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原发性先天性青光眼的研究进展

An Insight into Primary Congenital Glaucoma.

机构信息

University Institute of Medical Lab Technology, Faculty of Allied Health Sciences, University of Lahore, Lahore, Pakistan.

出版信息

Crit Rev Eukaryot Gene Expr. 2020;30(1):39-43. doi: 10.1615/CritRevEukaryotGeneExpr.2020027901.

Abstract

Glaucoma is the second most prominent cause of impaired vision in the world. Over 60 million individuals are presently affected, and 12 million are sightless as a result. Primary congenital glaucoma (PCG) is a childhood disease that can lead to blindness in newborns and very young children. The rate of occurrence of PCG varies in different communities and across geographical boundaries, and its etiology is unknown. It is caused by genetic structural defects in the trabecular meshwork and makes its appearence in newborns and children no older than three years. PCG is most prevalent in populations with high rates of consanguineous marriages. It is categorized by inappropriate development of the eye's aqueous outflow system, causing increased intraocular pressure (IOP) and leading to swelling of the cornea, epiphora, discomfort or pain, enlargement of the eyeball (buphthalmos), corneal opacity, and optic nerve damage. PCG is classified as an autosomal recessive disorder involving four loci. The main culprit is CYP1B1, at locus GLC3A. PCG is also linked with loci GLC3B and GLC3C; however, their genetic factors have only recently been recognized. The gene LTPB2 at locus GLC3D, plays an important role in tissue healing and cell attachment. Trabeculectomy and gonioscopy are effective treatments for PCG. Additional efforts are essential to provide timely screening of children and, most important, to assign sufficient resources to allow healthcare workers to reduce the rate of avoidable blindness in developing countries.

摘要

青光眼是全球第二大致盲眼病。目前有超过 6000 万人受到影响,其中 1200 万人失明。原发性先天性青光眼(PCG)是一种儿童疾病,可导致新生儿和非常年幼的儿童失明。PCG 的发病率在不同社区和地理边界有所不同,其病因尚不清楚。它是由小梁网的遗传结构缺陷引起的,在新生儿和三岁以下儿童中出现。PCG 在高发近亲结婚人群中最为常见。它的特征是眼睛房水流出系统的发育异常,导致眼内压(IOP)升高,导致角膜肿胀、流泪、不适或疼痛、眼球增大(牛眼)、角膜混浊和视神经损伤。PCG 被归类为涉及四个基因座的常染色体隐性遗传病。主要罪魁祸首是 CYP1B1,位于 GLC3A 基因座上。PCG 还与 GLC3B 和 GLC3C 基因座有关;然而,它们的遗传因素直到最近才被认识到。GLC3D 基因座上的 LTPB2 基因在组织愈合和细胞附着中起着重要作用。小梁切除术和房角镜检查是治疗 PCG 的有效方法。需要做出更多努力,为儿童提供及时的筛查,最重要的是,分配足够的资源,使保健工作者能够降低发展中国家可避免失明的发生率。

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