ophthalmology presentation for postgraduates, corneal dystrophies overveiw, by Dr. Safaa Refaat , FRCSG Ophth.

1. BY:BY:
DR. SAFAA REFAATDR. SAFAA REFAAT
FRCSG Ophth, MSc,FRCSG Ophth, MSc,
MBBSMBBS

2. CORNEAL DYSTROPHIES
Hereditary disorders that
progressively affect the
central part of both corneas
& are not associated with
inflammation.

3. CORNEAL DYSTROPHIES
A-EP.& B.M. DYSTOPIES:
• Epithelial.
• Epithelial B.M.
B-STROMAL DYSTROPHIES:
• Bowman’s layer
• Stroma
• Pre Descmet’s
C-ENDOTHELIAL DYSTROPHY

4. CORNEAL DYSTROPHIES
A-EP.& B.M. DYSTOPIES:
1. Ep: Mesman’s dystrop
2. Ep.B.M.: Map/Dot/finger print
B-STROMAL DYSTROPHIES:
Bowman’s layer:
1. Reis-Bücklers dystrophy (CDB) I
2. Honeycomb-shaped dystrophy (CDB) II
3. Anterior membrane dystrophy of Grayson-
Wilbrandt.
4. Subepithelial mucinous corneal dystrophy.

5. Stroma:
1. Granular.
2. Lattice dystrophy (I,III,IIIA,& IV)
3. Macular I & II
4. Avellino’s Dystrophy.
5. Gelatinous Droplike Dystrophy
6. Central Crystalline Dystrophy (Schnyder's)
7. Marginal Crystalline Dystrophy (Bietti's)
8. Central Cloudy Dystrophy (François')
9. Fleck dystrophy(François-Neetens)
10. Parenchymatous dystrophy of Pillat
11. Posterior Amorphous Stromal Dystrophy
12. Congenital Hereditary Stromal Dystrophy

6. Pre Descmet’s:
1. Cornea farinata
2. Grayson-Wilbrandt Dystrophy
3. Deep Filiform Dystrophy

7. C-ENDOTHELIAL DYSTROPHY
1. Congenital hereditary corneal
dystrophy
2. Fuchs' Dystrophy (Late Hereditary
Endothelial Dystrophy)
3. Posterior Poly morphous dystrophy

8. A-EP.& B.M. DYSTROPHIES:
1. Epithelial:
Meesman’s dyst.
 AD.
 1st
few mo.
 Symptoms 4th
decade
 Intraepithelial
pseudocyst containing
desquamated cellular
debris.

9. 2.Ep.B.M.:Map/Dot/finger print (A.B.M.)
AD
Sporadic
2nd
3rd
decade
The most
common dyst.
Most common
cause of REE.
Irregular
astigmatism.
Dots
Fingerprints
Cysts
Maps

10. Four types of lesions - in isolation or combination
MicrocystsDots
Maps Fingerprints
Signs of Cogan dystrophy

11. Pathology of A.B.M.D.
Abnormal multilaminar BMintra epithelially
 blocks the normal migration of epithelial
cells  Trapped epithelial cells 
microcysts & dots
Abnormal BM Map & Fingerprints.

12. (Treatment)
•Débridement .
•Superficial keratectomy.
•Lubricants, hypertonic saline-bandage soft CL.
•Anterior stromal reinforcement or puncture.
• PTK .

13. B-STROMAL DYSTROPHIES:
BOWMAN’S LAYER:
1.Reis-Bücklers dystrophy (CDB) type I
•AD
•1st
2nd
decade.
•Patchy geographic
opacities at the level of BM
 central reticulated
opacities with stromal
haze.
• Peripheral cornea spared.
•Sensation diminished.

14. Reis-Bucklers dystrophy
..
Painful REE.
Attacks typically
occurs 5 times / y.
Stabelize after 3rd
decade.
 VA decreased.
Treatment.
....………………………
....................................

15. 2.Honeycomb-shaped dystrophy of
Thiel and Behnke.
•(CDB) type II.
•AD - Childhood
•Fragmentation of the collagen fibrils of Bowman's layer.

16. 3.Anterior membrane dystrophy of
Grayson- Wilbrandt.
AD
Varient of Reis-Bücklers
10-11y.-In Japanese
bilateral ring shaped
corneal opacities at
adolescence
Gray-white mound-like
opacities, protruding
into the ep. Sparing the
periphery

17. 4.Subepithelial mucinous corneal dystrophy
AD
Early childhood REE
Diffuse homogenous sub ep. Hase &
gray white patches fading toward the
limbus.

18. STROMA
1.Granular Dystrophy (Groenouw's Type I)
AD.
Onset Early adolescence with REE
Sharply demarcated, milky, opaque lesions resembling
snowflakes or bread crumbs. intervening cornea is
clear
Superficial & extend more posteriorly during evolution.

19. Clinical varients
Dense axial non
translucent gray-white
deposits simulating bread
crumbs
More discrete and well-
defined round and oval
shapes, clear stroma.
Christmas tree–like
opacities with anterior
stromal scarring.
Pathol.: Irregularly shaped
hyaline deposits within
Bowman's layer and
anterior stroma.

20. 2.Lattice dystrophy(primary corneal amyloidosis)
I II III & IV.
AD
>10 y.
No systemic
association
REE
VA impaired 40-60 y
AD
< 20 y.
Systemic association
REE
VA good until 65y
III  AR , <40y.
III A  AD, 70-90 y.
No systemic
association
No REE
VA impaired after 60y

21. Lattice dystrophy type I
Fine, spidery, branching lines
within stroma.
Later general haze may
submerge lesions.
Progression

22. Lattice dystrophy type II
(Familial amyloidosis with lattice dystrophy, Meretoja syndrome)
Mask-like facies
Mask-like faciesl
Blepharochalasis,
Floppy ears
Protruding lips
Cranial and peripheral
nerve palsies
Skin  Dry, itchy, and
lax with amyloid
deposits
Renal and cardiac
failure.

