Article
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Molecular vision - 1 Jan 2008
Lesch B, Szabó V, Kánya M, Somfai G M, Vámos R, Varsányi B, Pámer Zs, Knézy K, Salacz Gy, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A
Abstract excerpt
PURPOSE: To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS: This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography (OCT) and full-field and multifocal electroretinography...
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