2. Case 1
Age: 17 yrs
Sex: Female
Resident of Panvel
Date Of Visit: 15/11/2015
3. History
Left eye – pricking sensation – 1 ½ years
No H/O diminution of vision
No H/O photophobia
No H/O redness
No H/O glasses
No H/O any systemic illness
Drug history-Nil
4. Examination
General Examination : WNL
Ocular Examination :
Visual Acuity RIGHT EYE LEFT EYE
Unaided 6/6 (B) N6 6/6(B) N6
Distance +0.50/-0.50*80 6/6 +0.25/-0.75*5 6/6
Near N6 N6
5. Ocular Examination
RIGHT EYE LEFT EYE
Lids and adnexa WNL WNL
Conjunctiva Papillae Papillae
Cornea Described in picture Describe in picture
Sclera Normal Normal
AC Well formed, quiet Well formed, quiet
Iris Normal normal
Pupil 3 mm ,RRR 3mm,RRR
Lens Clear Clear
Fundus WNL WNL
8. History
Both eyes - Gradual diminution of vision since 5 years
Both eyes – Pain and pricking sensation
No H/O redness
No H/O watering in both eyes
No H/O glasses
No H/O trauma
9. Examination
Visual acuity Right eye Left eye
Unaided FC 1 ½ meter FC 1 ½ meter
BCVA +3.00/-2.0 *170°6/36 +2.0/-2.0*110°6/36
Near N18 N18
10. Ocular examination
Right eye Left eye
Lids and Adnexa Normal Normal
Conjunctiva Normal Normal
Cornea Amorphous fuzzy lesion
with haze of intervening
cornea
Amorphous fuzzy lesion
with haze of intervening
cornea
Sclera Normal Normal
Anterior chamber Well formed , Quiet Well formed , Quiet
Iris NCP NCP
Pupil 3mm reacting to light 3mm reacting to light
Lens Clear Clear
Fundus Hazy view Hazy view
13. History
Both Eyes - diminition of vision since 1-2 years
Both Eyes - pricking sensation sometimes since 1 year
H/o Corneal Laser done 10 years back
14. Examination
Right eye Left eye
Unaided FC 2 ½ meter FC 2 ½ meter
BCVA NIG FC 2.5 meter NIG FC 2.5 meter
Near +1.0 - N12 +1.0 - N12
15. Ocular examination
Right eye Left eye
Lids and Adnexa Normal Normal
Conjunctiva Normal Normal
Cornea As shown in figure As shown in figure
Sclera Normal Normal
Anterior chamber Deep and Quiet Deep and Quiet
Iris NCP NCP
Pupil RRTL RRTL
Lens Clear Clear
Fundus Normal Normal
17. SUMMARY
Corneal Opacities
All cases are bilateral symmetrical,
All have central corneal opacity
No signs of inflammation
No vascularisation
CORNEAL DYSTROPHY
18. INTRODUCTION
A Corneal Dystrophy is defined as a corneal opacity or
alteration , which is most often bilateral and
progressive, occurs after birth, and is not
inflammatory .
23. Granular Dystrophy
Autosomal Dominant
Bilaterally symmetric affecting central cornea.
