Article
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2002
Jacobi Felix K, Andréasson Sten, Langrova Hana, Meindl Alfons, Zrenner Eberhart, Apfelstedt-Sylla Eckart, Pusch Carsten M
Abstract excerpt
PURPOSE: To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene. METHODS: The clinical and genetic data from 18 male patients with eight different mutations from two ophthalmological institutes were reviewed. The variability in refractive error, reduced visual acuity and full-field electroretinogram (ERG)...
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