Corneal dystrophies

Corneal dystrophiesGroup of progressive , usually bilateral ,

mostly genetically determined , non inflammatory opacifying disorders

Classification EpithelialBowman layerStromalEndothelial

Epithelial dystrophies

Cogan epithelial basement membrane dystrophy

Meesman epithelial dystrophy

Lisch epithelial dystrophy

Epithelial dystrophies1. Cogan epithelial basement

membrane dystrophyInheritance

SporadicHistology

Thick basement membraneDeposits of fibrillary proteinAbsence of hemidesmosomes

Epithelial dystrophies1. Cogan epithelial basement

membrane dystrophyOnset Signs

Dot like opacitiesEpithelial microcystSubepithelial map like patternWhorled fingerprint – like lines

Epithelial dystrophies2. Meesmann epithelial dystrophy

Inheritance Histology

Basement membrane thickning Intraepithelial cyst

Symptoms Asymptomatic Ocular irritation

Epithelial dystrophies2. Meesmann epithelial dystrophy

Signs Tiny intraepithelial cysts Reduced sensations Slightly thinned

Treatment

Epithelial dystrophies3. Lisch epithelial dystrophy

Inheritance AD or XLD Gene locus on Xp 22.3 in XLD

Signs Grey band with whorls Densely packed microcysts

Bowman layer dystrophies1. Reis – Bucklers dystrophy ( CDB1, GCD type 3)

Inheritance AD Gene locus 5q31

Histology Replacement with fibrous tissue

Onset 1st or 2nd decade

Bowman layer dystrophies1. Reis – Bucklers dystrophy ( CDB1, GCD type 3)

Signs Grey white , fine ,round and polygonal subepithelial opacitiesIncrease with age Reduced corneal sensations

Treatment Directed at recurrent errosionsExcimer laser keratectomy

Bowman layer dystrophies2. Thiel-Behnke dystrophy(CDB2,honeycomb-shaped corneal dystrophy)

Inheritance HistologyOnset

End of 1st decade Recurrent erosions

Signs Honeycomb subepithelial opacity

Treatment

Bowman layer dystrophies3. Schnyder central crystalline dystrophy

Disorder of corneal lipid metabolismInheritanceHistology Onset

2nd decade , visual imparementSigns

Central ,oval, subepithelial crystalline opacity Diffuse corneal haze Prominent arcus in 3rd decade

Treatment

Stromal dystrophies1. Lattice corneal dystrophy type 1(LCD1, Biber-Haab-Dimmer)

Inheritance – AD, 5q31Histology –

Amyloid stain Green birefringence

Onset End of 1st decade

Stromal dystrophies1. Lattice corneal dystrophy type 1

Signs Anterior stromal dotsFine lattice linesSpread Stromal hazeReduced sensations

Treatment PKP or DALK

Stromal dystrophies2. Lattice corneal dystrophy type 2 (LCD2,Finnish type amyloidosis, Meretoja syndrome)

Inheritance – AD , gene locus 9q34Histology – Amyloid deposits in stromaOnset – 2nd decadeSigns – fine lattice lines impaired corneal sensationsTreatment –keratoplasty

Stromal dystrophies3. Lattice corneal dystrophy type 3

Inheritance – ADOnset – 70 – 90 yearsSigns – Thick rope like bands of amyloid

Stromal dystrophies4. Granular corneal dystrophy type 1 (GCD1 , Groenouw type 1)

Inheritance Onset – 1st decadeSigns

Anterior stromal depositsDeeper and outward spreadImpaired corneal sensations

Treatment

Stromal dystrophies5. Granular corneal dystrophy type 2(GCD2, combined granular-lattice dystrophy)

Inheritance Onset – 2nd decadeSigns

Superficial opacitiesDeeper linear opacities

Endothelial dystrophies1. Fuchs endothelial dystrophy

Bilateral accelerated endothelial cell lossMore common in women

Inheritance – ADOnset – Old age, slow progressiveHistology – Guttata

Endothelial dystrophies1. Fuchs endothelial dystrophy

Signs Corneal guttataBeaten metal appearanceStromal edemaEpithelial edemaMicrocyst and bullae

Endothelial dystrophies1. Fuchs endothelial dystrophy

Treatment Conservative options

0.5% topical sodium chlorideCorneal dehydration

Bandage contact lensesPKP or DLEKOther options

Conjunctival flapAmniotic membrane transplant

Endothelial dystrophies2. Posterior polymorphous dystrophy (PPCD)

Innocuos asymptomatic Inheritance – ADOnset - at birthSigns – vesicular endothelial lesion band like or diffuseTreatment

Endothelial dystrophies3. Congenital hereditary endothelial dystrophy

Focal or generalized absence of corneal endothelium

Two main forms CHED1 and CHED2Inheritance Onset – perinatalSigns

Corneal edema Opacification

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