corneal dystrophy and degeneration are very important factor for visual control especially in elderly people. there are various various classification on corneal dystrophy., which are based on disease etiology and progression of disease. timely intervention is required to save the vision.

1. Dr. Niraj Yadav
JR-1Opthalmology
UPUMS SAIFAI

2.  The word dystrophy is derived from the Greek
(dys = wrong, difficult; trophe =
nourishment) and was introduced into the
medical literature by Wilhelm Erb in 1884, in
describing a disease of the musculature.
 Bucklers, whose name was later attached to
Reis–Bucklers corneal dystrophy
(RBCD), published the first classification of
the corneal dystrophies.

3.  It is a group of progressive usually bilateral
mostly genetically determined ,non
inflammatory opacifying disorders.
 Typically abnormal substance accumulates in
cornea .
 Usually autosomal dominant but some are
recessive.
 Not associated with systemic illness

4. Characterstics DYSTROPHY DEGENERATION
Definition Abnormal substance
accumulates in the
cornea. Isolated from
the cornea
Secondary
deterioration or
deposition in the
cornea
Corneal Location Central Peripheral
Laterality Bilateral Often Unilateral
Symmetry Symmetric Asymmetric
Vascularization None Common
Family History Common Uncommon
Age of onset 1st or 2nd decade 4th decade or later

5.  Category 1: A well-defined corneal dystrophy
in which the gene has been mapped and
identified and specific mutations are known.
 Category 2: A well-defined corneal dystrophy
that has been mapped to 1 or more specific
chromosomal loci, but the gene(s) remains to
be identified.

6.  Category 3: A well defined corneal dystrophy
in which the disorder has not yet been
mapped to a chromosomal locus.
 Category 4: This category is reserved for a
suspected new, or previously documented,
corneal dystrophy, although the evidence for
it, being a distinct entity, is not yet
convincing

7. 7
 1.Epithelial dystrophy
 2.Bowman`s
membrane dystrophy
 3.Stromal dystrophy
 4.Descemet
membrane dystrophy
 5.Endothelial
dystrophy

8. 8
Epithelial
Cogan Meesmann Lisch

9. Lisch
Meesman
Cogan
(epithelial
BM dys)
Type
AD,X-linked
(xp22.3)
AD, Mutation
in keratin gene.
Sporadic,AD
Inheritance
Ocular irritation
Ocular irritation
Recurrent corneal
erosion in 10%
Symptom
Whorled
configuration,
micro cyst.
Myriad
cyst,thin
cornea,reduce
sensation
Dot-like,map-
like,microcyst,finger
print. Bleb like
subepith. pebbled
glass pattern
Sign
ThickBM.
ThickBM.
ThickBM,protein
dep.,absent
hemidesmosomes
Histology
Lubricant
Lubricant
Lubricant
Treatmen
t

10. BEST VISUALISED ON RETROILLUMINATION
AND SCLERAL SCATTER

11. •Multiple tiny epithelial cysts
•Whorled and wedge shaped epithelial patterns.
•Maximum centrally
•Clear in retro illumination
•Grey in direct illumination

12. Direct illumination shows-grey opacities in different patterns:
Whorled configuration, radial band shaped, flame or feathery
shaped and club shaped
Retro illumination shows- multiple densely crowded microcyst
with clear surrounding epithelium.

13.  Usually occurs in 1st decade of life.
 Genetic locus is 1p32 & gene involved is tumour
associated calcium signal transducer-2 [TACSTD2].
 Autosomal recessive inheritance.
 Symptoms: diminished vision, photophobia, irritation,
redness and tearing.
 Sign: sub epithelial lesion similar to band shaped
keratopathy or group of multiple nodule in the form of
mulberry configuration.
Superficial vascularisation is frequently seen.
Stromal opacification or larger nodular lesion(
kumquat like lesion) may appear later in life.

14.  Usually occurs in first decades of life.
 Autosomal dominant inheritance.
 Symptoms are precipitated by minimal trauma in
the form of redness, photophobia, epiphora and
ocular pain.
 Sign: corneal erosions are seen during attack
typically at 4-6year of age.
Subepithelial haze or blebs may be seen between
the attacks.
Central subepithelial corneal opacities may be
present.

