X-Linked Retinoschisis (XLRS)
XLRS leads to vision loss due to the splitting of retinal layers. It is caused by mutations in the retinoschisin (RS1) gene. The RS1 protein is thought to act like a "glue" to hold together the retina.
As an X-linked condition, usually males are affected. Females are usually unaffected carriers. The condition is typically diagnosed in boys (i.e., before adulthood) and can lead to significant vision loss, including significantly reduced visual acuity.
Applied Genetic Technologies Corporation (AGTC) is currently conducting a gene-therapy clinical trial for people with XLRS at nine clinical centers in the U.S.
Cystoid macular edema (swelling) is a common complication of XLRS, but can often be treated with carbonic anhydrase inhibitors or other therapeutic approaches.