Serum and vitreous testing for Tcvcocara lgG
VItreous sample with cytopathologic examination
$ ONGOING CARE
for easlnophlls FOLLOW-UP RECOMMENDATIONS ADDITIONAL READING
Pathological Findings Determined based on severity of inflammation and
disease Sabrosa NA. Zajdenweber M. Nematode infections
In ocular taxocariasis, granulomatous inflammation of the eye: Taxocariasis, onchocerciasis. diffuse
with eosinophilic abscess is often present Significant Consultation with vitrearetinal spedalist and/or
unilateral subacute neuroretinitis, and cysticercosis.
I
quantities of eosinophils may be present in the pediatric aphtha!malaglst may be apprap~ate
depending on severity Ophfha/mol Clfn NotfhAm 2002;15:351-356.
vitreous and uveal tract.
Monocular precautions (e.g o, eye protection) for all Shields JA. Ocular tolOCariasis. A review. SuN
DIFFERENnAL DIAGNOSIS patierrts with severe unilateral vision loss Ophlha/mo/1984;28:361-381.
Retinoblastoma
Coat's disease PATIENT EDUCAnON
Persistent hyperplastic primary vitreous (PHPV) Centers for Disease Control Pa rasltlc Disease . CODES
Retinopathy of prematurity Information: Toxocariasis (http:llwwwocdcogov/
NCIDODIDPD/PARASITE.SitoxocaralfactshUaxocarao ICD9
Familial exudative vltreoretl nopathy htm)
Toxoplasmosis 128o0 Taxocariasis
The National Institute for Health and Clinical 360.19 Other endophthalmitis
Excellence Clinical Knowledge Summaries:
363.20 Chorioretinitis, unspecified
Taxoca~asls (http://wwwocks.n hs.u ktpatlenL
. TREATMENT informationJeafletltoxocariasis)
MEDICATION CLINICAL PEARLS
Antl-hel mlnthlc medications are rarely used for
ocular disease. Retinoblastoma can closely mimic some
Topical or periocular steroids may be used for presentations of taxoca~asls and must be ruled out
control of ocular inflammation.
Topical cycloplegics may be useful in cases with
severe anterior segment inflammation.
0ral steroids may also be employed In cases af
severe inflammationo
Amblyopia and strabismus should be addressed, as
indicated.
681
TOXOPLASMOSIS
James H. Whelan
Lab
Initial lab tests
DESCRIPTION HISTORY
Serum lgM and lgG antibodies can be evaluated for
Toxoplasmic chorioretinitis is usually a unifocal, full Young healthy patients with recent onset of blurred
presumed acquired infections
thickness chorioretinallesion. vision.
- Photophobia lgM found 2 weeks to 6 months after initial infection
Frequently arises from border of preexisting High percentages of general population are lgG
chorioretinal scar -Red eye
-Floaters seropositive
Associated with focal vitreous inflammation directly Can compare antibody levels in serum to intraocular
over the lesion Ingestion of raw meat that contains tissue cysts.
Exposure to cats fluid (aqueous or vitreous) to confirm intraocular
Anterior segment findings may include mild iritis, production.
large keratic precipitates, raised intraocular pressure. HIVor lmmunocompromise
Polymerase chain reaction (PCR) of the aqueous
Signs and symptoms usually limited to the eye, PHYSICAL EXAM humor may be useful in atypical cases
cerebral form seen in HIV Common ophthalmic features of toxoplasmosis Chest x-ray, luetic screening, Toxocara serology, and
EPIDEMIOLOGY chorioretinitis can include: TB testing may be helpful when the diagnosis is
Incidence Decreased vision uncertain.
Majority of cases assumed to be congenital, Floaters HIV testing in atypical cases or patients at risk
although recent publications have challenged this Conjunctival erythema DIFFERENTIAL DIAGNOSIS
There are documented reports of acquired disease in Moderate to severe vitreous inflammatory reaction Syphilis
patients with a previously normal fundus and Focal area of chorioretinal inflammation Tuberculosis
seronegative antibody titers. Unilateral pale retinal lesion, with adjacent Toxocariasis
Prevalence chorioretinal scar Sarcoidosis
Most common cause of posterior LNeitis Mild anterior uveitis Acute retinal necrosis (ARN)
Accounts for 90% of necrotizing retinitis Raised intraocular pressure Endophthalmitis
Optic disc swelling - Endogenous
RISK FACTORS
Ingestion of raw meat Less common ophthalmic features include: -Exogenous
Exposure to cats Pain with severe iridocyclitis
HIV
GENERAL PREVENTION
Large keratic precipitates
Neuroretinitis with macular star formation
fl TREATMENT
Retinal artery or vein occlusion MEDICATION
Avoid modifiable risk factors
Consider using trimethoprim/sulfamethoxazole in Cystoid macular edema First Line
patients with history of toxoplasmosis prior to Retinal vasculitis Treatment plan based on location and severity
cataract surgery Peri-arterial exudation, Kyrieleis arteritis Small non-sight threatening lesions
- Trimethoprim/sulfamethoxazole
EnOLOGY - Second-generation tetracycline
Infestation with an obligate intracellular protozoan,
Toxoplasma gondii Sight threatening lesions near disc (2-3 mm) or in
macula
Parasite found in cats. Intermediate hosts include
- Pyrimethamine, PO 200 mg loading dose, then
rodents and birds.
25 mg PO daily
Infestation is usually congenital (transplacental) and - Sulfadiazine 2 g PO loading dose, then 1 g PO q.i.d
occasionally acquired. - Folinic acid 10 mg PO every second day
Predilection for the eye and brain. o Treatment duration is 5~ weeks
HIV
lmmunocompromised patients and the elderly
682
TOXOPLASMOSIS
Steroids CNS findings in the newborn DIET

- Low dose (20-60 mg PO dally 2-3 weeks) - Convulsions All patients should be Instructed to avoid eating raw
- Required to reduce macular or optic nerve - Par.1lysis or undercooked meat containing Toxoplasma cysts.
inflammation or swelling - Hydrocephalus Oti1er dietary risks indude raw milk or unfiltered
-Start minimum of 24 hours after initiation of - lntracranial calcification chlorinated surface water.
antibiotics -Stillbirth
o Discootinue 7-1 0 days prior to siDpping
PATIENT EDUCATION
- Visceral involvement All patients should be aware that the major routes
antibiotics
Pregnant women seronegative for Toxoplasmosis of transmission are:
o Avoid periocular steroids as they may cause
scleritis antlbodles should avoid any contact with cats - Ingestion of contaminated foodstuffs; recommend
during preg nanty. adequate cooking of meat and care handling raw
Topical medications: If anterior segment
Consult Obstl!trician meat
inflammation raised I0 P
Treatment In Pregnancy: - Contamination of hands from disposing of cat
- Steroids, Prednisolone acetate 1% q.l.d
- Clindamydn 30Q.-.fi00 mg PO q.i.d feces or contaminated soiI or sand boxes;
-Cycloplegic agent. Homatropine 2% t.i.d
- Spiramycin 3 g PO in 3-4 doses recommend gloves or hand washing
- Antiglaucoma medications, Timolol maleate 0.5%
-Transplacental transmission from infected mother
b.l.d - Do not use Pyrlmethamlne to fetus during gestation; pregnant women shoold
SecondUne
I
SURGERY/OTHER PROCEDURES avoid any contact with cats
Sulfa allergy: Use Azithromycin, or Atovaquone, or Vitrectomy may be required for dense vilreitis or other
Cllndamycln. PROGNOSIS
compl!cat!ons such as retinal detachment 40% of patients may have permanent unilateral
ADDITIONAL TREATMENT 'lisuallossiD 20/1 00 or less
Additional Tlleraples ONGOING CARE 90% of patients with macular lesions will
Considerations for lmmunocompromlsed patients. expe~ence severe v!slon loss
-Frequently subdinical inflammation FOLLOW-UP RECOMMENDATIONS 15% of patients may have mild visual loss
- May not have preexisting d1 orioretinal scars Small non-sight threatening lesions require less (2014D-20/70)
- Multifocal bilateral disease can be seen stringent follow-up care. but should be assessed 1 5 year recurrence rate Is ~80%
- Can be relentlessly progressive week after initiating therapy and then every 2 weeks. Vision loss more associated with duration of active
- Cerebral form more common, patients require Sight ti1reaten ing infections near the optic nerve or episode than number of rea.nrences
CNS imaging studies macula shoold be assessed at 3 days and then
- Delayed treatment can lead to diffuse spreading weekly. mMPUCATIONS
form mimicking ARN Usual course of treatment is 6 weeks. Mild to severe vision loss
- Avoid systemic steroid use Vitreous hemorrhage
Avoid delays in treating immunocompromised
- May requl re long-term maintenance antibiotic patients and remember these patients may require Secondary d1oro!dal neovascula~zadon
ti1er.lpy Epiretinal membrane formation
long-term antibiotics.
Pregnancy Consldetiltlons l'ilfiwlt Monitoring
Chronic and relentless vitreitis
MaternaI feta I transmission can cause more severe All patients should have a complete dilated ocular Retinal tear and detad1ment
otu tar manifestations. exam on each visit. Cystnid macular edema
Ophthalmic findings in ti1e newborn Resu Its of all blood tests and ancillary testing should Cataract
- Miaophthalmos be attained as soon as possible.
-Bilateral matular scars Patients on Pyrimethamine require weeldy CBC
testing. . CODES
Fasting blood glucose levels should be determined
prior ID starting systemic steroid treatment. ICD9
130.2 Chorioretinitis due to IDicoplasmosis
130.9 Toxoplasmosis. unspecified
883
TRACHOMA
Colleen P. Halfpenny
~ BASICS GENERAL PREVENTION TS (trachomatous scarring): white lines (Arlt's lines),

Improved personal hygiene bands or sheets of scarring of tarsal conjunctiva
Improved environmental sanitation TT (trachomatous trichiasis): ::: 1 eyelash(es) rubbing
DESCRIPTION eyeball
A blinding infectious condition currently found in PATHOPHYSIOLOGY
Bacterial cytoplasmic inclusions infect conjunctival CO (corneal opacity): corneal opacity obscuring
mostly undeveloped countries pupil margin
Consists of an active inflammatory stage in epithelial cells.
Chronic conjunctival inflammation causes tarsal Corneal vascularization/pannus
childhood followed by scarring sequelae in
scarring, which causes lid deformities and trichiasis. Herbert's pits: Shallow limbal depressions, which are
adulthood old ruptured follicles
Recurrent infectious lc.eratitis secondary to exposure
EPIDEMIOLOGY and trichiasis Entropion
lnddence End stage occurs with corneal scarring DIAGNOSTIC TESTS & INTERPRETATION
Incidence varies widely by geographic area
ETIOLOGY Lab
Prevalence Recurrent ocular infections with Chlamydia Conjunctival scraping sent for:
1.2 billion people live in endemic areas in Africa, trachoma tis (serotypes A. B, Ba, and C) Polymerase chain reaction (PCR)
Middle East, southern Asia, India, Australia and the
COMMONLY ASSOCIATED CONDITIONS Direct fluorescein-labeled monoclonal antibody
Pacific Islands
Dry eyes (direct fluorescent antibody IDFAI) assay and
48.5% active trachoma concentrated in 5 countries: enzyme immunoassay (EIA) of conjunctival smears
Ethiopia, India, Nigeria, Sudan, and Guinea. Concurrent infection with Hemophilus influenzae
conjunctivitis may cause more severe course. Giemsa cytology
50% of the global burden of trichiasis is
concentrated in only 3 countries: China, Ethiopia, Pathological Findings
and Sudan.
Active form affects 40.6 million people
~ DIAGNOSIS

Chlamydia! inclusions in conjunctival epithelial cells
lymphoid follicles
8.1 million people have trichiasis HISTORY loss of goblet cells
Accounts for ~ 3% of world's blindness Acute stage: asymptomatic, tearing, discharge, Squamous cell metaplasia
itching, foreign body sensation, and hyperemia Subepithelial fibrous membrane formation
RISK FACTORS
Late stage: foreign body sensation, tearing, DIFFERENTIAL DIAGNOSIS
Endemic areas
photophobia, and decreased vision Active phase:
Poverty
Crowded living conditions PHYSICAL EXAM -Viral (e.g., adenoviral, HSV, VZII)
Grading system (2): - Bacterial (Staph aureus, Moraxella)
Poor water supply
TF (trachomatous inflammation-follicular): follicles - Medicamentosa/toxicity
Host immunity - Molluscum contagiosum
Active stage: Children Ages 2-5 (:::5 of at least 0.5 mm diameter)
Tl (trachomatous inflammation-intense): Late stage:
Late stage: Women -Viral (e.g., adenoviral, HSV, VZII)
inflammatory thiclc.ening of the tarsal conjunctiva
Transmission: -Bacterial (Corynebacterium)
obscuring half of normal conjunctival vessels
- Direct contact (eye-to-eye) - Ocular cicatricial pemphigoid
- Indirect contact (shared clothes) - Stevens-Johnson syndrome
- Eye seek.ing (synanthropic) muscoid fly - Chemical injury
-Coughing or sneezing
684
TRACHOMA
4. Bailey RJ, Arullendran P, Whittle HC, et al.

. TREATMENT ONGOING CARE Randomized controlled trial of slngle-<lose oral
azithromycin in treatment of trachoma. lancet
MEDICATION FOLLOW-UP RECOMMENDATIONS 1993;342:453-456.
RrstLine Single, annuaI, high-coverage mass dose of oraI 5. Reacher M, Foster A. Huber J. Trichiasis surgery for
SAFE strategy (3)[A]: azith romycin can interrupt the tr.~nsmission of trachoma - the bilamP!Iar tJJrsal rotJJtion
- S =Surgery trachoma and also reduces childhood mortality in procedure. Genew: World Health OrganiZ11tion,
- A = antibiotics areas where trachoma is moderately prevalent 1993.
- F= fadaI cleanliness (< 35% In d1lldren; ref. 6, 7) 6. Solomon AW, Holland MJ, Alexander NDE, et al.
- E= environmental improvement Repeated biannual treatments in hyperendemic Mass treatment with single-dose azithrornycin for
areas (> SO% children) is probably needed for trachoma. N Eng J Mer/ 2004;351 :1962-1971.
Active, infectious disease (4)[A]: elimination (8). 7_Porco TC, Gebre T, A.yele B, et al. Effect of mass
- Azlthromydn: Ch lldren: 20 mglkg oraI single dose;
Adults: 1 g oral single dose (l)[A) PATIENT EDUCATION dlstrlbutlon of azlthromydn for trad1oma control on
Hyg lene education overall mortality In Ethiopian children: A
- Doxycycline: 1DO mg b.i.d for 7 days Medication compliance education randomized triai.JAMA 2009;302:962--%8.
-Tetracycline: 1.5 mglkglday for 14 days 8. Uetman T, Porco T, Dawson C, et al. Global
PROGNOSIS elimination of trachoma: How frequently should we
I
Late disease (5)[8): Correction of eyelid deformities Approximately 20-45% of patients with recurrent
(bllamellartarsal rotation procedure) administer mass chemotherapy? Nat Med
active trachoma will develop late scarring 1999;5:572-576.
Corneal opacity: Corneal transplantation (following Women and lndMduaIs with age >40 more IIkely to
lid procedure) have scarring
SecotJd Une COMPUCATIONS . CODES
Tetracycline ointment b.l.d for 3-6 days every month Corneal blindness
for 6-month course ICD9
ADDITIONAL TREATMENT 076.9 Trachoma, unspecified
REFERENCES
GetJeral Measures 077.0 lndusion conjundMtis
Education on the importance of facia I cleanIiness 1. Mariotti SP, Pascolini D. Rose-Nussbaumer J.
and hygiene Trachoma: Global magnitude of a preventable
Improved water supplies {e.g., water provision cause of blindness. Br1 Ophrha/mo/ 2009;93: CLINICAL PEARLS
program, hand-dug wells, rainwater harvesting) 563--568.
Early surgical intervention for treatment of trichiasis
Improved sanitation (e.g., household pit latrines) 2. Thylefors B. Dawson CR, Jones BR, et al. A simple
system for the aSSfSsment of trachoma and its Is Imperative.
Issues for Referral complications. Bull World Health Organ t 987;65: Host Immunity and cona~rrent bacterial Infections
Referral to health system capable of eyelid 477-483. play a role in active disease progressing to chronic
repa lrlreconstructlon Is attica! sequelae.
3. Kuper H, Solomon AW, Buchan J, et al. A attica!
SURGERY/OTHER PROCEDURES relliew of the SAFE strategy for the prevention of High<overage mass distribution of oral azithromycin
Eyelid surgery blinding trachoma. Lanret lrrfect Dis 2003;3: will greatly reduce the transmission of trachoma.
Corneal transplantation: Poor prognosis if continued 372-381. The need for repeat trea1111ents may depend on
prevalence in this community.
lid abnormalities or HcorneaI vascula~zatlon Is
present
685
TRANSIENT VISUAL LOSS
Mary Ellen P. Cullom
~ BASICS
o Retinal artery vasospasm- retinal migraine. Associated symptoms
Especially in young adults. Associated headache -TMVL
or periorbital pain o Contralateral hemisensory or motor symptoms,
DESCRIPTION o Papilledema and optic disc drusen-edema lightheadedness, aphasia-<arotid stenosis
Transient loss of vision in 1 or both eyes causes decreased retinal perfusion o Neck pain, headache, ipsilateral Horner's
-Transient monocular visualloss(TMVL) o Central retinal vein occlusioll-decreased venous syndrome, contralateral sensory or motor
-Transient binocular visual loss (TBVL) outflow symptoms-carotid dissection
- System(s) affected: Central nervous system, ocular - Ocular disease o Headache, scalp tenderness, jaw claudication,
o Angle-closure glaucoma, hyphema, surface myalgias, diplopia"ijiant cell arteritis
RISK FACTORS
Atherosclerosis disease o Eye pain-retinal vasospasm in young adults
TBVL with a prior history of migraine, angle-closure
Hypertension
- Ischemia: Vertebrobasilar insufficiency (VB I) glaucoma
Diabetes mellitus - TBVL
secondary to atherosclerotic disease,
Dyslipidemia cardioembolic source, or vertebrobasilar o Vertigo, diplopia, dysarthria, facial
Cardiac disease dissection. Hypotension often elicits symptoms. numbness-VBI
Obesity -Migraine o Severe headache or posterior neck pain with VBI
Hypercoagulable states -Seizure symptoms-vertebrobasilar dissection
Polymyalgia rheumatica o Headache following visual loss, nausea,
COMMONLY ASSOCIATED CONDITIONS vomiting, photophobia-migraine
Pregnancy Atrial fibrillation o Headache, altered consciousness, nausea,
Medications and drugs Trauma-head and neck. Carotid and vertebrobasilar vomiting, blinking, nystagmus-seizure
Genetics dissection Drugs and medications
Hypercoagulability--Factor V Leiden (AD), Polymyalgia rheumatica"ijiant cell arteritis - Prescription, over the counter, illicit, oral
antithrombin Ill deficiency (AD), protein S and C Hypotension contraceptives. cocaine
deficiency (AD), dysfibrogenemia (AD), Family history
~ DIAGNOSIS
hyperhomocystinemia (AD), and hemoglobin S(AR) - Cerebrovascular and cardiac disease
GENERAL PREVENTION -Migraine
Smoking cessation HISTORY - Clotting disorders
Control of hypertension TMVL versus TBVL monocular or binocular visual PHYSICAL EXAM
Achieve and maintain glycemic control loss. Patients with binocular hemianopic visual field Vital signs
Treatment of dyslipidemia loss will often incorrectly assign it to the eye with the Carotid auscultation-bruit in carotid stenosis
Anticoagulation of atrial fibrillation, high-risk temporal field loss and report monocular visual loss.
Palpate superficial temporal artery-decreased pulse,
cardioembolic disorders Duration and frequency of visual loss-sudden or cords, and tenderness in giant cell arteritis
Exercise abrupt onset. Much overlap of duration
Visual acuity-may be reduced if permanent retinal
-Seconds: Transient visual obscurations of
PATHOPHYSIOLOGY or optic nerve ischemia
papilledema or optic disc drusen. Ocular surface
TMVL disease which improves with blinking or eye Pupils-may have afferent papillary defect with
- Ischemia of retina, optic nerve, choroid rubbing permanent retinal or optic nerve ischemia
- Ocular-surface disease, angle-closure glaucoma, - Seconds to minutes: (30 sec to 30 min) Ischemic Extraocular motility-may have cranial nerve palsy
and hyphema - Minutes: (1 D-60 min) migraine in giant cell arteritis
TBVL - Minutes-days: Seizures Slit-lamp examination
-Transient ischemic attack-ischemia of occipital - Frequency of events-isolated or recurrent - Corneal dryness. keratitis
cortex Description of visual loss - Narrow angles-angle-closure glaucoma
- Migraine-<ortical spreading depression - Positive visual phenomena - Hyphema
- Seizure-neuronal hyperexcitability and o Photopsias (e.g., flashes, sparkles}-ischem ia - Neovascularization of iris or angle, flare in anterior
hypersynchrony more likely to have negative visual phenomena chamber-ocular ischemic syndrome
o Scintillating fortification scotoma (migratory, Tonometry-low intraocular pressure: ocular ischemic
EnOLOGY
bright, zigzag light}-migraine syndrome or high intraocular pressure:
TMVL
o Flickering, bright-colored shapes, geometric Angle-closure glaucoma
-Ischemia
o Atherosclerotic large-vessel disease-<arotid or forms-seizures Funduscopic exam
ophthalmic artery, aortic arch stenosis with - Negative visual phenomena - Optic nerve-disc edema, drusen
decreased ocular perfusion or o Curtain, shade, altitudinal, or complete -Retina
loss-ischemic TMVL o Cotton wool spots, retinal edema or
thromboembolism. Coincident hypotension may
elicit symptoms o Blurry, foggy, hazy, patchy, dim-nonspecific, hemorrhage, arteriolar narrowing, boxcarring or
o Cardioembolic-arrhythmia, valvular disease, often ischemic TMVL shealtling, venous dilation
o Dim, blurred, and complete-ischemic TBVL o Cholesterol emboli-yellowish orange, refractile,
thrombus, tumor with embolization to eye, etc.
o Vasculitis-giant cell arteritis causing retinal Precipitating factors rectangular, often at vessel bifurcation. Source:
artery occlusion or arteritic anterior ischemic - Orthostasis-hypotension produces symptoms in Carotid or great vessels
critical arterial stenosis. o Platelet-fibrin emboli--dull, grayish white.
optic neuropathy
o Hypercoagulable states- retinal arteriolar or -Light-induced-severe carotid stenosis or giant cell long. Source: Carotid, heart valves,
venous thrombosis. Cardiac thrombi arteritis coagulopathy
- Head or neck trauma, chiropractic o Calcific-chalk white, large, and round. Source:
o Carotid artery dissection-traumatic or
spontaneous with occlusion or manipulatiort-earotid or vertebral dissection Heart valves, great vessels
thromboembolism
686
TRANSIENT VISUAL LOSS

