Childhood Glaucoma

Definitions and Classification

Primary congenital or infantile glaucoma
Evident at birth or within the first few years of life Abnormalities in AC development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation

Secondary infantile glaucoma

Associated with inflammatory, neoplastic, hamartomatous, metabolic, or other congenital abnormalities

Definitions and Classification

Primary juvenile glaucoma
Recognized later in childhood (after 3 years of age) or in early adulthood

Developmental glaucomas
Embraces both primary congenital glaucoma and secondary glaucoma associated with other developmental anomalies, either ocular or systemic

Childhood Glaucomas
I. Primary Glaucoma
A. Congenital open-angle glaucoma B. Juvenile glaucoma C. Primary glaucomas associated with systemic or ocular abnormalities

Childhood Glaucomas
II. Secondary glaucoma
A. B. C. D. E. F. G. H. I. J. Traumatic glaucoma Glaucoma secondary to intraocular neoplasm Uveitic glaucoma Lens-induced glaucoma Aphakic glaucoma after congenital cataract surgery Steroid-induced glaucoma Neovascular glaucoma Secondary angle-closure glaucoma Glaucoma with increased episcleral venous pressure Glaucoma secondary to intraocular infection

Clinical Manifestations
Classic triad:
Epiphora Photophobia Blepharospasm

Clinical Manifestations
Corneal edema
Often the presenting sign in infants < 3 mos Haab s striae: curvilinear breaks in the Descement s membrane

Clinical Manifestations
Corneal enlargement
Occurs w/ gradual stretching of the cornea as a result of IOP Appears in slightly older infants up to about age 23 yrs

Corneal Diameter in Children: Normal and Glaucomatous Eyes

Corneal diameter (horizontal, in mm) Age Term (newborn) One year Two years Older child Normal 9.5-10.5 10-11.5 11-12 12 Suggestive of Glaucoma 11.5 >12-12.5 >12.5 >13

Clinical Manifestations
Under 1 yr of age of age, diameters of 1212.5 mm are suggestive of glaucoma, and a measurement of 13 mm or more at any time in childhood suggests abnormality, as does asymmetry in corneal diameter between eyes in a child.

Diagnostic Examination
Objectives:
1. Confirm or exclude the diagnosis of glaucoma 2. Determine the etiology of glaucoma (if present) 3. Obtain additional medical information needed to plan for an examination under anesthesia

History
Information should be gathered regarding possible signs and symptoms of glaucoma, evidence of systemic abnormality, possible trauma, drug and medication exposure, and pertinent family history.

Equipment
Portable slit lamp Millimeter ruler Tono-Pen &/or Perkins tonometer Koeppe diagnostic gonioscopic lenses

Assessment of Vision
Vision is often poorer in the affected eye in unilateral cases and may be poor in both eyes when glaucoma is bilateral. Ability to fix & follow & the presence or absence of nystagmus in infants Visual acuity in children > 3 yrs

Corneal Examination
Edema
In moderately severe cases, the cornea appears bluish, and allows visualization of the pupil but few iris details.

Haab s striae Corneal diameter

Tonometry and Intraocular Pressure

IOP is best measured using topical anesthesia in a cooperative child. IOP may be falsely in a struggling child and unpredictably altered when systemic sedatives and anesthetics are administered.
Oral chloral hydrate sedation (100 mg/kg for the 1st 10 kg, 50 mg/kg for each additional body weight): minimally alters IOP in children

Tonometry and Intraocular Pressure

IOP in primary congenital glaucoma: 30-40 mmHg, > 20 mmHg under anesthesia Mean IOP
newborn infants: 10-12 mmHg Age 7-8 yrs: 14 mmHg

Anterior Segment Examination

Primary congenital glaucoma
Abnormally deep & relative peripheral iris stromal hypoplasia Iris shows an insertion more anterior than that of the normal angle Translucency of the uveal meshwork is altered Scalloped border of the iris-pigmented epithelium is unusually prominent

Optic Nerve Examination

cup-disc ratio (>0.3)
Stretching of the optic canal and backward bowing of the lamina cribrosa (reversible)

Cup-disc asymmetry

Axial Length
Serial measurement of the axial length to evaluate progression of the disease
Excessive growth in an eye = inadequate IOP control

Refraction and Perimetry

Relative myopia of the affected eye Older children (6-7 yrs) can undergo visual field examination. Younger children: Goldmann visual field testing Teenagers: standard automated perimetry programs

Childhood Glaucomas
I. Primary Glaucoma
A. Congenital open-angle glaucoma B. Juvenile glaucoma C. Primary glaucomas associated with systemic or ocular abnormalities

Primary Glaucoma

CONGENITAL OPEN-ANGLE GLAUCOMA

Primary Congenital Open Angle Glaucoma

Congenital glaucoma or infantile glaucoma Specific inherited developmental defect of the trabecular meshwork & anterior chamber angle in w/c the angle appears to be open in the sense that the iris & corneoscleral trabecular meshwork are separated

Demographics
~50-60% of the congenital glaucomas 1 in 10,000 births 60% diagnosed by the age of 6 mos & 80% w/in the 1st yr of life 65% male Bilateral in 70%

Demographics
Results in blindness in 2-15% of individuals
Amblyopia
Anisometropia Strabismic

Corneal scarring Myopic astigmatism Cataracts Optic nerve damage

Inheritance
Sporadic in most cases Autosomal recessive in 10%

Pathophysiology
Obscure Cellular or membranous abnormality of the trabecular meshwork (Barkan membrane) Developmental arrest of anterior chamber tissue derived from neural crest cells during the late embryonic period

Clinical Manifestations
Epiphora, blepharospasm, photophobia during the 1st months of life
often initially confused w/ conjunctivitis or NLDO

Clinical Manifestations
Signs: Corneal enlargement Enlargement of the globe Corneal clouding Cupping of the optic disc Haab s striae Deep AC of the affected eye as compared to the usual shallow infantile AC

Differential Diagnosis
I. Conditions sharing signs of epiphora & red eye A. Conjunctivitis B. Congenital NLDO C. Corneal epithelial defect/abrasion D. Ocular inflammation (uvietis/trauma)
II. Conditions sharing signs of corneal edema or opacification A. Corneal dystrophy 1. Congenital hereditary endothelial dystrophy ` 2. Posterior polymorphous dystrophy B. Obstetrical trauma w/ Descemet s tears C. Storage disease 1. Mucopolysaccaharidoses 2. Cystinosis D. Congenital anomalies 1. Sclerocornea 2. Peter s anomaly E. Keratitis 1. Maternal rubella keratitis 2. Herpetic 3. Phlectenular F. Idiopathic (Dx of exclusion only)

Differential Diagnosis
III. Conditions sharing signs of corneal enlargement A. Axial myopia B. Megalocornea IV. Conditions sharing signs of optic nerve cupping (real or apparent) A. Physiologic optic nerve cupping B. Optic nerve coloboma C. Optic atrophy D. Optic nerve hypoplasia E. Optic nerve malformation

Treatment
Primary intervention is surgical.
Initial procedure: goniotomy or trabeculectomy Goniotomy
Sufficient corneal clarity Horizontal incision at the midpoint of the superficial layers of the trabecular meshwork

Treatment
Trabeculotomy
A partial thickness flap is fashioned, Schlemm canal is found, & a trabeculotome is inserted into Schlemm canal & then rotated into the AC

Treatment
Medical treatment
Timolol 0.25% eye drops BID Acetazolamide 10-15 mg/kg/day q6-8 hrs

Prognosis
Rate of success is related to the age of the patient at the initial diagnosis & surgery.
At birth, the cure rate is 55% 3rd or 4th month, the long-term success rate is almost 100%

Primary Glaucoma

JUVENILE GLAUCOMA

Juvenile Glaucoma
Age of onset variable (between ages 3 and 20) Severe high pressure glaucoma significant damage to the optic nerve little useful vision early in life No known associated systemic findings High incidence of myopia

Juvenile Glaucoma
No buphthalmos No breaks in the Descemet s membrane Normal appearance of angle structures No evidence of pigment deposition in the angle
number of iris processes some of w/c have an anterior insertion crossing the scleral spur & posterior trabecular meshwork (inconsistent)

Treatment
Surgical
Goniotomy Trabeculectomy

Primary Glaucoma

PRIMARY GLAUCOMA ASSOCIATED WITH OCULAR ABNORMALITIES

Axenfeld-Rieger Syndrome
A group of bilateral congenital anomalies that may include abnormal development of the anterior chamber angle, the iris, and the trabecular meshwork
Autosomal dominant in most cases 50% associated w/ glaucoma

