TOPICS

• CORNEAL DYSTROPHIES

• CORNEAL DEGENERATION
 CORNEAL DYSTROPHY
 Corneal dystrophies are a group of inherited, noninflammatory,
progressive, usually bilateral, corneal opacifying disorders.
 Often associated with decreased vision and discomfort.
 Classified in following types:
a) Epithelial dystrophies
b) Bowman layer/anterior stromal dystrophies
c) Stromal dystrophies
d) Descemet membrane and endothelial dystrophies
Epithelial dystrophies

Cogan epithelial dystrophy Meesmann epithelial dystrophy

• Non-progressive abnormality of corneal epithelial

• Map dot fingerprint dystrophy
metabolism.
• Microcystic epithelial dystrophy
• Mutation in the gene encoding for corneal
• Anterior basement membrane dystrophy
epithelial keratins.

• AD
Inheritance • Sporadic and rare familial cases are AD

• Thickened BM • Shows intraepithelial cysts

• Fibrillary protein deposition b/w BM and • Irregular thickening of the epithelial basement
Histology
Bowman layer. membrane.
• Stains with toluidine blue. • Stains with PAS.
 Cogan epithelial dystrophy
• Onset is usually in 2nd decade with recurrent
corneal erosions.
• Dot-like and microcystic epithelial lesions
Clinical Features
• Subepithelial map-like patterns surrounded by a
faint haze
• Whorled fingerprint-like lines.
Meesmann epithelial dystrophy
• Usually, asymptomatic but there may be recurrent
erosions and blurring.
• Intraepithelial cysts of uniform size in the center
of the cornea.
• Intraepithelial cysts extend toward the periphery
 Cogan epithelial dystrophy Meesmann epithelial dystrophy

Treatment • Similar to RCE • Lubrication

Bowman layer/anterior stromal dystrophies
Reis–Bücklers corneal dystrophy Thiel–Behnke corneal dystrophy
• Honeycomb-shaped corneal dystrophy
• CBD1 (Corneal basement dystrophy) • CBD2
• Less severe than Reis–Bücklers.
• AD
• AD
Inheritance The affected gene is TGFB1 (Transforming growth
Gene is TGFB1
factor beta)

• Replacement of the Bowman layer by connective • Bowman layer ‘curly fibres’ on electron
Histology
tissue bands microscopy

• Severe RCE in childhood

• RCE in childhood
• Grey–white geographic subepithelial opacities,
Clinical Features • Subepithelial opacities develop in a network of
most dense centrally increasing in density with
tiny rings or honeycomb-like morphology,
age to form a reticular pattern
predominantly involving the central cornea
• Reduced corneal sensation

• Treat RCE
Treatment • Not always necessary
• Excimer keratectomy achieves satisfactory role
Stromal Dystrophy
Lattice corneal dystrophy, TGFB1 type Lattice corneal dystrophy, gelsolin type

• Meretoja syndrome,
• Classic form
(Systemic condition rather than true corneal dystrophy.)
• LCD1
• LCD2

Inheritance • AD; gene TGFB1 • AD; gene GSN.

• Amyloid, staining with Congo red
Histology • exhibits green birefringence with a polarizing • Amyloid deposits in the corneal stroma
filter
• Recurrent erosions occur at the end of the first
• erosions are rare
decade
• Ocular irritation and late impairment of vision
• Blurring may occur later
• Sparse stromal lattice lines spread centrally from
• Refractile anterior stromal dots coalescing into a
Clinical Features the periphery.
relatively fine filamentous lattice that spreads
• Corneal sensation is impaired
gradually but spares the periphery
• Systemic features are Progressive cranial and
• Corneal sensation is reduced
peripheral neuropathy,mask-like facies, and
• generalized stromal haze may progressively
autonomic features
impair vision.
• penetrating or deep lamellar keratoplasty is
Treatment • Keratoplasty rarely be required
frequently required
 Granular corneal dystrophy, type 1 Granular corneal dystrophy, type 2
• Classic form • Avellino
• combined granular-lattice dystrophy
• AD • AD
Inheritance
Gene TGFB1. Homozygous disease gives more severe features. Gene TGFB1.

