X-Linked Retinoschisis (XLRS)

What is X-Linked Retinoschisis?

X-linked retinoschisis (XLRS) is an inherited disease that causes loss of central and peripheral vision due to degeneration of the retina. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision.

XLRS leads to vision loss due to the splitting of retinal layers, which leads to degeneration of photoreceptors. It is caused by mutations in the RS1 gene. The RS1 protein acts like an adhesive to hold the retinal layers together. It is estimated that about 35,000 people (mostly males) in the United States and Europe have the condition.

Symptoms

XLRS is typically diagnosed in childhood. The condition is typically diagnosed in childhood. One of the first signs of XLRS is loss of visual acuity that is not correctable. Vision loss is often progressive leading to legal blindness.

Cystic macular lesions (like blisters) in the retina are the hallmark feature of XLRS. While these lesions can increase retinal thickness, thereby exacerbating vision loss, they can be treated with medications including oral or topical carbonic anhydrase inhibitors; however, this does not treat the underlying genetic disease.
XLRS is almost entirely caused by mutations in RS1.

Inheritance

Females have two X chromosomes and can carry the disease gene on one of their X chromosomes. XLRS is an X-linked disease. This means that the mutated gene is found on the X chromosome. XLRS (and other X-linked diseases) affect mostly males. Because they have a healthy version of the gene on their other X chromosome, carrier females are less frequently affected by X-linked diseases.

Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to X-linked diseases. Males with X-linked diseases pass their Y chromosome to their sons, and therefore will never pass an X-linked disease to their sons. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.

Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.
Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.

Living with the Disease

There are many services and accommodative and assistive resources available to people and families with X-linked retinoschisis. Visit the Foundation’s Low Vision Resources page to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.

More information on living with XLRS is in the Newly Diagnosed section of this Web site.

Genetic Testing

Genetic testing is available for XLRS. It helps with attaining an accurate diagnosis and assessing the risk of passing the disorder from parent to offspring. A patient with an accurate diagnosis is in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.

Clinical Trials

View a list of current clinical trials, many made possible by Foundation support

XLRS page at www.ClinicalTrials.gov.

Resource Download

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The information provided by the Foundation Fighting Blindness is for educational purposes only and is not intended as medical advice. Some of the information provided has been obtained from widely used third-party public sources, but the Foundation is unable to independently verify the accuracy of all of such information. The Foundation does not endorse any specific treatment, product, clinical trial, company, or provider, including those mentioned in our content or featured through our partners and sponsors. Every person's condition is unique. Please talk with your qualified eye care professional about the treatment options that are right for you.