We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A common NYX mutation in Flemish patients with X linked CSNB.
- Authors
Leroy, B P; Budde, B S; Wittmer, M; De Baere, E; Berger, W; Zeitz, C
- Abstract
The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. It is characterised 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.
- Publication
The British journal of ophthalmology, 2009, Vol 93, Issue 5, p692
- ISSN
1468-2079
- Publication type
Journal Article
- DOI
10.1136/bjo.2008.143727