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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
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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 and in specialized cells within the retina that detect light and color (photoreceptor cells).[1]

RS1 gene mutations lead to a reduced amount 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. These abnormalities are typically seen in the area of the macula, affecting visual acuity, but can also occur in the sides of the retina, 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: 12/22/2010

References
  1. X-linked juvenile retinoschisis. Genetics Home Reference. August 2008; http://ghr.nlm.nih.gov/condition=xlinkedjuvenileretinoschisis. Accessed 2/23/2010.