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原发性先天性青光眼中CYP1B1基因的前房角发育异常变异性及活性

Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

作者信息

García-Antón María T, Salazar Juan J, de Hoz Rosa, Rojas Blanca, Ramírez Ana I, Triviño Alberto, Aroca-Aguilar José-Daniel, García-Feijoo Julián, Escribano Julio, Ramírez José M

机构信息

Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Universidad Complutense de Madrid, Madrid, Spain.

Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain.

出版信息

PLoS One. 2017 Apr 27;12(4):e0176386. doi: 10.1371/journal.pone.0176386. eCollection 2017.

DOI:10.1371/journal.pone.0176386
PMID:28448622
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5407778/
Abstract

Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for transmission electron microscopy. Patients were classified into three groups depending on goniodysgenesis severity, which was influenced by CYP1B1 enzymatic activity. The main histological changes observed in the outflow pathway of patients with PCG and mutations in CYP1B1 were: i) underdeveloped collector channels and the Schlemm's canal; ii) abnormal insertion of the ciliary muscle; iii) death of the trabecular endothelial cells. Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations.

摘要

CYP1B1基因的突变是目前已知的原发性先天性青光眼（PCG）的主要遗传病因，PCG是导致儿童失明的主要原因。在此，我们首次分析了人类PCG中CYP1B1基因的基因型活性以及微观和临床表型。对PCG患者（n = 5）小梁切除术的手术切片以及尸体供体的巩膜角膜缘（n = 3）进行处理，用于透射电子显微镜检查。根据受CYP1B1酶活性影响的前房角发育不全严重程度，将患者分为三组。在PCG患者且CYP1B1基因发生突变的患者流出途径中观察到的主要组织学变化为：i）集合管和施莱姆管发育不全；ii）睫状肌插入异常；iii）小梁内皮细胞死亡。我们的研究结果可能有助于改进与CYP1B1突变相关的PCG的治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14a6/5407778/95b62aad6a28/pone.0176386.g013.jpg
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