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

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.

Source: Ophthalmology - February 2, 2018 Category: Opthalmology Authors: Leo Sheck, Wayne I.L. Davies, Phillip Moradi, Anthony G. Robson, Neruban Kumaran, Alki C. Liasis, Andrew R. Webster, Anthony T. Moore, Michel Michaelides Tags: Original Article Source Type: research