The Retina Reference

X-Linked Retinoschisis - Advanced Case

This 68-year-old patient presented with blurred and distorted vision in both eyes. He was diagnosed with X-linked Retinoschisis in 1988. This condition has X-linked inheritance meaning that it is transmitted by carrier females and affects males. It is caused by a mutation in the RS1 gene that codes for retinoschisin a protein involved in regulating the extracellular matrix of the retina. His vision was count fingers at 6 ft in both eyes. Fundus autofluorescence images showed hypoautofluorescent zones where the retinal pigment epithelium (RPE) had atrophied over time (yellow arrows). Blue arrows point to other zones of atrophy in the periphery of both eyes. Optical coherence tomography scans reflected these findings as there was no visible RPE layer (red arrows). This is an example of an advanced case of x-linked retinoschises. There is currently no treatment for this disease at this time. Visual aids and other supporting tools are recommended to help with daily activities.