Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree.

Abstract

OBJECTIVES:

To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members.

METHODS:

Family members received a domiciliary examination based on corrected visual acuity, color vision, visual field defects, and optic disc appearance; DNA linkage analysis was performed using 7 microsatellite markers on 3q27-qter.

RESULTS:

Based on the results of the ophthalmic examination, 15 members could be classified as definitely affected, 1 probably affected, and 25 unaffected. Two-point linkage analysis gave significant maximum lod scores at theta [corrected] = 0.00, with the markers D3S3669, D3S3590, and D3S3642. A haplotype segregating with the disease was identified in affected individuals, including the probably affected subject. Informative meioses defined the disease interval between markers D3S1601 and D3S1265.

CONCLUSIONS:

Domiciliary screening was effective in identifying all 16 affected members of a British family with dominant optic atrophy. The typical clinical features were present. The location of the OPA1 gene in this new British family seems to be in the 3q27-28 region and is the same as that reported in Danish, Cuban, and French families, suggesting no genetic heterogeneity in this disorder.

• Authors: R L Johnston, M A Burdon, D J Spalton, S P Bryant, J T Behnam, M J Seller
• Journal: Archives of ophthalmology (Chicago, Ill. : 1960) (Arch Ophthalmol) Vol. 115 Issue 1 Pg. 100-3 (Jan 1997) ISSN: 0003-9950 [Print] United States
• PMID: 9006433 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA

Topics

• Adult
• Aged
• Aged, 80 and over
• Child
• Chromosome Mapping
• Chromosomes, Human, Pair 3 (genetics)
• Color Perception
• DNA (analysis)
• Female
• Genetic Linkage (genetics)
• Humans
• Male
• Microsatellite Repeats
• Middle Aged
• Optic Atrophies, Hereditary (genetics, pathology)
• Pedigree
• United Kingdom
• Vision Disorders (diagnosis, genetics)
• Visual Acuity
• Visual Fields