1. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
- Author
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Gorin, MB, Jackson, KE, Ferrell, RE, Sheffield, VC, Jacobson, SG, Gass, JD, Mitchell, E, and Stone, EM
- Subjects
Fundus Oculi ,Humans ,Retinal Degeneration ,Macular Degeneration ,Chromosome Deletion ,Intermediate Filament Proteins ,Arginine ,Proline ,Eye Proteins ,Membrane Glycoproteins ,Nerve Tissue Proteins ,Fluorescein Angiography ,Electrophoresis ,Polyacrylamide Gel ,Polymerase Chain Reaction ,Pedigree ,DNA Mutational Analysis ,Amino Acid Sequence ,Base Sequence ,Visual Fields ,Phenotype ,Point Mutation ,Molecular Sequence Data ,Adolescent ,Adult ,Aged ,Middle Aged ,Female ,Male ,Peripherins ,Electrophoresis ,Polyacrylamide Gel ,Ophthalmology & Optometry ,Clinical Sciences ,Opthalmology and Optometry ,Public Health and Health Services - Abstract
BackgroundMutations 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.MethodsDNA 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.ResultsA 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.ConclusionsThe 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.
- Published
- 1995