Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/32022
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dc.contributor.authorGarcía-Antón, María T
dc.contributor.authorSalazar, Juan J
dc.contributor.authorde Hoz, Rosa
dc.contributor.authorRojas, Blanca
dc.contributor.authorRamírez, Ana I
dc.contributor.authorTriviño, Alberto
dc.contributor.authorAroca-Aguilar, José-Daniel
dc.contributor.authorGarcía-Feijoo, Julián
dc.contributor.authorEscribano, Julio
dc.contributor.authorRamírez, José M
dc.date.accessioned2019-06-28T16:52:20Z-
dc.date.available2019-06-28T16:52:20Z-
dc.date.issued2017
dc.identifier.citationPLoS ONE.2017;(12)4:e0176386
dc.identifier.urihttps://hdl.handle.net/20.500.12530/32022-
dc.description.abstractMutations 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.
dc.language.isoeng
dc.rightsopenAccess-
dc.subject.meshAdolescent
dc.subject.meshChild
dc.subject.meshCytochrome P-450 CYP1B1
dc.subject.meshFemale
dc.subject.meshGlaucoma
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshPhenotype
dc.subject.meshGenotype
dc.titleGoniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
dc.typeArtículo
dc.identifier.pubmedID28448622
dc.format.volume12
dc.format.pagee0176386
dc.identifier.e-issn1932-6203
dc.identifier.journalPloS one
dc.identifier.doi10.1371/journal.pone.0176386
dc.format.number4
dc.identifier.pmcPMC5407778
dc.pubmedtypeCase Reports
dc.pubmedtypeJournal Article
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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