Research Notes on X Linked Juvenile Retinoschisis
X-linked juvenile retinoschisis (XJR) is a genetic disorder affecting males. Major symptoms include poor eyesight and degeneration of the retina. Retinoschisis is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts of the fields of vision corresponding to the areas of the retina that have become split.1 XLRS1 is the gene responsible for XJR. This gene encodes a 224 amino acid protein retinoschisin. Defective or absent retinoschisin may reduce adhesion of the retinal layers, resulting in the creation of schisis cavities.2
Fast Facts:
Top Resources on X Linked Juvenile Retinoschisis
- Healthwise (via BCHealth): X linked Juvenile Retinoschisis
- Orpha.net: X Linked Juvenile Retinoschisis
- eMedicine: Retinoschisis, Juvenile
- University of Michigan Kellogg Eye Center: Retinoschisis
- PubMed: X-Linked Juvenile Retinoschisis
- Digital Reference of Ophthalmology: Hereditary / Congenital
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Research Notes References
- ↑ Healthwise (via BCHealth): X linked Juvenile Retinoschisis
- ↑ 2.0 2.1 2.2 eMedicine: Retinoschisis, Juvenile: Introduction
- ↑ University of Michigan Kellogg Eye Center: Retinoschisis: Definition
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About this WisdomCard
- Contributor: Madeleine Paladar
- Reviewer: Nicole Kinsey
- Supervised by: The OrganizedWisdom Physician Review Team
- Last update: Oct. 2, 2008
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