Article
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
The British journal of ophthalmology - 1 Aug 2008
Kitiratschky V B D, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H
Abstract excerpt
AIM: To describe the detailed phenotypes of a multi-generation family affected by autosomal dominant cone-rod dystrophy (adCRD) and characterised by marked intrafamilial heterogeneity, due to a novel frameshift mutation in the CRX gene. METHODS: Six affected and two unaffected family members underwent detailed ophthalmological examination as well as psychophysical and electrophysiological testing. Mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.