Corneal Dystrophies

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CORNEAL DYSTROPHIES: 

CORNEAL DYSTROPHIES Dr. Anuja Desai 1 st Year Resident Dhiraj Hospital

History: 

History The word dystrophy is derived from the Greek (dys = wrong, difficult; trophe = nourishment) and was introducedinto the medical literature by Wilhelm Erb in 1884, in describing a disease of the musculature. Bucklers, whose name was later attached to Reis–Bucklers corneal dystrophy (RBCD), published the first classification of the corneal dystrophies.

CORNEAL DYSTROPHIES: 

CORNEAL DYSTROPHIES A group of progressive usually bilateral mostly genetically determined non inflammatory opacifying disorders Typically abnormal substance accumulates in cornea Usually autosomal dominant Isolated form the cornea Not associated with systemic illness

PowerPoint Presentation: 

CHARACTERISTIC DYSTROPHY DEGENERATION Definition Abnormal substance accumulates in the cornea. Isolated from the cornea Secondary deterioration or deposition in the cornea. Corneal Location Central Peripheral Laterality Bilateral Often Unilateral Symmetry Symmetric Asymmetric Vascularization None Common Family History Common Uncommon Onset age 1 st or 2 nd decade 4 th decade or later Differentiating between Dystrophy and Degeneration

IC3D Classification: 

IC3D Classification Category 1: A well-defined corneal dystrophy in which the gene has been mapped and identified and specific mutations are known. Category 2: A well-defined corneal dystrophy that has been mapped to 1 or more specific chromosomal loci, but the gene(s) remains to be identified.

IC3D Classification: 

IC3D Classification Category 3: A well-defined corneal dystrophy in which the disorder has not yet been mapped to a chromosomal locus. Category 4: This category is reserved for a suspected new, or previously documented, corneal dystrophy, although the evidence for it, being a distinct entity, is not yet convincing

CLASSIFICATION: 

CLASSIFICATION Epithelial Bowman layer Stromal Endothelial

EPITHELIAL DYSTROPHIES: 

EPITHELIAL DYSTROPHIES

Epithelial Dystrophies: 

Epithelial Dystrophies Epithelial basement membrane dystrophy Meesmann dystrophy Lisch dystrophy

PowerPoint Presentation: 

Cogan microcystic dystrophy Most common of all dystrophies Retroillumination / Scleral Scatter Recurrent corneal erosions in about 10% of cases Dots Fingerprints Cysts Maps Known as Epithelial basement membrane dystrophy

Cogan Microcystic Dystrophy : 

Cogan Microcystic Dystrophy Inheritance-sporadic Onset-2 nd decade Histology- thickening of basement membrane with deposition of fibrillary protein bet basement membrane and bowman's layer Treatment –of recurrent corneal erosions Anterior stromal micro puncture Superficial microkeratectomy ,PTK

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Microcysts Dots Maps Fingerprints Signs of Cogan dystrophy

Meesmann Dystrophy : 

Meesmann Dystrophy Inheritance- AD Onset-first two yrs of life Histology-irregular thickening of epithelial basement membrane and intraepithelial cyst. Treatment- lubrication

Meesmann Dystrophy : 

Clear in retroillumination Grey in direct illumination K ’ thin and sensation reduced Tiny, epithelial cysts, maximal centrally Meesmann Dystrophy

Lisch dystrophy : 

Lisch dystrophy Inheritance- AD or X linked dominant Signs- Gray band with a whorled configuration Retroilluminition showing densely packed microcysts

BOWMAN LAYER DYSTROPHIES: 

BOWMAN LAYER DYSTROPHIES

Bowman Layer Dystrophies: 

Bowman Layer Dystrophies Reis buckler dystrophy Thiel behnke dystrophy Central schnyder crystalline dystrophy

Reis-Bucklers dystrophy (CDB1, GCD TYPE II): 

Reis-Bucklers dystrophy (CDB1, GCD TYPE II) Inheritance- AD with gene locus on 5q31 Histology- replacement of Bowman layer and epithelial BM with fibrous tissue. Onset- 1 st or 2 nd decade

Reis-Bucklers dystrophy (CBD1, GCD TYPE II): 

Reis-Bucklers dystrophy (CBD1, GCD TYPE II) First to second decades with recurrent spontaneous painful corneal erosions Decreased vision (due to scarring) Recurrent photophobia and irritation

Reis-Bucklers dystrophy (CBD1, GCD TYPE II): 

Reis-Bucklers dystrophy (CBD1, GCD TYPE II) Focal grey white subepithelial opacities By the second and third decades, central corneal opacities develop in a fishnet, or ring-like pattern Mainly affect the central and mid peripheral cornea, sparing the peripheral cornea

Reis-Bucklers dystrophy (CBD1, GCD TYPE II): 

Reis-Bucklers dystrophy (CBD1, GCD TYPE II) Diffuse superficial stromal haze evolves with increased central corneal thickness, irregular astigmatism, and decreased corneal sensation Prominent corneal nerves are often present Lesions stain pink with Masson ’ s trichrome Electron Microscopy reveals prescence of rod shaped bodies.

