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

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

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 fo...

Topics

Adolescent
Adult
Aged
DNA Mutational Analysis
DNA, Mitochondrial
Female
Genes, Mitochondrial
Genetic Association Studies
Genetic Testing
Humans
Male
Middle Aged
Mutation
Ophthalmoscopy
Optic Atrophy, Autosomal Dominant
Optic Atrophy, Hereditary, Leber
Pedigree

Source

Open in PubMed

Identifiers

PMID: 23808173

Genes

OPA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-23808173-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics