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Article

Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.

Japanese journal of ophthalmology - 1 Jan 2000

Ishikawa Karin, Funayama Tomoyo, Ohde Hisao, Inagaki Yoko, Mashima Yukihiko

Abstract excerpt

PURPOSE: To determine whether genetic polymorphisms of the genes for oxidative stress and apoptosis cause the clinical variability in patients with Leber's hereditary optic neuropathy (LHON). METHODS: Eighty-seven unrelated Japanese LHON patients carrying the 11778 mitochondrial mutation were studied at the Keio University Hospital. Their mean age (+/-SD) was 25.0 +/- 13.0 years with a range 3 to 65 years. Eleven...

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Source

Identifiers

PMID: 15838728
DOI: 10.1007/s10384-004-0166-8

Genes

EPHX1
GSTM1
GSTT1
NOS3
NQO1
SOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.PMID 15838728Read ↗

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Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis.Semantic proximity Read ↗

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