Reis-Bucklers dystrophy (CBD1, GCD TYPE II): 

Reis-Bucklers dystrophy (CBD1, GCD TYPE II)

Reis-Bucklers dystrophy (CBD1, GCD TYPE II): 

Reis-Bucklers dystrophy (CBD1, GCD TYPE II) Treatment- Excimer laser keratectomy Lamellar keratoplasty High incidence of recurrence

Thiel- Behnke Dystrophy: 

Thiel- Behnke Dystrophy An unusual subepithelial dystrophy also called Honeycomb Dystrophy and classified as a variant of Reis-Bucklers ‘ Autosomal Dominant Gene: 10q24 and 5q31(TGFB1) Most common form of Bowman ’ s layer dystrophies

Thiel- Behnke Dystrophy: 

Thiel- Behnke Dystrophy Presents in childhood (First Decade) Symptoms: May present with recurrent painful erosions and decreased vision Signs Often difficult to differentiate Honeycomb from Reis-Bucklers dystrophy, however in the former; the corneal surface is smooth, corneal sensation is normal Typical honeycomb opacity in the corneal subepithelium region develops in the second decade of life

Thiel- Behnke Dystrophy: 

Thiel- Behnke Dystrophy Histology : Shows “ Curly Fibres ” In The Bowman ’ s Layer Occasional vacuolization of basal epithelial layers and focal iron deposition

Thiel- Behnke Dystrophy: 

Thiel- Behnke Dystrophy

Schnyder Central Crystalline Dystrophy : 

Schnyder Central Crystalline Dystrophy Inheritance- AD with gene locus on 1p36 Histology- deposits of phospholipids & cholesterol. Onset- 2 nd decade Symptoms- Visual impairment, glare Signs- Central, oval , subepithelial crystalline opacity. Diffuse corneal haze, prominent corneal arcus . Treatment- Excimer laser keratectomy.

STROMAL DYSTROPHIES: 

STROMAL DYSTROPHIES

Stromal Dystrophies: 

Stromal Dystrophies Lattice dystrophy type 1 Lattice type 2 Lattice type 3 and 3a Granular dystrophy 1 Granular type 2 Macular dystrophy Gelatinous drop like Central cloudy dystrophy of Francois

Lattice corneal dystrophy type 1 (Biber-Haab-Dimmer): 

Lattice corneal dystrophy type 1 ( Biber - Haab -Dimmer) Inheritance- AD with locus at 5q31 Histology- amyloid deposits Onset- end of 1 st decade

Lattice corneal dystrophy type 1 (Biber-Haab-Dimmer): 

Lattice corneal dystrophy type 1 ( Biber - Haab -Dimmer) Signs Anterior stromal glassy refractile dots Coalescence into fine lattice lines ( retroillumination ) D eep and outward spread sparing the periphery Generalized stromal haze. Treatment- penetrating or deep lamellar keratoplasty .

Lattice corneal dystrophy type 1 (Biber-Haab-Dimmer): 

Lattice corneal dystrophy type 1 ( Biber - Haab -Dimmer) Fine, spidery, branching lines within stroma Later general haze may submerge lesions

PowerPoint Presentation: 

Inheritance Autosomal dominant Onset Middle age with progressive facial palsy. Systemic features Bilateral Cranial and peripheral neuropathy. Dysarthria Dry and lax itchy skin ‘ Mask like ’ facial expression Protruding lips and pendulous ears Lattice dystrophy type II (Familial amyloidosis with lattice dystrophy, Meretoja syndrome) Mask-like facies

Lattice corneal dystrophy type II: 

Lattice corneal dystrophy type II Signs- Randomly scattered short fine lattice lines Corneal sensation is impaired. Treatment- keratoplasty

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Inheritance - autosomal dominant Onset - fourth decade Thick, ropey lines and minimal intervening haze May be asymmetrical and initially unilateral Treatment - penetrating keratoplasty if severe Lattice dystrophy type III

Granular Corneal Dystrophy I (Groenouw type I): 

Granular Corneal Dystrophy I ( Groenouw type I) Inheritance- AD gene 5q31 Histology- amorphous hyaline deposits which stain bright red with Masson trichrome. Onset- 1 st decade

Granular Corneal Dystrophy I (Groenouw type I): 

Treatment - penetrating keratoplasty if severe Eventual confluence Initial superficial and central crumb-like opacities Later deeper and peripheral spread but limbus spared Granular Corneal Dystrophy I ( Groenouw type I)

Granular corneal dystrophy II (Avellino, combined granular-lattice dystrophy): 

Granular corneal dystrophy II (Avellino, combined granular-lattice dystrophy) Inheritance- AD gene 5q31 Histology- hyaline and amyloid in the stroma that stains Masson trichrome and Congo red. Onset- 2 nd decade Signs- superficial, fine opacities that resemble rings, discs, stars or snowflakes most dense centrally. Treatment- usually not required.

