Shiels Alan, Hejtmancik J Fielding
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO 63110, USA.
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1860, USA.
Exp Eye Res. 2017 Mar;156:95-102. doi: 10.1016/j.exer.2016.06.011. Epub 2016 Jun 19.
The crystalline lens plays an important role in the refractive vision of vertebrates by facilitating variable fine focusing of light onto the retina. Loss of lens transparency, or cataract, is a frequently acquired cause of visual impairment in adults and may also present during childhood. Genetic studies have identified mutations in over 30 causative genes for congenital or other early-onset forms of cataract as well as several gene variants associated with age-related cataract. However, the pathogenic mechanisms resulting from genetic determinants of cataract are only just beginning to be understood. Here, we briefly summarize current concepts pointing to differences in the molecular mechanisms underlying congenital and age-related forms of cataract.
晶状体通过促进光线可变的精细聚焦到视网膜上，在脊椎动物的屈光视觉中发挥重要作用。晶状体透明度丧失，即白内障，是成人常见的后天性视力损害原因，也可能在儿童期出现。遗传学研究已经确定了30多种先天性或其他早发性白内障致病基因的突变，以及几种与年龄相关性白内障相关的基因变异。然而，由白内障遗传决定因素导致的致病机制才刚刚开始被理解。在这里，我们简要总结当前的概念，指出先天性和年龄相关性白内障潜在分子机制的差异。
