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[遗传性眼病的基因检测与咨询]

[Genetic testing and counselling in inherited eye disease].

作者信息

Brøndum-Nielsen Karen, Jensen Hanne, Timshel Susanne, Grønskov Karen, Larsen Michael

机构信息

Klinikken Kennedy Centret, Gl. Landevej 7, Glostrup.

出版信息

Ugeskr Laeger. 2013 Sep 2;175(36):2031-4.

Abstract

Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.

摘要

遗传学的进展使遗传性眼病患者的基因检测越来越容易获得,而临床干预试验的启动也使其在临床上越来越具有相关性。基于眼科医生和临床遗传学家之间的多学科合作,丹麦肯尼迪中心国家眼科诊所的单基因遗传性眼病家庭广泛登记册提供了一项宝贵资产,有待在全球减少基因缺陷导致失明的努力中加以利用。

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