Central and peripheral cornea clear
Accumulation of phospholipid material
Characterized by discrete white dense round to oval
granular opacities lie in the relatively clear stroma
forming variety of patterns
Patterns - Arcuate chains
- straight lines
24. Staining –bright red- Masson’s trichome
weak stain -PAS
peripheral stain with congo red
Clinical features - vision not affected early
- photophobia
- recurrent erosions
ADVICE – Glasses
Cromal Forte eye drop QID
25. Macular Dystrophy
Autosomal recessive
Often occurs in pedigrees with consanguility
Accumulation of glyocosoaminoglycans intra and
extra cellularly
Diffuse fine superficial clouding extending to the
periphery
Involvement of central and peripheral cornea with all
layers of cornea
Often associated with thin cornea
26. Staining with Alcian blue, colloidal iron,
metachromatic dyes and PAS
Clinical features – Progressive vision loss with irritation
Photophobia
2nd case had similar clinical features and was hence
advised,
ADVICE - Phototherapeutic Keratectomy
27. LATTICE DYSTROPHY
Autosomal dominant
Accumulation of amyloid in the stroma often
arranged in the branching pattern
Possible source for amyloid- leakage from serum,
extracellular breakdown of corneal collagen and
localized intracellular production
Clinical features – recurrent erosions
- decrease in visual acuity
Stains with – orange red with congo red
- PAS, masson’s trichome, thioflavin T
29. Avellino Dystrophy
Lattice deposits with granular deposits
The disease causing gene of lattice type 1, granular
dystrophy and Avellino dystrophy have been all
mapped to chromosome 5 q
Main 3 clinical signs –
1. Anterior stromal discrete gray white granular
deposits
2. Mid to posterior stromal lattice lesions
3. Anterior stromal haze
31. Corneal Degenerations
Dystrophy Degeneration
1 Bilateral and symmetric Unilateral or bilateral
2 Heriditary Sporadic
3 Appears early in life Appears late in life and considered as
aging changes
4 Non – inflammatory Inflammatory
5 Avascular and located centrally Often eccentric and peripheral and
are related to vascularity
6 Usually painless except in
recurrent epithelial erosions
Mostly associated with pain
7 Systemic associations are rare Local and systemic conditions are
common association
Corneal Degenerations can occur from changes occurring from aging, or may
follow an environmental insult such as exposure to ultraviolet light or
secondary to a prior corneal disorder.
32. Drawbacks of anatomical
classification
Based only on the pathological and clinical findings
Disputes were seen for clinical diagnosis
No correct diagnosis could be made because some
dystrophies would involve multiple layers of cornea
and not just a single layer
33. AIM- To develop a new classification system for the
corneal dystrophies , integrating up to –date information
on phenotype description, pathologic examination, and
genetic analysis.
34. IC3D CLASSIFICATION
Category 1 – the gene has been mapped and identified
and specific mutations are known
Category 2 –specific chromosomal loci are mapped ,
but genes remain to be identified
Category 3 – chromosomal loci not mapped
Category 4 – suspected new corneal dystrophies
35. Inheritance pattern : Recessive and
X linked
MODE OF
INHERITANCE
IC3D
CATEGORY
Gelatinous drop like corneal opacity AR 1
Macular corneal dystrophy AR 1
Congenital endothelial dystrophy type 2 AR 2
Lisch epithelial dystrophy XR 2
X linked corneal endothelium dystrophy XR 2
36. Inheritance pattern :Dominant
MODE OF
INHERITANCE
IC3D CATEGORY
Meesman’s corneal dystrophy AD 1
Stocker Holt dystrophy AD 1
Reis – Buckler dystrophy AD 1
Thiel – Behnke dystrophy AD 5q31 1
Thiel – Behnke dystrophy AD 10q23-q24 1
Subepithelial mucinous corneal
dystrophy
AD 4
37. MODE OF
INHERITANCE
IC3D
CATEGORY
Epithelial recurrent erosion dystrophy AD 2
Granular corneal dystrophy 1 AD 1
Avellino dystrophy AD 1
Lattice corneal dystrophy 1 AD 1
Lattice Corneal dystrophy 2 AD 1
Fleck dystrophy AD 1
Schnyder corneal dystrophy AD 1
Posterior amorphous corneal dystrophy AD 3
Congenital stromal dystrophy AD 1
Inheritance pattern: Dominant
38. MODE OF
INHERITANCE
IC3D
CATEGORY
Fuchs dystrophy (early onset) AD Ip34.3 1
Fuchs dystrophy(late onset) AD 13pTel-13q12.13 2
Fuchs dystrophy (late onset) AD 18q21.2-q21.32 2
Fuchs dystrophy (late onset) ? 20p13-p12 1
Posterior polymorphous dystrophy type 1 AD 2
Posterior polymorphous dystrophy type 2 AD 1
Posterior polymorphous dystrophy type 3 AD 1
Congenital endothelial dystrophy type 1 AD 2
Inheritance pattern : Dominant
40. TAKE HOME MESSAGE
Corneal dystrophy is a wide spectrum of diseases
with overlapping clinical presentations
Morphologic features may not be able to differentiate
one from another
Patients may be symptom free or may have recurrent
corneal erosions or diminution of vision
Treatment will be tailored according to the patients
requirement
