眼轴长度的遗传决定因素:从儿童小眼到高度近视。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY
Daniel Jackson, Mariya Moosajee
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引用次数: 1

摘要

眼睛的轴向长度对正常的视觉功能至关重要,它使光线能够精确地聚焦在视网膜上。成人眼的平均眼轴长度为23.5 mm,但调节眼轴长度的分子机制尚不清楚。发育不全可导致小眼症(定义为1岁时眼轴长度小于19毫米,成年后眼轴长度小于21毫米)在妊娠头三个月发生。然而,在任何年龄,持续的过度生长都可能导致轴向高度近视(眼轴长度为26.5毫米或更长)。这两种情况都显示出高度的遗传和表型异质性,与世界范围内显著的视觉发病率相关。超过90个基因与小眼有关,数百个基因与近视有关,但诊断率很低。至关重要的是,支持眼睛大小规范的遗传途径直到现在才被发现,有证据表明,共同的分子途径调节着眼睛的生长不足或过度。提高我们对眼轴长度决定的机制理解将有助于我们更好地了解小眼和近视的基因型-表型相关性,剖析近视的基因-环境相互作用,并开发可能影响整体眼睛生长的产后治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood.

The axial length of the eye is critical for normal visual function by enabling light to precisely focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the molecular mechanisms regulating ocular axial length remain poorly understood. Underdevelopment can lead to microphthalmia (defined as a small eye with an axial length of less than 19 mm at 1 year of age or less than 21 mm in adulthood) within the first trimester of pregnancy. However, continued overgrowth can lead to axial high myopia (an enlarged eye with an axial length of 26.5 mm or more) at any age. Both conditions show high genetic and phenotypic heterogeneity associated with significant visual morbidity worldwide. More than 90 genes can contribute to microphthalmia, and several hundred genes are associated with myopia, yet diagnostic yields are low. Crucially, the genetic pathways underpinning the specification of eye size are only now being discovered, with evidence suggesting that shared molecular pathways regulate under- or overgrowth of the eye. Improving our mechanistic understanding of axial length determination will help better inform us of genotype-phenotype correlations in both microphthalmia and myopia, dissect gene-environment interactions in myopia, and develop postnatal therapies that may influence overall eye growth.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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