Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect
Purpose: To examine the clinical and genetic heterogeneity of autosomal dominant 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 20/25 to 20/800. Vision loss was more severe in males than females (P = 0.02). Color vision testing revealed generalized dyschromatopsia. Both visual acuity and color vision deteriorated with age. Linkage was established to chromosome 3q28–29 (LODmax = 4.68 for D3S2305).Conclusion: Autosomal dominant optic atrophy linked to chromosome 3q28–29 shows intrafamilial phenotypic variation as well as sex-influenced severity in two Midwestern families.