Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
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DOI: 10.1016/j.ophtha.2017.12.013
Abstract: 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… read more here.
Keywords: mutations cep290; clinical phenotype; leber congenital; congenital amaurosis ... See more keywords