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

doi:10.3109/13816819709057877

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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...

Topics

Alleles
Chromosome Mapping
Chromosomes, Human, Pair 3
DNA
Female
Genetic Markers
Genotype
Haplotypes
Humans
Lod Score
Male
Middle Aged
Optic Atrophies, Hereditary
Pedigree
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
Visual Acuity

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