Discover Community Create You

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

Article

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

American journal of human genetics - 5 Jan 2023

Mackey David A, Ong Jue-Sheng, MacGregor Stuart, Whiteman David C, Craig Jamie E, Lopez Sanchez M Isabel G, Kearns Lisa S, Staffieri Sandra E, Clarke Linda, McGuinness Myra B, Meteoukki Wafaa, Samuel Sona, Ruddle Jonathan B, Chen Celia, Fraser Clare L, Harrison John, Howell Neil, Hewitt Alex W

Abstract excerpt

Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be a major factor influencing the risk of vision loss from LHON. Mitochondrial variants, including m.14484T>C and m.11778G>A, have been added to gene arrays, and thus many patients and research participants are...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Australia
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glaucoma and retinal disorders

Share to Mitochondrial Function and Pathology

Share to Mutation

Share to Optic Atrophy, Hereditary, Leber

Share to Pedigree

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 36565701
DOI: 10.1016/j.ajhg.2022.11.014
PMCID: PMC9892764

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?PMID 36565701Read ↗

Low disease risk and penetrance in Leber hereditary optic neuropathy.Semantic proximity Read ↗

Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre.Semantic proximity Read ↗

Leber's Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis.Semantic proximity Read ↗

Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.Semantic proximity Read ↗

The epidemiology of Leber hereditary optic neuropathy in the North East of England.Semantic proximity Read ↗

Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.Semantic proximity Read ↗

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning ChoicesSemantic proximity Read ↗

Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.Semantic proximity Read ↗

Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey.Semantic proximity Read ↗

Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish populationSemantic proximity Read ↗

Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.