Article
[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Aug 2004
Kellner U, Wissinger B, Kohl S, Kraus H, Foerster M H
Abstract excerpt
PURPOSE: This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction. METHODS: In this study 28 patients underwent a basic ophthalmologic examination. Except for a 1-year-old boy, color vision, perimetry, and full-field ERG (ISCEV standard) were evaluated in all patients. Blood samples were taken for molecular genetic analysis of the CNGA3, CNGB3, or GNAT2 genes....
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