PDF(Pubmed)
Abstract：
Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms. Primary childhood glaucoma stands as the most prevalent subtype, comprising primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Presently, multiple genes are implicated in inherited forms of primary childhood glaucoma. This comprehensive review delves into genetic investigations into primary childhood glaucoma, with a focus on identifying causative genes, understanding their inheritance patterns, exploring essential biological pathways in disease pathogenesis, and utilizing animal models to study these mechanisms. Specifically, attention is directed towards genes such as CYP1B1 (cytochrome P450 family 1 subfamily B member 1), LTBP2 (latent transforming growth factor beta binding protein 2), TEK (TEK receptor tyrosine kinase), ANGPT1 (angiopoietin 1), and FOXC1 (forkhead box C1), all associated with PCG; and MYOC (myocilin), associated with JOAG. Through exploring these genetic factors, this review aims to deepen our understanding of the intricate pathogenesis of primary childhood glaucoma, thereby facilitating the development of enhanced diagnostic and therapeutic strategies.
摘要：
儿童青光眼,全球失明的重要原因，代表分类为原发性或继发性形式的一组异质性疾病。原发性儿童青光眼是最常见的亚型，包括原发性先天性青光眼（PCG）和青少年开角型青光眼（JOAG）。目前,多种基因与遗传形式的原发性儿童青光眼有关。这篇全面的综述深入研究了原发性儿童青光眼的遗传研究，专注于识别致病基因，了解他们的继承模式，探索疾病发病机理中必不可少的生物学途径，并利用动物模型研究这些机制。具体来说,注意力集中在CYP1B1（细胞色素P450家族1亚家族B成员1）等基因上，LTBP2(潜伏转化生长因子β结合蛋白2),TEK（TEK受体酪氨酸激酶），ANGPT1（血管生成素1），和FOXC1（叉头箱C1），全部与PCG相关；和MYOC（肌蛋白），与JOAG有关。通过探索这些遗传因素,这篇综述旨在加深我们对原发性儿童青光眼复杂发病机制的理解，从而促进发展增强的诊断和治疗策略。
