1. Dr. K. Vasantha M.S.,F.R.C.S. Edin
Director & Superintendent
RIO Chennai (Rtd)

2.  Dys means wrong or difficult
 Trophy means nourishment
Arthur Groenouw in 1890

3.  Bilateral
 Symmetric
 Slowly progressive
 Non inflammatory, avascular
 Not related to environmental or systemic
factors
 Inherited

4.  Epithelial basement dystrophy is not
inherited
 PPD may be unilateral
 Systemic changes may be seen in macular
and lattice dystrophy

5.  Visual acuity is affected by intra ocular
light scattering by the opacities or edema.
 Disruption of the geometric image caused
by the irregular corneal surface and the
stromal deposits
 Irregular astigmatism

6. 1. Unilateral with asymmetric lesions
mostly in periphery accompanied by
vascularisation.
2. Normal cells of particular structure
undergo some pathologic changes
(aging, trauma , inflammation & systemic
disease)

7. IC3D classified dystrophies based on
1. Anatomy based
Epithelium, Stroma or Endothelium
2. Evolution based
Mendelian, environment or mutation

8.  Category 1- genetic factors are clearly
known
 Category 2- Chromosome known but gene
loci not known

9.  Category 3-not been mapped to specific
chromosome
 Category 4- disorder in which the
evidence for it being a distinct entity is
not yet convincing

10.  Meesmann’s dystrophy – KRT3, KRT12
 Reis Buckler, Thiel Behnke, granular type
1 and 2 and lattice type1- TGFB1
 Mutations occur in 7 genes of 10
chromosomes

11.  Epithelial
 Micro cysts or vesicles
 Seen with indirect or retro illumination
 No recurrent erosion and PTK does not
help
 Epithelial cells have increased glycogen
 Degenerated epithelial cells and thick
basement membrane.

12.  Map dot finger print opacities
 This is due to basement membrane
extending in to the epithelium, preventing
the migration of the epithelial cells
 Recurrent corneal erosion and blurring of
vision

13. Meesman’s
Map-dot finger-print
Reis Buckler’s
•Bandage extended-
wear soft contact
lenses
•Debridement/superfic
ial keratectomy
•Excimer laser
phototherapeutic
keratectomy

14.  Reis Buckler
 Thiel Behnke – honey comb dystrophy

15.  1-classic
 2-with lattice and stromal haze (Avellino
dystrophy)
 3- Reis Buckler
 TGFB1 mutation of Arg 555Trp at 5q31
gene locus and it is MIM 121900 –
category 1
 Starts in the first or second decade

16.  Hyaline,
 Masson’s trichrome
 Deposits are non collagenous proteins
with tryptophan, tyrosine, arginine and
sulphur containing amino acids
 Treatment: PTK, graft

19. Granular lesions first and then lattice in
the deeper stroma, later stromal haze
SYMPTOMS.: Irritations, photophobia &
decreased vision Ch5q31, TGFB1 gene
MIM 607541

20.  See the clear space in between the bread
crumb like opacities
 Because of this the vision will be reasonably
clear for many years
 If the vision is affected due to some other
reason like cataract it is better to deal with
that and see if you can avoid keratoplasty

23. Groenouw type II
 AR, Bilateral
 Ist decade of life
Starts in central portion of anterior layers
of stroma. Grayish White opacities and
diffuse clouding of cornea extends up
to limbus
Later deeper layers will be involved

24.  TGFB1 MIM 217800, Ch 16q22.1
 Type 1- no detectable antigenic keratan
sulphate
 Type 2- normal amount of antigenic
keratan sulphate
 Type 1A- serum lacks detectable KS but
keratocytes react with antibodies

25.  Stains with Alcian blue and colloidal iron. Not
at all with Masson’s
 Abnormal glycosamino glycon instead of
keratan sulphate, extra and intra cellular
 A localized mucopolysaccharidosis
 Mutation in a carbohydrate sulfotransferace
gene

26. Autosomal dominant
 Bilateral
CLINICAL FEATURES : Symptoms of
recurrent erosion,
White round dots, small refractile lines
causing faint central haze .
Auto fluorescence

27.  Deposits – Amyloid in nature, poor
epithelial stromal adhesion,
 loss of hemidesmosomes
 PAS and Congo red stain are used
Birefringent appearance is seen.
 With congo red dichroism is seen with
polarized light

28. Positive staining is seen with antibodies to
human amyloid
Ch 5q 31 is the gene affected

29.  Meretoja
 Manifests later, fewer opacities
 Systemic- peripheral neuropathy, facial
palsy, bulbar palsy, lax facial skin, sense
of touch and vibration affected, carpal
tunnel syndrome, autonomic disturbance,
cardiac conduction abnormality

