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Dystrophies
Bilateral Symmetric inherited condition Has little or no relationship to environmental or systemic factors Tend to be slowly progressive Begin early in life but may not become clinically apparent until later Classification according to : severity, genetic, pattern, histo-pathologic features or anatomical location
Clinical findings:
Age of onset of signs is probably 3rd decade while age of onset of symptoms is either 3rd or 4th decade of life It is often asymptomatic, otherwise painful recurrent erosions, recur over several years with gradual reduction in frequency Slit lamp signs most common and earliest change is a maplike pattern, best seen with sclerotic scatter, retroillumination or broad beam Dots are fine, grey, round or comma shaped opacities seen deep to or bordering on maps Fingerprints are rarest appear as concentric curved lines
Map-finger-dot epithelial dystrophy Fine fibrillary line in a patient with anterior membrane dystrophy
Light Microscopy
Maps: an abnormal basement membrane within the epithelial layer separating it into anterior and posterior lamellae Dots: Pseudocysts containing nuclear and cytoplasmic depris in the midepithelial layer Fingerprints: are projections of basement membrane onto overling epithelium
Management:
5% Nacl ointment/ lubricants Epithelial debridement Patching /BCL
Meesmann Dystrophy
Rare bilateral Autosomal dystrophy Appears early in life Degenerated epithelial cells> producing frequent mitosis> thickened basement membrane , basal epithelial cells. Have higher glucose, filamentary materials peculiar substance, tiny epithelial vesicles are seen most easily with retro-illumination extending out to limbus most numerous in the inter-palpebral area
Thiel- Behnke
Light microscopy
fibrous tissue between epithelium and Bowman;s layer resulting in a saw tooth configuration of epithelium eventually replaces Bowman s layer Masson s trichrome
Lattice Dystrophy
One of the three classic stromal dystrophies most commonly characterised by branching refractile lines as suggested by it s name. Lattice dystrophy type I is the classic type without systemic involvement, while type II is associated with systemic amyloidosis Age of onset of symptoms and signs: usually in the first decade but sometimes the fourth decade or later Usually presents as recurrent erosions or diminished vision, occasionally asymptomatic
An irregularity and scarring occurs as a result of recurrent erosions in early stages the translucent dots may be present without lattice lines, this can lead to difficulty in diagnosis The characteristic glassy appearance of the dots distinguish them from the grey white opacities seen in granular dystrophy, the opacities in granular tend to have irregular margins and some have relatively clear centers The clarity of the intervening stroma distinguishes it from macular dystrophy Recurrent erosions in lattice dystrophy lead to central subepithelial scarring which may be confused with Reis Bucklers , however by this stage the typical branching lattice lines are present
Light microscopy
1. Irregular epithelium 2. Thickened basement membrane 3. Large fusiform eosinophilic deposits in stroma A. stain red with congo red B. manifest green birefringence with a polarising microscope C. display dichroism D. fluoresce with thioflavin T and Ultraviolet light
Associations:
Lattice dystrophy may be associated with systemic amyloidosis. In this case it is called lattice dystrophy type II onset of stromal dystrophy tends to be later, the erosions less frequent, vision less affected than in lattice dystrophy type I without systemic involvement Systemic involvement is characterised by cranial neuropathy, peripheral neuropathy, and skin masses Lattice type II: fewer lattice lines and a greater involvement of peripheral cornea Autosomal Dominant
Granular Dystrophy
One of the three classic stromal dystrophies it is characterized by discrete grey white deposits in the central anterior stroma The intervening stroma is essentially clear and vision is not affected until late stages Age of onset of signs is first decade while symptoms start in third decade or later Most patients are asymptomatic mild photophobia may be present due to scattering of light by the opacities. recurrent erosions are very unusual, vision is usually not affected until the fifth decade
A variant of granular dystrophy, was originally described in a small number of famillies who traced their roots to Avellino, Itally
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from North India
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from North India
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from North India
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from North India
Clinical and genetic profile of Avellino corneal dystrophy in 2 families from North India
Macular Dystrophy
Is the rarest of the three classical stromal dystrophies Uniquely it is inherited in an autosomal recessive manner Characterized by multiple irregular grey white opacities in the superficial central corneal stroma with a diffuse stromal haze in between the lesions Age of onset of signs and symptoms is the first decade
Macular Dystrophy
presentation
Photophobia is a prominent feature, out of proportion to the signs Deterioration in vision occurs early, usually by 20 to 30 years of age Penetrating keratoplasty is required Recurrent erosions may occur but are much less frequent than in lattice dystrophy
Macular dystrophy may be difficult to distinguish from grnular in the early stages however in macular dystrophy: A. there is an early intervening stromal haze B. it involves deep and peripheral stroma 3. it is characterised by thinning of central stroma 4. there is an autosomal recessive history
Light microscopy
