The Genetic Mysteries of the Corneal Dystrophies The Genetic ...

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Combined Granular and Lattice Dystrophy(Avellino Dystrophy)• Granular and lattice type changes in the same eye• Hyaline and amyloid deposits in stroma• Granular changes early onset; lattice changes occurlater• Good vision in early stages• Both granular and lattice mutations are on the samegene (TGFBI), so is not surprising to find bothphenotypic presentations in one individualMacular Dystrophy• Autosomal recessive• Early onset• Vision more severelyaffected than in otherstromal dystrophies• Characterized by stromalhaze, and milky whiteopacities(glucosaminoglycans)• Progresses to cornealperiphery by ages 20-30• By age 40, PK may berequired• Mutation localized to thecarbohydratesulfotransferase (CHST6)gene on chromosome 16(16q22)12
Central “Crystalline” Dystrophy ofSchnyder• Characterized by centralstromal cholesterol andphospholipid deposits,sometimes with an arcus• Only 50% have “crystals”• Visual acuity onlyreduced if opacities aredense and central• Another rare dystrophyassociated with asystemic disorder• Rule out hyperlipidemia• Mutation (N102S) onshort arm of chromosome1 (1p34-36) the UBIAD1gene• Plays a role in cholesterolmetabolism13
Page 1 and 2: The GeneticMysteries of theCorneal
Page 3 and 4: Epithelial Basement Membrane Dystro
Page 6 and 7: Autosomal Dominant Recurrent Cornea
Page 8 and 9: Granular Dystrophy• Opacities con
Page 11: Lattice Dystrophy Type II• Associ
Page 15 and 16: Pre-Descemets Dystrophy• Fine, de
Page 17 and 18: Treatment of Fuch’s Dystrophy•
Page 19 and 20: Posterior Polymorphous Dystrophy•

The Genetic Mysteries of the Corneal Dystrophies The Genetic ...

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