Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene

Hum Genet. 1998 Aug;103(2):142-4. doi: 10.1007/pl00008705.


We investigated the XLRS1 gene in Japanese patients with retinoschisis (RS). All exons of the XLRS1 gene were sequenced in 14 males, including a pair of monozygotic twins, from 11 individual families with RS and five of their mothers who are asymptomatic but diagnosed as carriers. Six kinds of missense mutations and a nonsense mutation, including six novel mutations, were detected in all 14 patients and carriers. Mutations in the XLRS1 gene are also responsible for RS in non-Caucasian patients. Most Japanese RS cases are caused by an XLRS1 gene defect. A novel mutation, Glu72Lys, was found in four families, suggesting a common mutation in the Japanese population. Clinical features of RS patients with both the Glu72Lys and Pro193Leu mutations indicate that a genotype-phenotype correlation is not recognized in RS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Eye Diseases, Hereditary / genetics*
  • Eye Proteins / genetics*
  • Female
  • Humans
  • Japan
  • Male
  • Mutation*
  • Pedigree
  • Retinal Degeneration / genetics*


  • Eye Proteins
  • RS1 protein, human