This 24YO male has bilateral 20-80 vision and foveal schisis.
B-scan OCTs show schisis mostly in the inner nuclear layer and en face OCTs show a cool perspective for this mid-retinal schisis. There is also an unusual funnel-shaped vitreous veil floating over the right fovea.
Learning Points:
Sex-linked retinoschisis is caused by a mutation of the RS1 gene which is located on the X chromosome and encodes for retinoschisin, a protein likely involved in retinal cellular adhesion.
Although usually transmitted as an X-linked recessive disorder found in males, it can also sometimes affect females.
Over time, the macular schisis flattens with secondary atrophy. Vision usually levels off at about 20/100. Patients can develop spontaneous vitreous hemorrhage and rhegmatogenous retinal detachment from peripheral schisis.
Although there is no specific treatment, topical carbonic anhydrase inhibitors may decrease the foveal thickness and possibly help minimize foveal atrophy (see Andreuzzi et al Retina 2017;37:1555-1561).
