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显性遗传性视神经萎缩的研究

Studies in dominant optic atrophy.

作者信息

Roggeveen H C, de Winter A P, Went L N

出版信息

Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):103-9. doi: 10.3109/13816818509007863.

Abstract

The study of six families with dominant optic atrophy (DOA) originating from the neighbourhood of Leiden revealed that four could be connected through a common ancestor. A detailed analysis of 89 patients permitted a subdivision of the three remaining families into two groups: one with on the average a low visual acuity (less than 0.1) and the other with a moderately reduced visual acuity (+/- 0.35). Furthermore, differences in colour vision were observed. Genetic heterogeneity is thought to be at the root of these differences.

摘要

对来自莱顿附近地区的六个患有显性遗传性视神经萎缩(DOA)的家族进行的研究表明,其中四个家族可通过一位共同祖先联系起来。对89名患者的详细分析使得其余三个家族可细分为两组:一组平均视力较低(低于0.1),另一组视力中度下降(约为0.35)。此外,还观察到了色觉差异。这些差异被认为源于遗传异质性。

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