Therapeutic Options in Hereditary Optic Neuropathies

Drugs. 2021 Jan;81(1):57-86. doi: 10.1007/s40265-020-01428-3.


Options for the effective treatment of hereditary optic neuropathies have been a long time coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic Neuropathy (LHON), followed by its introduction into clinical practice across Europe, was an important step forward. Nevertheless, other options, especially for a variety of mitochondrial optic neuropathies such as dominant optic atrophy (DOA), are needed, and a number of pharmaceutical agents, acting on different molecular pathways, are currently under development. These include gene therapy, which has reached Phase III development for LHON, but is expected to be developed also for DOA, whilst most of the other agents (other antioxidants, anti-apoptotic drugs, activators of mitobiogenesis, etc.) are almost all at Phase II or at preclinical stage of research. Here, we review proposed target mechanisms, preclinical evidence, available clinical trials with primary endpoints and results, of a wide range of tested molecules, to give an overview of the field, also providing the landscape of future scenarios, including gene therapy, gene editing, and reproductive options to prevent transmission of mitochondrial DNA mutations.

Publication types

  • Review

MeSH terms

  • Humans
  • Optic Atrophy, Hereditary, Leber / drug therapy*
  • Optic Atrophy, Hereditary, Leber / genetics
  • Optic Nerve Diseases / drug therapy
  • Optic Nerve Diseases / genetics