Juvenile X-Linked Retinoschisis: Ocular Genetic Studies

Juvenile X-linked retinoschisis (JXLR, OMIM 312700) is an inherited retinal disorder characterized by X-linked inheritance, primarily affecting males and leading to severe vision loss starting in childhood. The diagnosis is established through characteristic clinical findings, imaging features, and genetic analysis. Although there is no definitive cure, both medical and surgical treatment options are used with varying degrees of benefit. The lack of a curative treatment has prompted the exploration of gene therapy. Currently, there is no approved gene therapy available, but numerous clinical trials are ongoing.