Article
An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
Investigative ophthalmology & visual science - 1 May 2003
Michaelides Michel, Johnson Samantha, Tekriwal Alok K, Holder Graham E, Bellmann Caren, Kinning Esther, Woodruff Geoffrey, Trembath Richard C, Hunt David M, Moore Anthony T
Abstract excerpt
PURPOSE: To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus. METHODS: Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken for DNA extraction,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.