corneal dystrophy

41
CASE PRESENTATION PRESENTER- DR ANKITA LAKHOTIYA MODERATOR- DR ABHISHEK HOSHING

Upload: laxmi-eye-institute

Post on 20-Jan-2017

883 views

Category:

Healthcare


1 download

TRANSCRIPT

Page 1: Corneal dystrophy

CASE PRESENTATION

PRESENTER- DR ANKITA LAKHOTIYAMODERATOR- DR ABHISHEK HOSHING

Page 2: Corneal dystrophy

Case 1

Age: 17 yrs

Sex: Female

Resident of Panvel

Date Of Visit: 15/11/2015

Page 3: Corneal dystrophy

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

Page 4: Corneal dystrophy

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

Page 5: Corneal dystrophy

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

Page 6: Corneal dystrophy

CLINICAL PHOTOS

Page 7: Corneal dystrophy

Case 2

Age: 29

Sex: Female

Resident of Uran

Date Of Visit: 05/01/16

Page 8: Corneal dystrophy

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

Page 9: Corneal dystrophy

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

Page 10: Corneal dystrophy

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

Page 11: Corneal dystrophy

Clinical photos

Page 12: Corneal dystrophy

Case 3

Age: 40

Sex: Female

Resident of New Panvel

Date Of Visit: 22/08/15

Page 13: Corneal dystrophy

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

Page 14: Corneal dystrophy

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

Page 15: Corneal dystrophy

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

Page 16: Corneal dystrophy

Clinical photos

Page 17: Corneal dystrophy

SUMMARY Corneal Opacities

All cases are bilateral symmetrical,All have central corneal opacity No signs of inflammationNo vascularisation

CORNEAL DYSTROPHY

Page 18: 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 .

Page 19: Corneal dystrophy

Anatomical classification 1. Epithelial Basement Dystrophy

2. Bowmans Dystrophy

3. Stromal Dystrophy

4. Endothelium Dystrophy

Page 20: Corneal dystrophy

EPITHILIAL DYSTROPHY Epithelial basement membrane dystrophy

(EMBD) Meesman’s dystrophy

BOWMANS DYSTROPHY

Reis-Buckler dystrophy Theil- Behnke dystrophy

Anatomical Classification

Page 21: Corneal dystrophy

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

Page 22: Corneal dystrophy

Anatomical ClassificationENDOTHELIAL DYSTROPHY

Posterior Polymorphous Dystrophy Fuchs Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Dystrophy

Page 23: Corneal 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

Page 24: Corneal dystrophy

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

Page 25: Corneal dystrophy

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

Page 26: Corneal dystrophy

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

Page 27: Corneal dystrophy

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

Page 28: Corneal dystrophy

Lattice corneal dystrophy

Page 29: 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

Page 30: Corneal dystrophy

Avellino Dystropy

Page 31: Corneal dystrophy

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.

Page 32: Corneal dystrophy

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

Page 33: Corneal dystrophy

AIM- To develop a new classification system for the corneal dystrophies , integrating up to –date information on phenotype description, pathologic examination, and genetic analysis.

Page 34: Corneal dystrophy

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

Page 35: Corneal dystrophy

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

Page 36: Corneal dystrophy

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

Page 37: Corneal dystrophy

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

Page 38: Corneal dystrophy

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

Page 39: Corneal dystrophy

Fuch’s endothelial dystrophy

Reis Buckler dystrophy

Sub epithelial mucinous dystrophy

Clinical pictures

Cogan’s map dystrophy

Page 40: Corneal 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

Page 41: Corneal dystrophy

Thank you