X-Linked Retinoschisis (XLRS)

What is x-linked retinoschisis (XLRS)?

X-linked retinoschisis is also frequently called juvenile retinoschisis because it begins in childhood. It is an inherited condition that occurs almost only in males.  X-linked retinoschisis is an eye condition that affects the retina. The retina lines the back of the eye and is a specialized, light-sensitive tissue. Damage to the retina causes visual acuity (sharpness of vision) impairment. The condition typically damages the macula the most, which is the central portion of the retina, causing problems with central vision. Central vision acuity is needed for doing detailed tasks such as driving, reading, and recognizing faces. In some cases, peripheral (side) vision may be affected as well. X-linked retinoschisis is considered a type of macular degeneration. People with this condition will usually see a decline in vision in their child and adolescent years and then stabilization into adulthood. There is usually another, more severe decline in one’s 50s or 60s, however.
This condition is inherited through an x-linked recessive pattern due to mutations on the RS1 gene, which is located on the X chromosome. Some early signs of this condition include strabismus (eyes don’t look in the same direction) and hyperopia (farsightedness). It is not usually diagnosed until problems with vision at school arise, but in severe cases signs such as squinting and nystagmus (involuntary eye movement) can appear in infancy.
X-linked retinoschisis can sometimes lead to severe complications such as retinal detachment or blood vessel leakage in the retina (vitreous hemorrhage), which can cause severe vision impairments or blindness. 
Risk factors
  • Gender (males are much more likely to have an x-linked recessive disorder than females)
  • Having a mother who is a carrier of the gene mutation that causes x-linked retinoschisis
To diagnose x-linked retinoschisis an eye examination using different tests will likely be done. Splitting of the retinal layers (schisis) is typically seen upon examination/imaging in people with XLRS. 
An electroretinogram test may be done to assess the function of the retina. Genetic testing can also be done to look for the RS1 gene mutation to confirm the diagnosis, or to look for the mutation in women to see if they are carriers. 
There is no cure for x-linked retinoschisis. Treatment is used to manage symptoms. Common treatments for this condition include:
  • Low-vision aids
  • Surgery (to correct any complications)
  • Genetic counseling for those affected and their families
  • Clinical trials
  • 1 in 5,000-25,000 men worldwide are estimated to be affected by x-linked retinoschisis 
  • Women who carry one mutated copy of the RS1 gene have a 50% chance of passing the mutation onto their children. Males who inherit this mutation will develop the disease while females will become carriers.
about x-linked retinoschisis (XLRS)

  • "X-linked Juvenile Retinoschisis.” National Institutes of Health U.S. National Library of Medicine. Genetics Home Reference, 15 Aug. 2017. Web. 18 Aug. 2017.
  • “Juvenile retinoschisis.” U.S. Department of Health & Human Services National Institutes of Health. National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center, 27 Feb. 2016. Web. 18 Aug. 2017. 
  • “X-linked Retinoschisis.” National Organization for Rare Disorders, n.d. Web. 18 Aug. 2017. 
  • “Congenital X-linked Retinoschisis.” American Society of Retina Specialists, n.d. Web. 18 Aug. 2017.
  • “Retinoschisis.” Foundation Fighting Blindness, n.d. Web. 18 Aug. 2017.


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