Corneal dystrophies are a group of hereditary corneal disorders characterized by bilateral non-inflammatory corneal opacities. They are classified based on the layer of the cornea involved, which can be the epithelium, stroma, or endothelium. Common types include epithelial basement membrane dystrophy, which causes recurrent corneal erosions, and granular corneal dystrophy type 1, characterized by discrete stromal deposits that increase in size over time. Management depends on the type and severity but may include lubricants, contact lenses, phototherapeutic keratectomy, or corneal transplantation.

1. Corneal Dystrophies
BY.DR.GAYATHRI JAGADESH (2nd yr ophthal Pg)
MODERATOR:DR.SWATHI .N(Professor)

2. Corneal Dystrophies
o Heterogenous group of non-inflammatory hereditary corneal disorders ;bilateral, non-vascularized
corneal opacities
o No systemic associations
o Corneal dystrophies should be suspected when transparency is lost or corneal opacities occur
spontaneously, particularly in both corneas, and especially in the presence of positive family history.

3. :

4. The ICBD (International Committee for classification of corneal dystrophies) (2015)
o Epithelial and subepithelial dystrophies
▪ Epithelial basement membrane dystrophy
(mostly degenerative, rarely C1)
▪ Epithelial recurrent erosion dystrophy
 Franceschetti corneal dystrophy
 Dystrophia Smolandiensis
 Dystrophia Helsinglandica
▪ Subepithelial mucinous corneal dystrophy
▪ Meesmann corneal dystrophy
▪ Lisch epithelial corneal dystrophy
▪ Gelatinous drop-like corneal dystrophy
o Epithelial- stromal TGFB1 dystrophies
▪ Reis-Bucklers corneal dystrophy
▪ Thiel-Behnke corneal dystrophy
▪ Lattice corneal dystrophy
▪ Granular corneal dystrophy
o Stromal dystrophies
▪ Macular corneal dystrophy
▪ Schnyder corneal dystrophy
▪ Congenital stromal corneal dystrophy
▪ Fleck corneal dystrophy
▪ Posterior amorphous corneal dystrophy
▪ Central cloudy dystrophy of Francois
▪ Pre-descemet corneal dystrophy
o Endothelial dystrophies
▪ Fuchs endothelial corneal dystrophy
▪ Posterior polymorphous corneal dystrophy
▪ Congenital hereditary endothelial dystrophy
▪ X-linked endothelial corneal dystrophy

5. Epithelial and Subepithelial dystrophies
o Involve the anterior most layer of the cornea
o Generally present in adults who may be asymptomatic or suffer from bouts of recurrent
corneal erosions associated with pain, lacrimation and blurring of vision with a varying
extent of corneal haziness

6. Epithelial Basement membrane dystrophy (Cogan dystrophy) [Map dot fingerprint
dystrophy, anterior basement membrane dystrophy, dystrophic recurrent erosion]
 Most commonly encountered anterior corneal
dystrophy
 Characterised by recurrent corneal erosions
 Onset : usually present in adult life
 Symptoms
o May be asymptomatic
o Recurrent erosions with pain, lacrimation
and blurred vision
o Irregular astigmatism
o Monocular diplopia
 Signs
o Best visualize by retroillumination or scleral
scatter
o Maps: Grey geographical patches
o Dots(Cogan): irregular , round or comma
shaped grey white intraepithelial opacities
o Blebs of Bron and Brown: small clear round
dots in a pebbled glass pattern
o Finger print lines: Parallel, Curvilinear,
refractile, branching lines with club shape
terminations
 Recent erosions occur due to lack of
hemidesmosomal connections between
epithelial cells

7.  Management:
o Corneal scraping debridement followed by a soft contact lens for 24-48 hours and topical antibiotics and
lubricants
o Conservative therapy with hypertonic sodium chloride
▪ It acts by dehydrating the epithelium allowing it to adhere better
▪ Lubricating eyedrops
o Stromal puncture
▪ 23-25 gauge needle
▪ Anterior stromal puncture by Nd:YAG
o Phototherapeutic Keratectomy
▪ Excimer laser with low pulse energy and low number of pulses
▪ [Shallow ablations with mean ablation depth of 46 microns have been recommended for decreased
complications]

