A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
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DOI: 10.1080/13816810.2022.2154809
Abstract: ABSTRACT Background X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to… read more here.
Keywords: xlrs; retinal detachment; linked retinoschisis; patient ... See more keywords