Article
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 1997
Brown J, Fingert J H, Taylor C M, Lake M, Sheffield V C, Stone E M
Abstract excerpt
OBJECTIVES: To refine the dominant optic atrophy locus, OPA1, on chromosome 3q and to characterize the phenotype of a 6-generation family pedigree affected with this disease. METHODS: Fifty-six family members had a complete eye examination. Clinical records of an additional 3 patients were review...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Blindness
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Color Vision Defects
- Female
- Fundus Oculi
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Infant
- Infant, Newborn