Parth cd
- 2. Corneal dystrophy is a bilateral inherited disorders and it is usually progressive.
- 3. Epithelial & Subepithelial dystrophies 1. Epithelial basement membrane dystrophy (EBMD) 2. Epithelial recurrent erosion dystrophy (ERED) 3. Sub epithelial mucinous corneal dystrophy (SMCD) 4. Mutation in keratin genes:Meesmann corneal dystrophy (MECD) 5. Lisch epithelial corneal dystrophy (LECD) 6. Gelatinous drop-like corneal dystrophy (GDLD) Bowman layer dystrophies 1. Reis-Bucklers corneal dystrophy (RBCD) 2. Thie-Behnke corneal dystrophy type 3 (TBCD) 3. Grayson-Wilbrandt corneal dystrophy
- 4. Stromal dystrophies 1. TGFβ1 corneal dystrophies a) Lattice corneal dystrophy i. Classic lattice corneal dystrophy 1 (LCD 1) ii. Lattice corneal dystrophy,gelsolin type 2 (LCD 2) b) Granular corneal dystrophy i. Granular corneal dystrophy,type 1(classic) (GCD 1) ii. Granular corneal dystrophy,type 2(classic) (GCD 2) iii. Granular corneal dystrophy,type 3 (GCD 3) 2. Macular corneal dystrophy (MCD) 3. Schnyder dystophy (SCD) 4. Congenital stromal corneal dystrophy (CSCD) 5. Fleck corneal dystrophy 6. Posterior amorphous corneal dystrophy (PACD) 7. Central cloudy dystrophy of Francois (CCDF) 8. Pre-descemet corneal dystrophy (PDCD)
- 5. Descemet membrane & Endothelial dystrophies 1. Fuchs endothelial corneal dystrophy (FECD) 2. Posterior polymorphous corneal dystrophy (PPCD) 3. Congenital hereditary endothelial dystrophy 1 (CHED 1) 4. Congenital hereditary endothelial dystrophy 2 (CHED 2) 5. X-linked endothelial corneal dystrophy (XECD)
- 6. EPITHELIAL BASEMENT MEMBRANE DYSTROPHY EPITHELIAL RECURRENT EROSION DYSTROPHY SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY MUTATION IN KERATIN GENES :MEESMAN CORNEAL DYSTROPHY LISCH EPITHELIAL CORNEAL DYSTROPHY GELATINOUS DROP-LIKE DYSTROPHY INHERITANCE: no inheritance INHERITANCE: autosomal dominant INHERITANCE: autosomal dominant IINHERITANCE: autosomal dominant INHERITANCE: X-linked chromosomal dominant INHERITANCE: autosomal recessive Onset,course,sy mptom: presents in adult life,rarely seen in children. Asymptomatic or recurrent erosion with pain ,lacrimation & blurred vision. Except for the bleb pattern, on-axis lesions may also cause blurred vision due to irregular astigmatism. Onset,course,sy mptom: Erosion appear typically at 4-6 years of age some times as early as 8 months of age then decline in frequency in intensity & cease by 50 years. they are precipitated by minimal trauma & are in the form of attack of redness,photop hobia, ocular pain. Onset,course,sy mptom: Onset is in first decade of life & progressive loss of vision occurs in adolescence. It include painful episodes of recurrent corneal erosion which decrease during adolescence. Onset,course,sy mptom: occurs in early childhood & is slowly progressive with variant stocker holt dystrophy with mild visual reduction patient complains glare & light sensitivity, recurrent painful epithelial erosions. Rarely blurred vision results from corneal irregularity & scarring. Onset,course,s ymptom: occurs in childhood with slow progression of opacities. Asymptomatic blurring of vision occurs if pupillary zone is involved. Onset,course,symp tom: occurs in first decade of life & is progressive. Significant decrease in vision ,photophobia,irrita tion,redness,tearin g.