• Amorphous hyaline deposits

Histology • shows both hyaline and amyloid
• stains bright red with Masson trichrome

• Glare and photophobia, with blurring

• Recurrent erosions tend to be mild.
• Recurrent erosions are uncommon
• Visual impairment is a late feature.
• Discrete white central anterior stromal deposits resembling
• Signs are usually present by the end of the first decade in
Clinical Features sugar granules, breadcrumbs, or glass splinters separated
heterozygotes
by clear stroma
• Fine superficial opacities progress to form stellate or
• outward spread sparing the limbus
annular lesions, sometimes associated with deeper linear
• Gradual confluence diffuse haze leads to visual impairment
opacities
• Corneal sensation is impaired.

• penetrating or deep lamellar keratoplasty is usually required

• usually not required
Treatment by the fifth decade
• refractive surgery is contraindicated.
• excimer laser keratectomy for superficial recurrences.
 Macular corneal dystrophy
 Inheritance: Autosomal recessive (AR); gene CHST6
 Histology: Aggregations of glycosaminoglycans intra- and
extracellularly; stain with Alcian blue and colloidal iron
 Clinical features:
a) An early visual deterioration (end of the first decade);
b) recurrent erosions are very common
c) Dense but poorly delineated greyish-white spots centrally in
the anterior stroma and peripherally in the posterior stroma
d) Progression of the lesions occurs in conjunction with anterior
stromal haze, initially involving the central cornea
e) involvement of full-thickness stroma, extending to the
limbus with no clear zone.
f) Thinning is a fairly early feature, with late thickening from
edema due to endothelial dysfunction.
g) Sensation is reduced.
 Treatment:
 Penetrating keratoplasty. Recurrence is common
Schnyder (crystalline) corneal dystrophy
 This is a disorder of corneal lipid metabolism, associated
with some patients with systemic dyslipidemia
 Inheritance. AD; gene UBIAD1.
 Histology. Phospholipid and cholesterol deposits
 Clinical features:
a) Visual impairment and glare.
b) Central haze is an early feature
c) Progressing full-thickness involvement over time
d) Subepithelial crystalline opacities
e) Prominent corneal arcus is typical which gradually
progresses centrally leading to diffuse haze.
 Treatment:
 excimer keratectomy or corneal transplantation
 Descemet membrane and endothelial dystrophies
 Fuchs endothelial corneal dystrophy:
• This disorder is characterized by bilateral accelerated endothelial cell loss
• more common in women
• slightly increased prevalence of open-angle glaucoma
Inheritance. Most are sporadic, with occasional AD
Clinical features:
a) Gradually worsening blurring, particularly in the morning, due to corneal edema.
b) Onset is usually in middle age or later.
c) Cornea guttata: the presence of irregular warts or ‘excrescences’ on Descemet membrane secreted by abnormal endothelial
cells
d) Progression occurs to a ‘beaten metal’ appearance
e) Endothelial decompensation
f) Epithelial oedema develops in more advanced cases leading to bullous keratopathy
g) acute pain secondary to the exposure of nerve fibres due to rupture of bullae
h) Subepithelial scarring and peripheral vascularization
 Treatment:
a) Conservative
b) Management of ruptured
bullae
c) DSAEK
d) DMEK
e) Penetrating keratoplasty
f) Conj flap & AMG
g) Topical Rho-kinase
inhibitor with prior
transcorneal endothelial
cryotherapy
 Posterior
polymorphous corneal
dystrophy
 three forms,PPCD1–3.
 Associations include iris
abnormalities, glaucoma and
Alport syndrome
Inheritance is usually AD
Clinical features:
a) incidental diagnosis
b) Subtle vesicular, band-like or
diffuse endothelial lesions
 Treatment is not required.
 Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy, type 1 Congenital hereditary endothelial dystrophy, type 2
• Rare dystrophy in which there is focal or diffuse thickening of Descemet membrane and endothelial degeneration.
• visual acuity may surpass that expected from the corneal appearance
• CHED1 is AD • CHED2 is AR;
Inheritance
gene locus on chromosome 20. gene SLC4A11

