Glaucoma is a leading cause of blindness, estimated to affect 60 million people by 2010, and represents a heterogeneous group of neurodegenerative disease. The two major types of glaucoma include primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG). A genetically heterogeneous group of developmental disorders known as anterior segment dysgenesis (ASD) have been reported to be associated with increased intraocular pressure (IOP) and glaucoma. These include Peters' anomaly, Rieger's anomaly, aniridia, iris hypoplasia, and iridogoniodysgenesis. Genetic linkage analysis and mutation studies have identified CYP1B1 as a causative gene in PCG, as a modifier gene in POAG, and, on rare occasions, as causative gene in POAG as well as in several ASD disorders. CYP1B1-deficient mice exhibit abnormalities in their ocular drainage structure and trabecular meshwork that are similar to those reported in human PCG patients. Accordingly, it is speculated that diminished or absent metabolism of key endogenous CYP1B1 substrates adversely affects the development of the trabecular meshwork. CYP1B1 protein is involved in the metabolism of steroids, retinol and retinal, arachidonate, and melatonin. The conserved expression of CYP1B1 in both murine and human eyes, its higher expression in fetal than adult eyes, and its biochemical properties are consistent with this hypothesis. The exact role of CYP1B1 in the pathogenesis of glaucoma and other ASD disorders remains to be elucidated.

中文翻译：

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CYP1B1在青光眼中的作用。

青光眼是失明的主要原因，据估计到2010年将影响6000万人，并且是神经退行性疾病的异质性群体。青光眼的两种主要类型包括原发性开角型青光眼（POAG）和原发性先天性青光眼（PCG）。遗传性发育障碍的遗传异质性群体被称为前节发育不全（ASD），与眼内压升高（IOP）和青光眼有关。这些包括彼得斯异常，里格异常，无虹膜，虹膜发育不全和虹膜异位症。遗传连锁分析和突变研究已确定CYP1B1是PCG中的致病基因，是POAG中的修饰基因，在极少数情况下，也是POAG和几种ASD疾病中的致病基因。CYP1B1缺陷型小鼠的眼部引流结构和小梁网异常，与人类PCG患者的异常相似。因此，推测关键内源性CYP1B1底物的代谢减少或缺乏对小梁网的发育产生不利影响。CYP1B1蛋白参与类固醇，视黄醇和视网膜，花生四烯酸和褪黑激素的代谢。CYP1B1在鼠和人眼中均保守表达，在胎儿中比成年人眼中表达更高，并且其生化特性与此假设相符。CYP1B1在青光眼和其他ASD疾病的发病机理中的确切作用仍有待阐明。据推测，关键的内源性CYP1B1底物的代谢减少或缺乏会不利地影响小梁网的发育。CYP1B1蛋白参与类固醇，视黄醇和视网膜，花生四烯酸和褪黑激素的代谢。CYP1B1在鼠和人眼中均保守表达，在胎儿中比成年人眼中表达更高，并且其生化特性与此假设相符。CYP1B1在青光眼和其他ASD疾病的发病机理中的确切作用仍有待阐明。据推测，关键的内源性CYP1B1底物的代谢减少或缺乏会不利地影响小梁网的发育。CYP1B1蛋白参与类固醇，视黄醇和视网膜，花生四烯酸和褪黑激素的代谢。CYP1B1在鼠和人眼中均保守表达，在胎儿中比成年人眼中表达更高，并且其生化特性与此假设相符。CYP1B1在青光眼和其他ASD疾病的发病机理中的确切作用仍有待阐明。它在胎儿中的表达比成年人的眼睛更高，并且其生化特性与此假说相符。CYP1B1在青光眼和其他ASD疾病的发病机理中的确切作用仍有待阐明。它在胎儿中的表达比成年人的眼睛更高，并且其生化特性与此假说相符。CYP1B1在青光眼和其他ASD疾病的发病机理中的确切作用仍有待阐明。