Article
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Documenta ophthalmologica. Advances in ophthalmology - 1 Mar 2008
Renner Agnes B, Kellner Ulrich, Fiebig Britta, Cropp Elke, Foerster Michael H, Weber Bernhard H F
Abstract excerpt
PURPOSE: X-linked congenital retinoschisis (RS) is a relatively frequent retinal dystrophy associated with RS1 gene mutations. A negative electroretinogram (ERG), i.e., a b/a wave ratio <1.0 in the standard combined response, is considered a key diagnostic feature of RS. Only a few cases without a negative ERG have been reported. METHODS: This study includes 24 RS patients with RS1 mutations. ERGs (according to...
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