Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma

PLoS One

Blanca Rojas¹  José-Daniel Aroca-Aguilar¹  Juan J. Salazar¹  José M. Ramírez¹  Ana I. Ramírez²  Julián García-Feijoo²  Alberto Triviño³  Julio Escribano³  María T. García-Antón³  Rosa de Hoz³ 

[1] Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain;Departamento de Oftalmología y ORL, Facultad de Óptica y Optometría, Universidad Complutense de Madrid, Madrid, Spain;Instituto de Investigaciones Oftalmológicas Ramón Castroviejo, Universidad Complutense de Madrid, Madrid, Spain

关键词: Collagens;    Endothelial cells;    Trabeculectomy;    Trabecular meshwork;    Glaucoma;    Eye muscles;    Eyes;    Surgical and invasive medical procedures;   

DOI  :  10.1371/journal.pone.0176386

学科分类：医学（综合）

来源: Public Library of Science

【 摘 要 】

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.

【 授权许可】

CC BY