15. Bowman layer or
anterior stromal dystrophies
(REIS –BUCKLERS
DYSTROPHY)
CDB1
(THIEL-BEHNKE
DYSTROPHY)
CDB2

16. 16
CDB2(THEIL BEHNKE
DYS)= honeycomb
shaped CD
CDB1(REIS BUKLERS
DYS) GCD3 geographical
corneal dystrophy
Type
AD(10q24, 5q31) 1
decade
AD (5q31)
1 &2 decade
Inheritance
Recurrent corneal
erosion.
Recurrent corneal erosion,
vision,
Photophobia , irritation
Symptoms
Subepithelial opacities
(honeycomb)
configuration.
Fine,round,polygonal
subepithelial opacities.
Signs
B.L replaced by curly
fibers.
B.L & B.M replaced by
fibrous tissue.
Histology
Not necessary
Lubricant,
E.L keratectomy
Treatment

17.  Also known as corneal basement membrane dystrophy
type1(CBD1) and variant of granular corneal dystrophy
type3(GCD3)
 central corneal opacities develop in a fishnet, or ring-like
pattern
 Mainly affect the central and mid peripheral cornea, sparing
the peripheral cornea.
 Diffuse superficial stromal haze evolves with increased
central corneal thickness
 irregular astigmatism and decreased corneal sensation
 Prominent corneal nerves are often present
 Lesions stain pink with Masson’s trichrome
 Electron Microscopy reveals presence of rod shaped bodies.

19.  Features are generally less severe than reis
bucklers.
 Histology: bowman layer curly fibres on
electron microscopy.

21.  Occurs during 1st and 2nd decades of life.
 Autosomal dominant inheritance.
 Signs: bowman layer demonstrates variable
patterns of opacification from diffuse mottling
to diffuse gray white opacities. The cornea
between the deposits is clear.
 Symptoms: decreased to normal visual acuity.
Recurrent corneal erosion may cause ocular
discomfort and pain.

22. Stromal
Lattice I
Lattice II
Lattice III
Gelatinous
CD
Granular
CDI
Granular
CDII
Macular
CD
Francois
CD

23. 23
Lattice III
Lattice II
Lattice I
Type
AD(5q31) late
onset 70-90 years
AD(9q34) 2nd
decade
AD(5q 31) 1st
decade
Inheritance
Photophobia,
decreased VA ,
Watering.
Recurrent corneal
erosion
Recurrent corneal
erosion
Symptoms
Thick rope-like
band lattice.
Radial periphery
located short,fine
lattice,
↓corn.sensation.
Glassy dots, fine
lattice, outward
spread stromal
haze,↓corn.sensat
ion
Signs
Amyloid deposition
Amyloid and
hyaline deposition
Amyloid
deposition
Histology
Keratoplasty if it
affect the vision.
Keratoplasty if
affect the vision.
Keratoplasty if
affect the vision.
Treatment

28.  AR inheritance.(1p32)
 Rare mainly affecting Japanese
people so called Japanese
type amyloid corneal
dystrophy.
 Usually presented at 1st or 2nd
decade with severe
photophobia , watering and
visual impairment.

29.  Bio microscopical
examination shows:
Grey subepithelial
nodules which increase
in size and confluence
then giving rise to
Mulburry-like
appearance.

30. 30
 Histologically there is
sub epithelial and
anterior stromal
deposition of amyloid.
 This condition should
be treated with
repeated superficial
keratectomy as
recurrence in graft is
very high.

31.  GCDI GCDII(Avellino)
 AD(5q31) AD(5q31)
 1st decade 2nd decade
 Recurrent erosion. Rec. eros. Uncommon

32. 9/30/2023
GCDI( Granular CD type 1):classic
 Centrally located corneal
opacities
(ring,snowflake,crubms,sugar
granules)not reaching limbus.
 Overall appearance gives the
shape of christmas tree.
 Corneal sensation decrease.
 VA impaired at advanced stage.
GCDII(granular-lattice dys.)
 Centrally dens opacities
(ring,disc,star,snowflake) like
GCDI
 Overall pattern radially spread
like Lattice dystrophy .

33.  GCDI histology shows amorphous hyaline deposits
which stain bright red with Masson trichrome.
 GCDII histology shows both hyaline and amyloid in
the stroma that stains with Masson trichrome and
Congo red.

34.  GCDI has to be
treated by
keratoplasty usually
at 5th decade when
there is visual
impairment while
 GCDII most of the
time does not
require any
treatment.

35.  AR, genetic locus16q22.
 It is least common type CD.
 systemic inborn error of
keratan sulphate metabolism.
 only corneal manifestations.
 It has been divided into
clinically indistinguishable
types I, IA and II depending
on the presence or absence
of antigenic keratan sulphate
in the serum and cornea;
these have been shown to be
due to mutations in the same
carbohydrate
sulfotransferase gene
(CHST6).

36.  Histology shows
abnormally close
packing of collagen
in the corneal
lamellae and
abnormal
aggregations of
glycosaminoglycans
which stain with
Prussian blue and
colloidal iron

37.  1st decade
Biomicroscopy shows:
 :Anterior stromal haze, initially involving the central cornea.
 • Greyish-white, dense, focal, poorly delineated spots in the
anterior stroma centrally and posterior stroma in the
periphery.
•Superficial deposits may produce an irregularity of the
corneal surface, although recurrent erosions are unusual.
• Increase in size and stromal haze .
• Increasing opacification with eventual involvement of full-
thickness stroma up to the limbus, associated with corneal
thinning.
 Treated by keratoplasty but recurrence may occur.

38. 1. It has AD Inheritance.
2. Polygonal, cloudy grey
opacities separated by
relatively clear spaces, in the
posterior stroma, most
prominent centrally, creating
a leather-like appearance.
3.The signs are similar to
posterior crocodile shagreen
but it is differentiated by its
central, posterior location and
mode of inheritance.
4. Treatment is not required.

39.  Autosomal dominant inheritance.
 Genetic locus is 1p36 & gene involved is UbiA
Prenyltransferase domain containing I-UBIAD1.
 Sign: Round ring shaped central corneal
opacities due to deposition of fine needle like
cholesterol crystals. Decrease in corneal
sensation with age.
 Symptoms: visual acuity decreases with age.
Glare increases with age.

41. Endothelial Corneal dystrophy
Fuchs
endothelial
dystrophy
Posterior
polymorphous
CD.
Congenital
hereditary
endothelial
dystrophy.

42.  Fuchs endothelial dystrophy)FED) is
characterized by bilateral accelerated
endothelial cell loss.
 more common in women(4:1) usually in 5th
and 7th decades of life.
 associated with a increased prevalence of
open-angle glaucoma.
 Inheritance may occasionally be AD although the
majority are sporadic.
 Genetic locus is 13p.
 Onset of this slowly progressive disease is
commonly in old age, although earlier onset can
occur.

43. 
. clinical feature can be divided into following four stages.
 1. stage of corneal guttata: it is characterised by presence
of Hassall-Henle type of excrescences in the central part of
cornea.
 2. stage of endothelial decompensation or oedematous
stage: characterised by early stromal oedema and epithelial
dystrophy.
 3. stage of bullous keratopathy: marked epithelial oedema
with formation of bullae.
 4. stage of scarring: In this stage epithelial bullae are
replaced by scar tissue. the condition may some times may
be complicated by secondary infection or glaucoma.

44.  •Cornea guttata refers
to irregular warts or
‘excrescences’ of
Descemet membrane
secreted by abnormal
endothelial cells.
 • Specular reflection
shows tiny dark spots
caused by disruption
of the regular
endothelial mosaic
 • Progression occurs
to a ‘beaten metal’
appearance which may
be associated with
melanin deposition.

45.  Endothelial decompensation
gradually leads to central
stromal oedema and
blurred vision, worse in the
morning and clearing later
in the day.

Epithelial oedema develops
when stromal thickness has
increased by about 30%.
 .
Persistent epithelial oedema
results in the formation of
microcysts and bullae
(bullous keratopathy) which
causes pain and discomfort
on rupture, thought to be
due to exposure of naked
nerve endings.

46. a Conservative options include
topical sodium chloride 5%
drops or ointment, reduction of
intraocular pressure and using
a hair dryer to speed corneal
dehydration in the morning
b Bandage contact lenses provide
comfort by protecting exposed
nerve endings and flattening
bullae.
c Penetrating or deep lamellar
endothelial keratoplasty has a
high success rate and should
not be delayed.
d Other options in eyes with
poor visual potential include
conjunctival flaps and amniotic
membrane transplants.