Distended vacuolated keratocytes with pyknotic nuclei non-specific epithelial changes with degeneration of the basal epithelial cells and a slightly irregular Bowman s layer Stained for immunoglycans macular dystrophy is characterised by accumulations within and around stromal keratocytes in the subepithelial area Bowman;s layer, Descemet s membrane and even endothelium It stains blue with Alcian blue but also shows positive staining with PAS, colloidal iron and metachromatic dyes
Management
Clinical findings:
a. Central subepithelial crystals (in 50% of patients) b. Central corneal opacification c. Dense corneal arcus lipoides d. Midperipheral corneal opacification Fasting lipid profile is necessary; for possible hyperlipoproteinemia (type II-a, III, or IV) or hyperlipidemia
Primary familial Amyloidosis Uncommon, Autosomal recessive Subepithelial deposits 1st decade, may resemble band keratopathy
Endothelial Dystrophies
Fuch s Dystrophy Posterior polymorphous dystrophy Congenital Hereditary Endothelial Dystrophy
Fuch s Dystrophy
The most commonly recognised endothelial dystrophy chararcterised by corneal guttata, stromal and epithelial oedema Corneal guttata may be recognised in the 4th or 5th decade in asymptomatic patients Age of onset of symptoms is usually after the 6th decade of life Women are affected more frequently and more severely than men It should be noted that up to 70% of patients over the age of 40 years have guttae, however most of these never get classic Fuch s dystrophy
Patients present with decrease in vision which characteristically is reported being worse first thing in morning but gradually improving through the course of the day Later stages patients may complain of pain secondary to ruptured epithelial bullae The dystrophy shows gradual progression over several decades leading eventually to the need for penetrating keratoplasty
Light microscopy
Thickened descemet s membrane Excrescences of descemet s membrane Endothelial cells are larger and more polymorphic than normal In longstanding cases subepithelial fibrosis is apparent In families of affected patients, approximately 40% of blood related relatives over the age of 40 years have confluent corneal guttae But it does not follow a strict Mendelian pattern
Age of onset of signs congenital, signs my not be recognised for many years, onset of symptoms are highly variable but usually in the first 2 decades Patient may present with a decrease in vision due to corneal oedema and irregular pupil due to ectropion uvea or completely asymptomatic Distinguished from Chandler s syndrome, by the fact that it is bilateral and that it is dominantly inherited
Ectatic Disorders
Keratoconus Posterior Keratoconus Keratoglobus Pellucid marginal degeneration
Kertoconus
A non inflammatory stromal thinning disorder leading to a localized conical protrusion of the cornea the thinning is most marked at the apex of the cone Age of onset of signs and symptoms second decade Patients present with progressive reduction in visual acuity, distortion, photophobia or symptoms of glare, examination reveals high irregular, myopic astigmatism and a scissoring reflex on retinoscopy. If keratometry is performed the central mires cannot be superimposed. Most cases are bilateral but often asymmetrical. The condition progresses to the age of 30 and then tends to stabilize.
Munson s sign (deformation of the lower lid on down gaze) Rizzuti s sign a sharply focused beam of light near the nasal limbus produced by lateral illumination of the cornea. The beam is more central in earlier cases but moves peripherally as the cone progresses Early cones are most easily detected with corneal topography and this can assist with the diagnosis before slit lamp signs appear
Light Microscopy:
Irregularity of and breaks in Bowman;s layer Fibrous tissue forms in areas of breaks Folding of anterior stromal lamellae PAS positive granular substance surrounds these lamellae The epithelium is thin with deposition of ferritin (both intra and extra cellular) in basal epithelium Thinning of stroma (due to a decrease in the number of lamellae) In acute hydrops: Stromal oedema Descemet s membrane separates from the stromal and retracts into scrolls
Association
1. Atopic disease (atopic dermatitis, hay fever, asthma and vernal keratoconjunctivitis) 2. Down s syndrome 3. leber s congenital amaurosis 4. Mitral valve prolapse There are also scattered reports of associations with Marfan s syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta Inheritance: not clearly established. A family history is present in approximately 8%
keratoglobus
Very rare, bilateral, non-inflammatory Typically present at birth Usually not heriditary Strongly associated with blue sclera and Ehlers -Danlos syndrome type VI May represent a defect in collagen synthesis Fragmented Bowman s layer, thinned stroma and thin Descemet s membrane Eye-Protection (Rupture globe) Carries poor prognosis for PK
Posterior keratoconus
A rare abnormality characterized by a concavity of the posterior corneal surface in association with a normal anterior corneal curvature. The concavity may be focal, usually inferior, or diffuse. Most cases are in females and are unilateral It is congenital Scarring may be noted in the cornea anterior to the area of concavity. The condition may be observed in assessing a child with suboptimal vision due to associated abnormalities: retinal coloboma, optic nerve hyperplasia or congenital cataract
Light Microscopy
Characteristic conical posterior surface with loss of stromal substance Disruption of normal lamellar arrangement of corneal stroma with variable degrees of fibrosis Absence of Bowma s layer centrally Excrescences of Descemet s membrane Inheritance: sporadic
Above this thinned area is a protrusion of the cornea which protrudes inferiorly giving a beer belly appearance in cross section The central cornea is of normal thickness. Vertical stress lines and hydrops are much less common than in keratoconus. distinguished from keratoconus , protrusion occurs above an area of thinning , thinning is at the apex of cone in keratoconus Terrien s marginal degeneration, avascular and free of lipid deposition. Mooren s ulcer: occurs in a white eye and the thinned area is epithelialised Inheritance is not known