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

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Journal of medical genetics - 1 Feb 1997

Votruba M, Moore A T, Bhattacharya S S

Abstract excerpt

Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease characterised by variable optic atrophy and reduction in visual acuity. It has an insidious onset in the first decade of life and is clinically highly heterogeneous. It is associated with a centrocecal scotoma of varying size and density and an acquired blue-yellow dyschromatopsia. Recent studies of three large Danish pedigrees have mapped a...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genotype

Share to Molecular Sequence Data

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 9039986
DOI: 10.1136/jmg.34.2.117
PMCID: PMC1050863

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.PMID 9039986Read ↗

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.Semantic proximity Read ↗

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28.Semantic proximity Read ↗

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)Semantic proximity Read ↗

A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.Semantic proximity Read ↗

Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity.Semantic proximity Read ↗

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.Semantic proximity Read ↗

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.Semantic proximity Read ↗

[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)].Semantic proximity Read ↗

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.Semantic proximity Read ↗

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.Semantic proximity Read ↗

Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.Semantic proximity Read ↗

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.Semantic proximity Read ↗

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