Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

Am J Ophthalmol. 1996 Jun;121(6):623-9. doi: 10.1016/s0002-9394(14)70627-0.


Purpose: Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases of central areolar choroidal dystrophy for mutations in the peripherin/RDS gene.

Methods: DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy.

Results: An Arg-142-Trp mutation in the peripherin/RDS gene was found in ten affected family members in seven families. Among these, a 69-year-old man with the Arg-142-Trp mutation, who was unaffected six years before blood sample analysis, showed a parafoveal area of chorioretinal atrophy. The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. No mutation was found in the four sporadic cases.

Conclusion: Autosomal dominant central areolar choroidal dystrophy, studied in seven families, is caused by an Arg-142-Trp mutation in the peripherin/RDS gene.

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Arginine / genetics
  • Base Sequence
  • Choroid Diseases / etiology
  • Choroid Diseases / genetics*
  • Choroid Diseases / pathology
  • Codon / genetics*
  • DNA / analysis
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Eye Proteins / genetics*
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Molecular Sequence Data
  • Nerve Tissue Proteins*
  • Pedigree
  • Peripherins
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinal Degeneration / genetics
  • Tryptophan / genetics


  • Codon
  • DNA Primers
  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • Tryptophan
  • DNA
  • Arginine