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Diseases

Genetic and Rare Diseases Information Center (GARD)

Juvenile retinoschisis


Other Names for this Disease
  • X-linked juvenile retinoschisis
  • XJR
  • X-linked retinoschisis
  • Retinoschisis X-linked
  • Retinoschisis juvenile X chromosome-linked
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Cause

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What causes juvenile retinoschisis?

Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together).[1]

RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision.[1]

Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.[1]
Last updated: 2/27/2016

References
  1. X-linked juvenile retinoschisis. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis.


Other Names for this Disease
  • X-linked juvenile retinoschisis
  • XJR
  • X-linked retinoschisis
  • Retinoschisis X-linked
  • Retinoschisis juvenile X chromosome-linked
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.