Lab . TREATMENT In most young patients (<45 years of age) with
Automated visual field defect present If permanent TMVL. no etiology will be found. Their ~sk. of stroke
retinal or optic nerw ischemia MEDICATION islow(2)[C].
EII!Vilted erythrocyte sedimentation rail! and FlrstUne In TMVL with SD-99% carotid stenosis who were
(-reactive protein. CBC: thrombocytosis in giant cell Giant cell arteritis-See Giant cell arteritis chapter. treated medical~ the 3-year risk of ipsilateral stroke
arteritis Carotid stenosis > 70%--ASA 325 mgfday, is 10%(3)[A].
EKG--atlial fibrillation or sick: sin us syndrome dopidogrel 7s mglday, or ASA 2.5 mg pi us
dipyridamole 200 mg b.i.d. COMPLICAnONS
CBC. SPEP. PT. PTT, factor V Leiden, protein Sand C, Cerebrovascular aaident
antithrombin Ill, homocystine, fibrinogen, Carotid or vertebral dissection--anticoagulation
antiphospholipid antibodies may identify with i.v. heparin followed by warfarin MyocardiaI infarction
hypercoagulable state, especially in young patients Death
Cardiac disease-treatment of arrhythmia, valvular
without risk factors for vaswlar disease.. disease. CHF. AntiC<lagulation (target INR2.5)
Upld proflle-elevated In atherosderotlc disease Seizures-anticonvulsant therapy REFERENCES
Imaging Vasospasm in young patients-<aldum channel
lnltlalappi'OIId! blockers 1. Albers GW, Hart RG, Lutsep HL. et al. AHA
TMVL SecondUne Scientific statement Supplement to the guidelines T
- Carotid duplex ultrasonography-identifies degree for the management of transient lsd!emlc attacks:
Carotid or vertebraI dissection-anti-platelet therapy if
of carotid stenosis and plaque morphology. May A statement from the Ad Hoc Committee On
antiCDagulation is contraindicated
identify carotid dissection Guidelines for the Management of Transient
- Transthoradc echocardiography-detects mural SURGERY/OTHER PROCEDURES lsd1emic Attacks, Stroke Coundl, American Heart
thrombi, val'lular and wall motion pathology, and Carotid stenosis 7D-99% and good surgical Association. Stroke 1999;30:2502-2511.
rumors. candldate--ca rotld endarterectomy 2. llppln J, Corbett JJ, Kerber RE. et al. Amau rosls
- MRI brain-identifies parenchymal isd1emic IN-PATIENT CONSIDERATIONS fugax and ocular Infarctlon In adolescents and
disease. May identify carotid dissection young adults. Ann Neurol 1989;26:69-77.
Admlulon Ctlterla
- CTA or MRA of brain and nKk-rnural thickening Giant cell arteritis with visual loss 3. Benavente 0, Eliasziw M, Streifler JY, e1 al., for the
and luminal narrowing of carotid dissection. Can North American Symptomatic Carotid
Caratkl or vertebral dlssectlon Endarterectomy Trial Collaborators. Prognosis after
demonstrate carotid stenosis and plaque.
Unstable cardiac allhythmla transient monOOJiar blindness associated with
TBVL
- MRI brairt-111ay demonstrate isd1emic areas in Nursing carotid artel'/ stenosis. N Eng J Med 2001;345:
posterior circulation distribution. Reserve for Instruct patient to report any change in vision or 1084-1090.
atypical presentation of migraine. See Migraine neurologic status
chapter. Discharge Criteria
- CTA or MRA brain and ned<: Stenosis or occlusion TMVL (non-cardioembolic): Long-term antiplatelet . CODES
of vertebrobasilar system in patients with therapy (l)[C[
dissection Atrial fibrillation, cardioem bolic source.. some ICD9
- Transthoradc echocardiography-See TMVL above. hypercoagulable states: Long-term antiCDaguIation 346.0 Migraine with aura
Follaw-up a special consldel'ltlons Giant cell arteritis: OraI prednisone taper over 362.34 Amaurosis fugax
Transesophageal echocardiography-reserve for 1-2 years dictated by symptoms, sedimentation 435.1 Vertebrobasilar insuffidency
patients with high degree of suspidon of valvular rate, and C-reactive protein.
disease. septal defects, and aortic anil disease Discontinue cigall!tle smoking
Carotid angiography--<lifferentiates 99% stenosis Blood pressure reduction
CLINICAL PEARLS
from complete occlusion Fasting blood glucose < 126 mgldl TMVL and TBVL are usually ischemic in origin.
Holter monitor-may identify intermittent arrhythmia Treatment of hyperlipidemia Atherosderotic disease accounts for the majority of
Diagnostic Procedures/Other cases. Cardioem bolic sources are less Iikely.
Intravenous fluorescein angiogram-retinal, optic TMVL in patients < 45 is typically benign.
nerve, or choroidal ischemia ONGOING CARE
Temporal artery biopsy---giant cell arteritis FOLLOW-UP RECOMMENDATIONS
EEG-i!pileptiform activity in seizures l'atient Monitoring
,.atholog/GII Findings Follow-up with neuro-ophthalmology in 1 week
Templlllll artery biopsy: inflammatory mononudear Follow-up with neurology and/or cardiology as
ceII infiltrate with destruction of internal elastic dictated by under~ing disease
lamina; glam cells may be present
DIET
DIFFERENnAL DIAGNOSIS Avoid excessive alcohol use.
See E1iology
687
TRAUMATIC GlAUCOMA
Kathryn Burleigh Freid/
L Jay Katz
Anand V. Mantravadi
~ BASICS
-The trabecular meshwork. itself may be torn; DIAGNOSTIC TESTS 8r INTERPRETATION
subsequent scar tissue may obstruct outflow. Lab
- Inflammation levels vary based on injury Initial lab tests
DESCRIPTION severity. In cases of hyphema where sickle cell trait or disease is
Diverse mechanistic grouping of posttraumatic o Acutely, ciliary body swelling and inflammatory a possibility, hemoglobin electrophoresis should be
disorders that results in decreased aqueous outflow, debris can contribute to pressure spikes. performed.
elevated intraocular pressure (lOP), and subsequent o Chronic inflammation may result in synechiae
optic neuropathy formation and chronic angle-closure glaucoma. Hyphema in sickle cell disease or trait requires
Early posttraumatic period mechanisms: Penetrating Injuries special considerations:
- Hyphema Usually, in the acute setting, penetration of the -Avoid carbonic anhydrase inhibitors
-Angle recession globe is associated with hypotony, but it can cause -Avoid epinephrine
- Inflammation direct damage to outflow channels. This may result -Poor prognosis if lOP uncontrolled >24 h
- Lens subluxation in a chronic glaucoma after the initial injury is o It is reasonable to hospitalize these patients for
Late posttraumatic period mechanisms: addressed. treatment and close observation.
-Angle recession o If lOP is uncontrolled within the first 24 h, early
- Direct penetrating injury to angle structures ETIOLOGY
surgical intervention is recommended.
Traumatic glaucoma is most commonly caused by a
EPIDEMIOLOGY blunt compression injury to the globe. Imaging
Incidence Ultrasound biomicroscopy provides high-resolution
Angle recession occurs in up to 75% of bluntly COMMONLY ASSOCIATED CONDITIONS imaging of the anterior chamber structures and can
injured eyes. Unilateral cataract elucidate angle recession, iridodialysis, cyclodialysis,
- Incidence is almost 100% in cases with traumatic Traumatic mydriasis and zonular dehiscence.
hyphema Iridodialysis All patients with penetrating injury should receive a
- 10% of patients with angle recession > 1ao Cyclodialysis CT scan to rule out a retained foreign body.
develop chronic glaucoma even many years after CT scanning may also be required to evaluate for
the trauma.
Prevalence
~ DIAGNOSIS comorbidities (orbital fractures).
2.4 million eye injuries occur annually in the. HISTORY Traumatic glaucoma is a clinical diagnosis.
- Males are 3 times more likely to sustain eye The inciting injury may not be recalled or may seem Gonioscopy will elucidate damage to angle
trauma than females deceptively inconsequential. structures.
RISK FACTORS PHYSICAL EXAM Pachymetry is useful for determining the accuracy of
In children and young adults, the most common In the acute trauma setting, gonioscopy is difficu It lOP measurements.
cause is playground accidents. and sometimes impossible. The following may be Pathological Findings
In ages 30+, the leading causes are sporting seen: Angle recession has a characteristic tear between
accidents, assaults, and motor vehicle accidents - Hyphema the longitudinal and circular muscles of the ciliary
(airbag deployment). - Iridodialysis body.
- Iris sphincter tears Abnormal corneal endothelial cell proliferation may
GENERAL PREVENTION - lens subluxation
Appropriate protective eyewear and headgear occur in angle recession and, in some cases, has
- Corneal edema been noted to cover the meshwork with a hyaline
Public safety measures to prevent injuries
Remote to the trauma, gonioscopy can demonstrate membrane.
PATHOPHYSIOLOGY angle abnormalities such as recession and/or
Non-penetrating blunt trauma peripheral anterior synechiae. The following may DIFFERENTIAL DIAGNOSIS
also be noted: Uveitis-glaucoma-hyphema syndrome
A blunt force initiates an anterior-to-posterior axial
compression and subsequent equatorial expansion. - Unilateral elevated lOP ICE syndrome
Shearing forces exceed the elasticity of the anterior - Unilateral cataract phacodonesis C-C fistula
chamber structures
- Hyphema results from rupture of iris and ciliary
body vessels.
-Angle recession occurs when the ciliary body tears
between the circular and longitudinal muscles.
-Lens subluxation can occur with disruption of
zonular fibers. Forward rotation of the lens,
protrusion of vitreous through ruptured zonules,
or total dislocation of the lens into the anterior
chamber may result in pupillary block and iris
bombe.
688
TRAUMAnC GLAUCOMA
SURGERY/OTHER PROCEDURES ADDI110NAL READING

. TREATMENT Su rg leal Inte/Ventlon Is Indicated when the
maximally tolerated medical treatment has failed Bazzaz S. Katz U, M~ JS. Post-tra umatlc
MEDICATION and the elevated lOP threatens the optic neNe. glaucoma. In: Shaarawy TM, Sherwood MB,
RrstLine Surgery is also indicated whl!ll there is associated Hitthings RA, et al, eds: Glaucoma: MediCi/
For Elevated lOP: corneal blood staining. diagnosis and therapy, Vol. t, Philadelphia:
-Topical aqueOUi suppressants Surgical Pracadures in tha IICUI:a seHing: Saunders/ElseYier Limited, 2009:31-439.
o ,8-Biockers, r.wragon ists, carbonic anhydrase - Anterior chamber wash-<lut Canavan YM, Archer OF. Anterior segment
inhibiiDrs - Filtration surge!) with anterior chamber wash-out consequences of blunt ocular Injury. Br J
- Prostaglandins - In cases of papillary block from lens Ophthalmology 1932;66:549-555.
o Should be avoided in the acute setting when subluxatioii--Ciltaract extraction Kaufman JH, Tolpin OW. Glaucoma after traumatic
Inflammation Is present Surgical Pracadures in tha lata posttraumatic: angle recession: A ten-year prospective study. Am 1
o Likely heIpfulln chron lc angle recession period: Ophthalmology 1974;79:648-654.
glaucoma - Laser tra becu loplasty has shown disappoint!ng Macewan CJ. Eye Injuries: Aprospective survey of
- Miotics should be avoided in traumatic glaucoma. long-term success rates (<25% at 36 months 5671 cases. Br1 Ophth~mo/ 1989;73:888-894.
For Hyphema: - Filtration surge!) such as trabeculectomy or tube Manners T, Salmon JF, HalTon A, et al.
-Topical cycloplegia placement is more prone to fistu Ia fibrosis in Trabeculectomy with mitomycin C in the treatment T
-Topical steroids patients with history of trauma; use of an of post-traumatic angle recession glaucoma. Br1
For PupiIIa!) Block from anterior lens dislocation: antl-metabollte Is Important to enhance the Ophthalmol 2001;85:1 5!H63.
-Dilation of the pupil while the patient is supine chances of long-term success. Melamed S, Ashkenazi I, Gutman I, et al. Nd:YAG
may aIlow the lens to fall back. laser trabecu lopuncture in angle-recession
- Cataract extraction is the definitive treatment. glaucoma. Ophthalmic Surg 1992;23:31-35.
ONGOING CARE Sihota R. Kumar S, Gupta V, et al. Ea~ predictors of
SecondUne
Systemic carbonic anhydrase inhydrase inhibitors FOLLOW-UP RECOMMENDATIONS traumatic glaucoma after dosed globe injury.
-Acetazolamide Normotensive eyes with angle recession > 180 Trabecular pigmentation, widened angle recess. and
o Diamox 125-250 mg p.o. q.i.d require routine reexamination at least once a year higher baseline lntraocular pressure. ArdJ
o Diamox Sequels 500 mg p.o. b.i.d indefinil!!ly. Ophthalmol 2008;126:921-926.
o 500 mg i.v. Eyes with elewted pressure following trauma should Sullivan BR. Glaucoma, angle recession. eMedidne.
o Do not exceed 1 gIn a 24--h pe~od. be seen !VerY 4-6 weeks In the 1st year following Apr 29 201 D. http://emedicine.medscape.com/
o Contra indicated in severe renal disease, hepatic the trauma. artide/1204999-overview
disease. severe pulmonary obstruction, and The dedsion to treat eyes with elevated pressure is Wolff SM, Zimmerman LE. Chronic secondary
adrenocortical insufficiency based an the DVl!rall dinical picture. taking into glaucoma. Assodatlon with retrodisplacement of l~s
- Methazolamide SQ-100 mg p.o. b.i.d account the following factors: root and deepening of the anterior chamber angle
o Contraindicated in renal insufficiency - Severity of elevated lOP secondary to contusion. Am 1 O{ilthalmol
Systemic hyperosmotlc - Optic nerve appeara nee t 962;84:547-563.
-Mannitol 1.5-2 g/k.g i.v. DVl!r a 30-min period - VIsual field findings
o 20% solution (7.5-10 mllkg}
o 15% solution (1Q-13 mllkg)
PATIENT EDUCATION . CODES
o Do not exceed 500 ml in a 24-h period. Patients should be advised of the Importance of
follow-up monitoring.
o Contraindicated In anu~a.. progressive renal ICD9
failure, CHF, severe dehydration, or Intracranial PROGNOSIS 364.41 Hyphema of iris and dlial) bocly
bleeding Is variable and dependent on the success of 364.77 Recession of chamber angle of eye
ADDITIONAL TREATMENT maintaining a normotensive lOP and adequal!! patient 365.65 Glaucoma assodated with ocular trauma
monitoring
Issues for Refeml
In cases of uncertain dlagnosls, consu Italion with a COMPUCATIONS
glaucoma specialist is recommended. Vision loss
Referrals to the appropriate speciaIists may be Traumatic cataract
necessal}' depending on the extent of the trauma Loss of eye
and the structures involved.
689
TRAUMATIC OPTIC NEUROPATHY
Mary Ellen P. Cullom
~ BASICS ETIOLOGY
DirectTON
-Penetration foreign body (e.g., knife, bullet. BB)
Visual acuity
- May range from 20/20 to no light perception
Pupil exam
DESCRIPTION - Postoperative complication - Critical for diagnosis, especially in an unconscious
Traumatic optic neuropathy (TON) is an optic a Endoscopic sinus surgery patient
neuropathy which occurs after head or ocular trauma. a Maxillofacial surgery -Afferent papillary defect: present in unilateral
2 mechanistic etiologies are recognized. a Ocular surgery (e.g., retrobulbar anesthesia, TON. May be absent ifthere is bilateral TON
Direct TON orbital surgery, blepharoplasty) Funduscopic exam
Trauma resulting from penetrating foreign body Indirect TON - Optic nerve appears normal in posterior indirect
which damages optic nerve - Closed head injury TON
a Motor vehicle accident Optic nerve avulsion, edema (unusual), central
Indirect TON
a Bike accident retinal artery and vein occlusion-anterior indirect
Trauma transmits concussive force to optic nerve. a Falls TON
No foreign body or penetration. a Assaults
Anterior indirect TON DIAGNOSTIC TESTS & INTERPRETATION
- Due to sudden anterior displacement or torsion of COMMONLY ASSOCIATED CONDITIONS Lab
globe Loss of consciousness Initial lab tests
- Often has funduscopic signs (e.g., optic nerve Intraorbital or intracranial foreign bodies Slit-lamp examination-exclude ruptured globe
avulsion, optic nerve edema, retinal edema, or Orbital hemorrhage Tonometry-intraocular pressure may be elevated in
central retinal artery and vein occlusion) Orbital, maxillofacial, or basilar sk.ull fracture orbital compartment syndrome or decreased in
Posterior indirect TON Optic canal fracture oocu It ruptured globe
- Most common cause of TON Intracranial hemorrhage Visual fields
- Due to frontal, orbital, or midfacial trauma -Automated or confrontation-a variety of defects
-Almost always has normal optic nerve appearance
System(s) affected: Central nervous system ~ DIAGNOSIS (e.g., altitudinal, arcuate, paracentral, or central
scotoma) may be present
HISTORY Color vision
EPIDEMIOLOGY
Location of trauma - Ishihara color plates-dyschromatopsia
Predominant age: 20-40 years
- Frontal, orbital, or midfacial - Red desaturation-present
Predominant sex: Male
Mechanism oftrauma Flash VE P-abnormal or absent in affected eye.
Occurs in 1-5% of closed head injuries Useful in unconscious patient.
-Direct TON
PATHOPHYSIOLOGY o Foreign body Follow-Up i Speci:;d Considerations
Direct TON - Indirect TON low vision specialist for patients with poor visual
Penetrating foreign body damages nerve or causes o Sudden deceleration injury outcome
hemorrhage. Hemorrhage compresses surrounding o Trauma occasionally may seem insignificant Occupational therapy for patients with poor visual
structures causing ischemia, axonal block, and Onset of visual loss outcome
axonal death. - Immediately after injury or reported when patient
- Optic nerve transection Imaging
regains consciousness CTscan
- Optic nerve contusion or foreign body - If delayed: Suspect expanding nerve sheath or
impingement - Imaging Recommendations
orbital hemorrhage o Axial and coronal planes
- Compressive optic neuropathy secondary to Associated symptoms: o Thin sections and reconstructions
orbital or intrasheath hemorrhage - loss of consciousness o Attention to optic canal
Indirect TON -Anosmia, diabetes insipidus. other neurologic o Spiral CT-short scan time helpful in children
-Anterior indirect TON deficits imply skull base fracture - Orbital CT findings
a Sudden anterior displacement of globe
PHYSICAL EXAM o Periorbital soft-tissue edema
a Optic nerve avulsion, central retinal artery or
Vital signs o Orbital hematoma
vein occlusion
o Optic nerve sheath hemorrhage
- Posterior indirect TON External Ocular Exam
o Optic nerve transection
a Trauma transmits concussive force to nerve. - Orbital findings:
a Foreign body
a Shearing, stretching, compression, or a Ecchymoses, edema, and emphysema
a Orbital, facial, or optic canal fracture
transection of optic nerve o Proptosis
o Penetrating wound or foreign body
- Head CT findings
a Focal block of axonal conduction
a Basilar skull fracture
a Contusion necrosis Ocular motility
a Optic canal fracture
o Ischemic necrosis Ophthalmoplegia may be due to:
a Epidural, subdural, subarachnoid, or cerebral
o Late demyelination - Muscle trauma
hemorrhage
- Orbital hemorrhage
- Cranial nerve palsy (basilar skull fracture)
690
TRAUMAnC OPTIC NEUROPATliY
MRI: Not always ni!CI!ssary. Bl!ltl!r identifies o Removal of foreign body or fracture fragment if optic REFERENCES
soft-tissue findIngs nerve Impingement
-Imaging recommendations Optic nerve sheath fenestration If optic nerve sheath 1. Yu-WaiMan P, Griffith PG. Steroids for traumatic
o First exclude metallic foreign body with CT or hemorrhage is demonstrated on MRl optic neuropathy. Cochrane Dlltabase Syst Rev
plain film o Canthotomy/cantholysis if orbital CDmpartment
2007:C0006032.
o Gadolinium enha need syndrome and optic nerve com pression 2. Bracken MB, Shepard MJ, Holford TR, et al.
o Thin sec:tions Administration of methyl prednisolone for 24 or
-Orbital MRI findings: IN-PATIENT CONSIDERATIONS 48 hours or trilizad mesylate for 48 hours in the
o Optic nerve sheath hemorrhage Initial St.bil~11tiGn treatment of acute spinal cord injury. Resu Its of the
o See orbital CT findings Address cardiovascular or respiratory compromise Third National Acute Spinal Cord Injury
- Brain MRl findings: Admission Criteria Randomized Control Trial. National Acute Spinal
o ChiasmaI edema and hemorrhage o Floor or ICU status determined by general Cord Injury Study.JAMA 1997;277: 1597.
o See head CT findings neurologic status and severity of associated injuries 3. Yu-Wai-Man P, Griffiths PG. Surgery for traumatic
DIFFERENTlAL DIAGNOSIS Treatment with l.v. steroids optic neuropathy. Cochrane Dlltabase Syst Rev
Nonorganic visuaI loss Operative cases 2005:C0005024.
Ruptured globe Nunlng
I
Retinal detad1ment o Check visual awity evety 2 h for first 24 h, and ADDI110NAL READING
thereafter dai ~-
Instruct patient to report any decrease in vision. levin LA, Beck RW, Joseph MP. The treatment of
. TREATMENT traumatic optic neuropathy: The International Optic
Discharge Criteria Nerve Trauma Study. O{ilthalmology 199!1;106:
MEDICATION o Untreated TON 1268-1277.
If patient seen within 8 h of injury o Visually stable lON treated with i.v. steroids or
Corticosteroids operatively
- High-dose steroids may be offered although there o Neurologically stable . CODES
is no proven clinical benefit (l)[A)
-Thorough discussion with patient and fumi~ ICD9
ONGOING CARE 377.39 Other optic neuropathy
-Methylprednisolone 30 mglkg l.v. bolus followed
by SA mglltg/h for 48 h (l)[A] FOLLOW-UP RECOMMENDATIONS
Neuro-ophthalmology in 2-3 days
- Histamine 2 blocker to protect gastric mucosa CLINICAL PEARLS
- Side effects: Peptic ulcer disease, gastrointestinal PATIENT EDUCATION
bleed, hyperglycemia, hypertension, weight gain, Report any decrease in vision or increase in swelling, TON occurs after closed head trauma and
osteoporosis, and psychosis proptosis, or pain to neuro-ophthalmologlst penetrating orbital or intracranial injuries.
If any change In mentaI status: Call 911 The optic nerve typically appears normal but an
ADDITIONAL TREATMENT afferent papillary defect is present {unless bilateral
General Meuutes PROGNOSIS TON).
Cardiovasa.dar and respiratory stabilization of o Variable: 32-57% of patients have improvement in
vision. No consensus exists regarding the rna nagement of
patient TON; therefore. treatment must be individualized.
Multidisciplinary approach: ConsuIt otolaryngology, Better In patients \'11th Indirect TON than direct TON
neurology, and/or neurosurgery If lndlcaled Poor If Inltlal visual acuity Is no light perception
lssuu for Refe~l COMPUCATIONS
Neuro-ophthalmology in 2-3 days o Decreased visua I acuity, decreased color vision, and
visual fll!ld defects
o Periorbital scarring
THERAPIES
Observation alone of TON Is a valid treatment option. Post<ancussive syndrome
Optic canal decompression
- May be offered to patient although there is no
proven dlnlcaI beneflt (3) [A]
- Consider If fracture fragment Impinging on optic
nerve.
-Consider if no improvement in visual acuity after
4.!1 h of i.v. steroids
- Only at institutions with experienced surgeons
- Avoid In the comatose patient
691
TRICHIASIS
OCP-biopsy of conjunctiva for direct
immunofluorescence studies or indirect
DESCRIPTION HISTORY immunofluorescence for presence of
Acquired misdirection or inturning of eyelashes in an Foreign body sensation antibodies-positive in >80%
otherwise normal eyelid margin position Tearing
Distichiasis-abnormal hair growing from Redness
Entropion
meibomian gland openings Previous chemical or physical trauma
Epiblepharon
EPIDEMIOLOGY PHYSICAL EXAM Epicanthus
Incidence
Cicatricial--ocular cicatricial pemphigoid
(OCP}-females >males
Average age 6Q-70 years
lnturned eyelashes abrading globe with normal
position of eyelid margin
Superficial punctuate k.eratopathy or corneal
abrasions
rJ TREATMENT
MEDICATION
Prevalence Chronic blepharitis
Eyelid or conjunctival scarring First Line
Cicatriciai----OCP-1 in 15,00Q-20,000 (1)[C] Ocular lubrication
Symblepharon--cicatricial-linear scar/fold of
RISK FACTORS - Frequent artificial tears, ophthalmic ointment
palpebral conjunctiva to bulbar conjunctiva,
Genetics shortening offornix Treat underlying blepharitis
OCP-associated with HLA-DQB7"301 - Scarring of upper eyelid tarsal conjunctiva on Second Line
PATHOPHYSIOLOGY eyelid eversion (trachoma) Single-dose oral azithromycin (1 g) for
Distichiasis---flair grows from poorly differentiated trachoma4ousehold member treatment does not
pilosebaceous units improve prognosis (2)[C]
Imaging
Trachoma-Chlamydial infection Initial approach ADDITIONAL TREATMENT
Ocular pemphigoid-autoimmune None General Measures
ETIOLOGY OCP-ANA Epilation of lashes-recurrence very common every
Usually unknown Follow-up It special considerations 2~weeks
Scarring of eyelid margin OCP-elevated soluble CD 8 glycoprotein, elevated Issues for Refe"al
Prostaglandin analog eyedrops tumor necrosis factor Ophthalmologist 1week
OCP-a systemic autoimmune pemphigoid disorder Diagnostic Procedures/Other Additional Therapies
that has ocular and nonocular manifestations Cicatricial--<onjunctival biopsy Bandage contact lens
- OCP thought to be a type 2 hypersensitivity OCP-prednisone, dapsone, methotrexate,
reaction, genetically predisposed cyclophosphamide, CeiiCept, or doxycycline
Uncommon:
- Ocular pemphigoid
-Trachoma
692
TRICHIASIS
SURGERY/OTHER PROCEDURES REFERENCES a Sa1 Alsa {Tapic, Alprilllm, Electronic

Procedures to destroy eyelash lollIde ~ Meclla Element>
- Electrolysis or cautel'f 1. Landers J, Kleinschmidt A. Wu J, fl al. Prevalence
- Cryotherapy of cicatridal trachoma in an indigenous population WNW.asoprs.org
-Laser of Central Australia: The Central Australian Topics:
- Raalofrequency Trachomatous Study (CAm}. Clin Experiment -Entropion
SurgiCill clllling procedures Ophthalmoi 200 5;33:142-146. -Ocular Cicatridal Pemphigoid
- Trephination, I!X(ision of follicles 2. West SK, West ES, Alemayehu W, e1 al. Single-dose - Blepharlds
- Eyelid spllnlng and ayo azithromycin prevents trichiasis recurrence -Trachoma
- Eyelid resection following surgery: Randomized trial in Ethiopia.
- Eyelid margin rotation ArdJ Ophthalmoi 2006;124:309-314.
- Anterior lamellar resection 3. West ES, Munoz B, lmeru A. fl al. The association . CODES
between epilation and corneaI opadty among eyes
with tradlomatous trichiasis. Br l Ophthalmo/ ICD9
ONGOING CARE 2006;90:171-174. 374.05 Trichiasis of eyelid without entropion
FOLLOW-UP RECOMMENDATIONS 694.61 Benign mucous membrane pemphigoid with
Eyelashes regrow in few weeks ocular involvement
I
ADDinONAL READING 704.2 Abnormalities af the hair
Patiellt Monitoring
Ophthalmologist- outpatient Bieyen I, Dolman PJ. The Wies procedure for
management of trichiasis or cicatricial entropion of
PAnENT EDUCAnON either upper or lower eyelids. Br l Ophtha/mo/ CLINICAL PEARLS
Warning signs of ocular irritation 2009;93:1612-1615.
Trachoma Is one of the mostlmponant and Trlchlasls If untreated may lead 1o corneal scan1ng,
El Toulchy E, Lewallen S, Courtright P. Routine infection, and permanent loss of vision.
prevalent !!)"! diseases in the world blla mellar tarsal rotation surgery for trachomatous
Eyelashes wi II regrow after epiIa!ion in a few weeks
PROGNOSIS trichiasis: Short-term outcome and factors
associated with surgical failure. Ophtha/ Plast time.
Lashes will almost always regrow; follldes are not
damaged by epilation ReconstrSurg 2006;22:109-112. Suspect ocular pempigoid or trachoma in unusual
cases
Trachorna---qdes of infection, inflammation, Moosavi AH, Mollan SP, BerryBrincatA, et al.
scarring, and Increased trlchlasli and entropion Simpie surgery for trichiasis. OphthaJ Plast Recanstr
Ocular pemphigoid-stabilize if possible with Surg 2007; 23:296-297.
Shlu M, McNab A. Clcatrldal entropion and
COMPLICATIONS trichiasis in an urban Australian population. Clin
ALERT Experiment OphthaJmoJ 2005;33:582-585.
Corneal ablaSion, ulce~ scarring, opadty, Wu AY. lhakker MM, Wladls EJ, et aI. Eyelash
perforation, vascularization, and blindness (3}[CJ resection procedure for severe, rewrrent, or
segmerrtal dcatridal entropion. Ophthal Plast
ReconstrSurg 2010;26:112-116.
893
TUBERCULOSIS IN THE EYE
Jason Hsu

Silicosis ~ DIAGNOSIS
Chronic renal failure
DESCRIPTION HISTORY
Diabetes mellitus
Tuberculosis (TB) is a chronic infection caused by the Classie symptoms (pulmonary TB): chronic cough,
Low body weight blood-tinged sputum, fever, night sweats, and
acid-fast bacillus, Mycobacterium tuberculosis.
-Systemic disease that mainly involves the lung lm munocompromised patients (e.g., acquired weight loss
immune deficiency syndrome [AIDS], leukemia, Vision loss, floaters, eye pain, red eye, and
- Extrapulmonary manifestations may occur with or
Hodgkin's disease) photophobia
without pulmonary TB
o Sites include gastrointestinal tract, PATHOPHYSIOLOGY If orbital involvement is present, patient may also
genito-urinary trac~ cardiovascular system, sk.in, Phlyctenulosis, interstitial keratitis, and retinal have diplopia and ophthalmoplegia
central nervous system, and eyes vasculitis may result from a hypersensitivity reaction to
PHYSICAL EXAM
- Uveitis is the most common ophthalmic mycobacterial proteins
Eyelid manifestations (usually in children):
presentation, although any part of the ~e may be
ETIOLOGY - lupus vulgaris
affected.
Inhalation of aerosolized droplets carrying o Most common form of cutaneous TB
EPIDEMIOLOGY Mycobacterium tuberculosis o Reddish-brown nodules which blanch an
Incidence - 90% of infected persons never develop clinical apple-jelly" color on palpation
Annual incidence oftuberculosis is ~9.3 million disease. - May simulate a chalazion or look. like a cold
patients worldwide o 5% develop disease within first few years of abscess (soft, fluctuant mass without
- Heaviest case burden in developing countries exposure inflammation)
o Annual incidence rate of 363 per 100,000 in o 5% develop disease several years later due to Tuberculous conjunctivitis:
Africa altered host immunity (reactivation of latent - Unusual and more often in children
o Annual incidence rate of 32 per 100,000 in the infection) - May present with mucopurulent discharge, lid
us -Infectious organisms may disseminate from lungs edema, and injection with marked
hematogenously, resulting in extrapulmonary lymphadenopathy (similar to Parinaud's
Prevalence
manifestations oculoglandular syndrome)
In 2007, an estimated 13.7 million people had
o Miliary TB (1.3% of reported cases) may result, - Often chronic. which can lead to scarring
active TB with 1.8 million deaths
described as millet-like seeding in the lungs and
- Leading cause of death in patients with HIV and
extrapulmonary tissues
of infectious death in women of reproductive age
694
Tuberculous episcleritis and scleritis: Posterior uveitis - Eales's disease

- Occurs rarely - Choroidal tubercles o Retinal vasculitis that mainly affects peripheral
- Most common type: Focal necrotizing scleritis o Most common manifestation of intraocular TB retina wiltl recurrent vitreous hemorrhages and
o Scleral perforation may occur o Results from hematogenous spread fibrovascular proliferation in the relative
- Posterior scleritis has been rarely reported o Multiple grayish white to yellow lesions with absence of intraocular inflammation
Corneal manifestations: indistinct borders (<5-50 in number) o Seen in young, healthy adults
- Phlyctenulosis o Unilateral or bilateral o Perivascular exudates and hemorrhages may
o Slightly raised, small, pinkish white to yellow o Usually localized to posterior pole progress to venous thrombosis,
nodules surrounded by dilated vessels. usually o Size: 0.5-3 mm neovascularization, and traction retinal
near limbus on conjunctiva or peripheral cornea o Occasionally may grow into larger mass detachment
- Sectoral interstitial keratitis (choroidal tuberculoma) Endophltlalmitis/panophthalmitis
o Typically unilateral o Pigmented and atrophic scars upon resolution - Usually in children or severely ill adults in the
o Peripheral stromal infiltrate with vascularization with distinct margins setting of systemic TB and chronic illness, poor
- Sclerosing keratitis o lmmunocompromised patients may have no nutrition, or intravenous drug abuse
-Tuberculous pannus (associated with ulcerative concomitant inflammation - Severe inflammation may cause widespread
granulomas involving conjunctiva) - Choroidal tuberculoma destruction of ocular tissues
- Corneal ulcer o Solitary subretinal mass that may mimic -Anterior segment:
I
Anterior uveitis choroidal tumor o Corneal infiltrates
-Typically granulomatous with acute or chronic o Initially small, round, whitish lesion but may o Hypopyon
presentation become yellowish - Posterior segment:
- May have mutton fat keratic precipitates and o Size: 4-14 mm o Vitreitis
posterior synechiae o Associated findings: hemorrhages, retinal folds. o Choroidal detachment
- Secondary glaucoma may occur and exudative retinal detachment o Globe perforation may occur typically near
- Iris or angle granulomas - Serpiginous-like choroiditis equator in cases of panophltlalmitis
o Small translucent nodules at pupillary margin o Multifocal or diffuse plaque-like lesions Tuberculous optic neuropathy and neuroretinitis
(Koeppe's nodules) may be seen wiltl recurrent o Typically have progressive course despite - Optic nerve involvement may manifest as an optic
uveitis treatment nerve tubercle, papillitis. papilledema. optic
- Hypopyon or mass lesion in severe cases - Retinal vasculitis neuritis. retrobulbar neuritis, neuroretinitis, or
Intermediate uveitis o Associated findings: vitreitis, retinal opticochiasmatic arachnoiditis
- Chronic low-grade vitreitis, typically bilateral hemorrhages, perivascular choroiditis,
- May be associated with snowball opacities, snow neovascularization, and neuroretinitis
banlc.ing, peripheral vascular sheathing. peripheral o May resemble Eales' disease but usually has
granulomas more prominent intraocular inflammation
695
Orbital manifestations: Follow-up a special considerations Optical coherence tomography

- Rare case reports In select cases. consider vitreous biopsy or - May be helpful if a choroidal neovascular
-Clinical presentations: diagnostic anterior chamber paracentesis: membrane or cystoid macular edema is suspected
o Periostitis: Chronic ulceration or discharging - May see acid-fast bacilli on smear or culture B-scan ultrasonography
sinus in periorbital region with o May be falsely negative due to low yield of -Choroidal tuberculoma:
discoloredfthickenedledematous surrounding organisms from intraocular fluids o Solid, elevated mass
skin often adherent to underlying bone - Polymerase chain reaction testing may improve o Low to medium internal reflectivity
o Orbital soft-tissue tuberculoma or cold abscess detection and can be performed on even small Ultrasound biomicroscopy: May show ciliary body
without bony destruction: Proptosis and samples. granulomas
palpable orbital mass Imaging If orbital TB is suspected, CT head/orbit is the
o Orbital TB with evidence of bony involvement: preferred imaging modality.
Initial approach
Proptosis. ophthalmoplegia, and palpable Chest X-ray (PA and lateral) -Biopsy confirmation is typically recommended
orbital mass (either open biopsy or fine needle aspiration
o Orbital spread from paranasal sinuses: Follow-up a special considerations
Chest CT if chest X-ray is inconclusive biopsy)
Proptosis, significant globe dystopia, palpable
mass, ophthalmoplegia, and epistaxis Diagnostic Procedures/Other Pathological Findings
o Dacryoadenitis: Limitation of eye movements. Fluorescein angiography Granulomas with central caseous necrosis
ptosis, proptosis, globe displacement, mass in - Choroidal tubercles: surrounded by epithelioid cells, Langerhans' giant
region of lacrimal gland, and regional o Hypofluorescent during transit phase with late
cells, lymphocytes, and plasma cells
lymphadenopathy hyperfluorescence lmmunocompromised patients:
o May also confirm a choroidal neovascular -More of a purulent infection with necrotic and
DIAGNOSTIC TESTS &INTERPRETATION viable neutrophils, macrophages. and numerous
membrane or retinal angiomatous proliferation
Lab associated with a choroidal tubercle (acute bacteria
lniticlllab tests phase or inactive lesion)
Tuberculin skin test (PPD) DIFFERENTIAL DIAGNOSIS
- Choroidal tuberculoma: Infectious
- High-risk groups (e.g., medical personnel, o Early hyperfluorescence with dilated capillary
intravenous drug abusers): Induration > 10 mm -Toxoplasmosis
bed --+- leakage and pooling in late phase if -Syphilis
considered positive there is surrounding exudative detachment
- lmmunocompromised: Induration > 5 mm -Lyme's disease
- Serpiginous-like choroiditis: - Cat scratch disease
considered positive o Active edge with early hypofluorescence and
- Low-risk groups: Induration > 15 mm considered - Toxocariasis
late hyperfluorescence with diffuse staining - Nocardiasis
positive o Healed lesions show transmission
- False positives may occur in patients with prior - Coccidiomycosis
hyperfluorescence or blocked fluorescence from - Candidiasis
BCG vaccination pigment epithelial proliferation
o Note that vaccination-induced reactions wane -Brucellosis
- Retinal vasculitis: - Leptospirosis
over time and are unlikely to persist for o Staining and leakage from vessel walls, primarily
>10years -Leprosy
veins Noninfectious
- May be falsely negative in up to 30% of patients o Peripheral sweeps helpful for documenting
with active TB, especially if immunocompromised - Sarcoidosis
capillary nonperfusion and neovascularization - Be~cet's disease
Interferon-gamma release assays (e.g., lndocyanine green angiography
QuantiFERON-TB test): Detects cellular response to -Autoimmune vasculitis
- Choroidal tubercles/tuberculoma -Tumors
TB antigens through measurement of o Active lesions hypofluorescent--+- iso- or
interferon-gamma release - Metastasis
hyperfluorescent border present in late phase
- Reduced false positive rate in patients with prior o Resolving lesions become less hypofluorescent
BCG vaccination o Helpful in detecting subclin icallesions
Sputum culture (if pulmonary symptoms) - Serpiginous-like choroiditis:
o Active lesions are hypofluoresc.ent throughout
angiogram
696
TlJBERCULDSIS IN THE EYE

. TREATMENT Retinal vascul111s/Eales' disease: With appropriate diagnosis and timely treatment.
- Laser photocoagulation of ischemic nonperfused prognosis Is often good
MEDICATION retina - In advanced, neglected, or aggressive cases. the
RrstLine - If non-dealing vitreous hemorrhage. may amsider outcome may be poor despite appropriate therapy
Multidrug anti-TB regimen i5 required to avoid pars pi ana vitrectomy Orbital TB: Rarely, deaths have been reported due to
reslsta nee. Orbital TB: Surgical intervention may be diagnostic, extension of an orbital focus into the brain
- Typitally: Isoniazid, rifampin, ~azinamide, and therapeutic (e.g., excision of bone and fistulous - VIsual loss may occur In same cases due to optic
ethambutol for 1-4 months tract), or both (e.g., excisional biopsy) atrophy
-Subsequently: Isoniazid and rilampin for another
4-7 months
- 1n cases of Isolated ocular lB, some advocate the ONGOING CARE ADDITIONAL READING
above therapy without ethambutol FOLLOW-UP RECOMMENDATIONS Thompson MJ, AI bert DM. Ocular tuberrulosis. ArdJ
Systemic corticosteroids may limit damage from Infectious disease specialist or internist experienced Ophthalmo/ 2005;1 23:844-849.
delayed-type hypersensitivity in managing TB Madge SN, Prabhakaran VC, ShameD, et al. Orbital
- Consider 4- to 6-week course Pul monologist: In cases of suspected assodated tuberwlosis: A review of the Iiterature. Orbit
-Must be used with anti-TB medications or could
lead to panophthalmitis and systemic 1B due to
pulmonary TB 2oos;27:267-2n. T
Ophthalmologist: In tases with ocular or orbital Bansal R. Gupta A. Gupta V, et al. Role of
activation of latent infection invo!VI!ment, or with ethambutol therapy to e-~a luate anti-tubercular therapy in uveitis with latentl
Conjunctivitis: Anti-TB therapy for toxicity manifest tuberculosis. Am 1 Ophtha/mo/ 2008;
Scleritislepiscleritis: Anti-TB therapy; systemic 146:772-779.
steroids may be used depending 011 severity htient Monitoring
Lotal public health offldals may need to be Gupta V, Gupta A, Arora S, et al. Presumed
Interstitial keratitis: Topltal steroids. systemic with or tubercular serplglnourlike choroiditis.
notified
without topical anti-lB therapy, and cyclopleg ics Ophlha/mo/ogy 2003;1 10:1 744-1 749.
- In some locations, directly observed therapy
Phlyctenulosis: Topical steroids, anti-TB therapy, and (DOTS) is rea~mmended to increase complia nee Gupta V, Gupta A, Rao NA. Intraocular
cycloplegics with anti-TB therapy and to lower the risk of drug tuberwlosis--an update. SIIIV Ophtha/mo/
Uveitis: resistance 2007;52:561-SII7.
- Use of anti-TB therapy decmses rewrrence of Ocular side effects of antl-lB drugs
uveitis - Isoniazid, pyrazinamide, and rifampin carry risk of
-Anterior weitis: Cydoplegics and topical steroids hepatotoxicity . CODES
in addition to anti-TB therapy o Liver function needs to be monitored during
-Intermediate uveitis: Topical, periocular and/or therapy
oral steroids after anti-TB therapy is initiated
ICD9
- Ethambutol 017.30 Tuberculosis of eye. unspedfied examination
- P'l:lsterior uveitis: Oral stel'oids after anti-TB is o Toxic effects: Optic neuritis, photophobia, and
therapy Initiated 363. 13 Disseminated choroiditis and chorioretinitis,
extraocular muscle paresis generalized
o May have paradoxital worsening of o Onset is usually 3-6 months after initiation of
serpiginous-like choroiditis after initiation of 370.31 Phlyctenular keratoconjunctMtis
therapy
anti-TB therapy o Dose dependent: Occurs in t-2% of patients
- Eales' disease: Anti-TB therapy, when associated receM ng 25 mg/k:gfday but Is rare with dally
with clinical evidence of TB Infection CLINICAL PEARLS
dose < 15 mglkg
o If cystoid macular edema Is present. lntravltreal o Recommendation: Baseline ophthalmologic Owlar TB can mimic va ~aus other eye diseases,
triamcinolone or bevadzumab may be used exam with visual field and color plate testing necessitating a high level of clinital suspicion in
o lntravitreal bevadzumab helps induce regression followed by monthly exams and testing if dose order to rna kl! the correct diagnosis
of ne!Waswlarization > t 5 mg/kg or every 3-6 months if lower dose
Tuberculous optic neuropathy: Anti-TB therapy and o Self-monlto~ng with vision card: Instruct patient
oral steroids after antl-TB therapy Is Initiated to stop ethambutol and undergo ophthalmic
Orbital TB: Anti-TB therapy exam if visual acuity decreases
Second Une o If no vision improvement 1D-1 5 weeks after
Streptomydn ethambutol is discontinued, coosider parenteral
Rifabutin and rifapenti ne may be alternatives to hydroxocobalamin 40 mg./day for 1D-28 weeks
~fampln
Drugs that may be useful for drug-resistant TB:
- Cycloserine, levofloxadn, moxifloxacin,
gatifloxacin, amikacin, kanamydn, ethionamide,
and capreomycin
697
TUBEROUS SCLEROSIS
Eugene Milder
~ BASICS Eye
- Optic disc or peripheral retinal astrocytic
hamartomas
Major features
- Facial angiofibromas
- Ungual fibromas
DESCRIPTION - Hypopigmented lesions -Ash-leaf spots
Tuberous sclerosis {TS) is a rare multisystem syndrome - Coloboma (rare) - Shagreen's patch
with a classic triad of findings including: Infantile - Papilledema (in cases of hydrocephalus) - Multiple retinal astrocytic hamartomas
seizures, adenoma sebaceum of facial skin, and - Rarely: Vrtreous hemorrhage, retinal - Cortical brain tuber
mental retardation. neovascularization, retinal exudation or - Subependymal brain nodule
EPIDEMIOLOGY detachment, and vitreous seeding - Subependymal giant cell astrocytoma
Oral cavity - Cardiac rhabdomyoma
Incidence - Lymphangioleiomyomatosis of the lungs
- Pitting of enamel
1D-16 per 100,000 live births - Renal angiomyolipoma
-Gingival fibromas
Prevalence Pulmonary Minor features
7-12 per 100,000 -Abnormal lung sounds - Pitting of dental enamel
RISK FACTORS - Evidence of pneumothorax -Gingival fibromas
Family history - Nonrenal hamartoma (liver, spleen, etc.)
DIAGNOSTIC TESTS & INTERPRETATION - Rectal hamartoma polyps
Genetics Lab -Bone cysts
Autosomal dominant Basic metabolic panel: Loolc specifically at renal -Brain white matter "migration tracts"
function - Retinal hypopigmented patch
GENERAL PREVENTION
Genetic counseling Urinalysis: Look for hematuria - Multiple renal cysts
Imaging -confetti" skin lesions
PATHOPHYSIOLOGY
Initial approach Pathological Findings
Hamartin (gene: TSC1) and tuberin (gene: TSC2) on
MRI/CT (M Rl is preferred) CNS: Astrocytic hamartoma~arge,
chromosome 9, act as a single unit in the mTU R
- Periventricular calcified subependymal nodules well-differentiated, astrocytes with calcium
signaling pathway controlling cell division and growth.
Defects in these genes lead to unregulated Echocardiogram Skin: Adenoma sebaceum--benign angiofibroma
hamartomatous growth in multiple body sites. - Cardiac rhabdomyoma Skin: Ash-leaf spot: Amelanotic nevus
Renal ultrasound Retina: Astrocytic hamartoma
EnOLOGY - Renal angiomyolipoma - Endophytic: in the nerve fiber layer
Many different mutations have been identified in both - Polycystic kidney disease, renal cell carcinoma - Exophytic: In the subretinal space
the TSCl and TSC2 genes. (rare) - Can slowly enlarge, and rarely exude fluid causing
COMMONLY ASSOCIATED CONDITIONS Chest X-ray/CT retinal detachment or vitreous seeding (simulating
None - Parenchymal and subpleural cystic changes, retinoblastoma)
pneumothorax - Composed of large pleomorphic astrocytes with
~ DIAGNOSIS Slceletal X-ray
- Sclerotic areas with focal calcification involving
focal calcification
Renal: Angiomyolipoma-composed of HMB-45+
HISTORY the skull and spine spindle cells; can occur in the renal medulla, cortex,
Careful family history and physical exam of family - Cysts in the phalanges ofthe hands and feet or capsule
members Follow-up It special considerations Pulmonary: Lymphangioleiomyomatosis consists of a
Infantile seizures/spasms Routine surveillance for new tumors, or growth of proliferation of HMB-45+ smooth muscle-lilce cells
- Usually last a few seconds and involve rapid existing tumors growing along the walls of airways and blood
nodding ofthe head and myoclonic spasms ofthe vessels.
limbs No reliable genetic testing available
Facial adenomatous rash Patient is categorized as definite, probable, or
Developmental delay suspect for TS on the basis of constellation of
PHYSICAL EXAM findings
Skin - Definite: 2 major features or 1 major feature plus
- Facial adenoma sebaceum 2 minor features
-Ash-leaf spots (using a Wood's lamp) - Probable: 1 major plus 1 minor feature
- Subungual fibromas - Suspect: 1 major feature or 2 or more minor
- Cafe-au-lait spots (rare) features
698
TUBEROUS SClfROSIS

Differential diagnosis of a retinal astrocytlc ONGOING CARE
hamanoma RoachES, Smith M, Huttenlodler P, et al. Diagnostic
- Retinoblastoma FOLLOW-UP RECOMMENDATIONS criteria: Tuberous sclerosis complex, Report of the
- Optic disc drusen Routine surveillance for new tumors or growth of diagnostic aiteria committee of the National
- Retinal astrocytoma (solitary lesion, identical to existing tumors Tuberous Sclerosis Association. J Child Neurol
retinal lesions of TS. Lesions in TS are often htient NlonitDring 1992;7:22-24.
multiple) Monitor for changes In mental status or seizure Rowley SA. O'Callaghan FJ, Osborne JP. Ophthalmic
- Coats' disease control manifestations of tuberous sclerosis: A
- Toxocariasis Monitor for changes in lung function population-based study. Br J Of/Jtha/mal
- Myelinated nerve fiber layer 2001;85:42()-423.
DIET Williams R. Taylor D. Tuberous sderosls. SutV
No spetiaI diet Ophfha/mo/ 1985;30: 143-1 53.
. TREATMENT PATIENT EDUCATION
MEDICATION Tuberous Sclerosis Alliance
First Line -INWW.tsalliance.org/ . . CODES
I
Drugs to control symptoms PROGNOSIS
Anti-epileptics for seizure CDntrol Ufe expectancy can be normal ICD9
362.89 Other retinal disorders
SecondUne COMPUCATIONS 759.5 Tuberous sclerosis
Rapamycln has been used (Experimental) In mice to Cardiac mabdomyornas can cause obstructive heart 759.6 Other congenital hamartoses. not elsewhere
reduce leamlng deficits In TS. failure or arrhythmia, usually in infancy classified
o Renal failure can be progressive and require renal
transplant
General Measures
Routine surveillance for new tumors, or growth of Pulmonary Involvement can be progressive CLINICAL PEARLS
existing tumors - Can present with pneumothorax
-Severe lymp11angioleiomyomatosis of the lungs is o Hypopigmented macules (Ash-leaf spots"), best
Issues for Rm~l more common in females seen with a Wood's lamp. are often the only ilndlng
P!diatrics and Genetics for diagnosis and family o Neurologic compliCiltions include hydrocephalus. af TS present at birth.
counseling severe mental retardation, and (rarely) status Cardiac rhabdomyomas enlarge during late
Neurology for seizures and CNS involvement epllepdcus gestation and ear~ infancy and tend to regress
Cardiology for rhabdomyoma Ocular complications are rare but can include visual thereafter.
Nephrology, If kidney Involvement Is severe field defects, vitreous hemorrhage. and retinal Retinal astrcq1ic hamartoma, found in ~SO% of TS
Pulmonary, if lung involvement is severe detadlment patients. can occur as a solitary lesion In normaI
OphthaImology/retina examination to look for patients. but can be multiple and bilateral in rs.
astrotytic hamartomas, often crucial for diagnosis
Genetic ccunsell ng for patient and family
Neurosurgery for obstructive hydrocephalus
RenaI transplant for end-stage rena I failure
Lung transplant (rare) for severe lung Involvement
Pars plana vitrectomy {rare) for vitreous hemorrhage
or retina I detachment
699
UVEinS-GlAUCOMA-HYPHEMA (UGH] SYNDROME
L Jay Katz
~ BASICS
~ DIAGNOSIS Repeat optic nerve photography or imaging
periodically.
DESCRIPTION HISTORY
History of cataract surgery with placement of an Diagnostic Procedures/Other
A secondary glaucoma resulting from elevated
iris-sutured anterior chamber or a malpositioned Visual fields
intraocular pressure (lOP) due to intraocular lens
(IOL)-assodated chronic inflammation and recurrent posterior chamber IOL Pathological Findings
hyphemas Transient blurring of vision Sterile anterior segment inflammation and
Anticoagulation may exacerbate hemorrhage hemorrhage
EPIDEMIOLOGY associated with IOLinduced iris chaffing (1)[C]. Iris melanosames on IOL haptics
lnddence
Uncommon PHYSICAL EXAM DIFFERENTIAL DIAGNOSIS
Elevated lOP Trauma
Prevalence
Anterior chamber IOL Neovascular glaucoma
Unknown
Poorly positioned or subluxed posterior chamber IOL Uveitic glaucoma
RISK FACTORS Iritis Swan syndrome (elevated lOP and recurrent
Most common with iris-supported or closed-loop Hyphema or microhyphema hyphema associated with neovascularization of the
anterior chamber IOL.s corneoscleral surgical wound)
Iris transillumination defects
Malpositioned haptics of posterior chamber IOls Fuchs' heterochromic iridocyclitis
Posterior synechiae
Subluxed IOls Ghost cell glaucoma
Gonioscopy may be helpful in identifying
GENERAL PREVENTION malpositioned IOL haptics. Intraocular tumors (such as malignant melanomas)
Avoid using dosed-loop anterior chamber IOL.s Also perform gonioscopy to rule out resulting in recurrent hyphemas
Meticulous placement of posterior chamber lenses neovascularizatian/peripheral anterior synechiae of Juvenile xanthogranuloma
in the bag and appropriate lenses in the sulcus to the angle.
avoid poorly positioned haptics.
PATHOPHYSIOLOGY Lab
IOL-induced iris trauma leads to chronic intraocular Consider checking the PT/IN Rin patients on
inflammation and hemorrhage. anticoagulants to rule out supratherapeutic levels.
EnOLOGY Imaging
A poorly positioned IOL causes iris chaffing and leads Initial approach
to inflammation and hemorrhage, resulting in elevated Ultrasound biomicroscopy (2)[C] may be used to
lOP. identify IOL malpositioning and facilitate planning
COMMONLY ASSOCIATED CONDITIONS far surgical intervention.
Pseudoexfoliation Optic disc photography or imaging (confocal
scanning laser ophthalmoscopy, optical coherence
tomography, scanning laser polarimetry)
700
UYEITIS-GlAUCDMA-HYPHEMA (UGH) SYNDROME
IN-PATIENT CONSIDERATIONS 3. Magaragal LE, Goldberg RE, Uram M, et al.

. TREATMENT Initial Stabilization Recurrent mlaohyphema In the pseudophaklt ~
Control the lOP using the medications desc~bed Ophthalmology 1983;90;1231-1 234.
MEDICATION previously. 4, Carlson AN, Steward WC, Tso PC, Intraocular lens
RrstLine Admlulon Cllterla complications requiring removal ar exchange. Sruv
Atropine 1% Admission is rarely indicated. Consider admission if o,mthatmo/ 1998;42:417-440.
Topical steroids (e.g., prednisolone acetate) the lOP remains signifantly elevated despite topical
Topical beta-blockers (e.g., timolol, betaxolol), and oral medications. ADDITIONAL READING
alpha-2 agonists (e.g., brimonidine), andfor
carbonic anhydrase inhibitors (e.g., dorzolamide,
Discharp Criteria
Reasonable lOP Mamalis N, Crandall AS, Pulsipher MN, e1 al.
brinzolamide) Intraocular lens explantatlon and exchange: A
ContrDIIed eye pain
ProstaglandIn analogues (e.g., travoprost, review of lens styles, clinical lndIcations, clln leal
latanoprost, bimatoprost) may be used if other results. and visual outtDme. J Cataract Refract Surg
topical medications fail to provide adequate lOP ONGOING CARE 1991;17:811-818.
control. Mamalis N. Explantation of intraorular lenses. Cu"
FOLLOW-UP RECOMMENDATIONS Opin Ophthalmo/ 2000;11:289-295.
Secot~dUne
liming of follow-up is dependent on lOP control.
Oral or Intravenous carbonic anhydrase Inhibitors
(e.g., acetazolamide) l'lltient Monitoring
Intravenous hyperosmotics (e.g., mannitol) Periodically monitor lOP. optic nerve appearance. and . CODES
visual flelds..
PROGNOSIS ICD9
Issues for Refeml
I
variable depend!ng on: 364.41 Hyphema of iris and dIiary body
Consider referral to an experienced ame~or segment
- Time to diagnosis and treatment 365.62 Glaucoma assodated with ocular
surgeon if surgical inteM!ntion is warramed.
- Preexisting optic nerve damage Inflammations
SURGERYIOTHER PROCEDURES
Argon laser ablation of an isolated area of bleeding COMPUCATlONS
vessels may be attempted (3)[C]. Glaucamatous visuaI field loss CLINICAL PEARLS
Lens exchange or repositioning and/or ante~or Decreased acuity related to 10Lposition,
chamber washout is often required (4)[C). glaucomatous optic neuropathy, or both Recurrent hyphemas andfor iritis in a pseudophakic
patient should prompt the dinician to rule out iris
Trabeculectomy or tube shunt if lOP remains
and angle neovascularization and carefully evaluate
uncontrolled REFERENCES IOL position.
Ultrasound blomlaascapy may be useful In
1. Schiff FS. Coumadin related spontaneous hyphemas
in patients with iris-fixated pseudophakos. assessing the position of pos1eflor chamber IOLs..
OphthalmicSurg 1985;16:172-173. Topical steroids, cydoplegics, and lOP-lowering
2. Piette s. Canlas OA. Tran HV, et al. Ultrasound medications are the flrst line of treatment of
uveitis-glaucoma-hyphema (UGH) syndrome but
blomlaoscopy In uveltls-glauc.oma-hyphema
syndrome. Am J Ophthalmol 2002;133:839--841. definitive management may requIre IOL
reposition lng or exchange.
701
VITAMIN A DEFICIENCY/XEROPHTHALMIA
Marlon Maus

Adequate vitamin A intake, preferably through a
balanced diet
~ DIAGNOSIS
DESCRIPTION The Food and Nutrition Board at the Institute of HISTORY
Xerophthalmia (Greek. for dry eyes) is a condition of Medicine recommends tile following: A history of malnutrition or malabsorption leading
severe dry eye generally referring to the disease - Infants 40G-500 /kg/day to a VAD state
caused by vitamin A deficiency (VAD). - Children 30Q-600 /kg/day Night blindness is an early symptom.
Other conditions can also be associated witll dry -Adolescents and adults 70D-900 jLg/day Dry eyes can usually be diagnosed by the symptoms
eyes (keratoconjunctivitis sicca). (See Differential -Women who are pregnant or producing breast alone: dryness. foreign body sensation, burning,
Diagnosis.) milk (lactating) need higher amounts. itching, ocular pain, mucus formation, red eye,
Ocular signs of xerophthalmia due to VAD include visual disturbances, and easily fatigued eye.
PATHOPHYSIOLOGY The diagnosis of xerophthalmia is mostly clinical,
night blindness, conjunctival and corneal xerosis Vitamin A is a fat-soluble vitamin ingested in the diet
(dryness), Bitot's spots, keratomalacia, corneal and a high degree of suspicion is required.
in two forms: as retinol itself from animal sources or
ulceration, corneal scars, and retinal changes.
as the provitamin carotene from plant sources. PHYSICAL EXAM
VAD is a major public health nutrition problem in A slit lamp examination should be performed to
Adequate body stores of zinc and protein are
the developing world particularly Soutllern Asia and diagnose dry eyes and to document any damage to
necessary for tile formation of retinol-binding
Africa. It especially affects young children also protein (RBP), without which vitamin A cannot be the eye.
causing limited growth, weakened immune
transported to its target tissues. A Schirmer's test can measure the amount of tears
defenses. and increased risk of death.
- In the retina, vitamin A serves as a precursor to bathing the eye. This test is also useful to determine
EPIDEMIOLOGY the visual pigments of the photoreceptors. the severity of the condition. A 5-minute Schirmer's
lnddence - It is necessary for conjunctival mucosa and corneal test, using a standard 5 x 35-mm paper strip, with
Clinical xerophthalmia is extremely rare in the U.S. and stromal integrity. and without anestllesia showing wetting under
other developed countries. VAD leads to atrophic changes in the normal 5 mm is considered diagnostic for dry eyes (1)[B].
mucosal surface, with loss of goblet cells, and
Prevalence A tear breakup time {TBUT) test measures the time it
replacement of tile normal epithelium.
The WHO reported 2.8 million preschool children with takes for tears to break up in the eye. A breakup
dinical xerophthalmia worldwide accounting for ETIOLOGY time of less than 10 seconds is considered abnormal.
20,00Q-100,000 new cases of childhood blindness VAD Abnormal staining of the cornea and conjunctiva
each year. with fluorescein or rose bengal 1% is also a useful
RISK FACTORS Protein deficiency diagnostic test.
VAD particularly when associated with protein Main utrition DIAGNOSTIC TESTS & INTERPRETATION
deficiency lm mune deficiency Lab
- Children aged 1-ii years and pregnant women are Serum vitamin A levels of 35 /Lmol/dl or less (2)
especially at risk.. Total and holo-RBP (complex of vitamin A and RBP)
- Patients with AIDS may be at greater risk for VAD. for serum RBP tend to correlate witll measures of
-Vegan and other severe dietary restrictions may serum vitamin A (3)[C].
also pose a greater risk for deficiency.
Conjunctival impression cytology is a technique
useful for detecting preclinical xerophthalmia. It is a
noninvasive method of obtaining a specimen to
assess the histological appearance of the superficial
conjunctival layers.
702
VITAMIN ADEFICIENCYIXERDPHTliAlMIA
Pathological Findings lssllfls for llfl,.,ral COMPLICA110N5

