Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
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Título: | Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA |
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Autor/es: | Albertos Arranz, Henar | Sánchez-Sáez, Xavier | Martínez Gil, Natalia | Pinilla Lozano, Isabel | Coco-Martin, Rosa M. | Delgado, Jesús | Cuenca, Nicolás |
Grupo/s de investigación o GITE: | Neurobiología del Sistema Visual y Terapia de Enfermedades Neurodegenerativas (NEUROVIS) |
Centro, Departamento o Servicio: | Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología |
Palabras clave: | Capillary dropout | Choroidal dystrophies | Microaneurysms | Optical coherence tomography | Optical coherence tomography angiography | Outer hyperreflective bands | Vascular loops |
Área/s de conocimiento: | Biología Celular | Fisiología |
Fecha de publicación: | 26-abr-2021 |
Editor: | MDPI |
Cita bibliográfica: | Albertos-Arranz H, Sánchez-Sáez X, Martínez-Gil N, Pinilla I, Coco-Martin RM, Delgado J, Cuenca N. Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA. Diagnostics. 2021; 11(5):777. https://doi.org/10.3390/diagnostics11050777 |
Resumen: | Choroidal 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. |
Patrocinador/es: | This research was funded by grants from the Spanish Ministry of Science and Innovation (FEDER- PID2019-106230RB-I00, RD16/0008/0001), Spanish Ministry of Universities (FPU16/04114 and FPU18/02964), Instituto de Salud Carlos III (RETICS-FEDER RD16/0008/0016), Asociación Retina Asturias/Cantabria, FARPE-FUNDALUCE, and Generalitat Valenciana (IDIFEDER/2017/064). |
URI: | http://hdl.handle.net/10045/114687 |
ISSN: | 2075-4418 |
DOI: | 10.3390/diagnostics11050777 |
Idioma: | eng |
Tipo: | info:eu-repo/semantics/article |
Derechos: | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
Revisión científica: | si |
Versión del editor: | https://doi.org/10.3390/diagnostics11050777 |
Aparece en las colecciones: | INV - NEUROVIS - Artículos de Revistas |
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