23. Thick translucent lattice lines,
diffuse subep. opacities.
Lattice dystrophy type III

24. 3.Macular Dystrophy(Groenouw's Type II(
AR
(3-9y(
Initial dense, poorly
delineated opacities
Later generalized
opacification
Thinning
Progression

25. PATHOLOGY
•Central superficial cloudeness
 progress entire corneal
width & thickness gray
illdefined denser opacities
appear within this sea of
haziness
Protrudes:
-ant.irregular surface.
- post. irregular descmet's with
guttate appearance.
CCC.
•Corneal thinning.
•Localized mucopolysaccharidosis
•primary involvement of end.
&descmet’s

26. 4.Avellino’s Dystrophy.
AD
1st&2nd decade
1-Anterior stromal
granular deposits
2-mid to posterior
stromal lattice lesions
3-anterior stromal hase
Hyaline and amyloid
deposition
4th & 5th Decade REE

27. 5.Gelatinous Droplike Dystrophy
(primary familial amyloidosis of the cornea(
AR
1st decade
Amyloid interposed between the epithelium and
Bowman's layer.
PHOTOPHOBIA & LACRIMATION VA..

28. 6.Central Crystalline Dystrophy
(Schnyder's(
AD
2nd Decade
polychromatic
crystals.in Bowman's
layer and the
anterior stroma
Neutral fats and
cholesterol
cholesterol and lipid
studies is important .

29. 7.Marginal Crystalline Dystrophy (Bietti's(
AD
Crystalline deposits in the paralimbal anterior
stroma
associated with a retinal pigmentary abnormality
AD
Axial, posterior, cloudy
opacities.
Clear intervening stromal
linesmosaic pattern.
Association  PEX
8.Central Cloudy Dystrophy (François'(

30. 9.Fleck dystrophy(François-Neetens(
AD rare
very early, ? congenital.
Grayish specks are in all
layers oval,rounded,
Comma,stellate.
Associations
Keratoconus, angioid
streaks, pappillitis, limbal
dermoid, punctuate
cortical lens opacities.

31. 10.Parenchymatous dystrophy of Pillat:
AD very rare
6th decade
Deep stromal opacities (punctate or filamentous(
11.Posterior Amorphous Stromal Dystrophy
4 mo. , at birth
Gray amorphous sheet like opacities involving the
stroma posteriorly  clear intervening stroma
thinning
Ass. Iris & angle abnormalties.
12.Congenital Hereditary Stromal Dystrophy:
AD
Congenital
Feathery clouding of the stroma.

32. Pre Descmet’s
1.Cornea farinata:?
Small gray punctate opacities
association with ichthyosis
2.Grayson-Wilbrandt
Dystrophy:
Pleomorphic opacities larger and
more diffusely scattered than those
in cornea farinata.
3. Deep Filiform Dystrophy:
Middle-aged woman with
keratoconus
multiple filiform gray opacities
sparing the perilimbal region.

33. C-ENDOTHELIAL DYSTROPHY:
1. Congenital hereditary endothelial
dystrophy.
2. Fuchs' Dystrophy (Late Hereditary
Endothelial Dystrophy(
3. Postrior Poly morphous dystrophy

34. 1.Congenital hereditary corneal dyst.
AR at birth nonprogres-
sive, Nys-tagmus is common.
AD first or second year of
life progressive, photophobia
and tearing.No nystagmus.
Diffuse corneal edema
Thinning or Uniform thickening
of Descemet's membrane but
no guttata
Rule out congenital glaucoma
 A combination may occur.

35. Guttata
Peripheral  Hassall-Henle bodies
Central & numerous guttat
Secondary cornea guttata.
Beaten-metal appearance of Descemet's membrane 
excrescences abnormal basement membrane and fibrillar
collagens by distressed or dystrophic endothelial cells.
with brownish pigmentation

36. 2.Fuchs endothelial dystrophy
Eventually bullous
keratopathy
Later central stromal
oedema
Gradual increase in
cornea guttata with
peripheral spread
Progression
AD 5th
6th
decade
Edema starts axially peripherally
Discrete (guttate) and diffuse thickening of
Descemet's membrane

37. PATHOLOGY
Progressive deterioration
of the endothelial function.
Abnormal basement
membrane adhesion
complexes breaks in
Bowman's layer,
subepithelial debris and
fibrovascular pannus.
Diffuse thickening of
Descemet's membrane (20
µm or more) and
posteriorly projecting
excrescences .

38. • Subtle, vesicular, geographic, or
band-like lesions
• Frequently asymmetrical
3.Posterior polymorphous dystrophy
AD
POLYMORPHOUS
OPACITIES VESICULAR
OR ANNULAR WITH
SURROUNDING HALOS
PAS.
Normal VA , Usually No
stromal edema or
vascularization.
? Endothelial
decompensation.

39. Posterior polymorphous dystrophy
An aberrant
differentiation of the
neural crest as in
ICES
Endothelial cells
morphologically and
immunopathologicall
y resemble
epithelium
EM myriad
microvilli

40. CORNEAL DYSTROPHIES
ALL ARE AD EXCEPT:
Lattice type III  AR
Macular  AR
Gelatinous  AR
Congenital hered.end. dyst.  AR (one
variant)
Mesman’s  AR is recorded
ABMD  sporadic is recorded

41. GENETICS
Big-h3 L :5 q31 (Human TGF beta
induced gene ,kerato-epithelin) :
Reis Buckler’s
Granular
Lattice
Avellino