CORNEAL DYSTROPHIES

1. PARTH VORA
T.Y. B.OPTOM

2.  Corneal dystrophy is a bilateral inherited disorders and it is
usually progressive.

3.  Epithelial & Subepithelial dystrophies
1. Epithelial basement membrane dystrophy (EBMD)
2. Epithelial recurrent erosion dystrophy (ERED)
3. Sub epithelial mucinous corneal dystrophy (SMCD)
4. Mutation in keratin genes:Meesmann corneal dystrophy
(MECD)
5. Lisch epithelial corneal dystrophy (LECD)
6. Gelatinous drop-like corneal dystrophy (GDLD)
 Bowman layer dystrophies
1. Reis-Bucklers corneal dystrophy (RBCD)
2. Thie-Behnke corneal dystrophy type 3 (TBCD)
3. Grayson-Wilbrandt corneal dystrophy

4.  Stromal dystrophies
1. TGFβ1 corneal dystrophies
a) Lattice corneal dystrophy
i. Classic lattice corneal dystrophy 1 (LCD 1)
ii. Lattice corneal dystrophy,gelsolin type 2 (LCD 2)
b) Granular corneal dystrophy
i. Granular corneal dystrophy,type 1(classic) (GCD 1)
ii. Granular corneal dystrophy,type 2(classic) (GCD 2)
iii. Granular corneal dystrophy,type 3 (GCD 3)
2. Macular corneal dystrophy (MCD)
3. Schnyder dystophy (SCD)
4. Congenital stromal corneal dystrophy (CSCD)
5. Fleck corneal dystrophy
6. Posterior amorphous corneal dystrophy (PACD)
7. Central cloudy dystrophy of Francois (CCDF)
8. Pre-descemet corneal dystrophy (PDCD)

5.  Descemet membrane & Endothelial
dystrophies
1. Fuchs endothelial corneal dystrophy (FECD)
2. Posterior polymorphous corneal dystrophy (PPCD)
3. Congenital hereditary endothelial dystrophy 1 (CHED 1)
4. Congenital hereditary endothelial dystrophy 2 (CHED 2)
5. X-linked endothelial corneal dystrophy (XECD)

6. EPITHELIAL
BASEMENT
MEMBRANE
DYSTROPHY
EPITHELIAL
RECURRENT
EROSION
DYSTROPHY
SUBEPITHELIAL
MUCINOUS
CORNEAL
DYSTROPHY
MUTATION IN
KERATIN GENES
:MEESMAN
CORNEAL
DYSTROPHY
LISCH
EPITHELIAL
CORNEAL
DYSTROPHY
GELATINOUS
DROP-LIKE
DYSTROPHY
INHERITANCE:
no inheritance
INHERITANCE:
autosomal
dominant
INHERITANCE:
autosomal
dominant
IINHERITANCE:
autosomal
dominant
INHERITANCE:
X-linked
chromosomal
dominant
INHERITANCE:
autosomal
recessive
Onset,course,sy
mptom:
presents in
adult life,rarely
seen in children.
Asymptomatic
or recurrent
erosion with
pain
,lacrimation &
blurred vision.
Except for the
bleb pattern,
on-axis lesions
may also cause
blurred vision
due to irregular
astigmatism.
Onset,course,sy
mptom: Erosion
appear typically
at 4-6 years of
age some times
as early as 8
months of age
then decline in
frequency in
intensity &
cease by 50
years. they are
precipitated by
minimal trauma
& are in the
form of attack
of
redness,photop
hobia, ocular
pain.
Onset,course,sy
mptom: Onset is
in first decade
of life &
progressive loss
of vision occurs
in adolescence.
It include
painful episodes
of recurrent
corneal erosion
which decrease
during
adolescence.
Onset,course,sy
mptom: occurs
in early
childhood & is
slowly
progressive with
variant stocker
holt dystrophy
with mild visual
reduction
patient
complains glare
& light
sensitivity,
recurrent
painful
epithelial
erosions. Rarely
blurred vision
results from
corneal
irregularity &
scarring.
Onset,course,s
ymptom:
occurs in
childhood with
slow
progression of
opacities.
Asymptomatic
blurring of
vision occurs if
pupillary zone
is involved.
Onset,course,symp
tom: occurs in first
decade of life & is
progressive.
Significant
decrease in vision
,photophobia,irrita
tion,redness,tearin
g.

7. EPITHELIAL
BASEMENT
MEMBRANE
DYSTROPHY
EPITHELIAL
RECURRENT
EROSION
DYSTROPHY
SUBEPITHELIAL
MUCINOUS
CORNEAL
DYSTROPHY
MUTATION IN
KERATIN GENES
:MEESMAN
CORNEAL
DYSTROPHY
LISCH EPITHELIAL
CORNEAL
DYSTROPHY
GELATINOUS
DROP-LIKE
DYSTROPHY
SIGNS : MAPS:
irregular island of
thickened, gray
,hazy epithelium
with scalloped
circumscribed
borders, affecting
the central or
paracentral cornea.
DOTS: irregular
round ,oval or
comma shaped,
non staining,
putty-gray
opacities.BLEBPATT
ERN: sub epithelial
pattern like pebbled
glass best seen by
retro illumination ..
FINGERPRINT LINES:
parallel ,curvilinear
lines, usually
paracentral,best
seen in retro
illumination,
isolated or
combined with
maps.
SIGNS :
CORNEAL
EROSIONS:are
seen during 4-6
years of age
sometimes as
early as 8 months
of age &
generally decline
in frequency &
intensity & cease
by 50
yrs.SUBEPITHELIA
L HAZE OR BLEB:
may be seen
between attacks
CENTARL
SUBEPITHELIAL
CORNEAL
OPACITIES: may
appear as early as
7 yrs of age.
SIGNS :
It include bilateral
sub epithelial
opacities & has
most dense
centrally, involving
the entire cornea.
SIGNS :
Multiple tiny
epithelial vesicles
which extend to
the limbus & are
most numerous in
the inter palpebral
area with clear
surrounding
epithelium .
Whorled & wedge
shaped epithelial
patterns have
seen. Cornea;
thickening &
reduction in the
corneal sensation
may be seen. the
entire cornea
demonstrate
fine,grayish
punctuate
epithelial
opacities that stain
with flurorescein &
fine linear
opacities that may
appear in a whorl
pattern .
SIGNS :
Direct
illumination:
shows localised
gray opacities in
different pattern.:
whorl like radial,
band shaped
,flame. INDIRECT
ILLUMINATION:
demonstrates
multiple,densly
crowded clear cyst
with clear
surrounding
epithelium.
SIGNS :
SUBEPITHELIAL
LESIONS: appear
initially may be
similar to band
shaped
keratopathy or
there may be
groups of small
multiple nodules,
that is mulberry
configuration
SUPERFICIAL
VASCU
LARISATION: is
frequently seen.

9. REIS-BUCKLERS CORNEAL
DYTROPHIES
THIEL-BEHNKE CORNEAL
DYSTROPHY
GRAYSON-WILBRANDT
CORNEAL DYSTROPHY
INHERITANCE: autosomal
dominant
INHERITANCE: autosomal
dominant
INHERITANCE: autosomal
dominant
ONSET,COURSE: also known as
dystrophy of bowman layer
type 1.occurs in childhood &
cause slowly progressive
deterioration of vision.
ONSET,COURSE: is also known
as dystrophy of Bowman layer
type 2 occurs in childhood &
slowly progressive
deterioration of vision from
increase corneal opacification.
ONSET,COURSE: occurs during
first to second decade of life &
condition is progressive.
SYMPTOMS: vision is impaired
from childhood. Erosions
cause ocular discomfort and
pain in first decade but may
become less severe from the
end of second decade.
SYMPTOMS: erosion cause
ocular discomfort & pain in
the first & second decade.
Gradual visual impairment
develops later.
SYMPTOMS: decreased to
normal visual acuity. Erosion
may cause ocular discomfort &
pain.
SIGNS: include confluent
irregular and coarse
geographic like opacities with
varying densities which
develop at the level of
Bowman layer & superficial
stroma, initially separated
from one another opacities
may extend to the limbus and
deeper stroma with time.
SIGNS: include symmetrical
sub epithelial reticular
opacities with peripheral
cornea typically uninvolved,
which can progress to deep
stromal layers & corneal
periphery.
SIGNS: Bowman layer
demonstrate variable pattern
of opacification from which
extend anteriorly into the
epithelium. The cornea
between the deposits is clear
refractile bodies are describe
in corneal stroma.

10.  1. TGFβ1 corneal dystrophies
a) Lattice corneal dystrophy
1. Classical lattice corneal dystrophy
Known as Biber-Haab-Dimmer dystrophy
Inheritance – autosomal dominant
Onset,course,symptoms: appears at the age of 2 years &
progressive, ocular discomfort ,pain occur sometimes as
early as first decade of life.
Progressive clouding at central cornea is apparent by age of
20 years, visual acuity is impaired.
Keretoplasty is required at age of 30-40 years.
Signs : Branching spider-like amyloid deposits forming an
irregular lattice work in the corneal stroma, sparing the
periphery. The number of lattice lines may differ between
the 2 eyes & dystrophy may be difficult to diagnose in
some younger patients.

11. 2. Lattice corneal dystrophy , Gelsolin Type (LCD2)
Known as familial amyloidosis of Finnish (FAF)
Inheritance : autosomal dominant
Onset & course : Occurs in third or forth decade of life, Slowly
progressive, majority of patients are good health even in
seventh decade of life.
Signs :Corneal sensitivity is reduced or absent.
Symptoms : Dry eye frequently, corneal erosion may occur in
late life. Visual acuity is normal because of the dystrophy
progress peripheral to central cornea.

12. b) Granular dystrophy
1.Granular corneal dystrophy, type 1 (classic) (GCDI)
Known as corneal dystrophy groenouw type 1
Inheritance : autosomal dominant
Onset & course :Occurs in childhood as soon as 2years of age,
Condition progressive.
Symptoms : Glare & photophobia,pain,watering,visual acuity
decrease with increase of age.
Signs :Milky granular hyaline deposits in anterior
stroma,opacification do not extend limbus.
2. Granular corneal dystrophy , Type 2 (Granular lattice) (GCD2)
Known as combined granular –lattice corneal
Inheritance : autosomal dominant
Onset & course : Occurs in first decade, condition is progressive.
Symptoms : Vision decrease with age, pain, ocular discomfort.
Signs : Superficial stromal tiny whitish dots, rings shaped snowflake
stromal opacities appearing between superficial stroma & mid
stroma & the next lesion, translucent flattened breadcrumb
opacities are seen in the final stages.

13. Star-shaped and breadcrumb-like opacities in the eyes of a patient with
Granular Corneal Dystrophy Type 2.

14. 2. Macular corneal dystrophy (MCD)
Known as Fehr spotted dystrophy
Onset & course : occurs in childhood & slowly progressive.
Inheritance :autosomal dominant
Symptoms : Photophobia & pain, visual impairment, occurs between 10 &
30 years of age.
Signs : corneal sensitivity reduced,ireggular whitish opacities develop letter.
Stromal opacities in the central cornea in Macular Corneal Dystrophy.

15. 3. Schnyder corneal dystrophy (SCD)
Known as hereditary crystalline stromal dystrophy of schnyder.
Inheritance : autosomal dominant
Onset & course : Appear at birth time or first decade of life,
slowly progressive & usually asymptomatic.
Symptoms : visual acuity decreases with age, scotopic vision is
good but photopic vision is decreased.
Signs : corneal sensation decrease with age.
A. Early opacity. B. Early opacity with crystals. C. Central ring shaped opacity

16. 4.Congenital stromal corneal dystrophy (CSCD)
Known as congenital hereditary stromal dystrophy
Inheritance : autosomal dominant
onset & Corse : occurs congenitally & non progressive or slowly
progressive.
Sign & symptoms : lesions are diffused, bilateral, corneal
clouding with flake-like, whitish stromal opacities throughout
the stroma, causing moderate to severe visual loss.
5. Flack corneal dystrophy (FCD)
Known as francois-neetens specked corneal dystrophy
Inheritance : autosomal dominant
Onset & course : occurs congenitally & is non progressive.
Signs & symptoms : asymptomatic condition, dandruff like
opacities or some times ring shaped opacities .

