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Case Report

Leber’s Hereditary Optic Neuropathy Associated With Schizophrenia

Laurent Boyer, MD, PhD; Eric Guedj, MD, PhD; Daniel Dassa, MD, PhD; and Christophe Lancon, MD, PhD

Published: September 15, 2012

Article Abstract

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease characterized by bilateral visual loss of central vision, generally affecting young men. Three main mutations of mitochondrial DNA (mtDNA) involved in complex I of the oxidative phosphorylation system have been reported, encompassing over 90% of patients: G3460A (genetic subunit ND1), G11778A (ND4), and T14484C (ND6). Mitochondrial oxidative phosphorylation is the major pathway producing adenosine triphosphatase (ATP), which supplies more than 95% of the total energy requirements in cells.

Volume: 73

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