Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene

Arch Ophthalmol. 2001 Oct;119(10):1553-4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electroretinography
  • Eye Proteins / genetics*
  • Fluorescein Angiography
  • Genetic Linkage / genetics*
  • Genotype
  • Humans
  • Japan / epidemiology
  • Male
  • Phenotype
  • Point Mutation*
  • Polymerase Chain Reaction
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / ethnology
  • Retinal Degeneration / genetics*
  • X Chromosome / genetics*

Substances

  • Eye Proteins
  • RS1 protein, human