Conjunctival biopsy shows epidermidalization with Corneal and conjunctival ulCErS, bacte~allnfectlons, Permanent comeal scarring with loss of vision and
surface keratinization; a reduction of goblet cell and corneal melting all require Immediate care by an even loss of an eye from perforation and Infection
density and squamous metaplasia can also be ophthalmologist. Retinal changes also may need to can result from advanced or untreated disease.
documented with impression cytology. be attended to. If decreased visual acuity is not addressed in young
DIFFERENTlAL DIAGNOSIS Assodated conditions, such as immune deficiency, children permanent amblyopia may develop.
The differential diagnosis includes other conditions malnutrition, and malabsorption syndromes may
that can be associated with dry eves requIre subspecialty referral.
(keratoconjunctivitis sicca) such as radiation, Sj!lgren'
REFERENCES
s syndrome, systemic lupus erythematDsus, Surgery plays a Iimited role in xerophthalmia. 1. Horwath-Winter J, Berghold A. Schmut 0, et al.
rheumatoid arthritis, scleroderma. sarcoidosis, K'ellltomalacia (corneal melting) is usually Evaluation of the dinical course of dry eye
amyloidosis, hypothyroidism, and the use of some inoperable and mostly residual, visually significant syndrome. Arch Ophthalmo/2003; 121 (1 0):
medications including antihistamines. nasal scars are amenable to corneal transplants. 1364-1368.
decongestants, tranquilizers, and antidepressant. Many patients In developing countries are generally 2. World Health Organization. Report of a joint
too weak. and malnourished to tolerate surgery. WHOJUNICEF/USAAID/HIOIIVACG meeting.
Control of VItamin A deficiency". Geneva,
TREATMENT Switzerland: World Health Organization, 1982.
MEDICATION
ONGOING CARE 3. Smith J, Stelnernann TL. VItamin A defldency and
FOLLOW-UP RECOMMENDATIONS the eye./nr Ophtha/mo/ Clin 2000;40:83-91.
OraI treatment consists of 100,000 IU of vitamin A in
Repeated external ophthalmic and funduscopic 4. Sommer A. Muhilal H, Tarwotjo I. Protein deficiency
all followed the next day with an add ltlonal dose of and treatment of xerophthalmia. Arch Ophthalrnol
200,000 IU (4)[8). In the presence of severe corneal exams are warranted to document adequate,
sustained healing and prevention ofrelapses. 1982;100:785-787.
disease or malabsorption, the preferable dose is
100,000 IU water-miscible vitamin A intramuscularly In d1ildren, sustained healing of severe 5. Sommer A, Tarwotio I, Muhilal, et al. Oral versus
followed the next day and every 1 to 2 weelcs with an xerophthalmia requires addressing ti1e underlying Intramuscular vitamin A In the treatment of
oral dose (5)[8]. protein deficiency. xerophthalmia. Lancet 19l!0;315:557-559.
6. Sommer A. Treatment of corneal xerophthalmia
ADDITIONAL TREATMENT DIET
I
with topicaI retinoic add. Am J Ophthalmol
Generall'tfeuutes VItamin A comes from animal sources, such as eggs, 1983;95:349-352.
Supportive treatment of symptoms usually includes meat, milk, cheese, cream, liver, kidney, cod, and
use of artifidal tears in the form of eve drops. halibut fish oil.
increasing the humidity of the environment with Vegetable sources of beta-carotene are carrots, ADDI110NAL READING
humidlflers, use of goggles, and wea~ng pumpkin, sweet potatoes. winter squashes.
wraparound glasses when outdoors to minimize the cantaloupe. pink grapefruit, apricots, broccoli, Calonge M. The treatment of dry ete. Surv
effects of wind. spinach, and most dark green, leafy vegetables. lhe Ophthalrnol 2001 ;45(S2):S227-S239.
Lacrimal drainage punctaI plugs can be used to more intense the color of a fruit or vegetable, ti1e Sommer A. VItamin A deficiency and clinical disease:
increase the tear lake. higher the beta<arotene content. Bioavailabil ity of A historical overview. J Nut! 1008;138:1835-1839.
Prevention and treatment of secondary bacterial vegetable soun::es may be less than that of animal
sources.
Infections from ulcers
Strains of genetically modified rice rich in vitamin A . CODES
Topical retinoic add (0.1%) can be used to promote have been developed to help decrease deliciendes
healing; however, this can increase scan ng so it in developing countries. ICD9
should be used with caution (6)[8]. 264.8 Other manlfest<~tlons of vitamin a defldency
PROGNOSIS
Response to adequate therapy is quide. and often 372.53 Con]unctlval xerosis
dramatic. Night blindness and corneal signs and
syrnptDms resolve very rapidly partlwlarly In less
advanced disease.
In the absence of severe corneal scarring, visual
acuity can be 9pected to recover completely.
703
VITREORETINAL lYMPHOMA
Carol L. Shields
Molecular gene analysis: Immunoglobulin heavy
chain (lgH) gene rearrangement demonstrated by
polymerase chain reaction can be used to establish
DESCRIPTION HISTORY monoclonality of B-celllymphoma. t (14:18)
Vitreoretinallymphoma (VR lymphoma) is a Patients present with symptoms of floaters or translocation involving the bcl-2 gene has also been
high-grade type of non-Hodgkin's lymphoma that blurred vision. reported.
involves the retina and vitreous. Eye pain, redness, and photophobia are uncommon. Cytokine analysis: High levels of interleulcin-1 0
The term "primary intraocular lymphoma is PHYSICAL EXAM (IL-1 0) are seen in the vitreous of eyes with RV
commonly used in the literature to refer to this The most common features of VR lymphoma include lymphoma, whereas ll-6 (and ll-12) is increased in
condition. This term is somewhat of a misnomer and chronic vitreous cellular infiltration and yellowish eyes with inflammatory conditions. ll-1 O:ll-6 ratio
should be avoided as uveal lymphoma (a distinct sub-retinal pigment epithelium (RPE) infiltrates in > 1.0 is suggestive of B-celllymphoma.
clinical entity) can be primary and is also intraocular. combination or as isolated findings. Pathological Findings
EPIDEMIOLOGY - Sub-RPE infiltrates are initially small and focal and Majority of VR lymphomas are B-cell non-Hodgkin
Incidence might resemble soft drusen but can enlarge and lymphomas subtyped as diffuse large B-cell
VR lymphoma is rare with an estimated incidence of coalesce into larger plaques over time. lymphoma, according to the World Health
30--50 cases per 10 million population. - Resolution of sub-RPE infiltrates is usually Organization lymphoma classification.
accompanied by residual RPE atrophy. The malignant cells are medium to large
There has been an increase in the incidence of VR
- Spontaneous resolution of sub-RPE infiltrates has pleomorphic cells with high nuclear/cytoplasmic
lymphoma within the past several decades in both
rarely been reported. ratios and prominent nucleoli.
the immunocompetent and immunocompromised
populations. Other less common findings include anterior Sample for analysis can be obtained from the
chamber reaction, keratic precipitates, vitreous vitreous (needle biopsy, vitrectomy) or from the
RISK FACTORS hemorrhage, retinal vascular infiltration, and optic sub-RPE infiltrates (needle biopsy, chorioretinal
Immunodeficiency states: Organ transplantation, disc edema. biopsy).
HIV infection, and congenital immunodeficiency. 80% of cases are bilateral but ocular involvement -The obtained sample should be handled with care
Age: VR lymphoma primarily affects the can be asymmetrical. and transferred to the laboratory as quickly as
middle-aged and elderly, although cases in children PCNS lymphoma generally affects the frontal lobe. possible to minimize degeneration of fragile
have been reported. - Neurologic findings include behavioral and lymphoma cells.
Genetics cognitive changes (most common), headache, - Use of cell culture media instead of saline can
See "Molecular gene analysis" under "Diagnostic seizure, hemiparesis, cerebellar dysfunction, and increase the diagnostic yield.
tests and interpretation. cranial nerve palsies. - Prior steroid treatment can induce lysis of
DIAGNOSTIC TESTS & INTERPRETATION lymphoma cells. Discontinuing steroid use before
EnOLOGY biopsy may increase the diagnostic yield.
Infection by Epstein-Barr virus, herpesvirus, and Lab -The malignant cells are accompanied by large
Toxoplasma gondii has been implicated in the All patients with suspected VR lymphoma require numbers of non-neoplastic cells (small reactive
induction of primary central nervous system (PC NS) or cerebrospinal fluid (CSF) analysis to exclude PCNS lymphocytes, histiocytes) and necrotic debris
VR lymphoma, but results are inclusive at this time. lymphoma. making detection of lymphoma cells more
- 25% of patients with brain lesions identified on challenging.
COMMONLY ASSOCIATED CONDITIONS magnetic resonance Imaging (MRI) have
PCNS lymphoma: VR lymphoma is strongly - Multiple tissue biopsies may be required to
lymphoma cells in their CSF. establish the correct diagnosis.
associated with and is considered a subtype of
PCNS lymphoma. Imaging
All patients with suspected VR lymphoma require DIFFERENTIAL DIAGNOSIS
- It is estimated that of patients with PCNS Inflammatory/infectious conditions (Multifocal
lymphoma, 15--25% have VR lymphoma at CNS imaging to exclude PCNS lymphoma.
choroiditis, bird-shot chorioretinitis, acute posterior
diagnosis and another 25% develop VR -Brain lesions are low signal on T1-weighted and
multifocal placoid pigment epitheliopathy, multiple
lymphoma during subsequent follow-up. high signal in T2-weighted MRI images.
evanescent white dot syndrome,
- 60--80% of patients presenting with VR Diagnostic Procedures/Other Vogt-Koyanagi-Harada syndrome, toxoplasmosis,
lymphoma will develop PCNS lymphoma. sarcoidosis, tuberculosis, syphilis, viral retinitis,
Systemic lymphoma: VR lymphoma secondary to Routine cytology: Allows evaluation of cell
morphology (see under "Pathological findings") etc)
systemic lymphoma is rare. - RV lymphoma is the most common cause of
- Intraocular lymphoma secondary to systemic (1)18].
masquerade syndrome and should be considered
lymphoma generally affects the uvea (see lm munophenotyping (immunohistochemistry): Uses in the differential diagnosis of chronic ocular
"Choroidal metastasis" under "Differential monoclonal antibodies to analyze surface markers of inflammatory conditions in the elderly.
diagnosis"). lymphoma cells (CD19+, CD20+, CD22+, - VR lymphoma can initially and temporarily
CD79a+, BCL-2+, MUM1/IRF4+, BCL-6+)to respond to steroid treatment with decrease in
establish B-cell monoclonality. vitreous cells and improvement of symptoms
- Can be performed on slide-mounted sample or leading to misdiagnosis of inflammatory condition.
with flow cytometry. Choroidal metastasis: Multifocal choroidal
-light-chain immunoglobulins (kappa or lambda) metastasis can simulate the sub-RPE infiltrates of
are other cell surface markers that can be studied lymphoma but lacks the vitreous cellular infiltration.
by immunohistochemistry; ratio of kappa/lambda
or lambda/kappa >3 is suggestive of B-cell
lymphoma.
704
VITREDREnNALLYMPHOMA
ChoroidaI lymphoma: Is a distinct entity and FlrstUne REFERENCES

although most cases present with diffuse Low-dose EBRT (3 5-40 Gy) has been shown to be
homogenous choroldaI thicken lng, some can vety effective In treatment of VR lymphoma (3)[8]. 1. Raparia K, Chang CC, Chl!vez-Banios P. Intraocular
manifest yellowish-ange multifocal dloroidal - Radiation complications are generally mild and lymphoma: Diagnostic approad1 and
infiltrates that can be confused with the sub-retinaI toler.~ble and indude dry eye. cataract. and lmmunophenotyplc flndl ngs In vltrectomy
infiltrates of VR lymphoma. Features of dloroidal radiation retinopathy. spedmens. Ard! Pathol lab Med 2009;133:
lymphoma that help differentiate it from VR 1233-1237.
SecottdUne
lymphoma lnclude: 2. Jahnke K. Korfel A. Komm J, et al. lntraOOJiar
- Can be associated with anterior epibuIbar lntravltreal MTX (400 mcg/0.1 ml) has been used lymphoma 200D-2005: Results of a retrospective
(subconjunctival) emnsion of lymphoma successfully for treatment of VR lymphoma (4)]8]. muldcentre trial. Graefes ArdJ Clln Exp Ophtilalmol
manifesting as salmon patches - Requires multiple injections of intravitreal MTX 2006;244:66~69.
- Does not manifest significant vitreous cellular over many montfls. 3. Berenbom A. Davila RM, Lin HS, et al. Treatment
infiltration outcomes for primary intraOOJiar lymphoma:
- B-scan ultrasound generally shows acoustically - Is associated with com pi ication5 such as corneal Implications for external beam ll!diotherapy. Eye
hollow diffuse choroidal thickening with lc"eratopathy, cataract, neovascular glaucoma, and 2007;2t :1198-120t.
occasional posterior epibulbar (extraoallar) inflammatory reaction
- lntravitreal rituximab (1 mg/0.1 ml.) has been 4. Frenkel 5, Hendler K. Siegal T, et at. lntlavltreal
extension of tumor. In contrast. eye wall methotrexate for treating vitreoretinallymphoma:
thidcening seen on B-,scan ultrasonography of VR used in limited number of patients but long-term
safety and efficacy is not yet known (5) ]B). 10 years of experience. Br J Ophthalmol
lymphoma is generally focal and less pronou need 2008;92:383-388.
witl1 no extraocular extension. SURGERY/OntER PROCEDURES
- In contrast to VR lymphoma, which is highijrade Complete pa~ plana vitrectomy not only provides
and aggressive, choroidal lymphoma is low-grade enough vitreous sample for diagnostic procedures (see ADDITIONAL READING
and slowly progressivl! with good life prognos~ under "Diagnostic tests & interpretation"), but also
-Has no association with PCNS lymphoma but<an allows earlier visual rehabilitation in patients with Choi JY, Kafltala C, Foster CS. Primary intll!OOJiar
be assodated with systemic non-Hodgkin's sewre vitreous haziness. lymphoma: A review. Sem/n Ophtha/md
lymphoma, especially In some bilateral cases 2006;21: 125-133.
Coupland SE, Chan CC, Smith J. Pathophysiology of
$ ONGOING CARE retinal lymphoma. Ocullmmunollnflamm V
. TREATMENT FOLLOW-UP RECOMMENDATIONS
2009;17:227-23 7.
Coupland SE, Damato B. Understanding Intraocular
MEDICATION l'etient Monitoring lymphomas. Clin Experiment Ophtilalmol
PCNS Lymphoma All patients w1th Isolated VR lymphoma are at high 2008;36: 564-578.
risk for dewlopment of PCNS lymphoma and require
FimLine long-term CNS monitoring.
Patients with PCNS lymphoma are usually treated
o Regardless of the method of treatment, all patients
with high-dose intravenous mflhotrexate (MTX)
with treated VR lymphoma require close OOJ!ar
. CODES
with or withcut intrathecal d1emo1herapy or
whole-brain radiation. monitoring for early detection of lymphoma
recurrence and for treatmem complications. ICD9
- Combined chemotherapy and radiotherapy offers 201>.50 Primary central netVOus system lymphoma,
a better IHe prognosis compared with PATIENT EDUCATION unspecified site, extranodaI and solid organ sites
radiotherapy alone but is associated with high Patients should report any onsfl of new or recurrent
rates of delayed neurotoxidty especially in OOJ!ar symptoms (see in "Symptoms under
patients > 60 years of age. "Diagnosis") or neurologk symptoms (see in "Physical CLINICAL PEARLS
SecondUne exam under Diagnosis") without delay.
VR lymphoma Is me most common cause of
Newer agents used for systemic treatment of PCNS www.fighteyecancer.com masquerade syndrome and should be considered in
lymphoma, usually in combination with high-dose o www.eyecancerinlo.com the differential diagnosis of all cases of d1ronic
MTX. include: posterior uveitis, especially in the elderly.
- Rituximab (anti-CD20 antibody) PROGNOSIS
Presence of PC NS lymphoma imparts a poor Because of high rate of deYelopment of PCN S
-lfosfamidellrofosfamide (nitrogen mustard lymphoma (up 10 80'Yo), patients presenting with
prognosis for life (2-3 years}.
alkylating agents) Isolated VR lymphoma require regular long-term
Extensive macular sub-RPE infiltrates lead 10
VRI.ymphoma manitoring for CNSinvolvement.
development of macular RPE alterations and are
There is no general agreement on the optimal assodated with poor a visual prognos~
treatment for VR lymphoma.
Patients with combined VR and PCN Slymphoma
require systemic/CNS therapy as described above.
Treatment options fur patients w1th Isolated VR
lymphoma include systemic chemotherapy, local
OOJ!ar ther.~py (radiation, intravitreal injection), or a
combination of both (2)[8].
705
VOGT-KOYANAGI-HARADA'S SYNDROME (UVEOMENINGinS]
Sunir J. Garg
Lab
Rule out other causes: Syphilis (FTA-ABS), Lyme titers,
DESCRIPTION HISTORY Tuberculosis (PPD), Sarcoid (ACE, Chest x-ray/CD
Bilateral granulomatous panuveitis with sk.in, Usually CNS findings first.
meningeal, and auditory-vestibular involvement History of blurred vision in one or both eyes, ocular Imaging
pain, photophobia, and floaters. Initial approach
Usually occurs in more darkly pigmented individuals
Fluorescein angiography (FA) is very helpful-
CNS: Heartache, stiff neck, periocular discomfort,
EPIDEMIOLOGY delayed choroidal filling with pinpoint areas of
vertigo, tinnitus, and dysacusis
Incidence hyperfluorescence later (starry sky) and optic disc
Later findings: Hair loss; skin/hair depigmentation, leakage
Rare sensitivity to touch of the hair/skin
More common in young patients (teens to early 40s) B-scan ultrasonography: Nonspecific choroidal
The American Uveitis Society criteria for VKH are: thickening (helps to distinguish from posterior
Slight female preponderance - No history of ocular trauma
Occurs more often in the Spring and Fall scleritis, uveal effusion syndrome, choroidal
- No oltler evidence of anomer disease process metastasis)
Prevalence - Early or late ocular disease as Iisted below
Optical coherence tomography may show exudative
Very uncommon - Neurologidauditory findings (subjective or
retinal detachment (nonspecific).
objective)
RISK FACTORS - Skin findings: Poliosis, vitiligo, alopecia Follow-up & special considerations
Occurs most commonly in patients from the Middle Weekly until inflammation under control, then every 3
East, South and East Asia, Latin America, and in PHYSICAL EXAM months until off immunosuppression and
Native Americans Bilateral granulomatous panuveitis, often with inflammation free.
Rarely seen in Caucasians or patients from Africa serous retinal detachments, dense vitreitis. optic disc
edema, and Dalen-Fuchs nodules Diagnostic Procedures/Other
Genetics - In chronic disease, disturbance of tile retinal lumbar puncture: Pleocytosis occurs in up to 84%
HLA-DRB 1*0405, HLA-DR4, and HLA-Dw53 have pigment epithelium can cause a sunset glow of patients.
been identified as risk factors. fundus Detailed auditory testing to rule out other causes of
PATHOPHYSIOLOGY - Skin findings of poliosis, vitiligo, alopecia central hearing loss
T-cell mediated autoimmune disorder against -Auditory dysfunction
melanocytes, specifically against tyrosinase and
tyrosinase-related proteins.
EnOLOGY
Unknown. Epstein-Barr virus has been suggested as a
possible trigger, and injury to the skin has also been
suggested as an inciting injury.
See Diagnosis. signs and symptoms.
706
YDGT-KDYANAGI-HARADA'S SYNDROME (UVEOMENINGITlS)
Patholog/GIJ Findings ADDITIONAL TREATMENT ADDITIONAL READING

