The Asia-Pacific Journal of Ophthalmology

Asia-Pacific Journal of Ophthalmology:

Issue 4, July/August 2018 Review Article

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

Kim, Ungsoo Samuel; Jurkute, Neringa; Yu-Wai-Man, Patrick



Author Information


From the *Kim’s Eye Hospital, Seoul, South Korea; †Department of Ophthalmology, Konyang University College of Medicine, Daejeon, South Korea; ‡NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London; §Cambridge Eye Unit, Addenbrooke’s Hospital, Cambridge University Hospitals, Cambridge; ¶MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge; and ∥Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.


Reprints: Patrick Yu-Wai-Man, PhD, FRCOphth, Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, United Kingdom. E-mail: py237@cam.ac.uk.



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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