This document discusses various types of corneal dystrophies including: 1. Epithelial basement membrane dystrophy which presents as dot-like opacities and can cause recurrent erosion. 2. Fuchs' endothelial dystrophy which typically affects females over 50 and is characterized by guttata and progressive edema. 3. Granular dystrophy which presents as milky deposits in the anterior stroma. 4. Keratoconus which presents as a conical protrusion of the cornea causing irregular astigmatism. 5. Posterior polymorphous dystrophy which has variable lesions at the level of Descemet's membrane. It provides descriptions, classifications, inheritance patterns

1. Dr. Atul Kumar Anand
Senior Resident
AIIMS Patna

3. 3
defined as inherited disorders characterized by
development of corneal haze in otherwise
normal eyes that are free from inflammation or
vascularization, Not associated with systemic
disease & occur bilaterally.
Usually manifesting in 1st or 2nd decade or later
in life, occasionally at birth
Corneal dystrophy means, the cells have some
inborn defects due to which pathological
changes may occur with passage of time. It is
different than corneal degeneration.

4.  Refer to a group of inherited corneal diseases
that are usually bilateral, symmetric, slowly
progressive and not related to environmental or
systemic factors
 Hereditary pattern is not present in most patients
with epithelial basement membrane dystrophy
(EBMD)
 Unilateral corneal changes may be found in
some patients with posterior polymorphous
corneal dystrophy (PPCD)
 Systemic changes are found in macular
dystrophy, has autosomal recessive inheritance.

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 Corneal dystrophies are classified as follows:-
 According to anatomic site
1)Anterior dystrophies
2)Stromal dystrophies
3)Posterior dystrophies
International committee for classification of
Corneal dystrophies (IC3D) – created in 2005,
published in 2008

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Also called superficial dystrophies is again
divided into following types which involves
primarily epithelium and Bowman’s
membrane.
I)Epithelial basement membrane
dystrophy{EBMD}
II)Reis-Buckler’s dystrophy
III)Meesman’s corneal dystrophy{MECD}
IV)Recurrent corneal erosion syndrome
V)Stocker-Holt dystrophy

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Also known as Cogan’s microcystic dystrophy
and map-dot finger print dystrophy, it is the
most common corneal dystrophy.
involve corneal epithelium, present as dot like
or linear finger print like opacities.
Most cases are asymptomatic some develop
recurrent corneal erosion and have severe
pain, lacrimation & blurring of vision

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Epithelial Basement Membrane
Dystrophy

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Epithelial Basement Membrane
Dystrophy

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It consists of patching with plain ointment for
1-2 days for recurrent corneal erosion.

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Also known as ring shaped dystrophy(due to
typical lesion) primarily involving the
Bowman’s membrane, is a progressive
corneal dystrophy occurring in childhood.
It has autosomal dominant inheritance.
Most patients have recurrent corneal
erosions that usually result in diffuse anterior
scarring.

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Fig:Reis-Buckler Dystrophy

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Fig:Reis-Buckler Dystrophy

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Patching with plain ointment or antibiotic is
done for recurrent corneal erosion in early
case otherwise lamellar or penetrating
keratoplasty is done ultimately.

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Also known as Juvenile epithelial dystrophy
is characterized by tiny epithelial cysts.
It occurs in early life and has autosomal
dominant inheritance.
 Normally it is asymptomatic and no
treatment is required.

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Fig:Meesman’s Dystrophy

19. 19
Fig: Meesman’s Dystrophy

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It is a type of dystrophy that typically follows
trauma to cornea by fingernail, pencil or any
other sharp edge.
The underlying etiology is lack of basement
membrane & hemidesmosomes in the area of
involvement
The symptoms include photophobia,
lacrimation, pain and blurring of vision on
awakening in the morning.

21. 21
Fig : Recurrent Corneal Erosion Syndrome

22. 22
Fig : Recurrent Corneal Erosion Syndrome

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It consists of patching with plain ointment
for 1-2 days.
Hypertonic saline drops or ointment is also
given to prevent erosion by reducing
epithelial edema.
Severe cases are treated by scraping the
whole epithelium followed by pressure
patching.

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It is characterized by presence of grey white
dots and serpiginious line between epithelium
and Bowman’s layer.
The inheritance is autosomal dominant.
The condition may occur at any age from 1-
7 yrs.
Usually it is asymptomatic.

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It is again divided into following types
I)Granular(Groenouw’s type I)dystrophy
II)Lattice dystrophy
III)Macular(Groenouw’s type II)dystrophy
IV)Crystalline( Schnyder’s) dystrophy

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It is an autosomal dominant dystrophy
characterized by milky-granular hyaline
deposits in the anterior stroma causing
opacities, intervening cornea is clear.
The condition developes in first decade of life
and is slowly progressive and usually
asymptomatic.
Occassionally it may require keratoplasty in
cases of severe impairment of VA.

27. 27
Fig:Granular Dystrophy

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Fig: Granular Dystrophy

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Fig:Granular Dystrophy

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Also known as ‘Biber-Haab-Dimmer
dystrophy’ , has autosomal dominant
inheritance, characterized by branching spider
like amyloid deposits forming an irregular
lattice work in the corneal stroma.
It appears at age of 2 yr but occurrence of
recurrent corneal erosion and progressive
clouding of central cornea is apparent by 20
yrs causing impaired VA, treatment PK

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Fig: Lattice Dystrophy

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Fig: Lattice Dystrophy

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It is an autosomal recessive dystrophy
characterized by appearrance of dense grey
opacity in the central cornea.
It occurs due to accummulation of
mucopolysachharides owing to a local
enzyme deficiency.
It occurs in early childhood(5-10yrs) and
leads to marked diminution of vision requiring
PK.

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Fig: Macular Dystrophy

35. 35
Fig: Macular Dystrophy

36. 36
Fig: Macular Dystrophy

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It is an autosomal dominant dystrophy
characterized by a round ring shaped
central corneal stromal opacity due to
deposition of fine needle-like cholesterol
crystals which may be white to yellow or
polychromatic in colour.
It appears at early infancy, slowly progressive
and usually asymptomatic.

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It is again divided into following types which
affect mainly corneal endothelium and
Descemet’s membrane.
I)Corneal Guttata
II)Fuch’s epithelial-endothelial dystrophy
III)Posterior polymorphous dystrophy
IV)Congenital hereditary endothelial
dystrophy(CHED)

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The condition is characterized by drop like
spots involving the entire posterior surface of
Descemet’s membrane.
The condition usually occurs in old age and is
usually asymptomatic.
It is more common in females than males.
It may occur as part of Fuch’s dystrophy or
independently.

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Fig: Corneal Guttata

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Fig: Corneal Guttata

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Fuchs dystrophy is frequently seen as a
slowly progressive bilateral condition
affecting females more than males usually
between fifth and seventh decade of life.
Its main association is POAG.

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Fig: Fuch’s Dystrophy

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Fig: Fuch’s Dystrophy

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The clinical features of Fuchs dystrophy can
be divided into following four stages:-
1)Stage of cornea guttata
2)Oedematous stage or stage of
endothelial decompensation
3)Stage of bullous keratopathy
4)Stage of scarring

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It is characterized by the presence of Hasal
Henle type of oily excrescences in the central
part of cornea give rise to beaten-metal
appearance and this stage is normally
asymptomatic.

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It is characterized by the occurrence of early
stromal oedema and epithelial dystrophy
causing blurring of vision.

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This stage follows long-standing stromal
oedema and is characterized by marked
epithelial oedema with formation of bullae,
which when rupture cause pain, discomfort
and irritation with associated decreased VA.

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In this stage epithelial bullae are replaced by
scar tissue and cornea becomes opaque and
vascularized.
The condition may sometimes be
complicated by occurrence of secondary
infection or glaucoma.

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1)In early oedematous stage use of 5%
sodium chloride(hypertonic saline)is used.
2)Bandage soft contact lenses provide relief of
some symptom in bullous keratopathy stage.
3)Penetrating keratoplasty is the treatment for
marked visual acuity reduction.

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It is dominantly inherited dystrophy of
endothelium and Descemet’s membrane.
It is characterized by lesions with variable
appearance such as vesicles, curvilinear
lines or geographical opacities at the level of
Descemet’s membrane.
It is normally asymptomatic, very slow
progressive. Sometimes oedema occur,
requiring keratoplasty.