• Photophobia and watering are common

• Photophobia and watering not present
Clinical Features • Corneal clouding and thickening develop during the first
• Corneal clouding and thickening are neonatal
year or two.
• Nystagmus is more common
• Nystagmus is not common

Treatment • Lamellar or penetrating keratoplasty

CORNEAL DEGENERATION
Age-related degeneration:
 As a result of aging cornea becomes flatter
 Its refrective index increases
 Descemet membrane become thicker (3µm at birth & 13µm in adults)
 With aging endothelial cells are lost(100,000 cells during first 50 yrs)
 Arcus senilis
 Arcus senilis (gerontoxon, arcus lipoides) is the most common
peripheral corneal opacity.
 Occurs without any predisposing systemic condition in elderly
individuals
 Associated with dyslipidaemia in younger patients (arcus
juvenilis).
Deposit location: Stromal lipid deposition
Clinical Features:
a) lipid deposition, initially in the superior and inferior
perilimbal cornea
b) progressing circumferentially to form a band about 1 mm
wide
c) The central border is diffuse, and the peripheral edge is
sharp and separated from the limbus by a clear zone
 Vogt limbal girdle
 It is an innocuous condition that is present in upto 60% of individuals over 40 years of age
 more commonly women are affected
 It consists of whitish crescentic limbal bands composed of chalk-like flecks centered at 9 and/or 3 o’clock, more often
nasally
 Two types
 Histologically the changes in both are similar to pinguecula and pterygium

type 1 type 2

• variant • more prevalent and is distinguished by the absence of

Clinical Features
• of band keratopathy, featuring a ‘Swiss cheese’ hole pattern • Holes
• clear area separating the lesion from the scleral margin • juxtalimbal clear zone
 Lipid keratopathy
Primary lipid keratopathy Secondary lipid keratopathy

• rare and occurs apparently Spontaneously
• It is characterized by white or yellowish, often with a
Clinical Features
crystalline element, stromal deposits consisting of
cholesterol, fats, and phospholipids
• not associated with vascularization
• much more common and is associated with previous ocular
injury or disease that has resulted in corneal
vascularization
• most common causes are herpes simplex and herpes zoster
keratitis

• medical control of the underlying inflammatory disease

Treatment • Photocoagulation or needle cautery (suture needle grasped with cautery forceps) of feeder vessels
• Penetrating keratoplasty
 Band keratopathy
 age-related deposition of calcium Salts
Deposit location: Bowman layer, epithelial basement membrane and
anterior stroma.
Causes
 Ocular
 Age-related
 Metabolic
Clinical Features:
 Peripheral interpalpebral calcification
 Gradual central spread to form a band-like chalky plaque containing
transparent small holes
 Advanced lesions may become nodular and elevated
Treatment:
 Chelation with EDTA 1.5–3.0%
 Other modalities includes diamond burr, excimer laser keratectomy and
lamellar keratoplasty
 Spheroidal degeneration
 Spheroidal degeneration (Labrador keratopathy, climatic droplet
 keratopathy) typically occurs in men whose working lives are spent
 Outdoors
Causes
 Ultraviolet exposure(primary)
 inflammation or injury(secondary)
Deposit location: Irregular proteinaceous deposits in the anterior or superficial
stroma that replaces the Bowman layer
Clinical Features:
 Amber-coloured granules in the peripheral interpalpebral cornea
 central spread
 Advanced lesions commonly protrude above the corneal surface
Treatment:
 Protection against ultraviolet damage with sunglasses
 superficial keratectomy or lamellar keratoplasty
 Salzmann nodular
degeneration
 Salzmann nodular degeneration consists of nodules of hyaline tissue
Deposit location: Anterior to the Bowman layer
Causes:
 chronic corneal irritation or inflammation
 trachoma,
 dry eye,
 chronic blepharitis
 chronic allergic keratoconjunctivitis
Clinical Features:
 Superficial stromal opacities
 Elevated whitish or blue–grey nodular lesions
 base of a nodule may be associated with pannus and epithelial iron deposition.
Treatment: mainly lubrication
 superficial keratectomy with Adjunctive mitomycin C