A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family

Abstract

PurposeX-linked juvenile retinoschisis (XLRS), a leading cause of juvenile macular degeneration, is characterized by a spoke-wheel pattern in the macular region of the retina and splitting of the neurosensory retina. This study aimed to identify the underlying genetic defect in a Chinese family with XLRS.MethodsThe proband underwent complete ophthalmic… (More)
DOI: 10.1038/eye.2014.196

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