CYP1B1基因与青光眼

The CYP1B1 gene and Glaucoma

遗传性青光眼包括两种主要的类型,原发性开角型青光眼(primary open angle glaucoma,POAG)和原发性先天型青光眼(primary congenital glaucoma,PCG)眼前节发育不良(anterior segment dysgenesis,ASD)是眼发育异常的遗传异质性病,与增长的眼内压和青光眼有关,包括Peter's异常、Rieger's异常、无虹膜和虹膜发育不全。CYP1B1基因是PCG的致病基因,也有少数报道是POAG的修饰基因,或是POAG和ASD的致病基因。本文就CYP1B1基因突变与遗传性青光眼和ASD发育不全的关系及其遗传特点作一综述。

Hereditary glaucoma includes two main types, which are primary open angle glaucoma（POAG） and primary congeni- talglaucoma （PCG）.Agenetically heterogeneous group of develo pmental disorders known as anterior segment dysgenesis （ASD） have been reported to be associated with increased intraocular pressure （IOP） and glaucoma. These include Peter＇s anomaly, Rieger＇s anomaly, aniridia, iris hypoplasia, and iridogoniodysgenesis. Genetic linkage analysis and mutation studies have identified CYP1B1 as a virulence gene in PCG, as a modifier gene in POAG on rare occasions, or, as virulence gene in POAG as well as in several ASD disorders. The exact role of CYP1B1 in the pathogenesis of glaucoma and other ASD disorders remains to be elucidated. In this paper, we summarized the relation of CYP1B1 gene mutations with genetic glaucoma and ASD disorders, and review the hereditary characters.