47.  Cataract surgery may accelerate endothelial cell loss
and result in decompensation.
 A ‘triple procedure’ (cataract surgery, lens
implantation and keratoplasty) should be considered in
eyes with corneal epithelial oedema or when
preoperative pachymetry measurement is greater than
640 µm.
 If corneal thickness is less than 640 µm, a good visual
outcome is to be expected.

48.  Posterior polymorphous corneal dystrophy) PPCD) is a
rare, innocuous and asymptomatic condition in which
corneal endothelial cells display characteristics similar
to epithelium.
 There are three forms, PPCD1-3, each caused by
mutations in different genes
 Autosomal dominant inheritance.
 The gene VSX1has been implicated in PPCD1.
 PPCD2 is caused by mutation in COL8A2 gene.
 PPCD3 is caused by mutation in ZEB1 gene.

49.  Symptoms start at birth or soon
thereafter, although it is most
frequently identified by chance in
later life.
 Signs consist of subtle vesicular
endothelial lesions that may
become confluent band-like lesions
or diffuse opacities which may be
asymmetrical.

Ocular associations include iris
abnormalities, glaucoma and Alport
syndrome.
 Treatment is not required.

50.  Congenital hereditary
endothelial dystrophy
)CHED) is a rare
dystrophy in which
there is focal or
generalized absence
of corneal
endothelium. There are
two main forms,
CHED1 and CHED2, the
latter being more
severe .

51. CHED1: It is AD with the gene
locus on 20p11.2-q11.2.
CHED2: It is AR inheritance with
the gene locus on 20p13,
SLC4A11 gene.
 It starts perinatally.
 Microscopically there is
bilateral, symmetrical, diffuse
corneal oedema resulting in a
blue-grey, ground-glass
appearance to total
opacification •
 Visual impairment is variable
and visual acuity may surpass
that expected from the corneal
appearance.

52.  Endothelial changes in form of moon crater
like appearance and peau d orange texture.
 Corneal clouding ranging from diffuse haze
to ground glass, milky appearance.
 Thickening of cornea 2-3 times of normal.
 Sub epithelial band keratopathy may be seen.
 IOP may be elevated rarely.

53.  Treated by lamellar or penetrating keratoplasty which
has a reasonable chance of success when performed
early but is risky and technically more difficult than in
adults. Undue delay in surgical intervention carries the
risk of dense amblyopia.
 CHED can be differentiated carefully with other causes
of neonatal corneal opacification such as congenital
glaucoma, rubella , keratitis mucopolysaccharidoses,
birth trauma and sclerocornea.

54.  It occurs congenitally and is a progressive
condition in males & non progressive in females.
 Genetic locus is Xq25.
 Inheritance is X-chromosomal dominant.
 Sign and symptoms: male patients have blurring of
vision a/w corneal clouding.
moon crater like endothelial changes.
 Subepithelial band shaped keratopathy.
 Nystagmus may be associated.
 Female patients are asymptomatic having only
moon crater like endothelial changes.

55. KERATOCONUS
It is a condition in which the cornea becomes
conical.
Etiology is supposed to be hereditary.
Symptoms: diminished vision due to high
astigmatism, photophobia, monocular diplopia.
Signs: Munson's sign- cornea appear conical
axially with the lower lid indented on looking
down.
Benedict Rizzuti sign- a flash light shown on
one side get focussed on other side.

56.  Corneal reflections of a grid or window is
distorted.
 Keratometry shows irregular misaligned mires.
 Corneal topography can document the changes
of curvature of cornea.
 The corneal nerves are prominent.
 The apex may shows hydrops & later causes
opacity.
 Vertical stress lines (Vogt's band) are seen in
deep stroma.
 Distant direct ophthalmoscopy shows ring
shaped dark shadow between central and
peripheral cornea.
 Treatment: hard contact lens or RGP. Thermo &
penetrating keratoplasty can be done.

57.  Keratoglobus
 Microcornea: AD inheritance, size<10mm
 Megalocornea: X-linked recessive, size>
13mm
 Sclerocornea: bilateral opacification and
vascularisation of peripheral cornea.

58.  SMOLIN AND THOFT TEXT BOOK OF CORNEA
 KANSKI TEXT BOOK OF CLINICAL
OPHTHALMOLOGY
 NET

59. THANK YOU