corneal dystrophy and degeneration slides

1. CORNEAL DYSTROPHY AND
DEGENERATION
DR NIRAV DADIA
FELLOW
NANDADEEP

2. CORNEAL ANATOMY
• Tear film 7-11 um
• Epithelium 50 um
• Epithelial BM <128 nm
• Bowman 8-14 um
• Stroma 500 um
• Descemet 5-10 um
• Endothelium 5 um

4. DYSTROPHY
Definition :
• Greek Dys – wrong; Trophe – nourishment
• Bilateral
• Symmetric
• Inherited condition
• Little or no relationship to environmental or systemic
factors
• Begin in early life but may not become clinically
apparent until later
• Slowly progressive
• Absence of inflammation

5. SLIT-LAMP EVALUATION of CD
Precise rules:
• Examination of both eyes
• Examination with dilated pupils
– Direct and Retro illumination
• Topographical determination of lesion
– Superficial
– Stromal
– Endothelial
– Combination
• Characteristic opacity pattern in direct illumination
• Characteristic opacity units in direct and indirect illumination
• Pseudoinflammatory signs

6. CLASSIFICATION OF CD
Anatomic classification:
EPITHELIAL and its Basement Membrane
DYSTROPHY
BOWMANN’S DYSTROPHY
STROMAL DYSTROPHY
DESCEMET’S MEMBRANE and ENDOTHELIAL
DYSTROPHY

7. EPITHELIAL
DYSTROPHY

8. EPITHELIAL BASEMENT MEMBRANE DYSTROPHY
INHERITANCE- NO Inheritance
Onset,course,symptom:
• 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
PATHOLOGY: point mutations in the TGFBI gene encoding keratoepithelin have been
identified
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.
 BLEB PATTERN: 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.

10. TREATMENT
• Débridement .
• Superficial keratectomy - DALK
• Lubricants, hypertonic saline
• Bandage soft Contact Lens.
• Anterior stromal reinforcement or puncture.
• Phototherapeutic keratectomy (PTK)

11. EPITHELIAL RECURRENT EROSION DYSTROPHY
Inheritance: Autosomal Dominant
Onset,course,symptom:
- 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.
- precipitated by minimal trauma & are in the form of attack of
redness,photophobia, ocular pain.
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.
SUBEPITHELIAL HAZE OR BLEB: may be seen between attacks
CENTARL SUBEPITHELIAL CORNEAL OPACITIES: may appear as early
as 7 yrs of age.

13. TREATMENT
• Artificial tears
• Oral tetracycline antibiotics
• Topical corticosteroid
• phototherapeutic keratectomy.

14. SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY
• Inheritance: Autosomal Dominant
Onset,course,symptom:
• 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.
PATHOLOGY:
Anterior to Bowman layer, deposits of glycosaminoglycan were detected
and identified as chondroitin-4-sulfate and dermatan sulfate
SIGNS :
It include bilateral sub epithelial opacities & has most dense centrally,
involving the entire cornea.

16. MEESMAN CORNEAL DYSTROPHY
Inheritance: Autosomal dominant
Onset,course,symptom:
• 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.
• PATHOLOGY: It has been associated with genes KRT3 and KRT12 located on chromosome 12
and 17 respectively.[4]
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 .

18. TREATMENT
• Treatment is usually not needed unless a person is experiencing
symptoms.
• lubricating eye drops.
• severe cases, therapeutic contact lenses or cycloplegic eye drops
• Hypertonic saline may be given if symptoms get worse when a
person wakes up.
• Surgical procedures are sometimes tried when these treatments do
not help, and may include epithelial debridement, or keratectomy.
There is a high risk of recurrence with these procedures.
• Researchers are also evaluating a form of gene
therapy called RNA interference (RNAi) which is also called
therapeutic siRNA.

19. LISCH EPITHELIAL CORNEAL DYSTROPHY
• Inheritance: X-linked chromosomal dominant
Onset,course,symptom:
 Occurs in childhood with slow progression of opacities.
 Asymptomatic blurring of vision occurs if pupillary zone is
involved.
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.

21. TREATMENT
• Epithelial debridement (superficial
keratectomy)
• Typically recurs

22. Gelatinous Drop-like Dystrophy
• Inheritance: Autosomal Recessive
Onset,course,symptom:
occurs in first decade of life & is progressive.
Significant decrease in vision ,photophobia, irritation, redness,
tearing.
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 is frequently seen.

