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Article

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

Ophthalmic genetics - 1 Mar 1997

Stoilova D, Child A, Desai S P, Sarfarazi M

Abstract excerpt

Juvenile optic atrophy (Kjer type; OPA1) is an autosomal dominant trait with an insidious onset in the first decade of life. The condition is characterized by a progressive loss of visual acuity that usually occurs with severe defects in color vision and visual fields. Genetic linkage analysis of a number of families has already assigned the OPA1 locus to the 3q28-qter region, within an estimated region of about...

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Identifiers

PMID: 9134544
DOI: 10.3109/13816819709057877

Genes

OPA1

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28.PMID 9134544Read ↗

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

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

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 ↗

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 ↗

A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.Semantic proximity Read ↗

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

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.Semantic proximity Read ↗

Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes.Semantic proximity Read ↗

Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.Semantic proximity Read ↗

A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16.Semantic proximity Read ↗

Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.Semantic proximity Read ↗

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