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

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Article

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

Klinische Monatsblatter fur Augenheilkunde - 1 May 1998

Lefèvre A, Hiroz C, Zografos L, Schorderet D F, Munier F L

Abstract excerpt

METHODS: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization. RESULTS: Two point analys...

Topics

Adolescent
Adult
Child
Chromosome Aberrations
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 3
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans
Male
Middle Aged
Optic Atrophies, Hereditary
Pedigree
Phenotype

Source

Open in PubMed

Identifiers

PMID: 9677562

Genes

OPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9677562-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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