Myopia genetics: a review of current research and emerging trends.
Myopia genetics: a review of current research and emerging trends.
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DOI：
10.1097/icu.0b013e32832f8040
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发表时间：
2009-09
影响因子：
3.7
通讯作者：
Young TL
中科院分区：
文献类型：
--
作者：
Hornbeak DM;Young TL
近视是世界上最常见的人类眼部疾病，是一个重要的全球公共卫生问题。沿着白内障、黄斑变性、感染性疾病和维生素A缺乏，近视是世界范围内视力损害的最重要原因之一。严重或高度近视是失明的主要原因，因为其相关的眼部共病视网膜脱离、黄斑脉络膜变性、早发性白内障和青光眼。大量的流行病学和分子遗传学研究支持这种疾病的非综合征形式的遗传性。多个近视遗传位点已被确定，建立作为一种常见的复杂的疾病，并强调基因调查研究的适用性。主要使用形觉剥夺技术的动物模型研究暗示了眼壁层中多种生物物质的调节改变，这为优先进行人类候选基因研究提供了重要信息。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的作用，而不是以前吹捧的年轻人近距离工作活动模型。近视易感基因的鉴定不仅可以深入了解这种重要眼部疾病的分子基础，还可以确定参与眼睛生长和发育的途径。这一努力可能会导致有效的治疗方法来治疗或潜在地预防这种常见的眼部疾病。
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 co-morbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample epidemiologic and molecular genetic studies support heritability of the non-syndromic forms of this condition. 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. 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.