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Ophthalmology and Visual Sciences

X-linked retinoschisis (XLRS)

BX-linked retinoschisis (XLRS)

Category(ies): Genetics, Retina, Vitreous
Contributor: Jesse Vislisel, MD
Photographer: Stefani Karakas, CRA

X-linked retinoschisis (XLRS) is an X-linked recessive condition caused by a mutation in the RS1 gene. It results in splitting of the foveal and sometimes peripheral neurosensory retina. Clinically, this appears as cystic spaces and radial striae in the central macula, as seen in these photographs. The splitting is even more apparent on OCT. Over time, patients with XLRS develop decreased acuity with a central scotoma as seen in these Goldmann visual fields.