Article
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Human mutation - 1 Jan 1997
Felbor U, Schilling H, Weber B H
Abstract excerpt
Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as retinitis pigmentosa or macular degeneration are still unknown. Recently, a single case of adult vitelliform macular...
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