Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families

Citation
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
Citations number
22
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETICS IN MEDICINE
ISSN journal
10983600 → ACNP
Volume
2
Issue
5
Year of publication
2000
Pages
283 - 289
Database
ISI
SICI code
1098-3600(200009/10)2:5<283:CHIADO>2.0.ZU;2-E
Abstract
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.