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Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.

Investigative ophthalmology & visual science - 1 May 2017

Jacobson Samuel G, Cideciyan Artur V, Sumaroka Alexander, Roman Alejandro J, Charng Jason, Lu Monica, Choi Windy, Sheplock Rebecca, Swider Malgorzata, Kosyk Mychajlo S, Schwartz Sharon B, Stone Edwin M, Fishman Gerald A

Abstract excerpt

Purpose: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. Methods: CEP290-LCA patients (ages 5-48) with the intronic mutation (c.2991+1655A>G) were studied as a retrospective observational case series using clinical methods and with full-field sensitivity testing (FST), optical coherence tomography (OCT),...

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PMID: 28510626
DOI: 10.1167/iovs.17-21560

Genes

FST
RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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