corneal dystrophy

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Author: laxmi-eye-institute

Post on 21-Apr-2017




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Case 1

Age: 17 yrsSex: FemaleResident of PanvelDate Of Visit: 15/11/2015


Left eye pricking sensation 1 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 AcuityRIGHT EYELEFT EYEUnaided 6/6 (B) N66/6(B) N6Distance+0.50/-0.50*80 6/6+0.25/-0.75*5 6/6NearN6N6

Ocular ExaminationRIGHT EYELEFT EYELids and adnexaWNLWNLConjunctivaPapillae PapillaeCorneaDescribed in picture Describe in pictureScleraNormalNormal ACWell formed, quietWell formed, quietIrisNormalnormal

Pupil3 mm ,RRR3mm,RRR




Case 2 Age: 29 Sex: FemaleResident of UranDate 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 acuityRight eyeLeft eyeUnaided FC 1 meterFC 1 meter BCVA+3.00/-2.0 *1706/36+2.0/-2.0*1106/36Near N18N18

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 NCPNCPPupil 3mm reacting to light 3mm reacting to lightLens Clear Clear Fundus Hazy view Hazy view

Clinical photos

Case 3 Age: 40Sex: FemaleResident 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

ExaminationRight eye Left eye Unaided FC 2 meterFC 2 meterBCVANIG FC 2.5 meterNIG FC 2.5 meterNear +1.0 - N12+1.0 - N12

Ocular examination Right eyeLeft 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 NCPNCPPupil RRTL RRTLLens Clear Clear Fundus Normal Normal

Clinical photos


Corneal Opacities

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



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 Epithelial Basement Dystrophy

Bowmans Dystrophy

Stromal Dystrophy

Endothelium Dystrophy

EPITHILIAL DYSTROPHYEpithelial basement membrane dystrophy (EMBD)Meesmans dystrophy BOWMANS DYSTROPHYReis-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 dystrophyAnatomical Classification

Anatomical ClassificationENDOTHELIAL DYSTROPHYPosterior 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- Massons 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 PASClinical 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 productionClinical features recurrent erosions - decrease in visual acuity Stains with orange red with congo red - PAS, massons 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 Anterior stromal discrete gray white granular deposits Mid to posterior stromal lattice lesions Anterior stromal haze

Avellino Dystropy

Corneal Degenerations Dystrophy Degeneration 1Bilateral and symmetric Unilateral or bilateral 2Heriditary Sporadic 3Appears early in life Appears late in life and considered as aging changes4Non inflammatory Inflammatory 5Avascular and located centrally Often eccentric and peripheral and are related to vascularity 6Usually painless except in recurrent epithelial erosions Mostly associated with pain 7Systemic associations are rareLocal 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 CATEGORYGelatinous drop like corneal opacity AR1Macular corneal dystrophyAR1Congenital endothelial dystrophy type 2 AR2Lisch epithelial dystrophyXR2X linked corneal endothelium dystrophy XR2

Inheritance pattern :Dominant MODE OF INHERITANCE IC3D CATEGORYMeesmans corneal dystrophy AD1Stocker Holt dystrophy AD1Reis Buckler dystrophyAD1Thiel Behnke dystrophy AD 5q311Thiel Behnke dystrophy AD 10q23-q241Subepithelial mucinous corneal dystrophy AD4

MODE OF INHERITANCE IC3D CATEGORYEpithelial recurrent erosion dystrophy AD2Granular corneal dystrophy 1AD1Avellino dystrophy AD1Lattice corneal dystrophy 1 AD1Lattice Corneal dystrophy 2AD1Fleck dystrophyAD1Schnyder corneal dystrophyAD1Posterior amorphous corneal dystrophy AD3Congenital stromal dystrophyAD1

Inheritance pattern: Dominant

MODE OF INHERITANCE IC3D CATEGORYFuchs dystrophy (early onset)AD Ip34.31Fuchs dystrophy(late onset)AD 13pTel-13q12.132Fuchs dystrophy (late onset)AD 18q21.2-q21.322Fuchs dystrophy (late onset)? 20p13-p121Posterior polymorphous dystrophy type 1AD2Posterior polymorphous dystrophy type 2 AD1Posterior polymorphous dystrophy type 3 AD1Congenital endothelial dystrophy type 1AD2

Inheritance pattern : Dominant

Fuchs endothelial dystrophy

Reis Buckler dystrophy

Sub epithelial mucinous dystrophy Clinical pictures Cogans map dystrophy

SUPERFICIAL CORNEAL DYSTROPHY MECD Early childhood Vision rarely blurred Multiple distinct epithelial vesicles RBCDChildhoodProgressive VIIrregular geographic opacities TBCD1st or 2nd decade Progressive VISub epithelial honeycomb opacities GDED1st or 2nd decadeMarked VISub epithelial nodular deposits LECDChildhood Sometimes impaired Epithelial opacities in different patterns ERED1st decade Sometimes impaired Epithelial erosions SMCD1st decade Progressive loss of vision Sub epithelial opacities

Corneal stromal dystrophiesDisease onsetVisual acuity Clinical appearance on slit lamp MCDChildhood Eventually severe visual impairement Thinner than Normal cornea with diffuse corneal haze with irregular shaped corneal opacitiesGCD type 1Childhood Progressive visual impairemnentWell defined granules that sometimes resemble crushed bread crumbs GCD type 2 1 or 2nd decade Progressive VIVariable shaped opacities . Lattice sometimes appears.LCD type 1 and variants1st decadeProgressive VIDelicate branching interwoven opacities in association with ovoid dotsLCD type 2 3 or 4th decade Progressive VICorneal opacities like lattice in peripheral cornea

Corneal stromal dystrophiesDisease onset Visual acuity Clinical appearance of cornea on slit lamp FCDAt birthNormal Small discrete dandruff or ring shaped fleck like opacitiesSCDEarly in life Progressive decrease in VACentral corneal haze or subepithelial crystalsCSCDBefore birthModerate to severe visual lossDiffuse central clouding with flake like opacitiesPACDInfancy or childhoodMildly affected. Diffuse sheet like opacities

POSTERIOR DYSTROPHIESFECDVariable but usually 4th decade Progressive VIDiffuse thickning of DM with guttaePPCDEarly childhood Rarely progressive VIVariable shaped abnormalities of the corneal endotheliumCHED1Occasionally at birth , but usually in 1 st or 2nd decade Blurred vision that worsens in morning Thickened cornea with diffuse clouding with focal gray spots CHED2At birth Blurred vision Thickened cornea with diffuse clouding with focal gray spots XECDAt birth Blurred vision common in males Cloudy cornea with moon crater like endothelial cells

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 visionTreatment will be tailored according to the patients requirement

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