Article
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
Investigative ophthalmology & visual science - 1 Jun 2005
Gottsch John D, Sundin Olof H, Liu Sammy H, Jun Albert S, Broman Karl W, Stark Walter J, Vito Elizabeth C L, Narang Amol K, Thompson John M, Magovern Malcolm
Abstract excerpt
PURPOSE: To characterize the genetic basis and phenotype of inherited Fuchs corneal dystrophy (FCD). METHODS: DNA from blood was used for genome-wide linkage scans with tandem repeat polymorphisms. Mutation detection involved sequencing PCR-amplified exons. Families with FCD were clinically evaluated and graded on the Krachmer severity scale. Confocal specular microscopy visualized the morphology of endothelial...
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