CORNEAL_DYSTROPHIES_Autosaved_DHBbwn.pptx

1. CORNEAL DYSTROPHIES
Presenter : Dr Nikhil Agrawal (1st year resident)
Moderator : Dr Parikshit Dhir
DHIR HOSPITAL AND POSTGRADUATE INSTITUTE OF OPHTHALMOLOGY

2. Introduction
• Non- inflammatory corneal opacifying disorders.
• Characteristic features:
Usually have a strong pattern of inheritance
Bilateral and symmetric
Little to no relationship with systemic and environmental factors
Begin early in life but clinically apparent later in life
Slowly progressive
FEATURES EXCEPTIONS
Bilaterality Posterior polymorphous corneal
dystrophy usually unilateral
Systemic Factors Schnyder corneal dystrophy assosciated
with hypercholesterolemia
Hereditary Epithelial Basement Membrane
Dystrophy has no hereditary basis

3. FEATURES DEGENERATION DYSTROPHY
Onset Associated with aging , presents
later in life
Hereditary , presents in childhood
Laterality Unilateral or bilateral Bilateral
Family History Uncommon Common
Vascularisation Common Uncommon
Location Peripheral Central
Progression Variable Generally slow

4. Classification
• According to anatomic layer affected , genetic basis , clinical and pathological
information :
International Committee for the Classification of Corneal Dystrophies (IC3D)

5. • Autosomal Recessive :
Gelatinous Droplike
Corneal Dystrophy
Macular Corneal
Dystrophy
Congenital Hereditary
Endothelial Dystrophy
• X Linked Dominant
• Lisch Epithelial Corneal
Dystrophy

6. Epithelial and Subepithelial
Dystrophies

7. Epithelial Basement Membrane Dystrophy
• Alternative names :
• Map- dot- fingerprint dystrophy
• Anterior basement membrane
dystrophy
• Cogan microcystic epithelial
dystrophy
• Inheritance No well- documented
inheritance(rarely AD) ; may be
degenerative
• Common in women , 40-70 years
,bilateral .

8. Epithelial Basement Membrane Dystrophy
• Symptoms: Recurrent epithelial erosions(pain on
waking up) ,blurred vision(astigmatism) , monocular
diplopia.
• 50% of patients with recurrent corneal erosions have
EBMD.
• PATHOLOGY EBMD is an abnormality of epithelial
turnover, maturation, and production of basement
membrane.

9. Epithelial Basement Membrane Dystrophy
• Chronic recurrent erosions :Patching, Bandage soft contact lens, Protective shield
during sleep .
• Surgical management:
• Epithelial debridement with diamond burr polishing
• Anterior stromal puncture
• Phototherapeutic keratectomy (PTK)
Scalloped line of tear film thinning

10. Meesmann Epithelial Corneal Dystrophy
• Inheritance : Autosomal dominant (AD) , mutation in corneal keratin .
• Rare, bilateral, symmetrical , seen in early age as central microcysts(myriad cyst
) and vesicles .
• Vesicles appear as minute bubble- like blebs

11. Meesmann Epithelial Corneal Dystrophy
• Symptoms : Mild ocular irritation , slight
decrease in vision, glare and light
sensitivity, painful recurrent erosions may
occur.
• Histology:
 Intraepithelial cysts stain positively with
periodic acid– Schiff .
Electrondense accumulation of fibrogranular
material surrounded by tangles of cytoplasmic
filaments (peculiar substance) within epithelial
cells .
• Lubricants , soft contact lens

12. Gelatinous Droplike Corneal Dystrophy
• Alternative names: Subepithelial amyloidosis, primary
familial amyloidosis
• Inheritance: Autosomal recessive (AR)
• Clinical Features:
• Onset in the 1-2 decade of life.
• Multiple small nodules (mulberry configuration)
• Fluorescein stain positive, superficial
vascularization ,stromal opacification .
• Recurrent epithelial erosions (significant decrease
in vision), with photophobia, irritation, and tearing

13. Gelatinous Droplike Corneal Dystrophy
• Subepithelial and stromal amyloid deposits : congo red stain .
• Surgical treatment options include superficial keratectomy, PTK ,lamellar
keratoplasty or penetrating keratoplasty . High recurrence rate
• Differential Diagnosis: Spheroidal Degeneration (Yellowish spherules)

14. Lisch Epithelial Corneal Dystrophy
• Inheritance: X-chromosomal dominant
• Discrete sectorial, band-shaped and feathery gray lesions
, dense clear microcysts .
• Patients is pain free.
• Decrease in vision : Corneal debridement
• Contact lens and PTK may also help .

15. Meesmann Epithelial Corneal
Dystrophy
Epithelial Basement Membrane
Dystrophy

16. Epithelial– Stromal TGFBI
Dystrophies

17. Reis- Bücklers Corneal Dystrophy
• Alternative names: Corneal dystrophy of
Bowman layer type 1 (CDB1), atypical granular
corneal dystrophy
• Inheritance: Autosomal Dominant
• Appears in the first 4-5 years of life.
• Confluent, irregular, and coarse geographic
opacities in the central cornea which may
extend to the limbus and deeper stroma .
• Presents at 1-2 decade with painful recurrent
epithelial erosions , marked reduction in vision.

