corneal dystrophy
TRANSCRIPT
CASE PRESENTATION
PRESENTER- DR ANKITA LAKHOTIYAMODERATOR- DR ABHISHEK HOSHING
Case 1
Age: 17 yrs
Sex: Female
Resident of Panvel
Date Of Visit: 15/11/2015
History Left eye – pricking sensation – 1 ½ years
No H/O diminution of visionNo H/O photophobia No H/O redness No H/O glassesNo H/O any systemic illnessDrug history-Nil
ExaminationGeneral Examination : WNLOcular 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
Ocular ExaminationRIGHT 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
CLINICAL PHOTOS
Case 2
Age: 29
Sex: Female
Resident of Uran
Date Of Visit: 05/01/16
HistoryBoth eyes - Gradual diminution of vision since
5 yearsBoth eyes – Pain and pricking sensation
No H/O redness No H/O watering in both eyes No H/O glasses No H/O trauma
Examination
Visual acuity Right eye Left eyeUnaided 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
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 , QuietIris NCP NCPPupil 3mm reacting to light 3mm reacting to lightLens Clear Clear Fundus Hazy view Hazy view
Clinical photos
Case 3
Age: 40
Sex: Female
Resident of New Panvel
Date Of Visit: 22/08/15
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
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
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 NCPPupil RRTL RRTLLens Clear Clear Fundus Normal Normal
Clinical photos
SUMMARY Corneal Opacities
All cases are bilateral symmetrical,All have central corneal opacity No signs of inflammationNo vascularisation
CORNEAL DYSTROPHY
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 .
Anatomical classification 1. Epithelial Basement Dystrophy
2. Bowmans Dystrophy
3. Stromal Dystrophy
4. Endothelium Dystrophy
EPITHILIAL DYSTROPHY Epithelial basement membrane dystrophy
(EMBD) Meesman’s dystrophy
BOWMANS DYSTROPHY
Reis-Buckler dystrophy Theil- Behnke dystrophy
Anatomical Classification
STROMAL DYSTROPHY Granular dystrophy Lattice dystrophy Avellino corneal dystrophy Macular dystrophy Gelatinous drop like dystrophy Schnyder crystalline corneal dystrophy Fleck dystrophy Central cloudy dystrophy of Francois Congenital hereditary stromal dystrophy
Anatomical Classification
Anatomical ClassificationENDOTHELIAL DYSTROPHY
Posterior Polymorphous Dystrophy Fuchs Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Dystrophy
Granular Dystrophy Autosomal Dominant Bilaterally symmetric affecting central
cornea. Central and peripheral cornea clearAccumulation of phospholipid materialCharacterized by discrete white dense round
to oval granular opacities lie in the relatively clear stroma forming variety of patterns
Patterns - Arcuate chains - straight lines
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
Macular Dystrophy Autosomal recessiveOften occurs in pedigrees with consanguilityAccumulation of glyocosoaminoglycans intra
and extra cellularly Diffuse fine superficial clouding extending to
the periphery Involvement of central and peripheral cornea
with all layers of corneaOften associated with thin cornea
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
LATTICE DYSTROPHY Autosomal dominantAccumulation of amyloid in the stroma often
arranged in the branching patternPossible 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
Lattice corneal dystrophy
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
Avellino Dystropy
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 changes4 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.
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
AIM- To develop a new classification system for the corneal dystrophies , integrating up to –date information on phenotype description, pathologic examination, and genetic analysis.
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
Inheritance pattern : Recessive and X linked
MODE OF INHERITANCE
IC3D CATEGORY
Gelatinous drop like corneal opacity
AR 1
Macular corneal dystrophy AR 1Congenital endothelial dystrophy type 2
AR 2
Lisch epithelial dystrophy XR 2X linked corneal endothelium dystrophy
XR 2
Inheritance pattern :Dominant MODE OF INHERITANCE
IC3D CATEGORY
Meesman’s corneal dystrophy AD 1Stocker Holt dystrophy AD 1Reis – Buckler dystrophy AD 1Thiel – Behnke dystrophy AD 5q31 1Thiel – Behnke dystrophy AD 10q23-q24 1Subepithelial mucinous corneal dystrophy
AD 4
MODE OF INHERITANCE
IC3D CATEGORY
Epithelial recurrent erosion dystrophy
AD 2
Granular corneal dystrophy 1 AD 1Avellino dystrophy AD 1Lattice corneal dystrophy 1 AD 1Lattice Corneal dystrophy 2 AD 1Fleck dystrophy AD 1Schnyder corneal dystrophy AD 1Posterior amorphous corneal dystrophy
AD 3
Congenital stromal dystrophy AD 1
Inheritance pattern: Dominant
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
Fuch’s endothelial dystrophy
Reis Buckler dystrophy
Sub epithelial mucinous dystrophy
Clinical pictures
Cogan’s map dystrophy
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
Thank you