Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.

ABSTRACT: Leber congenital amaurosis (LCA) is a severe congenital/early-onset retinal dystrophy. Given its monogenic nature and the immunological and anatomical privileges of the eye, LCA has been particularly targeted by cutting-edge research. In this review, we describe the current management of LCA, and highlight the clinical trials that are on-going and planned. RPE65-related LCA pivotal trials, which culminated in the first Food and Drug Administration-approved and European Medicines Agency-approved ocular gene therapy, have paved the way for a new era of genetic treatments in ophthalmology. At present, multiple clinical trials are available worldwide applying different techniques, aiming to achieve better outcomes and include more genes and variants. Genetic therapy is not only implemen

SUBMITTER: Daich Varela M 

PROVIDER: S-EPMC8961750 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature