Diseases Studied
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All Diseases > Leber Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy (LHON)
Alternative Names: Hereditary Optic Neuroretinopathy; Leber's Optic Atrophy
Disease Category: Mitochondrial Disorders
A rare, inherited disorder caused by genetic mutations in DNA of the mitochondria (specialized cell structures that produce energy). Because the mitochondrial DNA mutation is inherited from mothers, it is a maternally inherited disorder. This results in degeneration of the optic nerve that sends messages from the eyes to the brain, leading to progressive central vision loss in both eyes. Symptoms usually manifest in adolescence or adulthood, including loss of both color vision and visual acuity (sharpness). Male individuals are affected more frequently than females. The heart may show an extra electrical pathway between the atria (upper chambers) and ventricles (lower chambers).
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.