Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene

Arch Ophthalmol. 2003 Oct;121(10):1458-61. doi: 10.1001/archopht.121.10.1458.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Arginine / genetics*
  • Choroid Diseases / diagnosis
  • Choroid Diseases / genetics*
  • Codon
  • Electroretinography
  • Fluorescein Angiography
  • Genes, Dominant
  • Humans
  • Intermediate Filament Proteins / genetics*
  • Leucine / genetics*
  • Male
  • Membrane Glycoproteins*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Peripherins
  • Point Mutation*

Substances

  • Codon
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • PRPH2 protein, human
  • Peripherins
  • Arginine
  • Leucine