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Diseases

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
More Names
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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]


References

  1. Sieving PA, MacDonald IM, Meltzer MR, Smaoui N. X-Linked Juvenile Retinoschisis. GeneReviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=retinoschisis. Accessed February 23, 2010.
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  • Genetics Home Reference (GHR) contains information on Juvenile retinoschisis. Click on the link to go to GHR and review the information.
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  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Juvenile retinoschisis. Click on the link to go to OMIM and review these resources.