30.  Glaucoma with or without pseudo
exfoliation
Mutated gelsolin deposits in the arteries,
skin, nerves and sclera
 Basement membrane is normal in type 2
where as in type 1 it is disrupted
 Ch 9 q 34

31.  Local ocular disease
 Trauma
 Gelatinous dystrophy – recurs quickly after
keratoplasty
 Polymorphic amyloid degeneration

33.  Rare
 Bilateral grey, disc like polychromatic
cholestrol crystals, early arcus
 Associated with hyper cholesterolemia
 No direct hyperlipidemia
 Scandinavian countries
 Oil red o, reduced corneal sensation

34.  Bietti’s peripheral crystalline dystrophy
 Cystinosis
 Dysproteinemias
 Multiple myeloma
 Waldonstorm’s macroglobinemia
 Hodgkin’s, cryo globulinemia
 Benign monoclonal gammopathy

35.  Flat, grey or white discrete opacities
 Limbus to limbus
 Bowman’s membrane and epithelium
normal and smooth
 Decreased corneal sensation
 Excess glycosamino glycans in the
keratocytes

36.  Symmetric central stromal opacity with
thinning
 D.D - posterior polymorphous dystrophy
pre Descemet’s dystrophy, CHED, CHSD,
Interstitial keratitis, Posterior crocodile
sheen, macular dystrophy

37.  Category 4
 Fine grey dots or linear deposits in the
posterior stroma
 Starts after 30 yrs
 Normal vision
 Types- polymorphic amyloid degn.,
cornea farinata (flour like) –aging, deep
filiform deposits

38.  Associated with pseudo xanthoma
elasticum, ichthiosis, keratoconus, PPD,
epithelial dystrophy, central cloudy
dystrophy
 Stains with oil red O, phospholipid and
neutral fat deposition due degeneration

39.  Bilateral, asymmetric, II or III decade
 Vesicles or bands or diffuse opacities in
the DM level
 Cell aggregates appear like black spots
disrupting the endothelial mosaic
 Bands have scalloped edges unlike
Congenital glaucoma, trauma and hydrops

40.  Edema of cornea
 peripheral anterior synechiae,
 Sometimes thinning and keratoconus may
occur
 Grafts fail due to retro corneal membrane

41. D.D. : ICE
Electron microscopy- large squamous
cells are seen which may grow even over
trabecular meshwork.

43.  Category 1,
 AD, decorin_DCN gene, 12q21.33 locus,
MIM 610048
 Disorder in stroma causing fibrogenesis
 Mainly central anterior stroma
 Normal epithelium
 Amblyopia, nystagmus, esotropia

44.  Thinner collagen fibrils 15 instead of 30
nm
 Normal stromal layers interspersed with
loosely and randomly arranged fibers.
 Abnormal anterior band of DM
 In CHED stromal bands are seen between
DM and endothelium

45.  Mucopolysaccharidosis
 Buphthalmos – high IOP, enlargement of eye
ball
 Rubella- will be inflamed
 Forceps delivery- tears in Descemet’s
 Anterior segment dysgenesis

46.  Dominant or recessive
 Photopsia and tearing first in dominant
 Thick stroma
 Category 2 because ? Ch 20p11.2-q11.2
 Epithelial phenotypia with positivity for
cytokeratin 7

47.  Ground glass, first week to 6 months, slow
 Irregular epithelium
 Fine nystagmus
 Category 1 ch20p13-12
 Seven missense and nonsense mutations are
seen in SLC4A11 gene

48.  Harboyan syndrome -CHED 2 and deafness
 In recessive early PK and poor prognosis
 Edema, fibrosis, thick stroma, thick DM
 Terminal differentiation of neural crest cells
are affected.
 Endothelium almost absent
 X linked dystrophy also can occur

49.  CORNEA GUTTATA : AD, F > M
Middle age
Starts as golden hue in central cornea &
spreads peripherally.
Corneal thickness and endothelial counts
are usually normal
Specular Microscopy: shows dark spots
against a hexagonal pattern

50. Primary endothelial dystrophy with secondary
epithelial involvement
 Bilateral
 Elderly women
Central cornea affected first
 Decreased Corneal sensation
 HPE : Thickening of Descemet’s Membrane

51.  Endothelial cells become irregular
 Excess collagen in the D.M. layer
 Mushroom like excrescences in the posterior
part of DM which appears as guttata
 Break down of barrier function

53.  Keratoplasty will be needed wherever
vision is affected.
 In stromal dystrophies anterior lamellar
keratoplasties will be adequate
 In Fuchs endothelial keratoplasty can be
done in early stages