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Genetic and Rare Diseases Information Center (GARD)

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Juvenile retinoschisis


Other Names for this Disease

  • Retinoschisis juvenile X chromosome-linked
  • Retinoschisis X-linked
  • X-linked juvenile retinoschisis
  • X-linked retinoschisis
  • XJR
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Overview

Juvenile retinoschisis is an eye condition that begins to affect vision before age 10. This condition occurs almost exclusively in males. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. Juvenile retinoschisis is caused by mutations in the RS1 gene, and this condition is inherited in an X-linked recessive pattern.[1]
Last updated: 2/23/2010

References

  1. Sieving PA, MacDonald IM, Meltzer MR, Smaoui N. X-Linked Juvenile Retinoschisis. GeneReviews. May 12, 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=retinoschisis. Accessed 2/23/2010.
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  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile retinoschisis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Retinoschisis juvenile X chromosome-linked
  • Retinoschisis X-linked
  • X-linked juvenile retinoschisis
  • X-linked retinoschisis
  • XJR
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.