Diffuse granulomatous inflammation of the choroid Issues for Refeml
with sparing of the cho~ocaplllarls (In contrast to Prompt referral to a IM!itis spedalist. Read RW, Holland GN, Rae NA. et al. Revised
sympathetic ophthalmia). diagnostic aitE!ia for VogtKoyanagiHarada
SURGERY/OTHER PROCEDURES disease: report of an international committee on
DiffERENTIAL DIAGNOSIS Cataract surgery: The eye should be Inflammatlon nomenclature. Am J O{iltha/mci 2001; 131 (5):
Sympathetic ophthalmia (history of OOJiar free for 3 months before surgery. Patients may still 647~52.
trauma/surgery) develop posterior synechiae. Lertsumttkul S, Whlttup SM, Nus.senblatt RB, et al.
Central serous chorioretinopathy Uncommon. For complications of Vt::H: Draining Subretinal fibrosis and dloroiral neOYaSCUiarization
Uveal metastasis chronic subretlnal fluid, subfoveal choroidal in VogtKoyanagiHarada syndome. GraefesA!Ch
Idiopathic IM!al effusion neovasrular membrane therapy with intravitreal 0/n Exp Ophthatmol1999;237:1 029-1045.
Pasll!riar scleritis injection of antiVEGF agent photodynamic therapy.
Sa rcoldosls or submacular surgery
Syphilis INPATlENT CONSIDERATIONS ( t coDES
Lyme Initial Stabilization
Tuberculosis Hlgh dose corticosteroids. ICD9
Orular lymphoma 360.12 Pan uveitis
364.24 Vogtlcoyanagi syndrome
ONGOING CARE
. TREATMENT FOLLOW-UP RECOMMENDATIONS
Every week until inflammation free, then every 3 CLINICAL PEARLS
MEDICATION
First Line months until irrllammation free off immunosuppressive Bilateral granulomatous panuveitis with skin,
Prompt, aggressive corticosteroid treatment Is critical medications. meningeal, and auditory-wstibular involvement
(approximately 1-2 mg/kgld initially). 1V PROGNOSIS m
Patients must have no history ocular trauma.
corticosteroids may hasten resolution and should be Guarded. Prompt. aggressive therapy with use m Aggressive systemic treatment is very effective in
considered in severe cases. If inflammation present for steroid sparing agents can be vision saving. preventing vision loss.
more than 2-3 months on more than 10 mg daily,
I
consider second Iine agent. COMPLICATlONS
Permanent vision loss
SecondUne Cataract fomnation, glaucoma, dlronir ll!linal
As patients may have inllammation for many detachment. subretlnal flbrosls, subfoveal choroidal
months or years. given the risks of chronic neovasrular membrane formation can oc.GJ r.
predn lsone use greater than 10 mg/d, early use of
immunomodulatory therapy should be strongly
considered.
Agenl!i such as azathioprinl!, mymphenolate mofeliI
(CeiiCept), cyclosporlne, and anti-Tumor Necrosis
Factor (TNF) agenl!i (Remicade and Humira) are
effective.
A steroid Implant (Retlsert, fluodnolone acetonlde,
Bausch and Lorn b) may be considered.
707
VON HIPPEL-LINDAU DISEASE
Jeremy D. Wolfe
Alok Bansal
~ BASICS
COMMONLY ASSOCIATED CONDITIONS - Reddish~range circumscribed tumor (one or
Hemangioblastoma more)
-Retinal - Progressive enlargement
DESCRIPTION -Cerebellar - Dilated, tortuous feeding, and draining vessels
Von Hippei-Lindau (VHl) disease is an inherited - Spinal cord - lntraretinal and subretinal exudation (frequently in
cancer predisposition syndrome characterized by Visceral lesions macula)
various tumors affecting multiple organ systems (see - Renal cell carcinoma - Possible tractional retinal detachment
'Commonly Associated Conditions'). - Pheochromocytoma Juxtapapillary
The primary ophthalmic finding, retinal capillary - Renal cysts - less common
hemangioblastoma, is common; it is frequently an - Pancreatic cysts - May appear as discrete red/pink lesions at the disc
early manifestation of VHl disease. - Islet cell tumors margin (endophytic) or as diffuse gray/pink
EPIDEMIOLOGY - Epididymal cystadenoma thickening that may blur the disc borders
- Bilateral endolymphatic sac tumors (exophytic)
lnddence -Adnexal papillary cystadenoma of probable Systemic/visceral
1 in 40,000-54,000 live births (1 ,2) mesonephric origin (APMO) - CNS hemangioblastoma
Prevalence o Cerebellum (75%) and spinal cord (15%) are
VH l disease is rare, affecting approximately
7,000 patients in the US (3) ~ DIAGNOSIS most common locations
- Pheochromocytoma
Retinal capillary hemangioblastomas is found in HISTORY o Typically bilateral and multiple in VHl disease
approximately 37-59% of patients with VHl (3,4) Family history is paramount as VH l is inherited in an o Palpitations, anxiety, headaches, sweating,
RISK FACTORS autosomal dominant manner, however, full hypertension
penetrance does not occur until approximately age - Renal cysts
Genetics o Potential malignant transformation
Autosomal dominant 65 years. If history is equivocal consider examination
of family members. - Renal cell carcinoma
High penetrance o Bilateral in large majority (90%) of cases in VH L
Chromosome 3 (3p2 5-26) A detailed review of systems may reveal complaints
related to any of the potential associated disorders disease
o Typically lack pain or hematuria
GENERAL PREVENTION (see 'Commonly Associated Conditions'). However,
Genetic counseling - Pancreatic cysts
many of the associated conditions are asymptomatic
o Secretory versus non-secretory
PATHOPHYSIOLOGY in VHl disease and therefore screening protocols
- Cystadenoma of epididymis or broad ligament
The VH l gene functions as a tumor suppressor gene. have been developed (see Follow-up
o Asymptomatic and largely benign
Recommendations').
Tumor formation results from lack. of function of the o Rarely a cause of infertility
gene. PHYSICAL EXAM - Endolymphatic sac tumor
Tumor formation thought to follow two-hit model Classification of retina I capillary hemangioblastomas o locally aggressive, benign cystadenoma
(similar to retinoblastoma). is based on location. o May present with impaired hearing, tinnitus,
Clinical phenotype of ocular manifestations in VHl Peripheral endophytic and vertigo
may vary based on precise gene mutation (4). - Most common
708
YON HIPPEL-UNDAU DISEASE
DIAGNOSnC TESTS & INTERPRETAnON DIFFERENTIAL DIAGNOSIS PROGNOSIS

Lab Retinal Capillary Hemangioblastoma Risk of SE'vere bilateral vision loss (legal blindness) Is
Urlnary cated1 olam lnes Coats' disease low {approximately S%).
Genetic evaIuation Racemose hemangioma Risk of severe unilateraI vision loss (201200) is
o Retinal arterial macroaneurysm approximately 25%.
Imaging -Risk increases with age, juxtapapillary tumors. and
Initial appi'OIIdl o Retinal cavernous hemangioma
increased tumor number.
Fundus photos o Vasoproliferative tumor
Morbidity/mortality commonly assodated with CNS
Fluorescein angiography (FA) lesions or renal cell carcinoma.
- Rapid arterial phase - Average Iife expectancy af approxi mall!ly SO years
- Diffuse leakage in mid and late lram es TREATMENT
-Appropriate screening may reduce morbidity and
Systemic evaluation SURGERY/OTHER PROCEDURES mortality.
- BraIn/splne MRl Most common proceduresltllerapy
-Abdominal CT/MRVultrasound - Laser photocoagulation
Follow-up a specl1l consld111t1ons - Cryotllerapy REFERENCES
May use retinal fundus photos to follow progression or Less common procedures/therapy
assess response to treatment for retinal capillary 1. Maher ER, Iseli us L, Yates JR. et al. Von
- Photodynamic therapy Hippel-lindau disease: A genetic study. J Med
hemangioblastcma. - EKternal beam radiotllerapy Genet 1991 ;28:443--447.
Dlagnostk l'rtx:edures/Other - Proton beam radiotherapy 2. Neumann HP, Wiestler OD. Clustering of features
Ultrasonography (ocular) - Plaque radiotherapy of von Hippel-l.indau syndrome: Evidence for a
- Acoustlca lly solid wltll va~able reflectMty New or experimental therapy (4)[C] complex genetic locus. LancN 1991;337:
(medium or high reflectivity) -Systemic anti-VEGF 1052-1054.
CT -Local ami-VEGF 3. Singh AD, Shields CL, Shields JA. Von Hlppei-L!ndau
- 1hin section, contrast enhanced CT is sensitive for VisceraVsystemic disease. Surv Ophrha/mo/ 2001;46: 117-142.
early renal lesions - CNS angiomas are typically obseNed but may be 4. Wong WT, Chew EY. Ocular Von Hippei-Lindau
MRI surgically excised if symptomatic disease: Clinical update and emerging treatments.
- Most useful for detecting CNS hemangioblastoma
- HyperintEnse on T1
-Small renal cell carcinomas (<3 em) may be
observed, larger lesions are typlca lly removed with
Cu~rOfin Ophtfla/mo/2DD8;19:213-217.
5. Choylce PL. Glenn GM, Walther MM, et al. Von
v
- Hypoinll!nse on T2 nephron-sparing surgery
- Functional pheochromocytomas are excised with Hlppei-Lindau disease: Genetic, clinical, and
- Enhance with conllast imaging features. Radio/r'Jflf 1995; 194:629-642.
Diagnostic Criteria adrenal spa ring surgery
-Based upon presence of retinal or CNS caplllaiY - Early removal of endolymphatic sac tumors may
hemangioblastoma, visceral lesions, and family prevent hearlng loss
history
CODES
- With positive family his!Dry, only 1
hemangioblastoma (retinal or CNS) or visceral $ ONGOING CARE ICD9
lesion required 759.6 Other congenital hamanoses. not elsewhere
FOLLOW-UP RECOMMENDATIONS dassifll!d
- Negative family history req ulres 2
hemangioblastomas or a hemangioblastoma and Patients with or at risk for VHL (5)[8I
a visceral lesion - Ophthalmoscopy yearly
NationaI Cancer Institute dassification - Urinary catecholamine yearly
CLINICAL PEARLS
- Type I - Pheochromocytoma absent - MRl of brain and spine eveI)' 2 years VHL is a cancer predisposition syndrome
- Type II - Pheochromocytoma present (further - Abdominal ultrasound every year charactErized by multiple tumors including retinal
subdivisions of Type II exist) - Abdominal CT every 1-2 years capillary hemangioblastnma, CNS
l'atholog/GII Findings o Ophtllalmologist (likely retina or oncology) to follow hemangioblastoma, pheochromocytoma, and renal
Spindle cells. small blood vessels. clear stromal cells ocular lesions and implement trNtment when cell carcinoma.
StromaI cells appear to be cells of origin appropriate Following appropriate follow-up and screening
Referral to geneticist and/or oncologist with an protocols may reduce morbidity and mortality.
interest/expertise in VH L o Multiple treatments exist for retinal capillary
hemangioblastomas, with a good overall visual
prognosis.
709
WEGENER'S GRANULOMATOSIS
Bhairavi V. Kharod
Lab
cANCA blood test in the presence of signs and
DESCRIPTION HISTORY symptoms of Wegener's granulomatosis is highly
Wegener's granulomatosis is a necrotizing vasculitic The onset of Wegener's granulomatosis is variable;
suggestive of this disease. ANCA is reported to be
syndrome of small-sized blood vessels that affects it may be indolent or may have a rapid and severe positive in only 67% of patients with Wegener's
multiple organs. onset. granulomatosis.
Most commonly affected organs include kidney, Approximately 80-90% of patients have symptoms
Anemia, mild leukocytosis, and elevated ESR are
lung, upper respiratory tract, eyes, ears, and skin. of a cold, runny nose, or sinusitis that fail to respond
nonspecific findings.
Dr. Friedrich Wegener first described the disease in to therapy or last longer than usual.
Urinalysis may also show hematuria, erythrocyte
1936. Patients may report nasal membrane ulcerations and
casts, and proteinuria in patients with
crusting, hearing problems, decline in vision, cough
EPIDEMIOLOGY glomerulonephritis.
(with or without hemoptysis), rash and/or skin sores,
lnddence fever, malaise, loss of appetite, weight loss, Imaging
The reported annual incidence of Wegener's arthralgias, night sweats, and hematuria. Initial approach
granulomatosis is 10 per million population. Chest radiographs may show infiltrates, nodules.
PHYSICAL EXAM masses. or cavities. The presence of hilar adenopathy
Prevalence Ophthalmic findings:
The prevalence of Wegener's granulomatosis in the US alone is not compatible with the diagnosis of
- Ocular symptoms are the first manifestation in Wegener's granulomatosis.
is approximately 3 per 100,000 persons. 20% of patients. Approximately half of the
patients with Wegener's granulomatosis develop Follow-up & special considerations
RISK FACTORS CT of the chest is more sensitive than chest
Wegener's granulomatosis is primarily a disease of ocular involvement over the course of the disease.
- Orbital involvement has been reported in 45-70% radiography and can often show abnormalities in
Caucasian patients and rarely affects African the presence of a normal radiograph.
Americans. of patients. Orbital inflammation can cause pain,
diplopia, proptosis, and loss of vision. Sinonasal CT studies should include both soft tissue
A slight male preponderance is also reported. and bone algorithms. Findings include mucosal
- Common ocular findings include tearing due to
Genetia nasolacrimal duct obstruction, peripheral thickening, opacification, air-fluid level, bony
Some alleles have been identified as protective factors ulcerative keratitis. scleritis, and episcleritis. destruction (mainly of the nasal septum), and
against Wegener's granulomatosis, although further -Uveitis, retinal vasculitis. retinal artery occlusion, sclerosing osteitis.
research is being performed to identify any genetic optic nerve vasculitis, optic neuropathy, restricted Orbital MRl may demonstrate granulomatous
association. movement of extraocular muscles, yellow eyelid infiltration of the orbit.
GENERAL PREVENTION lesions, and conjunctival scarring may also be MRl of the brain may show diffuse linear dural
Early diagnosis is crucial to prevent end-organ damage found. thickening, and local dural thickening contiguous
and life-threatening complications. - Proptosis in the setting of upper and lower with orbital, nasal, and paranasal disease. In few
respiratory disease is highly suggestive of cases, granulomatous lesions in brain parenchyma
PATHOPHYSIOLOGY Wegener's granulomatosis. are observed. Pituitary gland and infundibulum
The hallmark of this disease is necrotizing Systemic findings: involvement are also reported.
granulomas of small vessels. - Patients may be febrile and appear ill. Diagnostic Procedures/Other
Evidence suggests that Wegener's granulomatosis is - Neurologic: Patients may have mononeuritis The definitive diagnosis of Wegener's granulomatosis
an autoimmune inflammatory process, in which the multiplex. neuropathy, stroke, seizure, cerebritis, is established by performing a tissue biopsy.
cytoplasmic variants of antineutrophilic cytoplasmic or meningitis.
antibodies (cANCAs) are directed at neutrophil - Ears, nose, and throat: Sinusitis and nasal mucosal Pathological Findings
proteinase 3 (PR3). Neutrophils and endothelial cells disease are the mast common findings. Other A classic triad of vasculitis, granuloma, and large areas
are thought to be both targets and promoters of findings include purulent or sanguinous nasal of necrosis (geographic necrosis) admixed with acute
inflammation. discharge, otitis media, hearing loss from auditory and chronic inHammatory cells is diagnostic of
tube dysfunction, deformation or destruction of Wegener's granulomatosis.
EnOLOGY
The etiology of Wegener's granulomatosis remains the nose (saddle nose), subglottic stenosis. DIFFERENTIAL DIAGNOSIS
unknown, although several chromosomes are being -Oral involvement is rare; however, "strawberry Wegener's granulomatosis may often be confused
investigated for possible loci predisposing to this gingival hyperplasia" is classic of this disease. with chronic sinusitis, atypical bacterial pneumonia,
disease. -Skin: palpable purpura, papules, subcutaneous thoracic aspergillosis, and primary or metastatic lung
nodules, ulcerations resembling pyoderma cancer.
COMMONLY ASSOCIATED CONDITIONS gangrenosum, petechiae, vesicles, pustules, Other conditions to be considered include the
Wegener's granulomatosis is a multisystem disease. hemorrhagic bullae, digital necrosis, subungual following:
Classic features are vasculitis, glomerulonephritis, splinter hemorrhages, and genital ulcers - Microscopic polyangiitis
and granulomas of the upper and lower respiratory resembling squamous cell carcinoma have been - Churg--Strauss syndrome
tract. reported. - Goodpasture's syndrome
-The lower extremities are most commonly - Systemic lupus erythematosus
affected. - Sarcoidosis
- Renal: rapidly progressive glomerulonephritis
owing to chronic renal failure
- Pulmonary: pulmonary nodules or infiltrates,
pulmonary hemorrhage leading to hemoptysis
-Arthritis
710
WEGENER'S GIWIULOMATOSIS
Admission Criteria REFERENCES

o Patient with any life-threatening complication
. TREATMENT should be admitted for further rna nagement. 1. Mohammed AJ, Jacobsson LT, Westman KW, et al.
MEDICATION - For a patient presenting with proptosis and Incidence and survival rates in Wegener's
FirstUne declining vision, an ocu loplastics COI\Sult along granulomatosis, microscopic polyangiitis.
o Untreated Wegener's granulomatosis is fatal. with ENT consult should be obtained Immediately Churg-Strauss syndrome and polyarteritis nodosa.
for admission. Urgent surgicaI decompression may Rheumatology (OxfotrJ) 2009;48(12):1560-1 565.
o Often, the initial therapy for patients is prednisone
(Initiated at 1 mg/kg dally). lhls dose Is maintained be necessary in case of progressive proptosis 2. Cotdl MF, Hoffman GS, Yerg DE, et al. The
for 1-2 months and then tapered. causing optic netVe damage. epidemiology of Wegener's granulomatosis.
o Cydophosphamide is initiated at 2 mg/kg daily and Estimates of the five-year period prevalence, annual
martalily, and geographic disease distribution from
continued for at least 6-12 m~ Patients can ONGOING CARE population-baSI!d data sources. Arthritis Rheum
then be switdled to azathioprine (2 mglkg/day).
1996;39(t ):87-92.
Approximately 90% of patients improve with this FOLLOW-UP RECOMMENDAnONS
treatment and 75% rem it. o Patients have to be monitored very dosely in the 3. Cocco G, Gasparyan AY. Myocardial Ischemia In
initial stages of Wegener's granulomalosis until the Wegener's granulomatosis: Coronary
o 50% of the patients who remit may relapse.
patient is in remission. atherosclerosis versus vasculitis. Open Ca!diavasc
o Oral daily tydophosphamide causes serious toxidty Med J 201 0;4:57-62.
induding c.ytopenia, infection, and hemorrhagic - CIDSI! monitoring of blood work and urinalysis is
cystitis. Long-term use af c:ydophosphamlde In necessary to detect complications of
patients with Wegener"s granulomatosis immunosuppressive therapy.
significantly increases the risk of cancers, especially Patient Monitoring
. CODES
bladder cancer and lymphoma. CBC count should be performed wee ldy for the flrst
o Monthly intravenous cyclophosphamide is less toxic 1-2 months in patients on oral cyclophosphamide. ICD9
but is also reported to be less effective. o 370.00 Corneal ulcer, unspedfled
o Urinalysis, serum creali nine. urine protein and
376 .DO Acute inflammation of orbit, unspecified
SfiCOIJd Une aeatinine ratios, and erythrocyte sedimentation
rates should be moniiDred monthly for the first 446.4 Wegener's granulomatosis
o Weekly methotrexate is an effective alternative for
patients with non-life-threatening Wegener's several months.
granulomatosis. This regimen Is reported to be cANCA titers are screened every H months. In
CLINICAL PEARLS
I
benefiCial in maintaining remission. case of clinical relapse. cAN CA is chet:ked more
o Trimethoprim-su lfamethDXilzole is considered by frequently. Wegener's granulomatosis is marked by necrotizing
some to cause reduction in the relapse rate, DIET granulomas of small vessels.
especially when the disease Is limited to the upper Patients should be advised of salt and water retention Systemic flndlngs lndude sinusitis, progressive
respiratory tract. Furthermore. it is considered when on glucocorticoids. glomerulonephritis, hearing loss. saddle nose
benefiCiaI in preventing pneumonia secondary to deformity, pulmonary nodules, skin rash, neurologic
Pneumocystis catin/1. PATlENT EDUCATlON slg ns. and constitutional symptoms such as fever
o Azathioprine has also been used as an alternative Patients on oral cyclophosphamide should drink and rna laise.
immunosuppressant ample fluids and attempt to void every 4 hours to
Ophthalmic features are characterized by
Plasmapheresis has been reported to be beneficiaI in maintain high urine output and reduce the risk of
o lnflammatron and can Involve any part of the
cases of pulmonary hemorrhage. hemorrhagic cystitis. adnexa or eye.
o Patients should be advised to take oral
o Calcium supplements should be given to any patient Untreated Wegener's granulomatosis is fatal.
cydophosphamide in the morning to avoid high
on steroids to prevent bone loss. Treatment is aimed at immunosuppression.
bladder concentrations In the mlddle of the night
o Gastrointestinal prophylaxis should also be
when fluid intake is minimal.
considered in patients on steroids.
o Patients should be advised to report to their doctors
ADDITIONAL TREATMENT for any signs of cold, sl nusltls, fever, or hematu~a.
General Mellsu~s Women of child-bearing age should be advised to
Ea r1y diagnosis and treatment are crucial to decreasing not start a pregnancy in the presence of active
morbidity and martalily in patients with Wegener's disease.
granulomatosis.
PROGNOSIS
Issues for Referral With advanced treatments and earlier diagnosis,
Patients with this disease should be referred to Wegener's granulomatosis patients have improved
otolaryngologists, pul monologists, nephrologlsts, and prognosis.
dermatologists.
COMPLICAnONS
IN-PAnENT CONSIDERATIONS o Chronic renal insufficiency is reported in
Initial Stabilization approximately 35% patients.
o Patients with Wegener's granulomatosis may Renal failure can lead to dialysis or kidney
present with acute respiratory failure. pericarditis, transplant.
myocardial Infarction.. or acute renal failure. Permanent morbidity from disease or Its treatment Is
o A patient with subglottic stenosis should receive a reported in more than 80% of patients.
tracheotomy. Nasal deformity occurs in approximately half the
o For a patient presenting with proptosis or declining patients with Wegener's granulomatosis.
vision, orbItaI and sin us Imaging should be done o Subglottic stenosis occurs in 35% of patients.
immediately.
711
WEill-MARCHESANI
Brandon B. Johnson

