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A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration
Journal article   Open access   Peer reviewed

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

Michael B Gorin, Kelly E Jackson, Robert E Ferrell, Val C Sheffield, Samuel G Jacobson, J. Donald M Gass, Elysey Mitchell and Edwin M Stone
Ophthalmology (Rochester, Minn.), Vol.102(2), pp.246-255
02/1995
DOI: 10.1016/S0161-6420(95)31029-9
PMID: 7862413
url
https://doi.org/10.1016/S0161-6420(95)31029-9View
Published (Version of record) Open Access

Abstract

Mutations in the peripherin/retinal degeneration slow (RDS) gene have been identified in patients with retinitis pigmentosa and pattern macular dystrophy. The authors initially examined a large family affected with both peripheral and macular degeneration, inherited as an autosomal dominant trait. Screening for peripherin/RDS mutations identified a previously unreported nucleotide alteration in all of the affected individuals. Two additional families later were found to have this same mutation. DNA samples from the members of three unrelated families were screened for peripherin/RDS mutations by denaturing gradient gel electrophoresis of the polymerase chain reaction-amplified peripherin/RDS coding sequences. The sequence change that was detected was further characterized by DNA sequencing. Family members were examined and evaluated with psychophysical and electrophysiologic methods. A proline to arginine mutation in codon 210 of peripherin/RDS was found in all clinically affected individuals. Macular changes included extensive geographic atrophy, pigment epithelial changes, and/or drusen. The proline to arginine mutation was not found among 100 healthy individuals, making it unlikely to be a nondisease-causing polymorphism. The authors identified a novel peripherin/RDS gene mutation associated with autosomal dominant retinal degeneration in patients from three different families. The largest family showed a broad variability in the expressivity of the mutation. The overlap of clinical features with those of age-related maculopathy highlights the need to consider photoreceptor-specific genes as potential factors in the etiology of the latter condition.
 Phenotype Polymerase Chain Reaction Humans Middle Aged Molecular Sequence Data Male Proline - genetics DNA Mutational Analysis Visual Fields Arginine - genetics Base Sequence Intermediate Filament Proteins - genetics Adult Female Eye Proteins - genetics Membrane Glycoproteins Fluorescein Angiography Chromosome Deletion Amino Acid Sequence Peripherins Retinal Degeneration - genetics Electrophoresis, Polyacrylamide Gel Nerve Tissue Proteins Point Mutation Macular Degeneration - genetics Pedigree Adolescent Aged Retinal Degeneration - pathology Fundus Oculi Macular Degeneration - pathology

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