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Article

Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysis.

Japanese journal of ophthalmology - 1 Jan 1992

Isashiki Y, Ohba N, Uto M, Nakagawa M, Nakano T, Kitahara K, Hotta A, Okamura R, Ozaki M, Futami Y

Abstract excerpt

Peripheral blood mitochondrial DNA (mtDNA) samples from 11 patients with acute optic neuritis or insidious optic atrophy were examined for the mutation at nt 11778 and nt 3460 in polymerase chain reaction products. The mtDNA mutation at nt 11778 was evident in 8 cases, which led to a definite diagnosis of Leber's hereditary optic neuropathy (LHON); 4 of the cases were familial and the remaining 4 cases were...

Topics

Acute Disease
Adolescent
Adult
Child
DNA, Mitochondrial
Electrophoresis, Agar Gel
Female
Fundus Oculi
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Optic Atrophies, Hereditary

Optic Neuritis

Polymerase Chain Reaction

Visual Field Tests

Source

Identifiers

PMID: 1513067

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1513067-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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