Article
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.
Investigative ophthalmology & visual science - 1 Aug 2003
Khani Shahrokh C, Karoukis Athanasios J, Young Joyce E, Ambasudhan Rajesh, Burch Tracy, Stockton Richard, Lewis Richard Alan, Sullivan Lori S, Daiger Stephen P, Reichel Elias, Ayyagari Radha
Abstract excerpt
PURPOSE: To examine the molecular genetic basis and phenotypic characteristics of an unusual late-onset autosomal dominant macular dystrophy with features of age-related macular degeneration (AMD) in a large family (SUNY901), by using linkage and mutation analyses. METHODS: Blood samples were collected from 17 affected members, 17 clinically unaffected members, and 5 unrelated spouses. Clinical analyses included...
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