Article
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
The British journal of ophthalmology - 1 Nov 2016
Hull Sarah, Holder Graham E, Robson Anthony G, Mukherjee Rajarshi, Michaelides Michel, Webster Andrew R, Moore Anthony T
Abstract excerpt
BACKGROUND/AIMS: To present detailed phenotypic and molecular findings in four patients from four families with atypical, mild, recessive RPE65-related retinal dystrophy and discuss potential implications for gene replacement therapy. METHODS: Four patients from four families with early onset retinal dystrophy underwent clinical examination, retinal imaging and electrophysiological testing. Bidirectional Sanger...
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