Retinoschisin (RS)

Retinoschisin is an extracellular protein that plays a crucial role in the cellular organization of the retina. This protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex.Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.

Retinoschisis is intraretinal splitting due to degeneration. The abnormality may not be clinically manifest until middle life. Affected males show cystic degeneration leading to split in the retina, detachment of the retina, and finally complete retinal atrophy with sclerosis of the choroid. Cystic maculopathy is sometimes the only finding in these patients.