8. Epithelial recurrent erosion dystrophy (Franceschetti) [Smolandiensis,
Helsinglandica]
o Symptoms :
▪ Onset is usually in the first decade of life
▪ Redness, photophobia, epiphora, ocular pain
▪ Recurrent attacks precipitated by exposure to sunlight, dust, smoke and lack of sleep
▪ Increased sensitivity of eyes
▪ Attacks decline by fourth and fifth decades and cease by 50 years
o Signs
▪ Recurrent corneal erosions spontaneously or after minimal trauma
▪ Diffuse, central, subepithelial opacification with subepithelial fibrosis
▪ Central corneal keloid like opacities seen in Smolandiensis variant
o Management
▪ Keratoplasty
 Recurrence after approximately 15 months

9. Subepithelial mucinous corneal dystrophy
o Symptoms : Onset is by frequent recurrent corneal erosions in the first decade. Subside during
adolescence with formation of subepithelial opacities
o Signs : Bilateral, homogenous subepithelial haze (dense centrally and fades peripherally)
o Management :
▪ Management of recurrent corneal erosions
▪ Phototherapeutic keratectomy is a potential treatment modality

10. Meesmann corneal dystrophy [Juvenile Hereditary ED; Stocker-Holt]
o It is a rare non progressive abnormality of
corneal epithelial metabolism.
o Bilateral, diffuse involving accumulation of
intracytoplasmic debris in the corneal
epithelium with the formation of epithelial
cysts
o Symptoms :
▪ Onset : early childhood [12 months of age :
clinical signs]
▪ Usually asymptomatic till 4th or 5th decade
▪ Mild visual reduction, glare, light sensitivity
or painful recurrent epithelial erosions
▪ Blurred vision
o Signs:
▪ Tiny intraepithelial cysts of uniform size but
variable density is maximal centrally and
extend towards limbus
▪ Cornea may be slightly thinned and
sensation reduced
o Treatment
▪ Ocular lubricants
▪ Therapeutic contact lenses
▪ Rx for corneal erosions in severe cases

11. Lisch epithelial Corneal dystrophy
o Band-shaped and whorled microcytic dystrophy of corneal epithelium
o Symptoms:
▪ Onset : childhood
▪ Slowly progressive
▪ Usually asymptomatic
▪ Blurred vision if the pupillary zone is involved
o Signs:
▪ Localized grey opacities of varying patterns (whorl like, radial, band shaped, flame or feathery, club
shaped)
▪ Intraepithelial multiple, densely crowded microcysts with clear surrounding epithelium
o Management
▪ Corneal scrapings
▪ Wearing contact lenses

12. Gelatinous drop like corneal dystrophy [subepithelial amyloidosis, primary
familial amyloidosis]
o Symptoms
▪ Onset : 1st-2nd decade
▪ Decreased vision, photophobia, irritation,
redness and lacrimation
o Signs
▪ Clusters of small multiple nodules and acquire a
mulberry configuration
▪ Stromal opacification or larger kumquat like
lesions in advanced stages
▪ Hyperpermeability of corneal epithelium [late
staining of Fluorescein]
▪ Superficial vascularization
o Management
▪ Surgical management may be required for visual
rehabilitation
 Superficial Keratectomy
 Corneal transplant procedures like lamellar
keratoplasty or penetrating keratoplasty
▪ Recurrence is common [usually after 5 years]
▪ Phototherapeutic keratectomy is useful for
corneal opacities that recur after lamellar grafts

13. Epithelial stromal TGFB1 dystrophies
o These dystrophies result from mutations in TGFB1 gene encoding keratoepithelin which
binds to type I, II and IV collagens
o Mutation of the gene acts by inhibiting cell adhesion

14. Reis Bucklers Corneal Dystrophy
▪ It primarily involves the Bowman’s layer with
secondary alterations in the epithelium and the
stroma
▪ Symptoms:
 Onset: first decade of life
 Recurrent corneal erosions
 Pain, redness, tearing and visual impairment
 Becomes less severe after second decade
 Slowly progressive deterioration of vision
owing to diffuse opacification is seen
▪ Signs:
 Irregular coarse geographic opacities at
Bowman’s layer and superficial stroma
 Generalised replacement of Bowman’s layer
by irregular collagen fibres
 Corneal sensations are decreased
▪ Management
 Conservative treatment of recurrent corneal
erosions
 Excimer keratectomy
 Adjunctive application of topical mitomycin-
C 0.02% helps in reducing recurrence
 Corneal electrolysis for subepithelial
opacities in RBCD
 Keratoplasty in severe cases

