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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man's fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern.[1][2] Low-vision aids can be helpful. Surgery may be needed for some complications.[1]
Last updated: 2/27/2016

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][2]
Last updated: 2/27/2016

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).[2]

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.[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: 2/27/2016

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: 2/27/2016

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 were originally studied to determine if supplementation with functional normal retinoschisin protein could improve the structure and function of the retina. These studies were successful in mice, suggesting that, with additional research, gene therapy may become an option for treating people with juvenile retinoschisis.[1]

Some research suggests that older mice have significantly less benefit from gene transfer when compared to younger mice. In addition, those with some residual RS1 protein expression may be better candidates for gene therapy.[1] 

Cell targeting and appropriate vector choices appear to be very important to the success of retinal gene therapy. For instance, in one study, photoreceptor cell secretion of retinoschisin produced the best long-term rescue.[1]

Another therapeutic option involves in vivo directed evolution of adeno-associated virus (AAV) variants to deliver the wildtype gene to the outer retina after injection to the vitreous humor of the eye. This method may have the potential to be broadly applicable as a gene delivery method for inherited retinal diseases.[1]

Because of the drawbacks associated with using viral vectors (risk of developing cancer, over-activation of the immune system, or persistence of such vectors in the brain after intravitreal injection), some researchers have looked at non-viral systems. This work suggests that non-viral vectors may be useful in treating juvenile retinoschisis, other degenerative retinal diseases, and ocular surface diseases as well.[1]

Visit GeneReviews to access additional details related to these studies.

For resources where you may find research studies and clinical trials on juvenile retinoschisis, visit our section on Research, including the link to ClinicalTrials.gov
Last updated: 2/28/2016

References
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.