David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneration in males. XLRS is characterized by abnormal splitting of the layers of the retina, resulting in poor visual acuity in young boys, which can progress to legal blindness in adult men.

The disease begins early in childhood and affected boys typically have best-corrected visual acuity of 20/60 to 20/120 at initial diagnosis. Severe complications such as retinal hemorrhage or retinal detachment occur in up to 40% of patients, especially in older individuals. There are currently no approved treatments for XLRS.