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

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Acta ophthalmologica Scandinavica - 1 Jun 2005

Puomila Anu, Huoponen Kirsi, Mäntyjärvi Maija, Hämäläinen Petra, Paananen Reetta, Sankila Eeva-Marja, Savontaus Marja-Liisa, Somer Mirja, Nikoskelainen Eeva

Abstract excerpt

PURPOSE: To assess the clinical picture and molecular genetics of 14 Finnish families with dominant optic atrophy (DOA). METHODS: The clinical status of family members was based on the assessment of visual acuity, colour vision, visual fields and optic nerve appearance; 31 individuals were affected, two suspect and 21 unaffected. A total of 30 coding exons and exon- intron boundaries of the OPA1 gene were...

Read the complete abstract on PubMed

Topics

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

Share to Color Vision Defects
Share to Finland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Molecular Biology

Share to Optic Atrophy, Autosomal Dominant

Share to Optic Disk

Share to Visual Acuity

Share to Visual Fields

Source

Identifiers

PMID: 15948788
DOI: 10.1111/j.1600-0420.2005.00448.x

Genes

OPA1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant optic atrophy: correlation between clinical and molecular genetic studies.PMID 15948788Read ↗

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Semantic proximity Read ↗

First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.Semantic proximity Read ↗

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.Semantic proximity Read ↗

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.Semantic proximity Read ↗

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.Semantic proximity Read ↗

Dominant optic atrophySemantic proximity Read ↗

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.Semantic proximity Read ↗

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.Semantic proximity Read ↗

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Semantic proximity Read ↗

Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.Semantic proximity Read ↗

[Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].Semantic proximity Read ↗

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