Clinical characteristics of early retinal disease due to CDHR1 mutation

PURPOSE: To describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1). METHODS: Three affected siblings from a consanguineous family were ascertained. The clinical data included retinal examination, Goldmann visu...

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Main Authors: Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2013
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3834600/
https://ncbi.nlm.nih.gov/pubmed/24265541
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