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

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Autosomal Dominant Recurrent CornealErosion Dystrophy• Autosomal dominant; genetic locus unknown• Attacks of RCEs usually by age 5• Subside by 30-40 years• Attacks last for a few days to months• Can be triggered by URI, dry air, lack of sleep, trauma, smoke• Subepithelial fibrotic opacities (keloids)• Thickened subepithelium with chondroitin and dermatan sulfate• Hudson-Stahli line• Treatment: Problematic- ointments and PTK=marginallysuccessful; rest in dark rooms during attacksBowman’s Layer Dystrophies:Reis-Buckler’s DystrophyThiel-Behnke Dystrophy• Rod or ring-shaped opacities confined to Bowman’smembrane=honey-comb or fish-net appearance• Made up of collagen fibrils;• Thickened epithelium• Irregular astigmatism, less corneal sensation, RCEs• Vision good until later decades• PTK beneficial• Mutation maps to the Transforming Growth Factor Beta- inducedTGFBI) gene on chromosome 5 (5q31)• TGFB1 plays a role in corneal development and healing; it also interactswith collagen and other structural elements; it is expressed in the corneaand in other parts of the body.• TGFB1 mutations cause some of the stromal dystrophies as well6
Stromal Corneal DystrophiesGranular Dystrophy• Granular Dystrophy I• Lattice Dystrophy• Type I (typical)• Type II (lattice-like)• Type III, IIIA, IIIB• Type IV, V, VI, VII• Granular Dystrophy II-Avellino Dystrophy(granular + lattice)• Macular Dystrophy• Central CrystallineDystrophy of Schnyder• Fleck Dystrophy• Central Cloudy Dystrophy• Pre-Descemet’sdystrophy• Common stromal dystrophy• Opacities consist of white, round, crumb-like spotsand/or rings• Stroma in between opacities is clear early on• Good visual acuity until 7th or 8th decade when spotscoalesce and stroma between the spots is affected• Mutuation localized to the TGFBI gene on chromosome5(5q31)7
Page 1 and 2: The GeneticMysteries of theCorneal
Page 3 and 4: Epithelial Basement Membrane Dystro
Page 8 and 9: Granular Dystrophy• Opacities con
Page 11 and 12: Lattice Dystrophy Type II• Associ
Page 13 and 14: Central “Crystalline” Dystrophy
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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