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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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Your Question

My best friend has juvenile retinoschisis. He is almost 16 and is already suffering from loss of vision. How does this condition affect a person's vision? What is the status of treatment and where do medical studies stand?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is juvenile retinoschisis?

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

How does juvenile retinoschisis affect vision?

People with juvenile retinoschisis begin to experience vision loss during childhood, in some cases as early as 3 months of age. At first, affected males have vision of 20/60 to 20/120. Their vision declines with age, but generally stabilizes after age 20. Visual sharpness remains unchanged in most people until their forties or fifties, when a significant decline in visual acuity typically occurs.[1]
Last updated: 2/23/2010

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).[2]

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.[2]

Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.[2]
Last updated: 12/22/2010

What treatment is available for juvenile retinoschisis?

There is no specific treatment for juvenile retinoschisis. Low vision services are designed to benefit those whose ability to function is compromised by impaired vision. Public school systems are mandated by federal law to provide appropriate education for children who have vision impairment. Surgery may be required to address the infrequent complications of vitreous hemorrhage and retinal detachment. Affected individuals should avoid high-contact sports and other activities that can cause head trauma to reduce risk of retinal detachment and vitreous hemorrhage.[1]
Last updated: 12/22/2010

How can I learn about research involving juvenile retinoschisis?

Researchers have created a mouse model of juvenile retinoschisis in order to study this condition. These mice are being studied to determine whether supplementation with normal retinoschisin protein can improve the structure and function of the retina. These studies to replace the missing protein been successful in mice, suggesting that, with additional research, gene therapy may become an option for treating people with juvenile retinoschisis.[1]

For resources where you may find research studies and clinical trials on juvenile retinoschisis, visit our section on Clinical Trials & Research.
Last updated: 2/23/2010