As. Chen et al., Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families, GENET MED, 2(5), 2000, pp. 283-289
Purpose: To examine the clinical and genetic heterogeneity of autosomal dom
inant optic atrophy among two unrelated central Illinois families. Methods:
Forty-three individuals from two pedigrees had complete eye examinations.
Linkage analysis was performed with microsatellite markers from the region
3q28-29. Results: Visual acuity in 21 affected individuals ranged from 20/2
5 to 20/800. Vision loss was more severe in males than females (P = 0.02).
Color vision testing revealed generalized dyschromatopsia. Both visual acui
ty and color vision deteriorated with age. Linkage was established to chrom
osome 3q28-29 (LODmax = 4.68 for D3S2305). Conclusion: Autosomal dominant o
ptic atrophy linked to chromosome 3q28-29 shows intrafamilial phenotypic va
riation as well as sex-influenced severity in two Midwestern families.