Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy.

doi:10.1016/s0005-2728(98)00163-7

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Article

Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy.

Biochimica et biophysica acta - 9 Feb 1999

Chalmers R M, Schapira A H

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) has traditionally been considered a disease causing severe and permanent visual loss in young adult males. In nearly all families with LHON it is associated with one of three pathogenic mitochondrial DNA (mtDNA) mutations, at bp 11778, 3460 or 14484. The availability of mtDNA confirmation of a diagnosis of LHON has demonstrated that LHON occurs with a wider range of age...

Topics

Age of Onset
Autoimmunity
Base Pairing
DNA, Mitochondrial
Electron Transport
Environment
Female
Humans
Male
Mutation
Optic Atrophies, Hereditary
Sex Factors

Source

Open in PubMed

Identifiers

PMID: 10076023
DOI: 10.1016/s0005-2728(98)00163-7

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