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

Ophthalmology. 1995 Feb;102(2):246-55. doi: 10.1016/s0161-6420(95)31029-9.


Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Sequence
  • Arginine / genetics
  • Base Sequence
  • Chromosome Deletion
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Eye Proteins / genetics*
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Macular Degeneration / genetics*
  • Macular Degeneration / pathology
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proline / genetics
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Visual Fields


  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • Arginine
  • Proline