Congenital Stationary Night Blindness

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 disorder can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.

 

> Ordering information for NGS panel

 

Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling

 

For further information:

Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness
Vaidla K, Uksti J, Zeitz C, Oitmaa E.
Methods Mol Biol. 2013;963:319-26.

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)