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Article

[Clinical and molecular genetic analysis of hereditary optic neuropathies].

Vestnik oftalmologii - 1 Jan 2000

Avetisov S É, Sheremet N L, Vorob'eva O K, Eliseeva É G, Chukhrova A L, Loginova A N, Khanakova N A, Poliakov A V

Abstract excerpt

DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA...

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Identifiers

PMID: 23808173

Genes

OPA3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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