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

doi:10.1136/jmg.34.2.117

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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 an...

Topics

Adolescent
Adult
Child
Chromosome Mapping
Chromosomes, Human, Pair 3
Female
Genes, Dominant
Genetic Heterogeneity
Genetic Linkage
Genotype
Humans
Male
Middle Aged
Molecular Sequence Data
Optic Atrophy
Pedigree
Phenotype

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