GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

PURPOSE: To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies. DESIGN: Retrospective case series. METHODS: Participants: Patients with GUCY2D-LCA at a single r...

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Publicado no:Am J Ophthalmol
Main Authors: Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Science 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7013380/
https://ncbi.nlm.nih.gov/pubmed/31704230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2019.10.019
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