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近视遗传学:当前研究与新趋势综述

Myopia genetics: a review of current research and emerging trends.

作者信息

Hornbeak Dana M, Young Terri L

机构信息

Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.

出版信息

Curr Opin Ophthalmol. 2009 Sep;20(5):356-62. doi: 10.1097/ICU.0b013e32832f8040.

Abstract

PURPOSE OF REVIEW

Myopia, or nearsightedness, is the most common human eye disorder in the world and is a significant global public health concern. Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide. Severe or high-grade myopia is a leading cause of blindness because of its associated ocular comorbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample epidemiologic and molecular genetic studies support heritability of the nonsyndromic forms of this condition.

RECENT FINDINGS

Multiple myopia genetic loci have been identified, establishing this entity as a common complex disorder and underscoring the suitability for gene inquiry studies. Animal model research, primarily using form-deprivation techniques, implicates multiple altered regulation of biological substances in the ocular wall layers, which provides important information for prioritizing human candidate gene studies. Recent epidemiologic work supports a greater role for outdoor activity in relieving myopia progression rather than the previous touted young-age near-work activity model.

SUMMARY

The identification of myopia susceptibility genes will not only provide insight into the molecular basis of this significant eye disorder, but will also identify pathways involved in eye growth and development. This effort may lead to effective therapies to treat or potentially prevent this common eye condition.

摘要

综述目的

近视,即近视眼,是世界上最常见的人类眼部疾病,也是一个重大的全球公共卫生问题。与白内障、黄斑变性、传染病和维生素A缺乏症一样,近视是全球视力损害的最重要原因之一。重度或高度近视是失明的主要原因,因为它伴有视网膜脱离、黄斑脉络膜变性、早发性白内障和青光眼等眼部合并症。大量的流行病学和分子遗传学研究支持这种非综合征形式疾病的遗传性。

最新发现

已确定多个近视基因位点,将这一疾病确定为一种常见的复杂疾病,并强调了基因探究研究的适用性。动物模型研究主要采用形觉剥夺技术,表明眼壁各层中多种生物物质的调节发生改变,这为确定人类候选基因研究的优先级提供了重要信息。最近的流行病学研究支持户外活动在缓解近视进展方面发挥更大作用,而不是此前备受吹捧的年轻时近距离工作活动模式。

总结

近视易感基因的鉴定不仅将深入了解这种重要眼部疾病的分子基础,还将确定参与眼睛生长和发育的途径。这一努力可能会带来治疗或潜在预防这种常见眼病的有效疗法。

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