Article
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Aug 2000
Eksandh L C, Ponjavic V, Ayyagari R, Bingham E L, Hiriyanna K T, Andréasson S, Ehinger B, Sieving P A
Abstract excerpt
OBJECTIVE: To describe the clinical phenotype of juvenile X-linked retinoschisis in patients with different mutations in the XLRS1 gene. METHODS: Thirty patients with 7 different XLRS1 mutations were examined. The genotype was determined by molecular genetics, which identified 6 known and 1 novel mutation (exon 5, 489 G-->T). Ophthalmologic examination included full-field electroretinogram (ERG) recordings....
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