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ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT

Renner, A. B. ; Kellner, U. ; Fiebig, B. ; Cropp, E. ; Foerster, M. H. ; Weber, Bernhard H. F.



Abstract

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 ...

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