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

TitleLeber Hereditary Optic Neuropathy-Light at the End of the Tunnel?
Publication TypeJournal Article
Year of Publication2018
AuthorsKim, USamuel, Jurkute, N, Yu-Wai-Man, P
JournalAsia Pac J Ophthalmol (Phila)
Date Published2018 Jul-Aug
KeywordsDNA, Mitochondrial, Humans, Mitochondria, Optic Atrophy, Hereditary, Leber, Point Mutation, Retinal Ganglion Cells

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.

Alternate JournalAsia Pac J Ophthalmol (Phila)
Citation Key10.22608/APO.2018293
PubMed ID30008192