Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

PURPOSE: To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults and children. DESIGN: Retrospective case series. PAR...

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Gepubliceerd in:Ophthalmology
Hoofdauteurs: Sheck, Leo, Davies, Wayne I.L., Moradi, Phillip, Robson, Anthony G., Kumaran, Neruban, Liasis, Alki C., Webster, Andrew R., Moore, Anthony T., Michaelides, Michel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2018
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974693/
https://ncbi.nlm.nih.gov/pubmed/29398085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2017.12.013
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