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Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma

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García Antón, María Teresa and Salazar Corral, Juan José and Hoz Montañana, Rosa de and Rojas López, Blanca and Ramírez Sebastián, Ana Isabel and Triviño Casado, Alberto and Aroca Aguilar, José Daniel and García Feijoo, Julián and Escribano, Julio and Ramirez Sebastian, Jose Manuel (2017) Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. PLoS ONE, 12 (4). e0176386. ISSN 1932-6203

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Official URL: https://doi.org/10.1371/journal.pone.0176386




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.


Item Type:Article
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© 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

Uncontrolled Keywords:Mutations; PCG; Primary Congenial Glaucoma; Blindess in children; Goniodysgenesis
Subjects:Medical sciences > Medicine > Medical genetics
Medical sciences > Medicine > Ophtalmology
ID Code:42822
Deposited On:02 Jun 2017 11:39
Last Modified:06 Jun 2017 10:15

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