Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene

Arch Ophthalmol. 1996 Jan;114(1):72-8. doi: 10.1001/archopht.1996.01100130068011.

Abstract

Objective: To characterize clinical findings associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Design: Case reports with clinical features and results of fluorescein angiography, electroretinography, kinetic visual field testing, and DNA analysis.

Setting: University medical center.

Patients: Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene.

Results: Characteristic features included the initial symptoms of decreased visual acuity, macular degeneration, central or paracentral scotoma, cone-mediated electroretinographic responses that were more impaired than rod-mediated responses, and pigmentary degeneration in the midperipheral retina in the late stage. These phenotypic features corresponded to cone-rod dystrophy type 2a by the classification of Szlyk and associates.

Conclusions: The Asn244His and Tyr184Ser mutations in the peripherin/RDS gene cause con-rod dystrophy type 2a. These findings imply that a mutation in codon 244 or codon 184 of the peripherin/RDS gene affects the functions and/or structural stability of cones and rods.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Asparagine
  • Base Sequence
  • Codon / genetics*
  • DNA / analysis
  • Electroretinography
  • Eye Proteins / genetics*
  • Female
  • Fluorescein Angiography
  • Histidine
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins / genetics
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Photoreceptor Cells / pathology*
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Serine
  • Tyrosine
  • Visual Fields

Substances

  • Codon
  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins
  • RDS protein, human
  • Tyrosine
  • Serine
  • Histidine
  • Asparagine
  • DNA