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年龄相关性黄斑变性:疾病的遗传和环境因素

Age-related macular degeneration: genetic and environmental factors of disease.

作者信息

Chen Yuhong, Bedell Matthew, Zhang Kang

机构信息

Department of Ophthalmology and Vision Science, Eye and ENT Hospital, Fudan University, Shanghai, China.

出版信息

Mol Interv. 2010 Oct;10(5):271-81. doi: 10.1124/mi.10.5.4.

Abstract

Age-related macular degeneration (AMD) is the most common cause of visual impairment among the elderly in developed countries, and its prevalence is thus increasing as the population ages; however, treatment options remain limited because the etiology and pathogenesis of AMD are incompletely defined. Recently, much progress has been made in gene discovery and mechanistic studies, which clearly indicate that AMD involves the interaction of multiple genetic and environmental factors. The identification of genes that have a substantial impact on the risk for AMD is not only facilitating the diagnosis and screening of populations at risk but is also elucidating key molecular pathways of pathogenesis. Pharmacogenetic studies of treatment responsiveness among patients with the "wet" form of AMD are increasingly proving to be clinically relevant; pharmacogenetic approaches hold great promise for both identifying patients with the best chance for vision recovery as well as tailoring individualized therapies.

摘要

年龄相关性黄斑变性(AMD)是发达国家老年人视力损害的最常见原因,因此随着人口老龄化,其患病率正在上升;然而,由于AMD的病因和发病机制尚未完全明确,治疗选择仍然有限。最近,在基因发现和机制研究方面取得了很大进展,这清楚地表明AMD涉及多种遗传和环境因素的相互作用。鉴定对AMD风险有重大影响的基因不仅有助于对高危人群进行诊断和筛查,还能阐明发病机制的关键分子途径。对“湿性”AMD患者治疗反应性的药物遗传学研究越来越证明具有临床相关性;药物遗传学方法在识别视力恢复机会最大的患者以及定制个性化治疗方面都具有巨大潜力。

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