Genetic Mechanism Behind LHON Vision Loss

The cause of Leber’s hereditary optic neuropathy lies in specific point mutations in mitochondrial DNA that impair mitochondrial energy production. The most common mutations affect the enzyme complex I of the respiratory chain, reducing ATP formation and increasing oxidative stress inside cells. When retinal ganglion cells lack sufficient energy and face elevated free radicals, they undergo dysfunction and death, resulting in vision loss that often starts in one eye and progresses to the other. 

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