Leber's Hereditary Optic Neuropathy: New Genetic Considerations

doi:10.1001/archneur.1993.00540050082021

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Vol. 50 No. 5, May 1993

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Leber's Hereditary Optic Neuropathy

New Genetic Considerations

Nancy J. Newman, MD

Arch Neurol. 1993;50(5):540-548.

Abstract

• Objective.
—Leber's hereditary optic neuropathy (LHON) is a maternallyinherited disease that causes bilateral central visual loss,predominantly in young men. Recently, this disorder has beenassociated with point mutations in the mitochondrial genome.The clinical characteristics of LHON are reviewed with specialattention to recent advances in mitochondrial genetics.

Data Sources.
—Literature from the mid-19th century to the present isreviewed.

Study Selection.
—Major review articles that include multiple large pedigreesin their analysis are featured. Special emphasis is placed onthe recent reports on mitochondrial DNA abnormalities associatedwith this disease.

Data Extraction.
—The older literature is reviewed critically with an understandingthat some of the patients included as examples of LHON may havehad a different disease. The more current references are assessedin regard to their inclusion of appropriate and complete mitochondrialDNA analysis.

Data Synthesis.
—Leber's hereditary optic neuropathy, a maternally inheriteddisease primarily of young men, results in bilateral, acuteor subacute, central visual loss and, ultimately, optic atrophy.Point mutations in the mitochondrial genes encoding proteinsessential to oxidative phosphorylation have been associatedwith this disorder. Primary mutations include those found atpositions 11778, 3460, and, possibly, 15257 and 14484. Mitochondrial,nuclear, and environmental factors may modify phenotypic expression.

Conclusion.
—Genetic analysis has allowed for a broader view of whatconstitutes the clinical phenotype of LHON.

Author Affiliations

From the Departments of Ophthalmology, Neurology, and Neurosurgery, Emory University School of Medicine, Atlanta, Ga.

Footnotes

Accepted for publication November 11, 1992.

Reprint requests to Neuro-ophthalmology Unit, The Emory EyeCenter, 1327 Clifton Rd NE, Atlanta, GA 30322 (Dr Newman).

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