Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

• Type of Material: Article
• Authors: Jose-Alain Sahel, Emory University; Nancy Newman, Emory University; Patrick Yu-Wai-Man; Catherine Vignal-Clermont; Valerio Carelli; Valerie Biousse; Mark L. Moster; Robert Sergott; Thomas Klopstock; Alfredo A. Sadun; Laure Blouin; Barrett Katz; Magali Taiel
• Language: English
• Date: 2021-10-01
• Publisher: Lippincott
• Publication Version: Final Published Version
• Copyright Statement: © 2021 The Author(s). Published by Wolters Kluwer Health, Inc
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1097/IIO.0000000000000364
• Title of Journal or Parent Work: International ophthalmology clinics
• Volume: 61
• Issue: 4
• Start Page: 195
• End Page: 208
• Keywords: Optic Atrophy, Hereditary, Leber; Genetic Therapy; Humans
• Research Categories: Biology, Genetics

Abstract

Leber hereditary optic neuropathy (LHON) is a rare, blinding, maternally inherited mitochondrial genetic disease in need of effective treatment. LHON is a nonsyndromic optic neuropathy affecting the retinal ganglion cells (RGCs), whose axons form the optic nerve and extend into the brain via the optic chiasm and optic tracts. The physiopathology of LHON is characterized by selective loss of RGCs and their axons, which leads to rapidly progressive bilateral central vision loss.