This patient presented with mild bilateral central vision loss (only the right eye is pictured).
Typical findings in sex-linked retinoschisis include radiating foveal cystoid macular edema-type changes, which are much more pronounced on red-free imaging.
Although classically described as nerve fiber layer schisis (compared to outer plexiform splitting in degenerative schisis), macular OCT here shows splitting in the inner and outer nuclear layers.
Fluoroscein angiography (not pictured) would show no leakage, as the findings are due to a structural defect rather than exudation.
Learning Points:
X-linked retinoschisis is caused by a mutation in the RS1 gene, which is located on the X chromosome and encodes retinoschisin, a protein likely involved in retinal cell 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 reduce foveal thickness and possibly minimize foveal atrophy.
