RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.

ABSTRACT:

Background

This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.

Methods

An expert steering committee comprising an interdisciplinary panel of Italian experts in the three fields of medical specialisation involved in the management of RPE65-associated inherited retinal disease (IRD) (medical retina, genetics, vitreoretinal surgery) proposed clinical questions necessary to determine the correct identification of patients with the disease, determine the fundamental clinical and genetics tests to reach the correct diagnosis and to evaluate the urgency to treat patients eligible to receive treatment with voretigene neparvovec. Supported by an exten

SUBMITTER: Sodi A 

PROVIDER: S-EPMC8176684 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature