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

Investigative Ophthalmology & Visual Science
S G JacobsonG A Fishman

Abstract

To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. 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), autofluorescence imaging (NIR-RAFI), transient pupillary light reflex (TPLR), oculomotor control and instability (OCI), a mobility course, and a questionnaire (NEI-VFQ). Patients were investigated cross-sectionally but a subset was able to be followed longitudinally. With FST, there was no rod function; cone sensitivities had a wide range from not detectable to near normal. OCT analyses indicated retained central photoreceptors with abnormal distal laminae. Based on OCT and FST, most patients had dissociation of structure and function. TPLR was nondetectable in the majority of patients, with responders demonstrating severe losses in light sensitivity. OCI was abnormal in most patients. NEI-VFQ scores had a similar range to those of other severe retinopathies. Mobility scores were consistent with FST sensitivities. In patients examined wi...Continue Reading

Citations

Sep 8, 2018·Investigative Ophthalmology & Visual Science·Dyon ValkenburgRob W J Collin
Apr 23, 2019·Investigative Ophthalmology & Visual Science·Artur V Cideciyan, Samuel G Jacobson
May 20, 2020·Investigative Ophthalmology & Visual Science·Katherine E UyhaziTomas S Aleman
May 24, 2019·International Journal of Molecular Sciences·Alejandro J RomanSamuel G Jacobson
Aug 5, 2020·Seminars in Cell & Developmental Biology·Holly Y ChenAnand Swaroop
Mar 7, 2021·International Journal of Molecular Sciences·Samuel G JacobsonAlexandra V Garafalo
Mar 14, 2021·The British Journal of Ophthalmology·Malena Daich VarelaMichel Michaelides

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