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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 and Weber, Bernhard H. F. (2008) 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 116 (2), pp. 97-109.

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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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Item type:Article
Date:2008
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s10633-007-9094-5DOI
17987333PubMed ID
Keywords:Full-field ERG; Fundus autofluorescence; Negative ERG; Optical coherence tomography; RS1 gene; X-linked congenital retinoschisis
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35853
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