2024-03-29T11:40:02Zhttps://uvadoc.uva.es/oai/requestoai:uvadoc.uva.es:10324/596952023-05-25T19:00:21Zcom_10324_1138com_10324_931com_10324_894col_10324_1226
Albertos Arranz, Henar
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600
Sánchez Sáez, Xavier
f78dde6d-fa6e-47e9-9726-0c7cde59b3c8
Martínez Gil, Natalia
80b2187c-c7f2-458a-81fe-b18317dc203c
Pinilla Lozano, Isabel
e320b3bd-ac24-4dda-b886-58bbdd1652fa
600
Coco Martín, Rosa María
758a62723cc8d07a
600
0000-0002-1811-1417
Delgado Fernández, Jesús
09f9a285-386f-40d4-bcf8-008ee762e8f1
Cuenca Navarro, Nicolás
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2023-05-25T11:59:00Z
2023-05-25T11:59:00Z
2021
Diagnostics, 2021, Vol. 11, Nº. 5, 777
2075-4418
https://uvadoc.uva.es/handle/10324/59695
10.3390/diagnostics11050777
777
5
Diagnostics
11
2075-4418
Producción Científica
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.
Ministerio de Ciencia e Innovación y Fondo Europeo de Desarrollo Regional (FEDER) - (grants PID2019-106230RB-I00, RD16/0008/0001)
Ministerio de universidades - (grants FPU16/04114 and FPU18/02964)
Instituto de Salud Carlos III - (grant RETICS-FEDER RD16/0008/0016)
Asociación Retina Asturias/Cantabria, FARPE-FUNDALUCE y Generalitat Valenciana - (grant IDIFEDER/2017/064)
application/pdf
eng
MDPI
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
© 2021 The authors
Atribución 4.0 Internacional
Ophthalmology
Eye - Diseases
Ojo - Enfermedades y defectos
Retina - Diseases
Retina - Enfermedades
Optical coherence tomography
Eye - Diseases - Tomography
3201.09 Oftalmología
Phenotypic differences in a PRPH2 mutation in members of the same family assessed with OCT and OCTA
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
https://www.mdpi.com/2075-4418/11/5/777
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https://uvadoc.uva.es/bitstream/10324/59695/4/Phenotypic-Differences-in-a-PRPH2-Mutation.pdf.jpg
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LICENSE
license.txt
license.txt
text/plain
3929
https://uvadoc.uva.es/bitstream/10324/59695/3/license.txt
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MD5
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CC-LICENSE
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921
https://uvadoc.uva.es/bitstream/10324/59695/2/license_rdf
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Phenotypic-Differences-in-a-PRPH2-Mutation.pdf
Phenotypic-Differences-in-a-PRPH2-Mutation.pdf
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https://uvadoc.uva.es/bitstream/10324/59695/1/Phenotypic-Differences-in-a-PRPH2-Mutation.pdf
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2023-05-25 21:00:21.783
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