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

摘要: Background and Objectives: Mutations of the peripherin/RDSgene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, punctata albescens. We report herein occurrence three separate phenotypes within a single family with novel 3—base pair deletion codon 153 or 154 peripherin/RDS gene. Design: Case reports clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, molecular genetics. Setting: University medical centers. Patients: A 75-year-old woman, her two daughters (aged 44 50 years), 49-year-old son were screened for peripherin/RDSmutations because presence multiple same family. Results: The mother presented at age 63 years profoundly abnormal electroretinogram (ERG) adult-onset pigmentosa that progressed dramatically over 12 years, marked loss peripheral visual field. One daughter developed dystrophy 31 years. At ERG was moderately but disease limited to macula. Another 42 degeneration 10 picture fundus flavimaculatus. Her field preserved abnormal. had onset Pericentral scotomas present markedly Fluorescein angiography revealed punctate pigment epithelial transmission defects. Conclusions: can produce clinically disparate even