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Article

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

Ophthalmology - 1 Jun 2018

Sheck Leo, Davies Wayne I L, Moradi Phillip, Robson Anthony G, Kumaran Neruban, Liasis Alki C, Webster Andrew R, Moore Anthony T, Michaelides Michel

Abstract excerpt

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. PARTICIPANTS: Patients with mutations in CEP290 identified at a single UK referral center. METHODS: Review of case...

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Identifiers

PMID: 29398085
DOI: 10.1016/j.ophtha.2017.12.013
PMCID: PMC5974693

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Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.PMID 29398085Read ↗

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