RS1

Retinoschisin (RS1), encoded by the RS1 gene, is a secreted retinal protein also known as X-linked retinoschisis protein. It maintains retinal structural integrity via mediating cell-cell adhesion and stabilizing the photoreceptor-bipolar cell interface, interacting with phospholipids and cell surface receptors to regulate junction-related signaling pathways.
Mutations in RS1 cause X-linked retinoschisis (XLRS), an inherited retinal dystrophy with foveal schisis and vision loss. Therapeutic advances include phase I/II gene replacement trials using AAV vectors to deliver functional RS1, and small molecules targeting downstream pathways to mitigate retinal damage, aiming to preserve visual function in XLRS patients.