X-linked retinoschisis


X-linked retinoschisis (XLRS); Juvenile retinoschisis; Congenital retinoschisis; Juvenile macular degeneration/dystrophy; OMIM #312700.

Former terms: Neuroretinal disease in men; Congenital vascular veils in the retina; Vitreous veils.


X-linked retinoschisis (XLRS) is an inherited retinal disorder caused by mutations in the RS1 gene and characterized by a splitting of the neural retina which will eventually lead to decrease vision. The condition accounts for almost all congenital retinoschisis.

XLRS was first described in 1898 by J. Haas and documented as X-linked in 1913 by H. Pagenstecher.