Article
Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
Investigative ophthalmology & visual science - 1 Aug 2010
Mizrahi-Meissonnier Liliana, Merin Saul, Banin Eyal, Sharon Dror
Abstract excerpt
PURPOSE: To examine the involvement of the long (L) and middle (M) wavelength-sensitive cone opsin genes in cone-dominated phenotypes. METHODS: Clinical and molecular analyses included family history, color vision testing, full-field electroretinography (ERG), linkage analysis, and mutation detection. RESULTS: Eighteen families were recruited that had X-linked retinal disease characterized by cone impairment in...
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