Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

New avenues for therapy in mitochondrial optic neuropathies

Ng, Wing Sum Vincent, Trigano, Matthieu, Freeman, Thomas, Varrichio, Carmine, Kandaswamy, Dinesh Kumar, Newland, Ben ORCID:, Brancale, Andrea ORCID:, Rozanowska, Malgorzata ORCID: and Votruba, Marcela ORCID: 2021. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic Advances in Rare Disease 2 , pp. 1-14. 10.1177/26330040211029037

[thumbnail of 26330040211029037.pdf] PDF - Published Version
Available under License Creative Commons Attribution Non-commercial.

Download (156kB)


Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber’s hereditary optic neuropathy (LHON). Their clinical features comprise reduced visual acuity, colour vision deficits, centro-caecal scotomas and optic disc pallor with thinning of the retinal nerve fibre layer. The primary aetiology is genetic, with underlying nuclear or mitochondrial gene mutations. The primary pathology is owing to retinal ganglion cell dysfunction and degeneration. There is currently only one approved treatment and no curative therapy is available. In this review we summarise the genetic and clinical features of ADOA and LHON and then examine what new avenues there may be for therapeutic intervention. The therapeutic strategies to manage LHON and ADOA can be split into four categories: prevention, compensation, replacement and repair. Prevention is technically an option by modifying risk factors such as smoking cessation, or by utilising pre-implantation genetic diagnosis, although this is unlikely to be applied in mitochondrial optic neuropathies due to the non-life threatening and variable nature of these conditions. Compensation involves pharmacological interventions that ameliorate the mitochondrial dysfunction at a cellular and tissue level. Replacement and repair are exciting new emerging areas. Clinical trials, both published and underway, in this area are likely to reveal future potential benefits, since new therapies are desperately needed.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
ISSN: 2633-0040
Date of First Compliant Deposit: 6 August 2021
Date of Acceptance: 10 June 2021
Last Modified: 05 Jan 2024 05:50

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics