Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations

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dc.contributor.authorMorales Fernández, Laura
dc.contributor.authorMartínez De La Casa Fernández-Borrella, José María
dc.contributor.authorGarcía Bella, Javier
dc.contributor.authorMéndez Hernández, Carmen D.
dc.contributor.authorSaenz Frances, Federico
dc.contributor.authorGarcía Antón, Maite
dc.contributor.authorEscribano, Julio
dc.contributor.authorGarcía Feijoo, Julián
dc.dateReceived May 15, 2013; Accepted March 11, 2014
dc.date.accessioned2023-06-18T05:42:33Z
dc.date.available2023-06-18T05:42:33Z
dc.date.issued2015-10
dc.description.abstractBackground: Primary congenital glaucoma (PCG) is a rare disease. In around a third of Spanish patients, the disease is attributed to mutations in the CYP1B1 gene inherited in an autosomal recessive manner. Such mutations are the main known genetic cause of PCG. Case Report: We describe the case of a family with 3 of 7 siblings diagnosed with PCG. In a genetic study of the CYP1B1 gene, 2 null mutations were identified in the affected siblings (R355fsX69/T404fsX38). Two of the 4 healthy siblings were heterozygous for mutation R355fsX69 and the remaining 2 had no mutations. The healthy parents were found to be heterozygous for mutations T404fsX38 (mother) and R355fsX69 (father). High variation in the expression of PCG was observed, especially in terms of disease onset and severity: Patient 1 in the eldest affected sibling, PCG was diagnosed at 8 years of age and is presently stable after 60 months of medical treatment; patient 2 the second affected child underwent surgery at 7 days of age. Today, at 104 months, she has undergone 2 operations on the right eye and 3 on the left eye; patient 3 the youngest sibling, the disease also manifested at birth and the boy underwent surgery at 4 days. Currently he is 84 months old, he has required 7 operations for glaucoma, 3 in the right eye and 4 in the left. Conclusions: This clinical case reveals the etiological relationship between CYP1B1 mutations and PCG. In addition, it indicates a highly variable clinical picture associated with a single disease genotype mainly affecting disease onset and progression.en
dc.description.departmentUnidad Docente de Inmunología, Oftalmología y ORL
dc.description.facultyFac. de Óptica y Optometría
dc.description.refereedTRUE
dc.description.statuspub
dc.eprint.idhttps://eprints.ucm.es/id/eprint/41220
dc.identifier.citationMorales Fernández, L., Martínez De La Casa Fernández-Borrella, J. M., García Bella, J. et al. «Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations»: Journal of Glaucoma, vol. 24, n.o 8, 2015, pp. 630-34. DOI.org (Crossref), https://doi.org/10.1097/IJG.0000000000000067.
dc.identifier.doi10.1097/IJG.0000000000000067
dc.identifier.issn1057-0829
dc.identifier.officialurlhttp://dx.doi.org/10.1097/IJG.0000000000000067
dc.identifier.urihttps://hdl.handle.net/20.500.14352/23120
dc.issue.number8
dc.journal.titleJournal of Glaucoma
dc.language.isoeng
dc.page.final634
dc.page.initial630
dc.publisherWolters Kluwer Health
dc.rights.accessRightsrestricted access
dc.subject.cdu575:617.7
dc.subject.cdu617.7-007.681
dc.subject.cdu617.749
dc.subject.keywordPrimary congenital glaucoma
dc.subject.keywordCYP1B1 gene
dc.subject.keywordGenotype-phenotype
dc.subject.ucmOftalmología
dc.subject.ucmGenética
dc.subject.unesco3201.09 Oftalmología
dc.subject.unesco2409 Genética
dc.titleClinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutationsen
dc.typejournal article
dc.volume.number24
dspace.entity.typePublication
relation.isAuthorOfPublication273a99c3-2c9f-4dd0-8939-b7ff3593124c
relation.isAuthorOfPublication558b8023-6d72-4dff-9f99-2e60f6f31843
relation.isAuthorOfPublication.latestForDiscovery558b8023-6d72-4dff-9f99-2e60f6f31843
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