Granular corneal dystrophy II (Avellino, combined granular-lattice dystrophy): 

Granular corneal dystrophy II (Avellino, combined granular-lattice dystrophy)

Macular Dystrophy (Groenouw type II): 

Macular Dystrophy ( Groenouw type II) Systemic inborn error of keratan sulphate metabolism (only corneal manifestations). Inheritance- AR with gene locus on 16q22. Histology- abnormally close packing of collagen in corneal lamellae Onset- end of 1 st decade

Macular Dystrophy (Groenouw type II): 

Treatment - penetrating keratoplasty Initial dense, poorly delineated opacities Ant stroma centrally Post stroma periphery Later generalized opacification Thinning Macular Dystrophy ( Groenouw type II)

Gelatinous drop like dystrophy (Japanese type amyloid dystrophy): 

Gelatinous drop like dystrophy (Japanese type amyloid dystrophy) Rare disorder Inheritance-AR Histology- subepithelial and ant stromal accumulation of amyloid Onset-2 nd decade with severe photophobia, watering & visual impairment. Signs-grey sub epithelial nodule -gradual confluence( mulberry like appearance) Treatment- repeated superficial keratectomy.

Gelatinous drop like dystrophy (Japanese type amyloid dystrophy): 

Gelatinous drop like dystrophy (Japanese type amyloid dystrophy)

Central cloudy dystrophy of Francois: 

Central cloudy dystrophy of Francois Inheritance is AD Signs-polygonal cloudy grey opacities separated by relatively clear spaces ,in the posterior stroma most prominent centrally creating leather like appearance Treatment not required DD-crocodile shagreen differentiated by posterior location and AR

Central cloudy dystrophy of Francois: 

Central cloudy dystrophy of Francois

ENDOTHELIAL DYSTROPHIES: 

ENDOTHELIAL DYSTROPHIES

Endothelial Dystrophies: 

Endothelial Dystrophies Fuchs Posterior polymorphous Congenital hereditary

Fuchs Endothelial Dystrophy: 

Inheritance – autosomal dominant Onset - old age (4:1 female – male) Eventually bullous keratopathy Later central stromal oedema Gradual increase in cornea guttata with peripheral spread Progression Fuchs Endothelial Dystrophy

Fuchs Endothelial Dystrophy: 

Fuchs Endothelial Dystrophy Stage-I(corneal guttata )- Irregular warts or excrescences of Descmets membrane secreted by abnormal endothelial cell Specular reflection showing tiny dark spots caused by disruption of regular endothelial mosaic More advanced cases beaten metal app.

Fuchs Endothelial Dystrophy: 

Fuchs Endothelial Dystrophy STAGE II - Endothelial decompensation resulting in stromal oedema -Epithelial oedema STAGE III- - Persistent epithelial oedema resluting in formation of microcyst and bullae(bullous keratopathy)

Fuchs Endothelial Dystrophy: 

Fuchs Endothelial Dystrophy Topical – Nacl 5% drops BCL-provide comfort by protecting exposed nerve endings and flattening the bullae PK Conjunctival flap and amniotic membrane transplant Cataract surgery , lens implantation and keratoplasty (triple procedure) may be considered in eyes with corneal epithelial oedema.

Fuchs Endothelial Dystrophy: 

Fuchs Endothelial Dystrophy Recent Advances- Use of human cultured endothelial cells (HCECs) to restore function of the corneal endothelium. In rabbits- dec corneal oedema

PowerPoint Presentation: 

Inheritance - usually autosomal dominant Onset - difficult to determine because asymptomatic Subtle, vesicular, geographic, or band-like lesions Frequently asymmetrical Treatment - not required Posterior polymorphous dystrophy

Posterior Polymorphous Dystrophy: 

Posterior Polymorphous Dystrophy ASSOCIATIONS: iris membranes,peripheral anterior synechiae,ectropion uveae,corectopia,polycoria . Also ass. With Alports syndrome

Congenital hereditary endothelial dystrophy: 

Congenital hereditary endothelial dystrophy Rare in which there is focal or generalized absence of corneal endothelium To main forms CHED1 and CHED2 Inheritance- -CHED1-AD -CHED2-AR Onset is perinatal

Congenital herediatory endothelial dystrophy: 

Congenital herediatory endothelial dystrophy Signs- -bilateral symmetrical diffuse corneal oedema -blue gray ground glass appearance to total opacification Treatment -PK -should not be delayed as amblyopia may occur DD- congenital glaucoma, mucopolysaccharidoses, birth trauma, rubella keratitis and sclerocornea

References: 

References Kanksi Jayne S. Weiss, MD et al, The IC3D Classification of the Corneal Dystrophies, Cornea Volume 27, Suppl. 2, December 2008

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