Studies in dominant optic atrophy.
The study of six families with dominant optic atrophy (DOA) originating from the neighbourhood of Leiden revealed that four could be connected through a common ancestor. A detailed analysis of 89 patients permitted a subdivision of the three remaining families into two groups: one with on the average a low visual acuity (less than 0.1) and the other with a moderately reduced visual acuity (+/- 0.35). Furthermore, differences in colour vision were observed. Genetic heterogeneity is thought to be at the root of these differences.
D000293:Adolescent; D000328:Adult; D002648:Child; D003118:Color Perception; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009896:Optic Atrophy / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D014792:Visual Acuity