X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms

URN to cite this document:: urn:nbn:de:bvb:355-epub-360284
DOI to cite this document:: 10.5283/epub.36028

Molday, R. S. ; Kellner, U. ; Weber, Bernhard H. F.

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Date of publication of this fulltext: 25 Jul 2017 06:13

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Abstract

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major ...