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Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families
A S Chen1, M J Kovach, K Herman
1Division of Genetics and Metabolism, Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62794-9658, USA.
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.
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