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X-Linked Retinoschisis

Jump to: Cause & Inheritance | Symptoms | Diagnosis | Treatment & Care | Research & Clinical Trials | Resources | References

Overview

X-linked retinoschisis (XLRS) is a rare genetic eye disease that causes vision loss, mostly in males. It is often diagnosed in childhood and can also be referred to as juvenile retinoschisis. 

XLRS affects about 1 in every 5,000 to 25,000 males worldwide and is a type of inherited retinal disease (IRD). [1] 

CAUSE & INHERITANCE

XLRS is caused by a change (mutation) in a gene called retinoschisin or RS1. RS1 is found on the X chromosome. Males have one X and one Y chromosome (XY), so if their only copy of the RS1 gene is mutated, they will have XLRS. Females have two X chromosomes, so if one copy of the RS1 gene is mutated, the other copy usually compensates for it. Because of this, XLRS almost always affects males and is called an X-linked disease. In rare cases, females with two damaged RS1 genes may also have symptoms.  

The RS1 gene makes a protein called retinoschisin, which helps the retina maintain its structure and stay healthy. The retina is a thin layer of tissue at the back of the eye that senses light and sends visual signals to the brain. If there isn’t enough retinoschisin, the retina can split or tear. This damages the photoreceptors—special cells in the retina that turn light into messages for the brain.  

In some rare cases, people have XLRS even though the RS1 gene is not mutated. Scientists are still working to understand why this happens. 

Symptoms

Signs of XLRS usually start around school age. The most common symptoms are: 

• Trouble seeing clearly or in detail 
• Vision loss: If the macula is damaged, it becomes hard to see clearly in the center of your vision. If the outer part of the retina is damaged, you may lose your side (peripheral) vision. About half of people with XLRS lose central vision, while the other half lose peripheral vision. 
• Eye movement problems like: 
  • Nystagmus (eyes move quickly side to side) 
  • Strabismus (crossed eyes) 

Sometimes, XLRS is confused with lazy eye (amblyopia) because of these symptoms.  

Vision usually stabilizes in early adulthood but may get worse after age 50 or 60. Total blindness is rare, but serious problems like retinal detachment or bleeding inside the eye can happen. 

Women who carry mutations that cause XLRS usually don’t have symptoms, but some may lose peripheral vision later in life. 

Diagnosis

An eye doctor might see signs of XLRS during a regular eye exam. Some tests help confirm the diagnosis: 

• ERG (electroretinography): Measures how the retina responds to light using special contact lenses and flashing lights. 
• OCT (optical coherence tomography): Takes detailed pictures of the retina to show any tears or splits. 
• Visual field test: Shows which parts of your vision are missing by testing where you can and can’t see flashes of light. 
• Genetic counselling: Helps families understand the genetic cause and how it may affect other family members. If there is a mutation in the RS1 gene, genetic testing is able to identify it with a high degree of accuracy, approximately 95% of the time. 

Treatment & CARE

There is currently no cure or treatment to slow or stop vision loss for XLRS. However, scientists are now testing gene therapies specifically for XLRS in clinical trials. 

One of the symptoms of XLRS is cystic macular lesions, which are like small blisters in the retina. The lesions can only be seen by doing diagnostic tests with an eye doctor. These blisters can make the retina thicker and cause more vision loss.  They can sometimes be treated with medications, including pills or eye drops called carbonic anhydrase inhibitors. 

RESEARCH & Clinical Trials

Many research groups are working to develop new treatments for XLRS specifically and inherited retinal diseases more broadly. This includes treatments that protect the retina from further damage, correct the underlying genetic mutation, and even restore vision when it has already been lost. 

Some of the most promising areas of research include: 

• Gene Therapy: Researchers are testing gene therapies that deliver a healthy copy of the RS1 gene into retinal cells. Several clinical trials are underway to see if gene therapy can prevent or slow vision loss in people with XLRS. 
• Stem cell therapy: Clinical trials are studying retinal cells made from stem cells to see if they can restore vision in people with retinal degenerative diseases like XLRS. 
• Optogenetic therapy: This therapy helps people who have lost most of their photoreceptor cells. Special genes called opsins are injected into the eye to turn non-light-sensitive cells into light-detecting ones.  
• Visual Protheses: A bionic eye, also called a visual prosthesis, is an electrical implant that is surgically inserted into the eye. It improves light sensitivity and creates a sense of vision for people who have advanced vision loss. Most of the devices being developed are for individuals who have retinal degeneration.  

Discover more information on clinical trials for XLRS. 

Resources

Fighting Blindness Canada has developed resources to help you navigate vision care. Follow the links below to learn more.  

• Sign up for our e-newsletter to keep up to date on the latest breakthroughs and community events.   
• Contact our Heath Information line by email or phone to ask questions about your eye health.  
• Hear about the latest in vision research and connect with others at our View Point educational series  
• Learn about genetic testing and join our Inherited Retinal Disease Patient Registry to connect with clinical trials and treatments.  
• Discover more information on clinical trials for XLRS. 
• Learn more about all of Fighting Blindness Canada’s funded research. 

References

[1] https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis#statistics

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Updated on April 9, 2025