A common NYX mutation in Flemish patients with X-linked CSNB

Aims: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. It is characterized by a non-progressive disease course, often associated with high myopia and nystagmus. So far mutations in two genes, NYX (nyctalopin) and GRM6 (metabotropic glutamate receptor 6) have been associated with this form of CSNB. The purpose of this study was to identify the genetic defect in affected male patients from Flemish families with complete CSNB. Methods: Probands with CSNB from 3 large Flemish families underwent ophthalmologic exa... Mehr ...