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Leber Hereditary Optic Neuropathy—Light at the End of the Tunnel?

Kim, US; Jurkute, N; Yu, W-MP; (2018) Leber Hereditary Optic Neuropathy—Light at the End of the Tunnel? Asia-Pacific Journal of Ophthalmology , 7 (4) pp. 242-245. 10.22608/APO.2018293. Green open access

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Abstract

Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness. The majority of patients harbor one of three mitochondrial DNA (mtDNA) point mutations, m.3460G>A, m.11778G>A, and m.14484T>C, which all affect complex I subunits of the mitochondrial respiratory chain. The loss of retinal ganglion cells in LHON is thought to arise from a combination of impaired mitochondrial oxidative phosphorylation resulting in decreased adenosine triphosphate (ATP) production and increased levels of reactive oxygen species. Treatment options for LHON remain limited, but major advances in mitochondrial neuroprotection, gene therapy, and the prevention of transmission of pathogenic mtDNA mutations will hopefully translate into tangible benefits for patients affected by this condition and their families.

Type: Article
Title: Leber Hereditary Optic Neuropathy—Light at the End of the Tunnel?
Open access status: An open access version is available from UCL Discovery
DOI: 10.22608/APO.2018293
Publisher version: http://dx.doi.org/10.22608/APO.2018293
Language: English
Additional information: This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: gene therapy, idebenone, Leber hereditary optic neuropathy, LHON, mitochondrial donation, neuroprotection, retinal ganglion cells
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10058118
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