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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 sister's son has been diagnosed with juvenile retinoschisis, and she has been told she is a carrier.  What is the risk that I am a carrier and that my son has this condition?

Our Answer

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

How is juvenile retinoschisis inherited?

Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.[1]

In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.[2]
Last updated: 2/27/2016

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

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.