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The clinical features of retinal disease due to a dominant mutation in RPE65

PURPOSE: To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy. METHODS: Five patients from two families were ascertained from the retinal clinics of a tertiary referral center. Phenotyping included retinal imaging and electrophy...

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發表在:Mol Vis
Main Authors: Hull, Sarah, Mukherjee, Rajarshi, Holder, Graham E., Moore, Anthony T., Webster, Andrew R.
格式: Artigo
語言:Inglês
出版: Molecular Vision 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901053/
https://ncbi.nlm.nih.gov/pubmed/27307694
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