GTR Home > Conditions/Phenotypes > Leber optic atrophy


Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral, painless, subacute visual failure. The peak age of onset in LHON is in the second and third decades of life, with 90% of those who lose their vision doing so before age 50 years. Very rarely, individuals first manifest LHON in the seventh and eighth decades of life. Males are four to five times more likely to be affected than females, but neither sex nor mutational status significantly influences the timing and severity of the initial visual loss. Neurologic abnormalities such as postural tremor, peripheral neuropathy, nonspecific myopathy, and movement disorders have been reported to be more common in individuals with LHON than in the general population. Some individuals with LHON, usually women, may also develop a multiple sclerosis-like illness. [from GeneReviews]

Genes See tests for all associated and related genes

  • Also known as: ATPase6, MTATP6, ATP6
    Summary: mitochondrially encoded ATP synthase 6

  • Also known as: COIII, MTCO3, COX3
    Summary: mitochondrially encoded cytochrome c oxidase III

  • Also known as: MTCYB, CYTB
    Summary: mitochondrially encoded cytochrome b

  • Also known as: MTND1, ND1
    Summary: mitochondrially encoded NADH dehydrogenase 1

  • Also known as: MTND2, ND2
    Summary: mitochondrially encoded NADH dehydrogenase 2

  • Also known as: MTND4, ND4
    Summary: mitochondrially encoded NADH dehydrogenase 4

  • Also known as: MTND4L, ND4L
    Summary: mitochondrially encoded NADH 4L dehydrogenase

  • Also known as: MTND5, ND5
    Summary: mitochondrially encoded NADH dehydrogenase 5

  • Also known as: MTND6, ND6
    Summary: mitochondrially encoded NADH dehydrogenase 6

Clinical features


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