Ontology highlight
ABSTRACT:
SUBMITTER: Jacobson SG
PROVIDER: S-EPMC7922686 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Jacobson Samuel G SG Cideciyan Artur V AV Sumaroka Alexander A Roman Alejandro J AJ Wu Vivian V Swider Malgorzata M Sheplock Rebecca R Krishnan Arun K AK Garafalo Alexandra V AV
International journal of molecular sciences 20210218 4
Gene augmentation therapy is being planned for <i>GUCY2D</i>-associated Leber congenital amaurosis (LCA). To increase our understanding of the natural history of <i>GUCY2D</i>-LCA, patients were evaluated twice with an interval of 4 to 7 years between visits using safety and efficacy outcome measures previously determined to be useful for monitoring this disorder. In this group of molecularly-identified LCA patients (<i>n</i> = 10; ages 7-37 years at first visit), optical coherence tomography (O ...[more]