18. Reis- Bücklers Corneal Dystrophy
• Initial treatment is for recurrent erosions.
• Superficial keratectomy, PTK, LK, PK, may be performed in later stages
Stained red with
Masson Trichome
Disrupted Bowman layer

19. Thiel- Behnke corneal dystrophy
• Alternative names: Corneal dystrophy of Bowman
layer type 2 (CDB2), honeycomb shaped corneal
dystrophy
• Inheritance AD
• Clinical Presentation: Onset occurs in the 1-2
decade of life, solitary flecks , honeycomb pattern
reticular opacity.
• AS- OCT demonstrates hyperreflective material at
the level of Bowman layer in a characteristic
sawtooth configuration .
Bowman
replaced with
fibrofatty tissue

21. Lattice Corneal Dystrophy Type 1
• Alternative names: Biber- Haab- Dimmer
• Inheritance: AD
• Onset is from 1-2nd decade , progressing to marked
visual loss by 4th decade .
• Refractile lattice lines ,subepithelial ovoid white
dots, and diffuse anterior stromal haze .
• Stroma develops ground- glass appearance in the
center ,periphery is spared .
• Epithelial erosions start from 1st decade of life and
are recurrent .

22. Lattice Corneal Dystrophy Type 1
• Amyloid stains rose to orange- red with
Congo red dye and metachromatically
with crystal violet dye . Amyloid also
exhibits birefringence .
• Therapeutic bandage soft contact lenses,
superficial keratectomy, or PTK. DALK or PK
in severe cases .
Congo Red Stain
Apple-green Birefringence in Polarized
Light

23. Lattice Corneal Dystrophy Type 2
• Alternative names: Familial Amyloidosis , Meretoja Syndrome
• Inheritance: AD , Gene: Gelsolin
• Ocular irritation, late impairment of vision, erosions are rare .
• Lattice lines from periphery to center .
• Systemic disease , not a true dystrophy
• Systemic Features :
• Characteristic facial mask
• Dermatochalsis
• Lagophthalmos
• Neuropathies
• Amyloid deposits

24. Granular Corneal Dystrophy Type 1
• Alternative names: Classic granular dystrophy
• Inheritance: AD
• Onset at 2 years , slowly progressive
• Bilateral crumblike greyish-white opacities in the
anterior central stroma. Later in the disease
lesions become more confluent but do not extend
to the limbus .
• Patients report decreased vision , glare and
photophobia. Recurrent erosions are also seen .

25. Granular Corneal Dystrophy Type 1
• Stains positively for hyaline as bright red
with Masson trichrome .
• Early in the disease process no treatment is
need .
• DALK or PK has a good prognosis.

26. Granular Corneal Dystrophy Type 2
• Alternative names: Avellino corneal dystrophy
• Inheritance: AD
• CLINICAL PRESENTATION: Lattice lesions +
granular lesions. Stellate shaped, snowflake- like,
and icicle- like opacities .
• Opacities stain with the Masson trichrome and
Congo red stain both .
• Treatment on same line as type 1 .

27. Stromal Dystrophies

28. Macular Corneal Dystrophy
• Inheritance: AR
• Entire corneal stroma including the periphery is involved .Clouding starts from 1st decade .
Patients initially show superficial, irregular, whitish, flecklike opacities that evolve into focal, gray-
white, superficial stromal opacities with intervening haze. Guttate+/- , no corneal edema .

29. Macular Corneal Dystrophy
• Severe visual impairment between 10 to 30 years of age .
• The deposits in MCD are glycosaminoglycans (GAGs) they stain with colloidal iron and
alcian blue .
• Definitive treatment requires PK or DALK, and recurrences are uncommon.
Alcian Blue Colloidal Iron

30. Schnyder Corneal Dystrophy
• Inheritance: AD
• Rare, slowly progressive , apparent from 1st year of life
• Changes, which are progressive and predictable by age, include the
following:
• Ring or disc like full stromal thickness central corneal
opacification with or without subepithelial crystals: In 2nd
decade of life
• Dense corneal arcus; 3rd decade of life
• Midperipheral corneal opacification: 4th decade of life
• Corneal sensation decreases with age
• Abnormal lipid profile (2/3 patients)

31. Schnyder Corneal Dystrophy
• Disproportionately reduces photopic
vision , glare increases with progression.
• The opacities are accumulations of
unesterified and esterified cholesterol
and phospholipids , stain with oil red O
and Sudan black .
• Patients older than 50 years usually
require corneal transplant surgery to
eliminate haze. The dystrophy can recur
after PK or DALK.
• Lipid profile should be checked , even
unaffected family members can have
hyperlipidemia .
1. Crystals 2. Dense Arcus
3. Midperipheral Haze

32. Congenital Stromal Corneal Dystrophy
• Inheritance: AD
• Diffuse, bilateral corneal clouding with
flakelike, whitish opacities throughout the
stroma.
• Amorphous deposition between stromal
lamellae . Reduced diameter of collagen
fiber .
• Refractive error correction, amblyopia
therapy and strabismus surgery . In
advanced cases, PK is recommended. DALK
can be considered if the diagnosis is certain.