15. Thiel-Behnke Corneal dystrophy
▪ Symptoms
 Slow progressive deterioration of vision that begin in childhood
 Pain, redness, tearing due to recurrent erosions
▪ Signs
 Subepithelial reticular honeycomb like opacities, sparing the peripheral cornea in early stages,
however opacities progress to deep stromal layers and corneal periphery in advanced cases
 Corneal sensations are typically normal

16. Lattice corneal dystrophy (Biber-Haab-Dimmer)
▪ Symptoms:
 Onset : 1st to 2nd decade of life
 Ocular discomfort and pain due to recurrent corneal erosions
 Progressive visual impairment significant around 4th decade
▪ Signs:
 Central superficial flock like opacities
 Refractile anterior stromal dots coalescing into a relatively fine filamentous lattice that spread
gradually but spares the periphery
 Generalized stromal haze which may progressively impair vision
 Corneal sensation is reduced
▪ Treatment : Penetrating or deep lamellar keratoplasty; recurrence is common

17. Familial Amyloidosis [Finnish or Meretoja type] [Gelsolin type LCD]
▪ Systemic condition
▪ Symptoms:
 Onset after 20 years
 Ocular irritation, late impairment of vision
(6th decade)
 Erosions are rare
 Bilateral involvement
▪ Signs
 Sparse stromal lattice lines spread centrally
from the periphery
 Corneal sensation is impaired
▪ Systemic features
 Progressive cranial and peripheral
neuropathy
 Mask like facies and autonomic features
 Dysarthria
 Dry and extremely lax itchy skin
 Protruding lips with impaired movement
 Pendulous ears
 Blepharochalasis
▪ Management:
 Treatment of recurrent epithelial erosions
 Amniotic membrane transplantation may
be done for persistent epithelial defects
 Phototherapeutic keratectomy
 Corneal transplant (keratoplasty) in cases
with visually significant epithelial scarring
and corneal haze
 Recurrence common

18. Granular corneal dystrophy type 1
▪ GCD type 1 [Corneal dystrophy Groenouw type 1]
▪ Symptoms:
 Onset in 1st decade
 Glare and photophobia
 Visual acuity decreases as opacification progresses with age
 Recurrent erosions are unknown
▪ Signs:
 Discrete white central anterior stromal deposits
 Gradual increase in number and size of deposits with deeper and outward spread sparing the limbus
 Corneal sensation is impaired
▪ Management:
 Penetrating or deep lamellar keratoplasty
 Superficial recurrences may require repeated excimer laser keratectomy

19. Granular corneal dystrophy type 2
▪ Symptoms:
 Onset in 1st to 2nd decade
 Mild recurrent corneal erosions
 Visual impairment is a late feature
▪ Signs
 Fine superficial opacities progress to form stellate or annular lesions, sometimes associated
with deeper linear opacities
▪ Management:
 femtosecond assisted lamellar keratoplasty
 Corneal trauma accelerates progression
 Refractive surgery is contraindicated

20. Stromal dystrophies

21. Macular corneal dystrophy [Groenouw corneal dystrophy type II, Fehr speckled
dystrophy]
 Symptoms
o Onset: childhood
o Slowly progressive course
o Recurrent corneal erosions are common
o Reduced corneal sensitivity
o Visual impairment occur early
 Signs:
o Dense but poorly delineated greyish-white
spots centrally in the anterior stroma and
peripherally in the posterior stroma
o Opacities are elevated
o Progression of lesions occur in conjunction
with anterior stromal haze initially
involving the central cornea.Eventual
involvement of full thickness stroma,
extending to the limbus with no clear
zone.
o Thinning of cornea in early stage, with late
thickening due to stromal imbibition of
water from endothelial decompensation
o In advanced stage, Descemet membrane
develop guttate excrescences
o Corneal sensations are reduced
 Management : Penetrating keratoplasty;
Recurrence is common

22. Schnyder (crystalline) corneal dystrophy
▪ Disorder of the corneal lipid metabolism often associated with syndromic dyslipidemia
▪ Symptoms: glare; visual impairment
▪ Signs:
 Central haze progressing to more widespread full thickness involvement
 Subepithelial crystalline opacities in 50% cases.
 Prominent corneal arcus gradually progressing centrally leading to diffuse haze
• Treatment: Excimer keratectomy; Corneal transplantation

23. Central cloudy dystrophy of francois:
• Polygonal grey opacities
• Resemble crocodile shagreen.

24. Fleck corneal dystrophy
▪ Symptoms
 Congenital or occurs in the first few years of life
 Non progressive
 Mostly asymptomatic with mild photophobia in some cases
▪ Signs
 Multiple symmetric minute opacities in the stroma
 Corneal sensation is usually normal
▪ Management : does not require treatment

