corneal dystrophy

1. DR. MD MAHFUZUL ALAM

2. Chairman
Professor Dr. Md. Abdul Quader
Department of Cornea
Moderator
Dr. Tarzeen Khadiza
Assistant professor
Department of Cornea

3. Introduction
 Hereditary
 Progressive
 Bilateral
 Symmetrical
 Non-inflammatory
 Non-vascularized
 Affecting particular layer of cornea
Corneal Dystrophies are

4. Classifications (Anatomical)
“ The International Committee for the Classification of Corneal Dystrophies (IC3D)
Classification of the Corneal Dystophies ” December 2008

5. ❑ Epithelial Dystrophies
❑ Bowman layer Dystrophies
❑ Stromal Dystrophies
❑ Descemet membrane and Endothelial Dystrophies

6. Epithelial dystrophies
• Cogan (epithelial basement membrane) dystrophy
• Meesmann epithelial dystrophy
• Lisch epithelial corneal dystrophy
• Subepithelial mucinous corneal dystrophy and
• Gelatinous drop-like corneal dystrophy

7. • Reis- Bucklers dystrophy
• Thiel–Behnke corneal dystrophy
Bowman Layer Dystrophies

8. Stromal dystrophies
• Lattice corneal dystrophy,
 Classic Lattice corneal dystrophy(LCD1)
 Lattice corneal dystrophy, gelsolin type(LCD2)
• Granular corneal dystrophy,
 Granular corneal dystrophy, type 1 (classic)
 Granular corneal dystrophy, type 2

9. Macular corneal dystrophy
Schnyder (crystalline) corneal dystrophy
François central cloudy dystrophy
Others-
Congenital stromal corneal dystrophy,
Posterior amorphous corneal dystrophy,
Pre-Descemet corneal dystrophy

10. Descemet Membrane and
Endothelial Dystrophies
• Fuchs endothelial dystrophy
• Posterior polymorphous corneal dystrophy
• Congenital hereditary endothelial dystrophy

11. Fuchs Endothelial Corneal Dystrophy
Bilateral accelerated endothelial cell loss
• decreased visual acuity in the morning
that initially improves throughout the day
• diffuse corneal opacification,
• stromal edema.
Common in women
Inheritance : Most are sporadic, with occasional AD
chromosome 18 , gene: COL8A2
Cornea guttata

12. Variants
Early onset Late onset
Age : 1st decade
Mutation : COL8A2
Age : > 50 𝑦𝑒𝑎𝑟𝑠
Mutation : unknown
Ref - IC3D: Classifying Corneal Dystrophies & AAO

13. Mechanism

14. Normal endotelium
Genetic
mutation
Primary endothelial
cell dysfunction
Stromal oedema
excess fluid migrates to
epithelium and collects in bullae
bullae rupture
irritation of the cornea
can cause scar tissue
and blood vessel formation

15. •Photophobia
•Intermittent reduced vision, worse upon awakening
improves throughout the day
•Severe pain due to recurrent erosions from ruptured bullae
•Foreign body sensation
•Epiphora
•Progressive vision loss
Symptoms

16. Stages of Fuchs Endothelial
Dystrophy

17. Stage Description
1
Central, nonconfluent corneal guttae
Typically asymptomatic
2
Corneal guttae coalesce
Endothelial cell thinning and enlargement
Loss of hexagonal shape
Painless decrease in vision and glare
3
Stromal edema and/or bullae
Ruptured bullae: painful and can lead to scarring and infection
4
Cornea: densely opaque and vascularized
Sub-epithelial fibrosis
No oedema
Corneal
oedema
Bullous
keratopathy
Corneal scar

18. cornea guttata ‘beaten-bronze’ endothelium
Bullous keratopathy
Sub-epithelial bullae

19. Evaluation
•Slit-lamp examination.
o Guttae are best seen with retro-illumination or specular reflection.
•Intraocular pressure.
•Confocal microscopy to determine endothelial cell count
•Pachymetry to determine central corneal thickness
Workup

20. Medical Therapy
 Conservative options-
Topical sodium chloride 5% drops or ointment,
Reduction of intraocular pressure ,
Use of a hair dryer for corneal dehydration.
 In case of Ruptured bullae -
Use of soft bandage contact lenses,
Cycloplegic agents
Antibiotic ointment and lubricants.

21. Surgery
• Anterior stromal puncture and BCL.
• amniotic membrane transplantation
• conjunctival flaps
• Posterior lamellar keratoplasty
 Descemet membrane-stripping endothelial keratoplasty – DSEK
 Descemet membrane endothelial keratoplasty – DMEK
• penetrating keratoplasty

23. Dystrophy
Mode
of
Inheritance
Gene Locus Gene
IC3D
Category
Epithelial basement membrane dystrophy
(EBMD)
Mostly sporadic 5q31
TGFBI in minority
of cases
1 in minority
of cases
Epithelial recurrent erosion dystrophy (ERED) AD Unknown Unknown
4,3
(Smolandie
nsis)
Subepithelial mucinous corneal dystrophy
(SMCD)
AD Unknown Unknown 4
Meesman corneal dystrophy (MECD) AD
12q12, 17q12
(Stocker-Holt)
KRT3, KRT12
(Stocker-Holt)
1 including
Stocker-
Holt
Lisch epithelial corneal dystrophy XD Xp 22.3 Unknown 2
Gelatinous drop-like corneal dystrophy AR Ip32 TACSTD2 1
Epithelial and sub-epithelial dystrophies

24. Dystrophy
Mode of
Inheritance
Gene Locus Gene IC3D Category
Reis-Bucklers corneal
dystrophy
AD 5q31 TGFBI 1
Thiel-Benke corneal
dystrophy
AD 10q24 Unknown 2
Grayson-Wilbrandt Corneal
Dystrophy
AD Unknown Unknown
4
Bowman's layer dystrophies

25. Dystrophy
Mode of
Inheritance
Gene Locus Gene
IC3D
Category
Lattice corneal dystrophy, type 1 and variants AD 5q31
TGFBI
1
Granular corneal dystrophy, type 1 AD 5q31
TGFBI
1
Macular corneal dystrophy AR
16Q22
CHST6
1
Schnyder corneal dystrophy AD
1p36
UBIAD1
1
Congenital stromal corneal dystrophy AD
12q31.33
DCN
1
Fleck corneal dystrophy
AD 2q35 PIP5K3
1
Posterior amorphous corneal dystrophy AD Unknown Unknown 3
Central cloudy dystrophy of Francois Unknown Unknown Unknown 4
Pre-Descemet corneal dystrophy Unknown Unknown Unknown
4
Stromal dystrophies

26. Dystrophy
Mode of
Inheritance
Gene Locus Gene
IC3D
Category
Fuch's endothelial corneal dystrophy, late onset
Unknown, some
AD
13pTel-13q12.13,
15q, 18q21.2-
q21.23
Unknown 2
Fuch's endothelial corneal dystrophy, early onset AD
Ip34.3 COL8A2 1
Posterior polymorphous corneal dystrophy 1
AD 20p11.12-q11.2
Unknown
2
Posterior polymorphous corneal dystrophy 2 AD Ip34.3-p32.3 COL8A2 1
Posterior polymorphous corneal dystrophy 3 AD 10p11.12
ZEB1
1
Congenital hereditary endotholial dystrophy 1 AD
20p11.12-q11.2 Unknown 2
X-linked endothelial corneal dystrophy XS Xq25 Unknown
2
Descemet's membrane and endothelial dystrophies