17. 6.Posterior amorphous corneal dystrophy (PACD)
Known as amorphous stromal dystrophy
Inheritance : autosomal dominant
Onset & course : occurs in first decade of life, congenital, non or
slowly progressive.
Signs & symptoms : gray white sheet-like opacities, mild decrease
in visual acuity.
7. Central cloudy dystrophy of Francois (CCDF)
Inheritance : unknown
Onset & course : occurs in first decade, non-progressive.
Sign & symptoms : mostly asymptomatic, rounded stromal opacities
that interiorly & peripherally & are surrounded by clear tissue.
8.Pre-descemet corneal dystrophy
Inheritance : unknown
Onsets & course : occurs after 30 years of age ,non-progressive.
Signs & symptoms: usually asymptomatic ,gray opacities.

18. FUCHS
ENDOTHELIAL
CORNEAL
DYSTROPHY
POSTERIOR
POLYMORPHOU
S CORNEAL
DYSTROPHY(PP
CD)
CONGENITAL
HEREDITARY
ENDOTHELIAL
DYTROPHY 1
(CHED 1)
CONGENITAL
HEREDITARY
ENDOTHELIAL
DYSTROPHY 2
X-LINKED
ENDOTHELIAL
CORNEAL
DYSTROPHY
Inheritance:
autosomal
dominant or
sporadic in
nature
Inheritance:
autosomal
dominant
Inheritance:
autosomal
dominant
Inheritance:
autosomal
recessive
Inheritance: x-
chromosomal
dominant
Onset &
course:
Slowly
progressive
bilateral
affecting
females more
than males
usually 5th &
6th decade of
life open angle
glaucoma is
common
association.
Onset &
course:
Occurs in early
childhood
slowly
progressive .
Onset &
course:
Occurs in 1st or
2nd yr of life.
Occasionally
congenital
progression of
corneal
clouding
occurs over 1
to 10 years.
Onset &
course:
Occurs
congenitally &
is relatively
stable
condition.
Onset &
course:
Occurs
congenitally
progressive
condition in
males & non
progressive
condition in
females.

19. FUCHS
ENDOTHELIAL
CORNEAL
DYSTROPHY
POSTERIOR
POLYMORPHOUS
CORNEAL
DYSTROPHY(PPC
D)
CONGENITAL
HEREDITARY
ENDOTHELIAL
DYTROPHY 1
(CHED 1)
CONGENITAL
HEREDITARY
ENDOTHELIAL
DYSTROPHY 2
X-LINKED
ENDOTHELIAL
CORNEAL
DYSTROPHY
Clinical features:
Stromal
oedima,pain,disc
omfortness,blurri
ng of vision,
decrease in visual
acuity, irritation.
Sign & symptoms
:deep corneal
lesions of various
shapes like
nodular,vesicular,
blister like lesion.
Varying gray
tissue at the level
of descemet
membrane.
Sign & symptoms
: endothelial
changes in the
form of moon
crater like
changes. Corneal
clouding ranging
from diffuse haze
to ground glass,
milky appearance
with occasional
focal gray sports
causing blurred
vision,photophob
ia,watering.
Thickening of
cornea (2-3
times
thickness).IOP
increased rarely.
Sign & symptoms
: condition is
more common &
severe than
(CHED 1),
Nystagmus.
Sign & symptoms
: male patients
have blurring of
vision associated
with corneal
clouding since
birth, milky
appearance
,nystagmus.
Female patients
are
asymptomatic,
moon crater like
change in both.

20.  COMPREHENSIVE OPTHALMOLOGY – A.K.
KHURANA Page no.124-131.
 ESSENTIALS OF LOWVISION PRACTICE –
RICHARD L. BRILLIANT Page no.87,88.
 http://www.slideshare.net/avanisingla/corne
al-dystrophies
 http://www.reviewofcontactlenses.com/conte
nt/d/disease/c/21310