Article
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
The British journal of ophthalmology - 1 Nov 2003
Allen L E, Zito I, Bradshaw K, Patel R J, Bird A C, Fitzke F, Yates J R, Trump D, Hardcastle A J, Moore A T
Abstract excerpt
AIM: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. METHODS: 11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was defined by clinical examination, psychophysical, and standardised electrophysiological testing. RESULTS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.