- 7. EPITHELIAL BASEMENT MEMBRANE DYSTROPHY EPITHELIAL RECURRENT EROSION DYSTROPHY SUBEPITHELIAL MUCINOUS CORNEAL DYSTROPHY MUTATION IN KERATIN GENES :MEESMAN CORNEAL DYSTROPHY LISCH EPITHELIAL CORNEAL DYSTROPHY GELATINOUS DROP-LIKE DYSTROPHY SIGNS : MAPS: irregular island of thickened, gray ,hazy epithelium with scalloped circumscribed borders, affecting the central or paracentral cornea. DOTS: irregular round ,oval or comma shaped, non staining, putty-gray opacities.BLEBPATT ERN: sub epithelial pattern like pebbled glass best seen by retro illumination .. FINGERPRINT LINES: parallel ,curvilinear lines, usually paracentral,best seen in retro illumination, isolated or combined with maps. SIGNS : CORNEAL EROSIONS:are seen during 4-6 years of age sometimes as early as 8 months of age & generally decline in frequency & intensity & cease by 50 yrs.SUBEPITHELIA L HAZE OR BLEB: may be seen between attacks CENTARL SUBEPITHELIAL CORNEAL OPACITIES: may appear as early as 7 yrs of age. SIGNS : It include bilateral sub epithelial opacities & has most dense centrally, involving the entire cornea. SIGNS : Multiple tiny epithelial vesicles which extend to the limbus & are most numerous in the inter palpebral area with clear surrounding epithelium . Whorled & wedge shaped epithelial patterns have seen. Cornea; thickening & reduction in the corneal sensation may be seen. the entire cornea demonstrate fine,grayish punctuate epithelial opacities that stain with flurorescein & fine linear opacities that may appear in a whorl pattern . SIGNS : Direct illumination: shows localised gray opacities in different pattern.: whorl like radial, band shaped ,flame. INDIRECT ILLUMINATION: demonstrates multiple,densly crowded clear cyst with clear surrounding epithelium. SIGNS : SUBEPITHELIAL LESIONS: appear initially may be similar to band shaped keratopathy or there may be groups of small multiple nodules, that is mulberry configuration SUPERFICIAL VASCU LARISATION: is frequently seen.
- 9. REIS-BUCKLERS CORNEAL DYTROPHIES THIEL-BEHNKE CORNEAL DYSTROPHY GRAYSON-WILBRANDT CORNEAL DYSTROPHY INHERITANCE: autosomal dominant INHERITANCE: autosomal dominant INHERITANCE: autosomal dominant ONSET,COURSE: also known as dystrophy of bowman layer type 1.occurs in childhood & cause slowly progressive deterioration of vision. ONSET,COURSE: is also known as dystrophy of Bowman layer type 2 occurs in childhood & slowly progressive deterioration of vision from increase corneal opacification. ONSET,COURSE: occurs during first to second decade of life & condition is progressive. SYMPTOMS: vision is impaired from childhood. Erosions cause ocular discomfort and pain in first decade but may become less severe from the end of second decade. SYMPTOMS: erosion cause ocular discomfort & pain in the first & second decade. Gradual visual impairment develops later. SYMPTOMS: decreased to normal visual acuity. Erosion may cause ocular discomfort & pain. SIGNS: include confluent irregular and coarse geographic like opacities with varying densities which develop at the level of Bowman layer & superficial stroma, initially separated from one another opacities may extend to the limbus and deeper stroma with time. SIGNS: include symmetrical sub epithelial reticular opacities with peripheral cornea typically uninvolved, which can progress to deep stromal layers & corneal periphery. SIGNS: Bowman layer demonstrate variable pattern of opacification from which extend anteriorly into the epithelium. The cornea between the deposits is clear refractile bodies are describe in corneal stroma.
- 10. 1. TGFβ1 corneal dystrophies a) Lattice corneal dystrophy 1. Classical lattice corneal dystrophy Known as Biber-Haab-Dimmer dystrophy Inheritance – autosomal dominant Onset,course,symptoms: appears at the age of 2 years & progressive, ocular discomfort ,pain occur sometimes as early as first decade of life. Progressive clouding at central cornea is apparent by age of 20 years, visual acuity is impaired. Keretoplasty is required at age of 30-40 years. Signs : Branching spider-like amyloid deposits forming an irregular lattice work in the corneal stroma, sparing the periphery. The number of lattice lines may differ between the 2 eyes & dystrophy may be difficult to diagnose in some younger patients.
- 11. 2. Lattice corneal dystrophy , Gelsolin Type (LCD2) Known as familial amyloidosis of Finnish (FAF) Inheritance : autosomal dominant Onset & course : Occurs in third or forth decade of life, Slowly progressive, majority of patients are good health even in seventh decade of life. Signs :Corneal sensitivity is reduced or absent. Symptoms : Dry eye frequently, corneal erosion may occur in late life. Visual acuity is normal because of the dystrophy progress peripheral to central cornea.
- 12. b) Granular dystrophy 1.Granular corneal dystrophy, type 1 (classic) (GCDI) Known as corneal dystrophy groenouw type 1 Inheritance : autosomal dominant Onset & course :Occurs in childhood as soon as 2years of age, Condition progressive. Symptoms : Glare & photophobia,pain,watering,visual acuity decrease with increase of age. Signs :Milky granular hyaline deposits in anterior stroma,opacification do not extend limbus. 2. Granular corneal dystrophy , Type 2 (Granular lattice) (GCD2) Known as combined granular –lattice corneal Inheritance : autosomal dominant Onset & course : Occurs in first decade, condition is progressive. Symptoms : Vision decrease with age, pain, ocular discomfort. Signs : Superficial stromal tiny whitish dots, rings shaped snowflake stromal opacities appearing between superficial stroma & mid stroma & the next lesion, translucent flattened breadcrumb opacities are seen in the final stages.
- 13. Star-shaped and breadcrumb-like opacities in the eyes of a patient with Granular Corneal Dystrophy Type 2.
- 14. 2. Macular corneal dystrophy (MCD) Known as Fehr spotted dystrophy Onset & course : occurs in childhood & slowly progressive. Inheritance :autosomal dominant Symptoms : Photophobia & pain, visual impairment, occurs between 10 & 30 years of age. Signs : corneal sensitivity reduced,ireggular whitish opacities develop letter. Stromal opacities in the central cornea in Macular Corneal Dystrophy.
- 15. 3. Schnyder corneal dystrophy (SCD) Known as hereditary crystalline stromal dystrophy of schnyder. Inheritance : autosomal dominant Onset & course : Appear at birth time or first decade of life, slowly progressive & usually asymptomatic. Symptoms : visual acuity decreases with age, scotopic vision is good but photopic vision is decreased. Signs : corneal sensation decrease with age. A. Early opacity. B. Early opacity with crystals. C. Central ring shaped opacity
- 16. 4.Congenital stromal corneal dystrophy (CSCD) Known as congenital hereditary stromal dystrophy Inheritance : autosomal dominant onset & Corse : occurs congenitally & non progressive or slowly progressive. Sign & symptoms : lesions are diffused, bilateral, corneal clouding with flake-like, whitish stromal opacities throughout the stroma, causing moderate to severe visual loss. 5. Flack corneal dystrophy (FCD) Known as francois-neetens specked corneal dystrophy Inheritance : autosomal dominant Onset & course : occurs congenitally & is non progressive. Signs & symptoms : asymptomatic condition, dandruff like opacities or some times ring shaped opacities .
- 17. 6.Posterior amorphous corneal dystrophy (PACD) Known as amorphous stromal dystrophy Inheritance : autosomal dominant Onset & course : occurs in first decade of life, congenital, non or slowly progressive. Signs & symptoms : gray white sheet-like opacities, mild decrease in visual acuity. 7. Central cloudy dystrophy of Francois (CCDF) Inheritance : unknown Onset & course : occurs in first decade, non-progressive. Sign & symptoms : mostly asymptomatic, rounded stromal opacities that interiorly & peripherally & are surrounded by clear tissue. 8.Pre-descemet corneal dystrophy Inheritance : unknown Onsets & course : occurs after 30 years of age ,non-progressive. Signs & symptoms: usually asymptomatic ,gray opacities.
- 18. FUCHS ENDOTHELIAL CORNEAL DYSTROPHY POSTERIOR POLYMORPHOU S CORNEAL DYSTROPHY(PP CD) CONGENITAL HEREDITARY ENDOTHELIAL DYTROPHY 1 (CHED 1) CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY 2 X-LINKED ENDOTHELIAL CORNEAL DYSTROPHY Inheritance: autosomal dominant or sporadic in nature Inheritance: autosomal dominant Inheritance: autosomal dominant Inheritance: autosomal recessive Inheritance: x- chromosomal dominant Onset & course: Slowly progressive bilateral affecting females more than males usually 5th & 6th decade of life open angle glaucoma is common association. Onset & course: Occurs in early childhood slowly progressive . Onset & course: Occurs in 1st or 2nd yr of life. Occasionally congenital progression of corneal clouding occurs over 1 to 10 years. Onset & course: Occurs congenitally & is relatively stable condition. Onset & course: Occurs congenitally progressive condition in males & non progressive condition in females.
- 19. FUCHS ENDOTHELIAL CORNEAL DYSTROPHY POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY(PPC D) CONGENITAL HEREDITARY ENDOTHELIAL DYTROPHY 1 (CHED 1) CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY 2 X-LINKED ENDOTHELIAL CORNEAL DYSTROPHY Clinical features: Stromal oedima,pain,disc omfortness,blurri ng of vision, decrease in visual acuity, irritation. Sign & symptoms :deep corneal lesions of various shapes like nodular,vesicular, blister like lesion. Varying gray tissue at the level of descemet membrane. Sign & symptoms : endothelial changes in the form of moon crater like changes. Corneal clouding ranging from diffuse haze to ground glass, milky appearance with occasional focal gray sports causing blurred vision,photophob ia,watering. Thickening of cornea (2-3 times thickness).IOP increased rarely. Sign & symptoms : condition is more common & severe than (CHED 1), Nystagmus. Sign & symptoms : male patients have blurring of vision associated with corneal clouding since birth, milky appearance ,nystagmus. Female patients are asymptomatic, moon crater like change in both.
- 20. COMPREHENSIVE OPTHALMOLOGY – A.K. KHURANA Page no.124-131. ESSENTIALS OF LOWVISION PRACTICE – RICHARD L. BRILLIANT Page no.87,88. http://www.slideshare.net/avanisingla/corne al-dystrophies http://www.reviewofcontactlenses.com/conte nt/d/disease/c/21310