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X-Linked Retinoschisis

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X-linked retinoschisis (XLRS) is a genetic disorder that causes vision loss and begins in early childhood—the disease is sometimes called “juvenile retinoschisis” due to its early onset. As with other X-linked disorders, such as choroideremia, the condition occurs almost exclusively in males. Most cases of the disease involve a mutation of the RS1 gene, which is located on the X chromosome, and since males generally have two different kinds of chromosomes (XY), a single mutation of RS1 will lead to the disease. Females have two of the same kind of chromosome (XX), and as a result a spare version of RS1 on the additional X chromosome. In women, then, both copies of the gene must be mutated for the disease to manifest, which is significantly less likely. According to the National Institutes of Health, X-linked retinoschisis affects approximately 1 in 5000 to 1 in 25,000 men globally.[1]

The RS1 gene is responsible for the production of a protein called retinoschisin, which plays an important role in the health and functionality of the retina, the light-sensitive tissue at the back of the eye. Without enough retinoschisin, small splits or tears appear in the macula or along the outer edges of the retina (“retinoschisis” translates to “splitting of the retina”), often forming a wheel or spoke-like pattern that can make the retina abnormally thick. If tears appear in the macula, the central portion of the retina, central and high-acuity vision are impaired. If tears appear along the edges of the retina, on the other hand, peripheral vision is affected. Approximately half of those with X-linked retinoschisis experience a loss of central vision, the other half a loss of peripheral vision.

A minority of individuals with the disease do not have a mutated RS1 gene; for them, the genetic cause of the disorder is unknown. Work is underway to determine what genetic factors are at play in these cases.

Content on this page was written by Dr. Chad Andrews and Dr. Mary Sunderland, and was most recently updated on August 23, 2018. An earlier version of the content was approved by Dr. Kevin Gregory-Evans.

Tell Us What it’s Like to Live With X-linked retinoschisis

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