33. Fleck Corneal Dystrophy
• Alternative names: François- Neetens speckled corneal
dystrophy
• Inheritance: AD
• Discrete, flat, gray- white, dandrufflike opacities
appear throughout the corneal stroma.May be
unilateral or bilateral.
• Non-progressive , may present in 1st decade of life .
• Deposits : Glycosaminoglycan ( alcian blue and
colloidal iron) ; and lipids( Sudan black B and oil red O)

34. Endothelial Dystrophies

35. Fuchs Endothelial Corneal Dystrophy
• Inheritance: Gene has been identified and mapped (COL8A2) and the
specific mutation identified. No known inheritance , AD in some cases
• Presents in the fourth decade of life.
• Signs:
 Guttata on Descemet's membrane: the guttata tend to be central and slowly become more
prominent peripherally
 Stromal edema
 Endothelial folds
 Epithelial microcysts
 Epithelial bullae
 Sub-epithelial fibrosis
 Stromal haze and scar formation
• Symptoms : Decrease in vision (more in the morning) , contrast
sensitivity, and glare. Pain may result from ruptured bullae or
microcystic edema .
• Cornea guttae may become confluent and take on a “beaten metal”
appearance.

36. Fuchs Endothelial Corneal Dystrophy
• Polymegethism and pleomorphism of endothelial cells
• Hypertonic sodium chloride drops and ointment (5%)
and measures taken to reduce intraocular pressure
(IOP).
• Either DSAEK or DMEK in absence of scarring . If
significant stromal scarring is present: PK.
• In cases where the guttae are confined to the central
cornea, Descemet stripping only (DSO), with the
addition of a topical Rho kinase (ROCK) inhibitor to
stimulate endothelial proliferation .

38. Posterior Polymorphous Corneal Dystrophy
• Inheritance: AD
• CLINICAL PRESENTATION
• Isolated grouped endothelial vesicles
• Geographic- shaped, discrete, gray lesions
• Broad endothelial bands with scalloped
edges
• Various degrees of stromal edema,
corectopia, and broad iridocorneal adhesions
• Unilateral cases can be seen

39. Posterior Polymorphous Corneal Dystroph
• Abnormal corneal endothelial cells that look and behave
like epithelial cells or fibroblasts
• Microvilli
• Multilayer growth in cell culture
• Positive immunohistochemical staining for keratin
• Intercellular tight junctions
• Proliferative tendencies
• Most patients are asymptomatic.

40. Congenital Hereditary Endothelial Dystrophy
• Inheritance: AR
• CLINICAL PRESENTATION : Asymmetric corneal
clouding and edema , focal gray spots are occasionally
observed .
• Stromal thickening , sparse atrophic corneal
endothelial cells.
• Corneal transplant is required. Amblyopia may limit
the visual outcome.

41. REFERENCES
• AAO, Section8 ,External Disease and Cornea ,2021–2022 BCSC Basic
and Clinical Science Course™
• https://eyepath.org.uk/wp-
content/uploads/2016/02/IC3D_Classification_of_Corneal_Dystrophi
es_Edition.2.pdf

45. • CONFOCAL MICROSCOPY???

46. Posterior Amorphous Corneal Dystrophy
• Inheritance: AD
• Presents in the first decade of life with a
nonprogressive ,diffuse, sheetlike, gray- white
opacity in the posterior cornea . The cornea is
flat (< 41.00 diopters) and thin (≥380 µm) and
there is associated hyperopia .
• Focal endothelial abnormalities, a prominent
Schwalbe line, fine iris processes, iridocorneal
adhesions, corectopia, pseudopolycoria, and
anterior stromal tags have been noted.
• Disorganization of the posterior stromal lamellae
, focal attenuation of corneal endothelial cells .

47. Pre- Descemet Corneal Dystrophy
• Inheritance No definite pattern of inheritance .
• Onset usually after 30yrs
• Focal fine, polymorphic, gray opacities that may be
central, annular, or diffuse are seen in the deep
stroma just anterior to Descemet membrane .
• Large keratocytes are present in the posterior stroma,
with vacuoles and intracytoplasmic inclusions
containing lipid-like material.

48. CATARACT SURGERY IN PATIENTS WITH FUCHS
DYSTROPHY
• A combined keratoplasty and phacoemulsification with intraocular lens (IOL)
insertion is best performed
• When corneal edema is pre sent
• If pachymetry readings are significantly greater in the morning
• If the patient reports blurred vision in the morning
• If confluent guttae are pre sent without edema, the patient may be satisfied with
cataract surgery alone.
• If there are symptoms of glare due to extensive guttae and thickened Descemet
membrane, the patient may benefit from endothelial keratoplasty (EK).
• It is important to warn patients with Fuchs dystrophy about the possibility of later
corneal decompensation.

50. Recurrence
• Definition: Biomicroscopic finding of recurrent disease with decrease
in visual acuity by two lines or more , or with recurrent erosions ,
glare , photophobia symptoms .
• Granular : Almost evertime
• Lattice :5.2%
• Macular : 48%