24. BOWMANN’S DYSTROPHY

25. REIS-BUCKLERS CORNEAL
DYTROPHIES
• INHERITANCE: autosomal dominant
ONSET,COURSE:
• also known as dystrophy of bowman layer type 1.
• occurs in childhood & cause slowly progressive deterioration of vision.
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.
• 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.

27. • Treatment may include a complete or
partial corneal transplant, or photorefractive
keratectomy

28. THIEL-BEHNKE CORNEAL DYSTROPHY
• INHERITANCE: autosomal dominant
• ONSET,COURSE:
• Is also known as dystrophy of Bowman layer type 2
• Occurs in childhood & slowly progressive deterioration of vision
from increase corneal opacification.
• SYMPTOMS:
• erosion cause ocular discomfort & pain in the first & second
decade.
• Gradual visual impairment develops later.
• SIGNS: HONEYCOMB SHAPED
• include symmetrical sub epithelial reticular opacities with
peripheral cornea typically uninvolved, which can progress to deep
stromal layers & corneal periphery.

30. GRAYSON-WILBRANDT CORNEAL DYSTROPHY
• INHERITANCE: autosomal dominant
• ONSET,COURSE: occurs during first to second decade of life &
condition is progressive.
• SYMPTOMS: decreased to normal visual acuity. Erosion may cause
ocular discomfort & pain.
• 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.

32. STROMAL DYSTROPHY

33. a) Lattice corneal dystrophy
1. Classical lattice corneal dystrophy
Known as Biber-Haab-Dimmer dystrophy
• Inheritance – autosomal dominant
• PATHOLOGY: Lattice dystrophy gets its name from an accumulation of amyloid deposits, or
abnormal protein fibers, throughout the middle and anterior stroma. It is caused by
mutations in TGFBI gene encoding keratoepithelin
• 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.
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.

35. • 2. Lattice corneal dystrophy , Gelsolin Type (LCD2)
Known as familial amyloidosis of Finnish (FAF)
• Inheritance : autosomal dominant
• PATHOLOGY:
type II or Finnish type amyloidosis: associated with manifestations of systemic
amyloidosis due to accumulation of gelsolin.[4]Associated conditions may include cutis
laxa[5] and ataxia.[6]
• Onset & course :
• Occurs in third or forth decade of life, Slowly progressive, majority of patients are good
health even in seventh decade of life
• Symptoms :
• Dry eye frequently, corneal erosion may occur in late life.
• Visual acuity is normal because of the dystrophy progress peripheral to central cornea.
• Signs : Corneal sensitivity is reduced or absent.

37. TREATMENT
• punctal plugs (both upper and lower)
• Keretoplasty is required at age of 30-40 years.
• Phototherapeutic keratectomy (PTK) using
[Excimer laser] can restore and preserve useful
visual function for a significant period of time in
patients with anterior corneal dystrophies.[3]

38. 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 2 years 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

39. • . 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.

41. • 2. Macular corneal dystrophy (MCD)
Known as Fehr spotted dystrophy
Inheritance: autosomal dominant
Onset & course :
occurs in childhood & slowly progressive.
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.

43. 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.
PATHOLOGY: Cells in the cornea accumulate cholesterol and phosopholipid
deposits leading to the opacity
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

45. • 4.Congenital stromal corneal dystrophy (CSCD)
Known as congenital hereditary stromal dystrophy
Inheritance : autosomal dominant
Onset & Course : 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 .

46. • 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.

47. • 8.Pre-descemet corneal dystrophy
Inheritance : unknown
Onsets & course :
occurs after 30 years of age ,non-progressive.
Signs & symptoms:
usually asymptomatic ,gray opacities

48. DESCEMET’S MEMBRANE AND
ENDOTHELIUM

49. FUCHS ENDOTHELIAL CORNEAL
DYSTROPHY
• Inheritance: autosomal dominant or sporadic in
nature
• Onset & course: Slowly progressive bilateral affecting
females more than males usually 5th & 6th decade of
life open angle glaucoma is common association.
•
• Clinical features:
• Stromal oedema, pain, disc comfortness,blurring of
vision, decrease in visual acuity, irritation.

51. TREATMENT
• Topical hypertonic saline,
• Therapeutic soft contact lenses.
DSAEK
• corneal transplantation.
DMEK
Artificial corneas (keratoprosthesis)
Genetic modification

52. • Surgery where the central diseased
endothelium is stripped off but not replaced
with donor tissue, with subsequent Rho-
Associated Kinase (ROCK) inhibition of
endothelial cell division may offer a viable
medical treatment.

