Leber's Hereditary Optic Neuropathy

Clinical Manifestations of the 3460 Mutation

Donald R. Johns, Kyle H. Smith, Neil R Miller

Research output: Contribution to journalArticle

Abstract

Leber's hereditary optic neuropathy is associated with three different point mutations of mitochondrial DNA that appear to be pathogenetic for the disease. These mutations affect nucleotide positions 3460, 11778, and 15257. We reviewed the clinical characteristics of 12 visually symptomatic patients from nine families with the 3460 mutation and compared them with previously published characteristics of symptomatic patients with the 11778 mutation. The patients with the 3460 mutation were similar to the patients with the 11 778 mutation in most clinical parameters. However, the patients with the 3460 mutation had a higher incidence of visual recovery (20% vs 4%, P=.001), a higher percentage of pedigrees with more than one affected family member (78% vs 43%, P=.011), and a greater frequency of tobacco and alcohol abuse. The difference in visual prognosis between these two mutations and the need for modification of possible risk factors provide added significance to genetic testing for Leber's hereditary optic neuropathy.

Original languageEnglish (US)
Pages (from-to)1577-1581
Number of pages5
JournalArchives of Ophthalmology
Volume110
Issue number11
DOIs
StatePublished - 1992

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Leber's Hereditary Optic Atrophy
Mutation
Genetic Testing
Pedigree
Mitochondrial DNA
Point Mutation
Alcoholism
Tobacco
Nucleotides
Incidence

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Leber's Hereditary Optic Neuropathy : Clinical Manifestations of the 3460 Mutation. / Johns, Donald R.; Smith, Kyle H.; Miller, Neil R.

In: Archives of Ophthalmology, Vol. 110, No. 11, 1992, p. 1577-1581.

Research output: Contribution to journalArticle

Johns, Donald R. ; Smith, Kyle H. ; Miller, Neil R. / Leber's Hereditary Optic Neuropathy : Clinical Manifestations of the 3460 Mutation. In: Archives of Ophthalmology. 1992 ; Vol. 110, No. 11. pp. 1577-1581.
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