X-Linked Retinoschisis

X-linked retinoschisis is a rare inherited condition in which the retina splits into layers, affecting central vision from childhood and almost always occurring in males.

Common symptoms

Reduced central vision noticed in childhood, difficulty with reading and detailed tasks, and sometimes floaters, flashes, or further vision loss if complications develop.

Description

X-linked retinoschisis is caused by changes in the RS1 gene, which affects a protein that helps hold the layers of the retina together. As a result, the retina splits into layers, most commonly at the macula, leading to reduced central vision.

The condition is usually diagnosed in boys of school age, often during an eye test for reading difficulties. Vision tends to remain relatively stable, although in some cases complications such as vitreous haemorrhage or retinal detachment can cause sudden changes and need urgent assessment.

There is no routine cure, but some people benefit from medicines that reduce fluid at the macula, and low vision aids can help with reading and study. Regular specialist review is important, and research into gene therapies is progressing.