53. POSTERIOR POLYMORPHOU S
CORNEAL DYSTROPHY(PP CD)
• Inheritance: autosomal dominant
• Onset & course: Occurs in early childhood slowly progressive .
• PATHOLOGY :
• Characterised by changes in Descemet's membrane and endothelial layer.
• PPCD type 2 is linked to the mutations in COL8A2
• Sign & symptoms :
• Deep corneal lesions of various shapes like nodular, vesicular, blister like
lesion.
• Varying gray tissue at the level of descemet membrane.

55. CONGENITAL HEREDITARY
ENDOTHELIAL DYTROPHY 1
• Inheritance: autosomal dominant
• Onset & course:
Occurs in 1st or 2nd yr of life. Occasionally congenital progression of
corneal clouding occurs over 1 to 10 years.
• 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,
photophobia, watering.
• Thickening of cornea (2-3 times thickness).IOP increased rarely.

56. CONGENITAL HEREDITARY
ENDOTHELIAL DYSTROPHY 2
• Inheritance: autosomal recessive
• Onset & course:
• Occurs congenitally & is relatively stable
condition
• Sign & symptoms :
Condition is more common & severe than
(CHED 1), Nystagmus present.

58. X-LINKED ENDOTHELIAL CORNEAL
DYSTROPHY
• Inheritance: x- chromosomal dominant
• Onset & course:
• Occurs congenitally progressive condition in males & non
progressive condition in females.
• 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.

60. CORNEAL
DEGENERATION

61. • Definition: Corneal degeneration refers to the
conditions in which normal cells undergo
some degenerative changes under the
influence of age or some pathological
condition.

62. • As being:
• Non - Hereditary and Non - Familial
• Usually Unilateral
• Mostly Peripheral
• More frequently seen
• Vascularity and Inflammation is seen.

63. CORNEAL
DEGERATION
DEPENDING
UPON
ETIOLOGY
DEPENDING
UPON LOCATION
AXIAL
PERIPHERAL
PATHOLOGICAL
DEGENERATION
AGE-
RELATED

64. Depending upon Location
I. Axial Corneal Degenerations
a) Fatty Degenerations
b) Hyaline Degenerations
c) Amyloidosis
d) Calcific Degenerations (Band Keratopathy)
e) Salzmann’s Nodular Degeneration

65. II. Peripheral Degenerations
a) Arcus Senilis
b) Vogt’s White Limbal Girdle
c) Hassall – Henle Bodies
d) Terriens’s Marginal Degeneration
f) Pellucid Marginal Degeneration
g) Furrow Degeneration (Senile Marginal
Degeneration)

66. Depending upon Etiology
I.Age Related Degenerations
a) Arcus Senilis
b) Vogts White Limbal Girdle
c) Hassal - Henle Bodies
d) Mosaic Degenerations

67. II. Pathological Degenerations:
a) Fatty Degeneration
b) Amyloidosis
c) Calcific Degenerations
d) Salzmann’s Nodular Degeneration
e) Terrien’s Marginal Degeneration
f) Pellucid Marginal Degeneration
g) Furrow Degenerations
h) Spheroidal Degeneration

68. ARCUS SENILIS
• It is the annular lipid infiltrations of the
corneal periphery seen in the elderly.
• Age – related degeneration occurring
bilaterally in 60% of people aged 40 to 60
years.
• And almost all individuals aged over 80 years.

69. • Commences as a crescentric grey or white arc in
the superior and inferior quadrant and progresses
to form a ring around the cornea,
• 1mm wide ring
• Lucid interval of Vogt’s – the clear zone which
separates the ring of opacity from the limbus.
• Peripheral border is sharp and inner border is
diffuse.
• Rarely double ring of Arcus is seen.

71. • It is not of importance, as it does not decrease
vision or the vitality of the cornea.
• Unrelated to metabolic conditions such as
hypercholesterolemia.

72. ARCUS JUVENILIS
• Similar to Arcus Senilis but occurs in
individuals aged less than 40 years.
• Rare condition
• Associated with Hypercholesterolemia
• Diagnostic feature: Presence of a line of clear
cornea between opacity and limbus.

73. VOGT’S WHITE LIMBAL GIRDLE
• Age related which appears as a bilateral chalky
white opacities in the inter - palpebral area
both nasally and temporally.
• Opacity in the Bowman's Membrane.

75. Hassal - Henle Bodies
• Drop shaped excrescences of hyaline material
projecting into the anterior chamber around the
corneal periphery
• Arise from Descemet’s membrane
• Commonest senile change.
• In pathological changes, they become larger and
invade the central area and the conditions is
called ‘Corneal Guttata’

77. • THANK YOU