Gordon-Shaag Ariela, Millodot Michel, Shneor Einat, Liu Yutao
Department of Optometry and Vision Science, Hadassah Academic College, 9101001 Jerusalem, Israel.
School of Optometry, The Hong Kong Polytechnic University, Hung Hom, Hong Kong.
Biomed Res Int. 2015;2015:795738. doi: 10.1155/2015/795738. Epub 2015 May 17.
Keratoconus (KC) is the most common cornea ectatic disorder. It is characterized by a cone-shaped thin cornea leading to myopia, irregular astigmatism, and vision impairment. It affects all ethnic groups and both genders. Both environmental and genetic factors may contribute to its pathogenesis. This review is to summarize the current research development in KC epidemiology and genetic etiology. Environmental factors include but are not limited to eye rubbing, atopy, sun exposure, and geography. Genetic discoveries have been reviewed with evidence from family-based linkage analysis and fine mapping in linkage region, genome-wide association studies, and candidate genes analyses. A number of genes have been discovered at a relatively rapid pace. The detailed molecular mechanism underlying KC pathogenesis will significantly advance our understanding of KC and promote the development of potential therapies.
圆锥角膜（KC）是最常见的角膜扩张性疾病。其特征是角膜呈圆锥形变薄，导致近视、不规则散光和视力损害。它影响所有种族和性别。环境因素和遗传因素都可能导致其发病机制。这篇综述旨在总结圆锥角膜流行病学和遗传病因学的当前研究进展。环境因素包括但不限于揉眼、特应性、阳光照射和地理位置。已根据基于家系的连锁分析、连锁区域的精细定位、全基因组关联研究以及候选基因分析的证据对遗传发现进行了综述。已经以相对较快的速度发现了许多基因。圆锥角膜发病机制背后的详细分子机制将显著增进我们对圆锥角膜的理解，并促进潜在治疗方法的发展。
