X-linked juvenile retinoschisis is an eye disorder that runs in families and makes the inner part of the retina look like a spoke wheel. This usually happens in both eyes at the same time. It mostly affects boys because of how it’s passed down in families.
Boys with this condition might start having problems with their vision when they’re little, but they often get diagnosed when they have their first eye check before school. They usually see things at 20/60 to 20/120, and there are small issues like lesions or splits on their retinas. Less than 10% of people with this condition have their retina completely detach or have bleeding inside the eye, which can make them go blind.
For boys with this condition, their vision might slowly get worse when they’re teenagers, but it stabilizes when they’re in their twenties. When they’re in their forties or fifties, their vision might start getting worse again, and many end up with a vision of 20/200 or worse, which is legally blind. Right now, there’s no cure, so the focus is on keeping an eye on how the disease is changing and helping people deal with not-so-good vision. For example, kids can use big-text books, and grown-ups can get special magnifiers, clocks, and computer programs to help them at home and work.
Because X-linked juvenile retinoschisis only affects the inner layers of the retina, surgeries usually don’t work well. But for those with a fully detached retina, surgery might be helpful.
X-linked juvenile retinoschisis is caused by pathogenic variants in the RS1 gene exhibit X-linked recessive inheritance. This means that one pathogenic variant is enough to cause the disease in both males (who have one X chromosome and one Y chromosome) and females (who have two X chromosomes) may experience symptoms depending on how many copies of the X chromosome that has the pathogenic variant are turned on in the cells.
Other names for this condition are congenital X-linked retinoschisis and degenerative retinoschisis.
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Revised November 2023
