X-linked juvenile retinoschisis
Type of disease: Rare conditions
X-linked juvenile retinoschisis is a genetic eye disorder that causes vision loss in childhood that gets worse over time (progressive). X-linked juvenile retinoschisis is a form of macular degeneration, which is a condition that affects the part of the back of the eye (retina) that is important for detailed vision (macula). Symptoms of X-linked juvenile retinoschisis may vary, but the first sign is usually poor vision in school and trouble seeing words while reading. The poor vision progresses through teenage years, becomes stable during adulthood, and then significantly declines in a person’s fifties or sixties. Far-sightedness (hyperopia) and eyes that look in different directions (strabismus) are also quite common in affected individuals. Squinting and involuntary eye movements (nystagmus) can occur in infants with severe cases of the condition.
The disorder is caused by a change (mutation) in the RS1 gene and is inherited in an X-linked recessive way, which means it mostly affects men. Males have one X chromosome (one copy of the RS1 gene) and females have two X chromosomes (two copies of the RS1 gene). If a male has a mutation in his only copy of the gene, he does not have a working copy, causing the condition. If a female has a mutation in one of her two copies of her RS1 gene, she still has a working copy and will not show signs of the condition.
X-linked juvenile retinoschisis is usually diagnosed by an eye doctor (ophthalmologist) using a detailed eye and retinal exam. The diagnosis can be confirmed with genetic testing. There is no cure for X-linked juvenile retinoschisis. If your child has been diagnosed with this condition, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by juvenile-onset blindness.