Congenital Stationary Night Blindness – CSNB
Congenital Stationary Night Blindness (CSNB) consists of a group of eye disorders clinically characterized by vision impairment under dim light conditions, nystagmus, refractive error, or retinal changes. Different types of the disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.
The genetic test has been developed for screening mutations in three forms of CSNB: autosomal dominant, autosomal recessive and X-linked CSNB. The genetic test can be used to screen 159 mutations in 11 genes: RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1 and TRPM1.
The CSNB test development and validation have been performed in collaboration with Dr. Christina Zeitz and Prof. Dr. Wolfgang Berger at the Division of Medical Molecular Genetics and Gene Diagnostics of the Institute of Medical Genetics at the University of Zurich (Switzerland).
ORDERING
Congenital Stationary Night Blindness – more info.
For further information:
Genotyping microarray for CSNB-associated genes
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova-Doumanova, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W
Investigative Ophthalmology and Visual Science, July 2, 2009
(Invest. Ophthalmol. Vis. Sci..2009; 0: iovs.09-3548v1)
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