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Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass

Michio Hirano
DOI: http://dx.doi.org/10.1093/brain/awu005 308-309 First published online: 5 February 2014

Among mitochondrial diseases, Leber hereditary optic neuropathy (LHON) stands out as a prototype in several respects. It was the first mitochondrial disease to be clinically recognized by Dr Albrecht von Graefe (1858) but was named after Dr Theodore Leber who, 13 years after the original report, described 15 patients with the disease, from four different families (Leber, 1871). LHON also has the distinction of being the initial human disorder noted to be maternally inherited (Wallace, 1970) and the first to be linked to a pathogenic point mutation of mitochondrial DNA (Wallace et al., 1988).

This common mitochondrial disease typically presents in males during adolescence or young adulthood with painless loss of central vision in one eye, followed by loss of vision in the second eye within weeks or months (Newman, 2005; Barboni et al., 2010). The loss of vision is because of selective vulnerability of retinal ganglion cells in the papillomacular bundle. In the majority of cases, LHON is a result of one of three mitochondrial DNA point mutations within genes encoding polypeptide subunits of complex I of the mitochondrial …

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