Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

To determine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D gene.Retrospective observational case series.Twenty-eight patients with GUCY2D-LCA (aged 2-59 years) were studied clinically and with chromatic full-field sensitivity testing (FST), optical coherence tomography (OCT), pupillometry, and the NEI Visual Function Questionnaire (VFQ).FST permitted quantitation of cone and rod...