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Genetics Home Reference: your guide to understanding genetic conditions
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X-linked juvenile retinoschisis

Reviewed August 2008

What is X-linked juvenile retinoschisis?

X-linked juvenile retinoschisis is a genetic eye disorder that impairs normal vision. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity). Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which involves disruption in the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.

X-linked juvenile retinoschisis occurs almost exclusively in males. It is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) can be seen in infancy. Visual acuity remains unchanged in most people between their teenage years and their forties or fifties, when a significant decline in visual acuity typically occurs. Rarely, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can cause impaired vision or blindness.

How common is X-linked juvenile retinoschisis?

The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in 5,000 to 25,000 males worldwide.

What genes are related to X-linked juvenile retinoschisis?

Mutations in the RS1 gene cause most cases of X-linked 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).

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.

Some individuals with X-linked juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.

Related Gene(s)

Changes in this gene are associated with X-linked juvenile retinoschisis.

  • RS1

How do people inherit X-linked juvenile retinoschisis?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about diagnosis or management of X-linked juvenile retinoschisis?

These resources address the diagnosis or management of X-linked juvenile retinoschisis and may include treatment providers.

  • Gene Review: X-Linked Juvenile Retinoschisis (http://www.ncbi.nlm.nih.gov/books/NBK1222/)
  • Genetic Testing Registry: Juvenile retinoschisis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0271091)

You might also find information on the diagnosis or management of X-linked juvenile retinoschisis in Educational resources (http://www.ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about X-linked juvenile retinoschisis?

You may find the following resources about X-linked juvenile retinoschisis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for X-linked juvenile retinoschisis?

  • congenital X-linked retinoschisis
  • juvenile retinoschisis
  • Retinoschisis, Degenerative
  • Retinoschisis, Juvenile, X-Linked
  • X-Linked Retinoschisis

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about X-linked juvenile retinoschisis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding X-linked juvenile retinoschisis?

cell ; chromosome ; congenital ; degenerative ; electroretinogram ; gene ; hemorrhage ; inheritance ; involuntary ; juvenile ; macula ; mutation ; nystagmus ; peripheral ; photoreceptor ; prevalence ; protein ; recessive ; retina ; sex chromosomes ; teenage ; tissue ; visual acuity ; X-linked recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina. 2005 Jul-Aug;25(5):612-8. (http://www.ncbi.nlm.nih.gov/pubmed/16077359?dopt=Abstract)
  • Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. 2007 Jun 7;13:804-12. (http://www.ncbi.nlm.nih.gov/pubmed/17615541?dopt=Abstract)
  • Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005 Jun;42(6):e35. (http://www.ncbi.nlm.nih.gov/pubmed/15937075?dopt=Abstract)
  • Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina. 2006 Sep;26(7 Suppl):S61-4. (http://www.ncbi.nlm.nih.gov/pubmed/16946682?dopt=Abstract)
  • Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17172462?dopt=Abstract)
  • Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003 Jul 25;278(30):28139-46. Epub 2003 May 13. (http://www.ncbi.nlm.nih.gov/pubmed/12746437?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2008
Published: July 7, 2014