Juvenile retinoschisis

Disease Overview

Juvenile retinoschisis is an eye condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. The condition affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. This affects the sharpness of vision. Central vision is more commonly affected. Vision often deteriorates early in life, but then usually becomes stable until late adulthood. A second decline in vision typically occurs in a man’s fifties or sixties. Sometimes severe complications occur, including separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These can lead to blindness. Juvenile retinoschisis is caused by mutations in the RS1 gene. It is inherited in an X-linked recessive pattern.[2067][2068] Low-vision aids can be helpful. Surgery may be needed for some complications.[2067]

Synonyms

• X-linked juvenile retinoschisis
• XJR
• X-linked retinoschisis
• Retinoschisis X-linked
• Retinoschisis juvenile X chromosome-linked