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dc.contributor.authorAlbertos Arranz, Henar
dc.contributor.authorSánchez Sáez, Xavier
dc.contributor.authorMartínez Gil, Natalia
dc.contributor.authorPinilla Lozano, Isabel
dc.contributor.authorCoco Martín, Rosa María 
dc.contributor.authorDelgado Fernández, Jesús
dc.contributor.authorCuenca Navarro, Nicolás
dc.date.accessioned2023-05-25T11:59:00Z
dc.date.available2023-05-25T11:59:00Z
dc.date.issued2021
dc.identifier.citationDiagnostics, 2021, Vol. 11, Nº. 5, 777es
dc.identifier.issn2075-4418es
dc.identifier.urihttps://uvadoc.uva.es/handle/10324/59695
dc.descriptionProducción Científicaes
dc.description.abstractChoroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish a correct clinical diagnosis. The objective of this study was to characterize new clinical findings by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) in these patients. Four family members with a PRPH2 gene mutation (p.Arg195Leu) were included. OCT was performed at the macula, and the thickness of the outer and inner retina, total retina, and choroid was measured. The features of the vascular network were analyzed by OCTA. Patients showed a decreased outer nuclear layer in the avascular area compared with the controls. Two patients presented greater foveal and parafoveal degeneration of the outer retina, whereas the most degenerated area in the rest was the perifovea. Disruption of the third outer band at the foveola is one of the first-altered outer bands. Slow blood flow areas or capillary dropout were main signs in the deep capillary plexus. Microaneurysms were frequently observed in less degenerated retinas. Vascular loops and intraretinal microvascular abnormalities (IRMAs) were present in the superficial plexus. Extensive degeneration of the choriocapillaris was detected. Phenotypic differences were found between patients: two showed central areolar choroidal dystrophy and the rest had extensive chorioretinal atrophy. These signs observed in OCT and OCTA can help to more appropriately define the clinical disease in patients with choroidal dystrophies.es
dc.format.mimetypeapplication/pdfes
dc.language.isoenges
dc.publisherMDPIes
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectOphthalmologyes
dc.subjectEye - Diseaseses
dc.subjectOjo - Enfermedades y defectoses
dc.subjectRetina - Diseaseses
dc.subjectRetina - Enfermedadeses
dc.subjectOptical coherence tomographyes
dc.subjectEye - Diseases - Tomographyes
dc.titlePhenotypic differences in a PRPH2 mutation in members of the same family assessed with OCT and OCTAes
dc.typeinfo:eu-repo/semantics/articlees
dc.rights.holder© 2021 The authorses
dc.identifier.doi10.3390/diagnostics11050777es
dc.relation.publisherversionhttps://www.mdpi.com/2075-4418/11/5/777es
dc.identifier.publicationfirstpage777es
dc.identifier.publicationissue5es
dc.identifier.publicationtitleDiagnosticses
dc.identifier.publicationvolume11es
dc.peerreviewedSIes
dc.description.projectMinisterio de Ciencia e Innovación y Fondo Europeo de Desarrollo Regional (FEDER) - (grants PID2019-106230RB-I00, RD16/0008/0001)es
dc.description.projectMinisterio de universidades - (grants FPU16/04114 and FPU18/02964)es
dc.description.projectInstituto de Salud Carlos III - (grant RETICS-FEDER RD16/0008/0016)es
dc.description.projectAsociación Retina Asturias/Cantabria, FARPE-FUNDALUCE y Generalitat Valenciana - (grant IDIFEDER/2017/064)es
dc.identifier.essn2075-4418es
dc.rightsAtribución 4.0 Internacional*
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersiones
dc.subject.unesco3201.09 Oftalmologíaes


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