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Genotyping Microarray for CSNB-Associated Genes
Author(s) -
Christina Zeitz,
Stephan Labs,
Birgit Lorenz,
U. Förster,
Janne Üksti,
Hester Y. Kroes,
Elfride De Baere,
Bart P. Leroy,
Frans P.M. Cremers,
Mariana Wittmer,
Maria M. van Genderen,
JoséAlain Sahel,
Isabelle Audo,
Charlotte M. Poloschek,
Saddek MohandSaïd,
Johannes Fleischhauer,
Ulrike Hüffmeier,
Veselina MoskovaDoumanova,
Alex V. Levin,
Christian P. Hamel,
Dorothee Leifert,
Francis L. Munier,
Daniel F. Schorderet,
Eberhart Zrenner,
Christoph Friedburg,
Bernd Wissinger,
Susanne Kohl,
Wolfgang Berger
Publication year - 2009
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.09-3548
Subject(s) - genetics , genotyping , mutation , biology , gene , microarray , computational biology , genotype , gene expression
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of inheritance, and time-consuming and costly mutation scanning and direct sequencing approaches.

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