X-linked juvenile retinoschisis (XLRS)

It is a rare X-linked inherited retinal disease that typically affects males.

Mutations of the RS1 gene are responsible for XLRS, which affects Retinoschisin that is responsible for cell to cell adhesion and interaction.

In XLRS, a splitting in all retinal layers tissues occurs, which appears as tubular cystic changes on OCT, and clinically presented as Stellate cystic-appearing splitting when affecting the fovea.

Also, the gene therapy is under development; carbonic Anhydrase inhibitor may show some improvement on OCT.

Fundus image of X-linked juvenile retinoschisis (XLRS)

Please check the clinical guidelines for X-linked Foveal Retinoschisis

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