Article
A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
The British journal of ophthalmology - 1 Feb 2005
Michaelides M, Holder G E, Hunt D M, Fitzke F W, Bird A C, Moore A T
Abstract excerpt
AIM: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. METHODS: Eight members of a four generation, non-consanguineous British family were examined clinically and underwent electrophysiological testing, automated dark adapted perimetry, dark adaptometry, colour vision assessment, colour fundus photography, fundus fluorescein...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.