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Posterior Polymorphous Dystrophy

53. 53
Posterior Polymorphous Dystrophy

54. 54
Posterior Polymorphous Dystrophy :Topography

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In this there is scanty or absence of
endothelial cells and thickened Descemet’s
membrane.
The endothelial deficiency results in diffuse
milky or ground glass opacification and
marked thickening of corneal stroma.
It is inherited both dominantly and
recessively.

56. 56
Fig:Congenital Hereditary Endothelial
Dystrophy(CHED)

57. 57
Fig: CHED

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This is again divided into various types:-
I)Keratoconus
II)Keratoglobus
III)Keratoconus posterior

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Keratoconus(conical cornea) is a non-
inflammatory bilateral(85%) ectatic condition
of cornea in its axial part.
It usually starts at puberty and progresses
slowly.

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Fig: Keratoconus

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Fig:Corneal Topography of Keratoconus

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It is not clear, various theories to label as
developmental condition, degenerative
condition, hereditary dystrophy and endocrine
anomaly.
The main pathological changes are thinning and
ectasia which occurs as a result of defective
synthesis of mucopolysachharides and collagen
tissue.
May occur following trauma(Unilateral), in VKC
due to constant rubbing

65. Patients present with a defective vision due to
progressive myopia & irregular astigmatism
despite of full correction
Following signs are observed:-
Placido disc examination shows irregularity of
the circles.
 Keratometry depicts extreme misalignment of
mires.
 Slit lamp examination may show thinning and
ectasia of central cornea, opacity at the apex
and Fleischer’s ring at the base of cone, folds
in Descemet’s and Bowman’s membranes.

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On retinoscopy a scissor or yawning reflex and
high oblique or irregular astigmatism is found.
On distant direct ophthalmoscopy an annular
dark shadow (due to total internal reflection)
is seen which separates the central and
peripheral areas of cornea(oil droplet reflex)
Munson’s sign:-localised bulging of lower lid
when patient looks down in late stage.

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Keratoconus may be complicated by Acute
Hydrops due to rupture of Descemet’s
membrane. The condition is characterised by
sudden development of corneal oedema
associated with marked defective vision, pain,
photophobia and lacrimation.

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Keratoconus may be associated with some
other ocular conditions(ectopia lentis,
congenital cataract, aniridia, retinitis
pigmentosa & VKC) and with systemic
conditions(Marfan’s syndrome, atopy, Down’s
syndrome, Ehlers-Danlos syndrome
osteogenesis imperfecta & mitral valve
prolapse)

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Spectacles & Contact lenses(RGP) improve
vision in early cases
Later penetrating keratoplasty is required.
Itacs:- intracorneal rings
Collagen cross-linking:- newer modality, use
of riboflavin(0.1%) drop & UVA radiation after
removing corneal epithelium, BCL applied for
epithelium healing.

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It is a bilateral and hereditary familial congenital
disorder characterized by thinning and
hemispherical protusion of the entire cornea.
It is non progressive and inherited as an
autosomal recessive trait.

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Fig: Keratoglobus

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It must be differentiated from congenital
buphthalmos, where increased corneal size is
assoacited with raised intraocular pressure,
angle anomaly, and/or cupping of optic disc

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In this there is slight cone like bulging of the
posterior surface of the cornea.
It is non progressive and is extremely rare
condition.

81. Also an age related changes
Frequent in elderly
B/L,chalky white opacities in interpalpebral
area both nasaly and temporally
May or may not be a clear area
between opacity and limbus

82. Drop like hyaline material projecting into
anterior chamber around corneal periphery
Arise from descemet’s membrane
In pathological condition become larger
and invade central area , condition called
CORNEA GUTTATA

86. Characterised by bluish white, avascular
nodule appearing in superficial layer of
stroma & Bowman’s membrane
Occurs in person who have suffered
previous corneal disease such as,recurrent
phlyctenular keratitis , trachoma
Mainly in female
May be treated by lamellar keratoplasty

87. Non ulcerative thinning of marginal cornea
sparing the limbus
Mainly involes superior cornea, frequently in
man
Usually asymptomatic but can lead to irritation
& defective vision (astigmatism)
Lesion progresses very slowly with thinning
and superficial vascularisation
Perforation can occur with minor trauma

88. Corneal thinning involving the periphery of
lower cornea
Induces marked astigmatism which is
corrected by scleral type contact lenses