Klinefelter syndrome
Mandibulofacial dysostosis
Alport syndrome
DESCRIPTION HISTORY
A family history of Weill-Marchesani syndrome or Trauma
A rare connective tissue disorder associated with
short stature, brachydactyly (short digits), joint manifestations of the syndrome Buphthalmos
stiffness. and eye anomalies. Aniridia
PHYSICAL EXAM Familial ectopia lentis
-Intraocular abnormalities include Microspherophakia and brachydactyly must be
microspherophakia, ectopia lentis, glaucoma, and present (4)[C]. Persistent fetal vasculature
lenticular myopia -Other features suggesting Weill-Marchesani Coloboma
EPIDEMIOLOGY syndrome include joint restriction and short Syphilis
stature. Xanthine oxidase deficiency
Prevalence
Not well documented - Cardiac anomalies can be associated with this Molybdenum cofactor deficiency
-Listed as a "rare" disease by the Office of Rare condition such as patent ductus arteriosus, mitral Hyperlysinemia
Diseases (ORD) of the National Institutes of Health and aortic valve stenosis, prolonged QTc, and Methylenetetrahydrofolate reductase deficiency
(occurs in<200,000 people in the US) mitral valve prolapse.
RISK FACTORS DIAGNOSTIC TESTS & INTERPRETATION

Lab . TREATMENT
Family history
Initial lab tests MEDICATION
Geneffa Molecular genetic testing is available for ADAMTSIO.
Autosomal dominant and recessive inheritance have Medical treatment of pupillary block glaucoma is
been described. Follow-Up & Special Considerations difficult due to the unpredictable effects of miotic and
- Fibrillin-1 mutations on chromosome 15ql1 have Consider consultation with medical geneticist. mydriatic agents.
been reported with autosomal dominant Imaging ALERT
transmission (1 )[CJ. Initial approach Use of miotic agents can induce pupillary block
-ADAMTSIO mutations on chromosome 19p are Cardiac echocardiogram and EKG glaucoma in patients with microspherophakia and
present in families with autosomal recessive Consider plain films of digits/joints intact lens (3)[C]
inheritance (l)[C]. Follow-up & special considerations There are reports of angle closure with the use of
GENERAL PREVENTION Consider cardiology consult especially if echo/EKG is mydriatics such as cyclopentolate (S)[C]
Genetic counseling to inform family planning abnormal. Intraocular pressure can be controlled using
PATHOPHYSIOLOGY Pathological Findings topical beta-blockers. alpha-2 agonists, carbonic
Mesodermal dysgenesis causes extremely long and Zonules are long and loose due to mesodermal anhydrase inhibitors, and prostaglandins.
loose zonules, which give rise to lens-related dysgenesis often leading to dehiscence. - Lowering of intraocular pressure in the pediatric
complications (3)[C] including the following: DIFFERENTIAL DIAGNOSIS population is first achieved through the use of
- Lenticular myopia from a globular lens topical beta-blockers such as timolol. If
OTHER
- Pupillary block as the lens moves forward and monotherapy is insufficient, these medications
Marfan syndrome
contacts the iris can be combined with carbonic anhydrase
- Secondary iris bombe and anterior chamber Homocystinuria
Sulfite oxidase deficiency inhibitors such as dorzolamide. Alpha-2
shallowing lead to angle-closure glaucoma. agonists such as brimonidine are
- Ectopia lentis from zonular dehiscence can lead to Hyperlysinemia
contraindicated in children younger than 2 years
luxation into anterior chamber. Simple dominant ectopia lentis
due to serious side effects (i.e., lethargy,
Ectopia lentis et pupillae
ETIOLOGY sleepiness). Prostaglandins such as latanoprost
Extracellular matrix proteins important in the Glaucoma-lens
are less effective in children.
development of the lens. skin, and heart are ectopia-microspherophakia-stiffness-shortness
dysfunctional. (GEMSS) syndrome
712
WEill-MARCHESANI
SURGERY/OTHER PROCEDURES PROGNOSIS ADDITIONAL READING

Ea~y Identification and surgical removal of 90% of Weill-Marchesani lenses will eventually
dislocated lens are importaiTI; however, surgical dislocate (1 )[C). Lensectomy is recommend for o Willi M, K.ut L. Collier E. Pupillary-block glaucoma in
complications including vitreous loss have been secondary glaucoma. subluxation, and si!VI!fe the Marchesani syndrome. Arrh Ophthalmol
described (3)[C). Pars plana lensectorny and lerTticular myopia. 1973;90:504-508.
vltrectorny may minimize mmpllcatlons. - 80% will suffer pupillary blodt glaucoma (1 )[C[.
Prophylactic peripheral iridectomy at an earty age Prophylactic peripheral iridotomy is recommended
may be required to protect against pupillary block ID reduce this risk. . CODES
glaucoma (3)[C) COMPLICATIONS
IN-PATIENT CONSIDERATIONS Surgical complications indude difliculty performing ICD9
lensectorny, intraocular lens implantation, and o 743.36 CongenItaI anomalies of lens shape
lnlthl Stabilization 743.37 Congenital ectopic lens
Acute angle-closure glaucoma should never be vitreous loss (6)[C].
treated with miotic; due to their loosening of Com pi ications of angle closure indude nerve 759.89 Other specified congenital anomalies
zonular support. damage. lass of visual field. CRAO, corneal
- Preoperative inte!Ventions should be aimed at decompensation.
relieving pupilla!)' block and lowering intraocular CLINICAL PEARLS
pressure while definitivl! surgical management is Thorough family history and physical exam are
planned. REFERENCES
important in the diagnosis of Weill-Marchesani
-Topical timolol is a first-line intraotular 1. Faivre L. Gorlin RJ. Wirtz MK. etal.ln frame syndrome.
pressure-lowering medication in children. fibri IIin-1 gene deletion in autosomal daminant o Both miotic and mydriatic agents can predpitate
Consider adding carbonic anhydrase inhibitors as Weill-Marchesani syndrome. J Med Genet pupillary block angledosure glaucoma in
well as hyperosmotks If lntraowlar pressure 2003;40:34-36. Wei 11-Mar(hesani syndrome.
control is insuflidem. 2. Dagoneau N, Benoist-Lasselin C. Huber C. et al. o Angle-dosure glaucoma secondal)' to pupilla!)'
-Laying the patient supine and using ocular
ADAMTS10 mutations in autosomal recessive block usually requires lensedorny.
massage over a closed Iid can facilitate posterior
Weill-Marchesani syndrome. Am JHum Genet Prophylactic treatment includes peripheral iridotomy
displacement of lens. 2004;75:801-306. (prophylactic lensectomy has not been studied).
Admission Criteria 3. Ritch R, Wand M. Treatment of the Weill-
Patients with acute angle-closure glaucoma secondary Marchesani syndrome. Ann Ophfha/mo/ 1981; 13:
to ectopia lentis should be adm itt:ed for surgical 66)-667.
managemeiTI of Iuxated lens. 4. Marchesani 0. Brachydaktylie und angeborene
Kugel Iinse als Systemerkrankung. Klin Monatsbl
Augenhellf< 1939; 103:392.
I
ONGOING CARE 5. Wright K. Chrousos G. Weill-Marchesani syndrome
FOLLOW-UP RECOMMENDATIONS with bilateral angle-dosure glaucoma. J Pedwtr
o Patients with an intact lens should be dosely Ophfhalmol Strabismus 1965;22:129-132.
monitored by an ophthalmologist for lens 6. Taylor J. Weill-Marchesani syndrome complicated
dlslocatloo and glaucoma. by secondary glaucoma-case management with
o If patieiTI undergoes surgery for luxated lens, follow surgical lens extraction. Aust N ZJ Ophthalmol
postoperatively as needed. 1996;24(3):275-278.
PATIENT EDUCATION
Patients with intact lens should be counseled
regarding their risk of chronic and acute
angledosure glaucoma.
Acute angle closure warning signs
-Eye pain
-Headache
- Con]uncdvalln]ectlon
- Blurred vision
-Nausea
713
WILSON'S DISEASE
Suzanne K. Jadico
~ BASICS Once cirrhosis occurs, free copper leaks into the

bloodstream.
-Accumulates in and damages other tissues
Lab
Uver enzymes: mildly to moderately elevated, often
DESCRIPTION - Neuropsychiatric, hematologic, renal, and other with aspartate aminotransferase (AST) > alanine
Wilson's disease (WD) is an autosomal recessive organ system disease manifestations aminotransferase (ALT)
defect in cellular copper transport characterized by Incorporation of copper into apoceruloplasmin to Blood ceruloplasmin
dramatic build-up of intracellular hepatic copper form ceruloplasmin is also impaired, accounting for -An extremely low serum ceruloplasmin level
with subsequent hepatic, neurologic, and other the decreased serum ceruloplasmin. (< 5 mgfdl) is strong evidence for the diagnosis.
systemic abnormalities.
Also called: Copper storage disease. ETIOLOGY -A serum ceruloplasmin concentration<20 mgfdl
hepatolenticular degeneration See Genetics section. in a patient who also has Kayser-Fleischer rings is
diagnostic (1 )[B].
EPIDEMIOLOGY
Manifests as liver disease in children, peaking at ~ DIAGNOSIS - Serum ceruloplasmin alone has a low positive
predictive value, only 6% in one study (3)
ages 10-13 years HISTORY o Low serum ceruloplasmin levels also found in
Manifests as neuropsychiatric illness in young adults Clumsiness asymptomatic WD heterozygotes. marked renal
aged 19-20 years Difficulty speaking or enteric protein loss, end-stage liver disease of
Males and females affected equally in all ethnic Involuntary shaking any cause, and other rare disease of copper
groups. deficiency
Drooling
lnddence Personality changes - Normal ceruloplasmin does not rule out WD
The gene frequency is 0.56% with a carrier frequency o Can be elevated in the presence of acute liver
Depression
of 1 in 90 (see Genetics section). inflammation. pregnancy, and estrogen
Easy bruising supplementation
Prevalence Fatigue Basal 24-h urinary excretion of copper
Approximately 1 case in 30,000 in most populations Nausea - 24-h urinary copper excretion of > 100 t9 is
RISK FACTORS Joint pain typical in symptomatic patients (normal
Genetia Impotence <40 ~-~oQfday).
Inherited as an autosomal recessive trait Night blindness - Penicillamine challenge useful in symptomatic
Genetic defect localized to chromosome 13, which Family history of WD children if urinary copper excretion is
codes for the ATP7B protein (1 ). <100 ~-~oQI24 h
PHYSICAL EXAM
- Can be affected by mutations at many different -Values of > 1,600 ttg copperf24 h following the
Signs of acute or chronic liver failure and portal
sites hypertension administration of 500 mg of o-penicillamine are
- Mediates copper transport by sequestering copper - Yellowing of the skin and eyes Oaundice) found in WD (4)[B].
into vesicles, which undergo exocytosis across the - Hepatomegaly Serum copper concentration
plasma membrane. - Swelling of arms and legs - Nonceruloplasmin-bound copper levels are
Normal variations in the PRNP gene modify the Neurologic symptoms greater than 25 ~-~ogfdl in the majority of untreated
course of WD. -Tremor patients with WD (normal< 15 ~-~ogfdl).
- PRNP gene codes for prion protein, which is -Ataxia -Values may be influenced by a variety of
involved in copper transport. - Parkinsonism conditions; therefore, the sensitivity, specificity,
- Normal variation in the PRNP gene may delay the and positive predictive value have not been
-Dystonia
age of onset of WD or affect clinical - Cerebellar and pyramidal signs well-established.
manifestations. - Impairment of vertical eye movements. in Slit lamp exam
GENERAL PREVENTION particular vertical pursuits, more often than - Kayser-fleischer rings. dependent upon type of
Genetic counseling vertical optokinetic nystagmus and vertical presentation (1)
saccades (2) o Present in 50~0% of patients who present
PATHOPHYSIOLOGY with isolated hepatic involvement
Kayser-fleischer ring
Impaired transport of copper from the liver into bile o Present in 98% of patients who present with
- Brownish or gray-green rings that represent fine
leads to excess copper accumulation in the liver. neurologic involvement
pigmented granular deposits of copper in
Excess copper may act as a prooxidant. Descemet's membrane in the cornea close to the o Absence of Kayser-Fleischer rings does not
- Promotes free radical formation limbus exclude the diagnosis.
- Progressive hepatic damage manifests as o Not absolutely specific for WD; reported in other
- Formation begins first at superior pole, then the
asymptomatic liver function test (LFT) abnormality, chronic cholestatic diseases.
inferior pole. and ultimately circumferentially
chronic hepatitis, portal hypertension, acute liver - Sunflower cataracts, representing copper deposits
Renal dysfunction
failure, and eventual cirrhosis. in the lens
- Kidney stones
- Fanconi syndrome (proximal tubular dysfunction) - Rarely, optic neuritis or pallor of the optic disc
causes abnormal number of am ina acids excreted
in the urine (aminoaciduria).
714
WILSON'S DISEASE
Imaging SeCDIId Une REFERENCES

Brain CT Zinc acetate (1SG-300 mg PO qday) prevents your
- Slit-like, low-attenuation foci involving the basal body from absorbing copper from the food. 1. EI-Youssef M. Wilson disease. Ma~ Clin Proc
gangIia, particularly the putamen - Approved for maintenance after initial chelation 2003;78(9):1126-1136.
- Larger reg ions of low attenuation in the basal therapy 2. lngster-Moati I, Bui Quae E. Pless M, et al. Ocular
ganglia, thalamus, or dentate nucleus - Drug of choice In presymptomatlc. pregnant. and motility and Wilson's disease: A study on l4
-Widening of the frontal horns of the lateral pediatric populations patients. JNeurol Neurosurg PsydJ/Jtty
ventricles and diffuse cerebraI and cerebellar 2007;78:1199--1201.
atrophy 3. Cauza E. Maier-Dobersberger T. Polii C, et al.
Brain MRI GenerafAfeasures Saeenlng for 'Mison's disease In patients with IIIIer
- More sensitive than cr in detecting early lesions See Diet section diseases by serum ceruloplasmin. 1 Hepatol
-Focal abnormalities in the white matter, pons, and Issues for Referral 1997;27:358.
deep cerebellar nuclei are typlca lly bilateral with Consultation with a hepataloglst recommended 4. Roberts EA. Sd1ilsky ML. Diagnosis and treatment
low signal intensity on T1-weighted images, SURGERY/OTHER PROCEDURES of Wilson disease: An update. Hepato/ogy
representing cell loss and gIiosis. Liver transplantation 2008;47:2089.
-Decreased signal Intensity In the putamen and 5. Durand F, Bemuau J, Giostra E, et al. Wilson's
- Primarily reserved for ueatment of patients with
other parts of the basal ganglia may represent fulminant liver failure or end-stage livl!r cirrhosis disease with severe hepatic Insufficiency: Benefldal
either mpper or iron ferritin deposition. despite chelation ther.~py effects of early administration of D-penkillamine.
Diagnostic l'roCfldures/Other Gut 2001;48:849-852.
Livl!r biopsy 6. Dahlman T, Hartvlg P, Lofhalm M, et al. Long-term
- Essential for diagnasis in absence of ONGOING CARE treatment of Wilson's disease with triethylene
Kayser-Fieisd1er rings or neurologic abnormalities tellllmine dihydrochloride (trientine). QJM
FOLLOW-UP RECOMMENDATIONS 1995;88:6~16.
- Quantitative mpper determlnatlon (1)
o L.eve Is of more 1han 250 I'Qfg of dry weight htlent Monitoring
found even in asymptomatic patients. Weekly for the flrst 4-6 weeks following Initiation of
o Normal hepatic mpper mncentratlon chelation therapy ADDITIONAL READING
(15-55 l'g/g) excludes the diagnosis. - Physicaii!Xllmination, 24-h urinary copper
excretion assay, CBC, urinalysis, serum-free copper Gow PJ, Smallwood RA, Angus PW, et al. Diagnosis
Genetic testing amently limitl!d to screening of of Wilson's disease: An experience aver three
family members for an Identified mutation detected measurement. and renal and LFTs
Bimonthly evaluations through the first year, decades. Gur 2000;40:415-41 9.
in the index patient Medici V. Rassaro L, Stumiolo GC. Wilson
fallowed by yearly examinations thereafter
Pathological Findings Yearly slit lamp examination to document fading of disease-A practical approach to diagnosis,
Liller biopsy Kayser-fleischer rings treatment and follow-up. Dig Uver Dis 2007;39(7):
I
- Ranges from fatty inflltration to cirrhosis 601~09.
- May appear similar to chronic active hepatitis DIET
-Histochemical staining of liver spedmens far Limit dietary capper intake
capper Is of little dlagnosde vaIue. - Avoid liver, shellfish (especially lobster). . CODES
mushrooms, nuts, legumes. and chocolate
DIFFERENTlAL DIAGNOSIS - Avoid copper pots, pans, or conta lners
Hepatitis ICD9
- Replace well water with purified water if the 275.1 Disorders of capper metabolism
- Acute or chron lc hepatitis of any etiology, capper content is greater than 0.2 ppm.
commonly mimicking autoimmune hepatitis 371.14 Kayser-fleischer ring
Avoid alcohol and hepatotoxic drug therapy
Neuropsy<hiatric disorders
PATIENT EDUCATION
Wilson's Disease Association CLINICAL PEARLS
. TREATMENT - http://Www.wllsonsdlsease_orglhome.htmI
WD is an autosomal recessive defect in cellular
MEDICATION PROGNOSIS mpper tr.~nsport characterized by hepatic and
First Line Fatal if not treated in a timely manner neurologk abnorma lltles.
Chelating agents: Remove excess capper from If treated early, symptomatic recovery Is often Diagnosis is made with LFTs, blood ceruloplasmin
body. complete with a normal life expectancy. levels, 24-h urine capper levels. slit lamp I!Xllm
ResiduaI dysarthria and miId dystonia are relatively identification of Kayser-fleischer rings, and liver
- Penldllamlne (Cuprlmlne, Depen) (S)[B] biopsy.
common in neurological WD.
o Adult: Initial 1.5--2 g PO qday; Maintenanee: Lifelong chelation therapy is necessary. Treatment necessitates lifelong capper dlelating
750 mg to 1 glday PO q.i.d. therapy.
o Pediatric 25 mgll<g PO qday COMPLICATIONS
o Extensive side effects induding skin problems, Chronic IIIIer failure and cirrhosis can lead to
bone rna rrow suppression, worsening of bleeding from varices. hepatic encephalopathy,
neurological .symptoms. and birth defects. hepatorenal.syndrome, and coagulation
o Must be administered with py~doxlne 25 mg PO abnormalities.
qday FuIminant liver failure may OCOJ ~ especially due to
- Trientine (Syprine) 2so-soo mg PO t i.d. (6)[8I medication noncompliance.
o If unable to tolerate penicillamine
o Risk of bone marrow suppression and
worsening neurologic symptoms
o Should be administered with zinc
715
WYBORN-MASON SYNDROME
Lawrence Y. Ho
~ BASICS Dermatologic symptoms

-Birthmark
Lab
Other symptoms Initial lab tests
DESCRIPTION -Epistaxis Complete ophthalmologic examination with indirect
Also mown as Bonnet-Dechaume-Bianc syndrome, - Oral bleeding, for example, during dental ophthalmoscopy
congenital retinocephalic vascular malformation extraction Fluorescein angiography shows rapid arteriovenous
syndrome, or racemose hemangiomatosis transit without leakage
Congenital, neurocutaneous condition usually PHYSICAL EXAM
Ophthalmologic findings Optical coherence tomography (1)[C]
characterized by unilateral CNS, ocular, and skin
arteriovenous malformations (AVMs) - Decreased visual acuity Follow-Up Br Special Considerations
- May have afferent papillary defect Follow for development of ocular complications
EPIDEMIOLOGY - Elevated intraocular pressure (lOP)
Imaging
lnddence -Dilated conjunctival vessels
Initial approadl
Rare -Arteriovenous communications are divided into
MRI
three groups:
Prevalence Magnetic Resonance Angiography (M RA)
o Group 1: Interposition of an abnormal capillary
Unmown Follow-up Br special considerations
plexus between major vessels
RISK FACTORS o Group 2: Direct arteriovenous communication Follow for development of neurologic complications
None without interposition of capillaries Diagnostic Procedures/Other
o Group 3: More extensive arteriovenous shunts Clinical diagnosis
Geneffa
Sporadic, no known locus often associated with vision loss
-Vessel sheathing Pathological Findings
PATHOPHYSIOLOGY -Absent spontaneous venous pulsations Retinal histology
AVMs are abnormal vessel communications - Optic atrophy -Retinal vessels were thickened with fibromuscular
between arteries and veins. - Optic nerve edema media and wide. fibrohyaline adventitial coats.
It may involve capillaries, arterioles, venules, - Strabismus - Retinal vessels may occupy entire thickness of
arteries, or veins and are a result of defective -Nystagmus retina touching retinal pigment epithelium.
vascular development. - loss of nerve fibers and ganglion cells
-Proptosis
CNS findings DIFFERENTIAL DIAGNOSIS
~ DIAGNOSIS -Bruit
- Cranial nerve paresis

Hypertension
Retinal neovascularization
HISTORY - Hemiparesis lntraretinal microvascular abnormalities
Can be asymptomatic - Hemianopsia Retinal vessel col laterals
- Intracranial hemorrhage Retinal telangiectasias
Ophthalmologic symptoms
- AVMs of the cerebrum and brainstem
- Impaired vision Sturge-Weber syndrome
-Eye discomfort Dermatologic findings
Von Hippei-Lindau disease
- Double vision - Facial angiomas, nevi, or pigmented lesions
Other findings Rendu--Osler-Weber disease
- Conjunctival injection Familial retinal arteriolar tortuosity
- Decreased visual field AVMs of the maxi II a, pterygoid fossa, or mandible
Congenital unilateral retinal macrovessels
- Involuntary eye movements
CNS symptoms
- Mental status changes
-Headache
-Emesis
-Seizures
- Weamess
716
WYBURN-MASON SYNDROME
3. Achrol AS, Guzman R, Varga M, et al. Pathogenesis

. TREATMENT ONGOING CARE and rad loblology of brain arte~ovenous
maHorTnations: Implications for risk stratification in
MEDICATION FOLLOW-UP RECOMMENDATIONS natural his!Dry and posttreatment course.
Topical medications for Increased lOP: Continued observation by: Neurosurg Focus 2009;26(5):E9.
- Belil-blockers - OphthaImologlst
- Carbonit an hydrase inhibitors - Neurologistlneurosurgeon
- Prostaglandin analogues - Dermatologist ADDITIONAL READING
- Alpha-2 reCI!ptor agonists DIET Bonnet P, Dediaume J, Blanc E. L'aneurysme
- Miotic agents Regular drsoide de Ia ll!tine (a neurysme vasemeaux). J Med
Systemit medications for increased lOP Lyon 1937;18:165-178.
- Carbonit an hydrase inhibitors PATIENT EDUCATION
National Institutes of Health Office of Rare Diseases Schmidt D, Pathe M, Schumad!er M. The congenital
- Hyperosmolic agents unilateral retinocepha lie vasrular malformation
Research
Treatment of amblyopia with patching +/- syndrome (Bonnet-Dethaum~Bianc syndrome or
- http:/lrarediseases.info.nih.govf
cycloplegia Wybum-Mason syndrome): Review of the literature.
Anticonvulsant medications for seizures Natlonal Organization for Rare Disorders (NORD)
- http://www.rarediseases.org/ Surv O{irtha/mo/2008;53(3):227-249.
ADDITIONAL TREATMENT Wybum-Mason R. Arte~ovenous aneurysm of
PROGNOSIS midbrain and retina, fadal naevi and mental
Genwal Mesutes Depends on location and severity of lesions
Spontaneous involution may occur. changes. Brain 1943;66:163-203.
Monitor for ocular or neurologic compi ications. COMPLICATIONS
Vision loss
lssws for Refwral . CODES
Vein occlusions
Neurology referral if retinal AVMs are noted
Neovascularglaucoma secondarytovein occlusion
Dermatology referral for skin lesions ICD9
Secondary glaucoma due to increased episcleraI
SURGERY/OTHER PROCEDURES venous pressure 369.9 Unspedfted vlsuaI loss
Ophthalmic surgery Vitreous hemorrhage 743.58 Vascular anomalies, Cllngenital
- Scatter panretlnaI photocoagulation for lntracranial hemormagl!lstroke 747.81 Congenital anomalies of cerebrovascular
neovascular complications following vein Seizures system
oalusions (2)[C)
- Glaucoma fittr.rtion or cydodestructive procedures Uncontrolled oral bleeding
for cases faIllng medical management (2)[C] CLINICAL PEARLS
- Vrtredorny for nonclearing vitreous hemorThage REFERENCES
I
- Strabismus surgery when indicated Rare. sporadic neurocutaneous syndrome
Neurosurgical Intervention (3)[C] 1. Saleh M, Gaucher D. Sauer A. et al. Spectral optical characte~zed by CN S. DOJia ~ and derTnatologlc
- Endovascular embolization coherence oomography analysis of a retinal AVMs
- Surgical resection arteriovenous malformation (Wybum-Mason Usually occurs unilaterally
- Radiosurgical procedures syndrome). J FrO{irta/mo/2009;32(10):779-780. Referral to neurologist for evaluation once retinal
2. Mansour AM, Wells CG, JampollM, et al. Ocular AVMs are seen
complications of arteriovenous communications of Ufelong monitoring for ocular and neurologic
the ll!tina. Ard! O{irtha/mo/ 1989; 107(2): complications
232-236. Medical and surgical treatments are available for
complications of Wyburn-Mason syndrome.
717
1-UNKED RETINOSCHISIS
Avni Vyas
Lab
The electroretinogram (ERG) shows reduced b-wave
DESCRIPTION HISTORY amplitude in all patients. The a-wave is initially
X-linked retinoschisis is a genetic disorder of the retina X-linked retinoschisis occurs almost exclusively in
normal but may be reduced in older patients. In
that primarily affects males in the 1st decade leading males who typically present in the first decade of life advanced cases, the ERG can be virtually
to decreased vision, foveal schisis, and peripheral with decreased vision, strabismus. and nystagmus. unrecordable.
retinoschisis in both eyes. It may present as early as infancy with nystagmus.
Visual field testing generally demonstrates a relative
EPIDEMIOLOGY PHYSICAL EXAM central scotoma and absolute scotomas
Prevalence Foveal retinoschisis is the most characteristic corresponding to the peripheral schisis cavities.
ophthalmoscopic finding and is present in virtually Imaging
It is an uncommon disease that has been described in all patients. Radiating striae in the internal limiting
multiple countries, with the highest carrier prevalence membrane (ILM) and foveal microcysts are typically Optical coherence tomography (ocn can be
reported in Finland: 14 per 10,000 people (1)]A]. seen. In older patients, pigmentary changes and performed to further assess the foveomacular schisis
RISK FACTORS retina pigment epithelial (RPE) atrophy often evolve changes. Although X-linked retinoschisis has
overtime. traditionally been associated with nerve fiber layer
Genetics schisis, one study indicates that the schisis cavities can
X-linked recessive disorder with full penetrance In approximately 50% of patients, peripheral
affect multiple layers (nerve fiber layer, inner nuclear
retinoschisis is present, often inferotemporally. The
PATHOPHYSIOLOGY layer, outer nuclear layer/outer plexiform layer) and
splitting typically affects the superficial retinal layers.
Gene mutations that encode retinoschisis (RS 1) cause the entire macula (3)[A].
Vascular changes such as sheathing, microvascular
this disease (2).
abnormalities, and retinal neovascularization are DIFFERENTIAL DIAGNOSIS
EnOLOGY sometimes seen. Acquired retinoschisis
A primary defect in the Miiller cell has been Up to 29% of patients have hyperopia and/or Retinitis pigmentosa
proposed as the etiology of this disease process. strabismus. Retinal vasculitis
An abnormality of retinal and choroidal vascular Vitreous hemorrhage and retinal detachment are Goldmann-Favre syndrome: Foveal schisis is also
development has also been proposed to cause the complications of X-linked retinoschisis. Vitreous seen. However, the inheritance pattern is autosomal
retinoschisis cavities. hemorrhage can occur from rupture of poorly recessive. Patients typically have severe nyctalopia
supported retinal blood vessels or less frequently and reduced a- and b-waves on ERG.
from neovascularization.
718
X-UNKED RETINOSCHISIS
3. Yu J, Ni Y, Keane PA. et al. Faveomacular schisis in

. TREATMENT ONGOING CARE Juvenile X-llnked rednosthlsls: An optical coherence
tomography srudy. Am J Ophlita/moJ 201 0;149(6):
MEDICATION FOLLOW-UP RECOMMENDATIONS 973-978.
There Is no cure for thIs disorder. This is a d1ronic, slowly progressive disorder. 4. Garg SJ, Lee HC, Grand MG. Bilater.!I macular
Refractive error, strabismus. and amb~opia should Patients should be followed regularly to monitor for detachments In X-llnked retlnoschlsls. Ardl
be treated appropriately. complications. OfX!thalmol 2006; 124(7):1053-10 55.
Prophylacdc laser photocoaguIation treatment of PATIENT EDUCATION 5. Apush ilcin MA, Fishman GA. Use of dorzolamide for
sch isis cavities has been associated with an All affected padents and their famllles should undergo patients wtth X-llnked retlnoschlsls. Retina
increased incidence of megma!Dgenous retina I genetic counseling. 2006;26:741-745.
detachment and, therefore. is not recommended.
Repair of retinal detachments with vitrertomy and
PROGNOSIS
internal tamponade has shown the best resu Its (4). Vision loss progresses slowiy with retention of . CODES
reasonable vision until the Sth or 6th decade when
Repair with scleral buckling has had variable
outcomes. visual acuity may worsen secondary to macular
atrophy. ICD9
Panrelinal photocoagulation is effective in 361.10 Retinoschisis. unspecified
managing neDVascularizalion. COMPLICATIONS 362.73 V'rtreoretinal dystrophies
Vllreous hemorrhage t)l)lcally dears spontaneously. Up to 20% of patients will develop retinal detachment.
In cases of dense or nonclearing hemorrhages, and up to 40% wt II develop vitreous hemorrhage.
vilrectomy may be considered, and should be CLINICAL PEARLS
performed earlier In the amblyogenlc age groups. REFERENCES X-1 inked retinosch isis is a cause of cystoid macular
Some case reports have suggested a benefrt of edema in otherwise healthy adult males. The OCT
topical dorzolamide in the treatment of foveal 1. George NO, Yates JR, Moore AT. X linked
ll!linoschisis. Br J OfX!tha/mol 1995;79:697-702. shows significant cystoid change, but the fl uoresceln
cystic-appearing lesions with Improvement In visual angiogram is nat impressive.
acuity (S)[A]. 2. Sergeev YV, Caruso RC, MeNzer MR, et al.
Molecular modeling of retinosthisin with functional
ana lysis of pathogenic mutations from human
x-llnla!d ll!llnoschlsls. Hum Mol Genet
201 0; 19(7):1 302-1313.
719
INDEX
A Astrocytic hamartoma of tuberous sclerosis, Cavernous hemangioma

MU. See Acute anterior uveitis (AAU) 194. See also Congenital hypopigmented of orbi~ 130-131
Abducens sixth (VI) nerve palsy, 46-47 retinal lesions of retina, 132-133
Achromatopsia, 48-49 Ataxia-telangiectasia (AD. 92-93 Cavernous sinus syndrome, 134-135
Acne rosacea, 50-51 Atopic keratoconjunctivitis (AKC), 68. See a/so Cavernous sinus thrombosis (CSD. 136-137
Acquired nystagmus, 468-469 Allergic conjunctivitis Cellophane maculopathy. See Epiretinal
Acute anterior uveitis (MU), 52-53 AT syndrome, 92-93 membranes
Acute conjunctivitis, 1 Axenfeld-Rieger syndrome, 94-95 Cellulitis, orbital, 496-4g7
Acute inflammatory demyelinating Central and branch retinal artery occlusion,
B
polyneuropathy (AIDP), 328-329 138-139
Bacterial conjunctivitis, 210-211
Acute multifocal placoid pigment Central corneal ulcers, 140-14 1
Band keratopathy, 96-97
epitheliopathy (AMPPE), 78-79 Central NF. See Neurofibromatosis (NF)
Bartonella henselae, 98
Acute primary angle closure glaucoma, 2, Central retinal vein occlusion (CRVO),
Bartonella neuroretinitis, 98-99
54-55 142-143
Basal cell carcinoma, 298. See also Eyelid
Acute retinal necrosis, 56-57 Central serous chorioretinopathy, 144-1 45
neoplasms
Adie tonic pupil, 58-59 Central serous retinopathy, 144-145
BBE. See Bickerstaff brainstem encephalitis
Adult-onset foveomacular vitelliform dystrophy. Chalazion, 146-147
(BBE)
See Pattern dystrophy Charles Bonnet syndrome (CBS), 332-333
Behc;et's disease, 100-101
Age-related macular degeneration (AM D), Chemical burns, 148-14g
Benign conjunctival lesions, 102-1 03
76-77 Chiasma! disorders, 150-151
Benign hemangioendothelioma. See Periocular
and polypoidal choroidal asculopathy, Child abuse, 152-1 53
capillary hemangioma
6Q-61 Child negle~ 152
Berlin's edema, 182-183
Age-related (senile) etinoschisis, 62-63 Children
Best's vitelliform macular dystrophy, 104-105
Aicardi syndrome, 64-65, 194. See a/so anisocoria in, 82-83
Biber-Haab-Dimmer dystrophy. See Lattice
Congenital hypopigmented retinal lesions hemangioma in, 336-337
corneal dystrophy
AIDP. See Acute inflammatory demyelinating high lOP in, 18
Bickerstaff brainstem encephalitis (BBE),
polyneuropathy (AIDP) iritis-uveitis in, 374-375
328
Albinism, 66-67 in nasolacrimal duct obstruction, 444-445
Birdshot chorioretinopathy, 106-1 07
Allergic conjunctivitis, 68-69 papilledema in, 512-513
Birth trauma to the eye, 108-1 09
a-galactosidase A deficiency, 300. See a/so red eye in, 590-591
Bleb-associated endophthalmitis (BAE), 110
Fabry's disease CHM. See Choroideremia (CHM)
Blebitis, 11 0-111
Alport syndrome, 70-71 Chorioretinal coloboma, 180-181
Blepharitis, 3, 112-113
Amaurosis fugax, 72-73 Chorioretinal scar, 190-191
Blepharochalasis, 242
Amblyopia, 74-75 Choroidal coloboma, 616-617
Blepharospasm, 114-115
AMD. See Age-related macular degeneration Choroidal effusion/detachment, 154-155
Blind baby, 116-117
{AMD) Choroidal folds, 6, 156-15 7
Blindness, World Health Organization
Amniotic fluid embolism, 556 Choroidal hemangioma, 158-1 59
definition of, 116
Amniotocele, 236-237 Choroidal melanoma, 160-161
Blood dyscrasias, 402-403
AMPPE. See Acute multifocal placoid pigment Choroidal neovascularization (CNV),
Boder-Sedgwick syndrome, 92-93
epitheliopathy (AMPPE) 162-163
Bonnet-Dechaume-Bianc syndrome. See
Amyloidosis V. See Lattice corneal dystrophy Choroidal nevus, 164-165
Wyburn-Mason syndrome
Anderson-Fabry disease, 300. See also Choroidal rupture, 166-167
Branch retinal vein occlusion (BRVO),
Fabry's disease Choroidal tumors, 7
118-119
Angioid streaks, 80-81 Choroideremia (CHM), 168-169
Brown syndrome, 120-1 21
Angle closure, 54 Chronic iridocyclitis, 170-171
BRVO. See Branch retinal vein occlusion
Anisocoria in children, 82-83 Chronic progressive external ophthalmoplegia
(BRVO)
Anisometropia, 84-85 (CPEO), 172-173
Bullous keratopathy, 122-123
Anophthalmia, 86-87

Includes Online Color Image Bank

Enviado por

Dados do documento

Título original

Direitos autorais

Formatos disponíveis

Compartilhar este documento

Compartilhar ou incorporar documento

Opções de compartilhamento

Você considera este documento útil?

Este conteúdo é inapropriado?

Direitos autorais:

Formatos disponíveis

Includes Online Color Image Bank

Enviado por

Direitos autorais:

Formatos disponíveis

Includes

Sunir J. Garg, MD, FACS Robert C. SergoH, MD

Ann P. Mun:hison, MD, MPH

.Wolters Kluwer ILippincott Williams & Wilkins

C 2012 by LIPPINCon WILLIAMS & WILKINS, a WOLTERS KLUWER business

Library of Congress CataloginginPublic:atian Data

Fatima K. Ahmad, MD David B. Auerbach, DO Brad Ballard, MD

Stephanie A. Baxter, MD ChrisS. Bergstrom, MD, OD Jeffrey P. Blice, MD

Jacqueline R. Carrasco, MD Christine W. Chung, MD Michael A. DellaVecchia, MD, PhD,

Justis P. Ehlers, MD Robert Fintelmann, MD Sunir J. Garg, MD, FACS

Robert J. Goulet, Ill, MD Colleen Halfpenny, MD DouglasS. Holsclaw, MD

Edsel lng, MO, FRCS Paul B. Johnson, MD Monica R. Khitri, MD

Suzanne K Jadico, MD Hyunjin J. Kim, MD

Kenneth C. Kubis, MD Esther Lee, MD Wayne R. Lo, MD

Bruce J. Markovitz, MD AmmarMiri Parveen K. Nagra, MD

Rachel M. Niknam, MD Sriranjani P. Padmanabhan, MD Jared D. Peterson, MD

Aparna Ramasubramanian, MD Melvin Roat, MD, FACS Jonathan H. Salvin, MD

Herman D. Schubert, MD Sumit P. Shah, MD Bradley T. Smith, MD

Eliza S. Stroh, MS Elyse Trastman-Caruso, MD Rudolph S. Wagner, MD

James H. Whelan, MD, FRCSC Jeremy D. Wolfe, MD, MS Jacky Y. T. Yeung

F much about the topic as anyone in the world? What could be

We extend our thanks to the associate editors and contributing

Contributors vii Photorefractive Surgery Complications (Late) 31

Anisometropia 84 Choroideremia 168

Diabetic Papillopathy 246 Gyrate Atrophy 330

Macular Hole 412 Optic Nerve Hypoplasia 492

Ptos is-Cong en itaI 576 Stevens-Johnson Syndrome 648

Anterior Segment/Cornea Keratoconus (algorithm) 21

Blebitis 110 Devic's Disease/Neuromyelitis Optica 244

Ectropion 266 Conjunctival Lymphoma 202

Esotropia: Infantile 286 Central Serous Chorioretinopathy 144

Toxocariasis 680 Uvea

Mucoid/purulent Preauricular lymph

ACUTE PRIMARY ANGLE CLOSURE GLAUCOMA

Signs and symptoms may include ocular pain, decreased vision,

If laser peripherallridotomy If peripherallridotomy Is If laser peripheral lrldotomy

Tak Yee Tania Tai

BULL'S EYE MACULOPATHY

Age VIsual acuity

1. Cone dystrophy 1. Juvenile neuronal ceroid 1. Hydroxychloroqulne (Piaquenil)

Alok S. Bansal, Joseph I. Maguire

I Cataract: Age related ~

Key History: Key Ophthalmic Exam: Ancllary Tests to consider.

Visual symptoms (metamorphopsia, VIsual acuity and refraction Fluorescein angiogram

Male > Female 1. Postoperative 1. Posterior scleritis 1. Retrobulbar mass 1. Pseudopapilledema

Alok S. Bansal, Joseph I. Maguire

Common symptoms: blurred vision,

Common causes: pterygium, pingueculum,

Bilateral: HBID, CollYllon causes: Presence of

Metastasis (skin Cavernous

COTTON WOOL SPOTS

I lachemlc ~ I Embolic ~ I Immunologic I lnt.ctlous I Neoplastic I I Traumatic I Taxlc I

Location and color of crystals

1. Cystinosis Cnlantile fonn}

Symptoms during 30s

Calcium =while, distal

Scirrhous breast History of orbital

New onset esotropia

ratio and reevaluate

Barry Wasserman, David Lally

Soft Insect Foreign Conjunctiuitis MediCBmentosa fistula Benign Malignant

Idiopathic Canaliculitis Mucocele Blepharitis Atopy Sarcoidosis Thyroid

HIGH lOP IN CHILDREN

IMid I u~ed antlglaucoma