Iris atrophy, corectropia, pseudopolycoria

Axenfeld-Rieger Syndrome
Axenfeld anomaly posterior embryotoxon with multiple adherent peripheral iris strands Rieger anomaly Axenfeld anomaly plus iris hypoplasia & corectopia Rieger syndrome Rieger anomaly plus developmental defects of the teeth or facial bones, redundant periumbilical skin, pituitary abnormalities, or hypospadias

Axenfeld-Rieger Syndrome
Posterior embryotoxon (prominent & anteriorly displaced Schwalbe line) Iridocorneal adhesions to the Schwalbe line Iris atrophy: corectopia, hole formation, ectropion uveae

Peters Anomaly
Central corneal opacity present at birth that may be associated with variable degrees of iridocorneal adhesion extending from the region of the iris collarette to the border of the opacity The lens may be in normal position, w/ or w/o a cataract, or may be adherent to the posterior layers of the cornea.

Peters Anomaly
80% bilateral Usually sporadic 50% associated w/ glaucoma 60% associated with systemic malformations
Heart, GUT system, musculoskeletal system, ear, palate, spine

Aniridia
Bilateral Variable iris hypoplasia that often appears as complete absence of iris
Rudimentary stump to a complete, or nearly compete, but thin iris Limbal stem cell abnormalities, cataract, foveal hypoplasia

Aniridia
Mostly autosomal dominant 1/3 sporadic Mutation of the PAX6 gene on band 13 of short arm of chromosome 11 50-75% develop glaucoma
Rudimentary iris stump rototes anteriorly to progressively cover the trabecular meshwork

Management of Glaucoma in Aniridia

Stage of Aniridia Normal IOP, stable exam, no evidence of progressive angle closure Normal IOP or early rise in IOP, progressive angle closure Glaucoma w/ advanced angle closure Treatment Considerations Frequent observation

Consider prophylactic goniotomy, medical therapy for IOP Medical treatment w/ aqueous suppressants & miotics, trabeculectomy w/ adjuvant antimetabolites (mitomycin C)

Primary Glaucoma

PRIMARY GLAUCOMA ASSOCIATED WITH SYSTEMIC ABNORMALITIES

Sturge-Weber Syndrome
Unilateral condition with ipsilateral facial cutaneous hemangioma, ipsilateral cavernous hemangioma of the choroid, & ipslateral leptomeningeal angioma

Sturge-Weber Syndrome
Glaucoma in 30-70% of children
Similar to congenital anterior chamber anomalies (infants) episcleral venous pressure (after the 1st decade of life)

Sturge-Weber Syndrome
Treatment
Medical therapy (beta-blockers, miotics, CAIs) Surgical
Goniotomy Trabeculectomy w/ mitomycin C

Neurofibromatosis
NF-1 multisystem disorder inherited by autosomal dominant transmission w/ its gene on chromosome 17 (17q11.2) Caf-au-lait spots, optic nerve gliomas, Lisch nodules

Neurofibromatosis
Glaucoma almost always is associated w/ the development of a plexiform neuroma of the upper eyelid, producing a characteristic S curve deformity.

Neurofibromatosis
Glaucoma:
Obstruction of aqueous outflow by neurofibromatous tissue in the angle Developmental angle anomaly w/c may be associated w/ congenital ectropion uveae Secondary angle-closure caused by forward displacement of the peripheral iris associated w/ neurofibromatous thickening of the ciliary body Secondary synechial angle closure caused by contraction of a fibrovascular membrane

Neurofibromatosis
Treatment
Medical (oral CAIs) Trabeculectomy w/ antimetabolites

Thank you.

SECONDARY GLAUCOMA

Secondary Glaucoma
A. B. C. D. E. F. G. H. I. J. Traumatic glaucoma Glaucoma secondary to intraocular neoplasm Uveitic glaucoma Lens-induced glaucoma Aphakic glaucoma after congenital cataract surgery Steroid-induced glaucoma Neovascular glaucoma Secondary angle-closure glaucoma Glaucoma with increased episcleral venous pressure Glaucoma secondary to intraocular infection