RT Journal Article
T1 Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma
A1 García Antón, María Teresa
A1 Salazar Corral, Juan José
A1 Hoz Montañana, María Rosa De
A1 Rojas López, María Blanca
A1 Ramírez Sebastián, Ana Isabel
A1 Triviño Casado, Alberto
A1 Aroca Aguilar, José Daniel
A1 García Feijoo, Julián
A1 Escribano, Julio
A1 Ramírez Sebastián, José Manuel
AB 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.
PB Public Library Science
SN 1932-6203
YR 2017
FD 2017-04-27
LK https://hdl.handle.net/20.500.14352/17809
UL https://hdl.handle.net/20.500.14352/17809
LA eng
NO García Antón, M. T., Salazar Corral, J. J., Hoz Montañana, M. R. et al. «Goniodysgenesis Variability and Activity of CYP1B1 Genotypes in Primary Congenital Glaucoma». PLOS ONE, editado por Michael G. Anderson, vol. 12, n.o 4, abril de 2017, p. e0176386. DOI.org (Crossref), https://doi.org/10.1371/journal.pone.0176386.
NO © 2017 García-Antón et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Received: October 27, 2016; Accepted: April 10, 2017; Published: April 27, 2017
NO OFTARED
NO Instituto de Salud Carlos III/Ministerio de Economía, Comercio y Empresa (España)
NO Ministerio de Educación, Formación Profesional y Deportes (España)
NO Fondo Europeo de Desarrollo Regional
NO Ministerio de Sanidad (España)
DS Docta Complutense
RD 29 abr 2025