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Publication Detail
Leber Hereditary Optic Neuropathy— Light at the End of the Tunnel?
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Kim US, Jurkute N, Yu W-MP
  • Publisher:
    Asia-Pacific Academy of Ophthalmology
  • Publication date:
    01/08/2018
  • Pagination:
    242, 245
  • Journal:
    Asia-Pacific Journal of Ophthalmology
  • Volume:
    7
  • Issue:
    4
  • Status:
    Published
  • Print ISSN:
    2162-0989
  • Language:
    English
  • Keywords:
    gene therapy, idebenone, Leber hereditary optic neuropathy, LHON, mitochondrial donation, neuroprotection, retinal ganglion cells
  • Addresses:
    Kim’s Eye Hospital, Seoul, South Korea
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.
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