Hereditary optic neuropathies.

N J Newman; V Biousse

doi:10.1038/sj.eye.6701591

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Hereditary optic neuropathies.

N J Newman·V Biousse

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Abstract

AIMS: To provide a clinical update on the hereditary optic neuropathies. METHODS: Review of the literature. RESULTS: The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based on familial expression or genetic analysis. In some hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. In others, various neurologic and systemic abnormalities are regularly observed. CONCLUSION: The most common hereditary optic neuropathies are autosomal dominant optic atrophy (Kjer's disease) and maternally inherited Leber's hereditary optic neuropathy. We review the clinical phenotypes of these and other inherited disorders with optic nerve involvement.

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Dysautonomia, Familial Female Friedreich Ataxia Humans Male Muscular Dystrophies Optic Atrophies, Hereditary Optic Atrophy, Autosomal Dominant Optic Atrophy, Hereditary, Leber Pedigree Spinocerebellar Ataxias Vision Disorders Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.Review

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N J Newman, V Biousse. 2004. Hereditary optic neuropathies.. https://doi.org/10.1038/sj.eye.6701591

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