Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene

Retina. 2001;21(1):78-80. doi: 10.1097/00006982-200102000-00019.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Electroretinography
  • Eye Diseases, Hereditary / genetics*
  • Eye Diseases, Hereditary / physiopathology
  • Eye Proteins / genetics*
  • Genetic Linkage / genetics*
  • Humans
  • Male
  • Mutation*
  • Polymerase Chain Reaction
  • Retina / physiopathology
  • Retinal Diseases / genetics*
  • Retinal Diseases / physiopathology
  • Tomography
  • Visual Acuity
  • X Chromosome / genetics*

Substances

  • Eye Proteins
  • RS1 protein, human