25. Congenital stromal corneal dystrophy
▪ Symptoms
 Rare, congenital, non-progressive or slowly progressive
 Moderate to severe visual loss
 Strabismus and glaucoma association seen in some patients
 Corneal erosions, photophobia and corneal vascularization are absent
▪ Signs
 Bilateral opaque flaky or feathery areas of clouding in the stroma [multiply with age and
eventually preclude visibility of the endothelium]
 Corneal stromal thickness increased
▪ Management
 Keratoplasty in cases of visually disabling opacities

26. Posterior amorphous corneal dystrophy
▪ Symptoms:
 Onset in the 1st decade
 Visual acuity is minimally impaired
▪ Signs:
 Irregular, amorphous sheet like opacities in posterior corneal stroma and Descemet’s
membrane with transparent corneal stroma between opacities
 Non corneal manifestations including irido-corneal adhesions, corectopia and pseudopolycoria
▪ Management
 Conservative management with refractive correction
 Keratoplasty may be required in few cases

27. Pre-Descemet Corneal dystrophy
▪ Symptoms
 Onset: usually after 30 years of age (sometimes in first decade of life)
 Usually asymptomatic
 Vision usually unaffected
▪ Signs
 Focal, fine, polymorphic gray opacities in the deep stroma

28. Endothelial dystrophies

29. Fuchs endothelial corneal dystrophy
 Characterised by bilateral accelerated endothelial
cell loss and progressive deterioration of vision
 Onset: 4th decade or later; most commonly affects
female
 Symptoms
o Blurring particularly in the morning due to
corneal oedema
o Progressive visual loss
o Pain, foreign body sensation, photophobia
 Signs
o Stage 1 (Stage of cornea guttata)
o Stage 2 (Stage of endothelial decompensation)
o Stage 3 (Stage of bullous keratopathy)
o Stage 4 (Stage of scarring)

31.  Management:
o Dehydrating agents for early oedematous stage
o Anti-glaucoma agents in cases with concomitant glaucoma
o Supportive treatment for ruptured bullae
o Topical Rho-kinase inhibitor with prior transcorneal endothelial
o Keratoplasty: corneal transplant is the definitive treatment for advanced cases of FCD
▪ Penetrating keratoplasty
▪ Endothelial keratoplasty (DSAEK) (Descemet’s stripping automated)
o Cataract surgery may
be required in many FCD

32. Posterior Polymorphous Corneal dystrophy
 Dystrophic endothelial cells acquire epithelial characteristics leading to secondary abnormalities in the Descemet’s
membrane
 Symptoms:
o Onset is usually in childhood
o Mostly asymptomatic, non-progressive or slowly progressive
o Vision loss may also be secondary to irido-corneal adhesions and glaucoma
 Signs:
o Subtle vesicular, band-like or diffuse endothelial lesions
o Non-keratoconic corneal steepening
o Peripheral iridocorneal adhesions (25% cases)
o Elevated IOP (15%) cases
o Lipid deposition or band keratopathy in advanced cases
 Management
o Most cases are asymptomatic and may not require treatment
o Corneal transplantation may be required in severe cases

33. Congenital hereditary endothelial dystrophy (Maumenee CD)
 Rare dystrophy with focal or diffuse thickening
of Descemet membrane and endothelial
degeneration
 Symptoms
o Onset at birth
o Bilateral asymmetric involvement
o Stationary to slow progressive course
o Diffuse corneal clouding along with history
suggestive of photophobia (by parents)
o Inability to fixate on objects and involuntary
eye movements
 Signs
o Corneal clouding and thickening are
neonatal in CHED2 and develop during the
first year or two in CHED1
o Visual impairment is variable
o Nystagmus is common in CHED2
o Long standing cases may display band
keratopathy and subepithelial amyloidosis
 Management
o Corneal transplantation

34. X-linked endothelial corneal dystrophy
 Symptoms
o Females are asymptomatic
o Males complain of clouding of cornea from birth with slowly progressive blurred vision
 Signs
o In females, moon-crater like endothelial changes are the only clinical findings
o In males
▪ Congenital clouding
▪ Milky appearance
▪ Moon crater like endothelial changes along with secondary
subepithelial band keratopathy
▪ Nystagmus is often associated
 Management
o Early cases: refractive correction and medical management
o Advanced cases: corneal transplantation

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