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NovelXLRS1gene mutations cause X-linked juvenile retinoschisis in Chinese families

✍ Scribed by Xiang Ma; Xiaoxin Li; Lihua Wang

Publisher: Springer
Year: 2008
Tongue: English
Weight: 273 KB
Volume: 52
Category: Article
ISSN: 0021-5155
DOI: 10.1007/s10384-007-0488-4

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The XLRS1 gene (HUGO-approved symbol, RS1) has been found to cause X-linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 1