X-Linked Juvenille Retinoschisis

 

X-Linked Juvenile Retinoschisis (JRS) is a disease that affects only males and usually presents in childhood. Patients usually present with mild vision loss at age 5 to 10 years and a nearly normal appearing retina.  Sometimes children with JRS will develope a vitreous hemorrhage and present with sudden vision loss in one eye.  As they grow older, cysts in the macula and retinoschisis (splitting) of the peripheral (side) retina becomes visible (see photos on right).  Young children usually have foveal cysts visible with OCT scanning even when they are not visible ophthalmoscopically (by looking at them).

 

Because the disease is rare, there are not any proven therpies for vision loss in these patients.  Some doctors have tried topical or oral carbonic anhydrase inhibitors (acetazolamide, dorzolamide) for the foveal cysts.  In the rare event that peripheral retinoschisis is progressing from the side retina into the macula and threatening the central vision, vitrectomy surgery can be attempted.