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

被引：6

作者：

Chen, AS

Kovach, MJ

Herman, K

Avakian, A

Frank, W

Forrester, S

Lin, JP

Kimonis, V

机构：

[1] So Illinois Univ, Sch Med, Dept Pediat, Div Genet & Metab, Springfield, IL 62794 USA

[2] Illinois State Police, Forens Sci Command, Res & Dev Lab, Div Forens Serv, Springfield, IL USA

[3] SIU Eye Ctr, Springfield, IL USA

[4] NHLBI, Off Biostat, NIH, Bethesda, MD 20892 USA

来源：

GENETICS IN MEDICINE | 2000年 / 2卷 / 05期

关键词：

optic atrophy; dominant; chromosome; 3q; linkage; sex-influenced variation;

D O I：

10.1097/00125817-200009000-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：283 / 289

页数：7

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