先天泪道发育不全的临床特征和致病基因的研究进展

Research advances in pathogenic genes and clinical characteristics of congenital lacrimal passage dysplasia

泪道病是眼科的常见病和多发病,其中先天性泪道发育异常为较严重的一种,患者痛苦较大,临床治疗较困难。部分先天性泪道发育不全有明显的遗传倾向,因此,其致病基因的筛查日益成为眼科领域研究的热点之一。在先天性泪道发育不全疾病中,有些是单基因遗传病,有些是多基因遗传病,致病基因与致病突变位点都存在异质性,而且不同地域或民族间也有较大差异。近年来,有关先天性泪道发育不全的基因诊断的研究取得了较大的进展,本文综述了泪道的胚胎发育和先天泪道发育不全的临床特征、先天泪道发育不全相关的致病基因研究进展。

Lacrimal passage diseases are common and frequently encountered eye diseases, and congenital lacrimal passage dysplasia is the serious one. Many congenital lacrimal passage dysplasia diseases have a distinct genetic predisposition, and their screening has become one of the hottest topics in clinical ophthalmology. Plenty of studies found that some of congenital lacrimal passage dysplasia diseases were ploygenic disorders and others were single-gene disorders. The geographic and ethnic difference, as well as the heterogeneity of pathogenic genes and mutation sites were frequent observed in these diseases. In recent years, many related researches about the pathogenic genes and mutation sites were subsequently reported. This paper reviewed the embryonic development and progress of researches in clinical characteristics and pathogenic genes of congenital lacrimal passage dysplasia.