X-linked juvenile retinoschisis

What Is X-Linked Juvenile Retinoschisis?

X-linked juvenile retinoschisis is an inherited eye disorder that gives the inner layer of the retina a spoke-wheeled appearance, usually occurring in both eyes simultaneously. X-linked juvenile retinoschisis is caused by mutations in the RS1 gene. This condition primarily affects males due to the x-linked pattern of inheritance.

Males with the condition may have symptoms in early childhood but are often not diagnosed until they have their first visual screening prior to starting school. They usually have a vision of 20/60 to 20/120, with tiny lesions, splits, or cysts visible on their retinas. Less than 10% of individuals with the condition experience full retinal detachment or bleeding inside the eye, both of which can cause blindness.

For boys with this condition, vision may slowly worsen through the teenage years with stabilization occurring in the twenties. When they reach their forties and fifties, their vision may start to deteriorate again and many people with the condition eventually have a vision of 20/200 or worse, making them legally blind.

How Common Is X-Linked Juvenile Retinoschisis?

X-linked juvenile retinoschisis is estimated to affect 1 in every 5000 to 1 in 25,000 males.

How Is X-Linked Juvenile Retinoschisis Treated?

In general, treatment focuses on monitoring the progression of the disease and helping affected individuals learn to cope with poor vision. For example, children can use large-text books and high-contrast reading materials while adults can purchase special magnifiers, clocks, and adaptive software to help them at home and at work.

Since X-linked juvenile retinoschisis affects only the inner layers of the retina, surgery is rarely effective in treating the disease. However, surgery may help those with complete retinal detachment.

Specialists such as optometrists can help both children and adults make the most of the vision they have. Some individuals with the condition can get restricted driver's licenses if they wear special telescopic lenses behind the wheel, however, these lenses are not legal in all states.

Children under the age of 10 should see a pediatric ophthalmologist or retina surgeon every year. Older children and adults need less-frequent monitoring.

Individuals with X-linked juvenile retinoschisis should avoid contact sports and other activities that might cause a hard blow to the head. This minimizes the risk of retinal detachment or bleeding in the eye.

What Is the Prognosis for an Individual with X-Linked Juvenile Retinoschisis?

X-linked juvenile retinoschisis does not affect lifespan but does cause progressive vision problems that can result in legal blindness after middle age.