Article
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Weleber R G, Carr R E, Murphey W H, Sheffield V C, Stone E M
Abstract excerpt
BACKGROUND AND OBJECTIVES: Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene. DESIGN: Case reports with clinical features, fluorescein...
Topics
- Adult
- Aged
- Child
- Chromosome Deletion
- Codon
- DNA Mutational Analysis
- Female
- Fundus Oculi
- Humans
- Intermediate Filament Proteins
- Macular Degeneration