Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA

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...

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Autores: Albertos-Arranz, H, Sanchez-Saez, X, Martinez-Gil, N, Pinilla, I, Coco-Martin, RM, Delgado, J, Cuenca, N
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Recursos:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
OAI Identifier:oai:isabial.fundanetsuite.com:p8311
Acesso em linha:https://isabial.portalinvestigacion.com/publicaciones8311
Access Level:acceso abierto
Palavra-chave:capillary dropout
choroidal dystrophies
microaneurysms
optical coherence tomography
optical coherence tomography angiography
outer hyperreflective bands
vascular loops
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spelling Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTAAlbertos-Arranz, HSanchez-Saez, XMartinez-Gil, NPinilla, ICoco-Martin, RMDelgado, JCuenca, Ncapillary dropoutchoroidal dystrophiesmicroaneurysmsoptical coherence tomographyoptical coherence tomography angiographyouter hyperreflective bandsvascular loopsChoroidal 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.MDPI2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://isabial.portalinvestigacion.com/publicaciones8311DiagnosticsISSN: 20754418reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteinstname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)Inglésinfo:eu-repo/semantics/openAccessoai:isabial.fundanetsuite.com:p83112026-06-12T10:20:37Z
dc.title.none.fl_str_mv Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
title Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
spellingShingle Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
Albertos-Arranz, H
capillary dropout
choroidal dystrophies
microaneurysms
optical coherence tomography
optical coherence tomography angiography
outer hyperreflective bands
vascular loops
title_short Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
title_full Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
title_fullStr Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
title_full_unstemmed Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
title_sort Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA
dc.creator.none.fl_str_mv Albertos-Arranz, H
Sanchez-Saez, X
Martinez-Gil, N
Pinilla, I
Coco-Martin, RM
Delgado, J
Cuenca, N
author Albertos-Arranz, H
author_facet Albertos-Arranz, H
Sanchez-Saez, X
Martinez-Gil, N
Pinilla, I
Coco-Martin, RM
Delgado, J
Cuenca, N
author_role author
author2 Sanchez-Saez, X
Martinez-Gil, N
Pinilla, I
Coco-Martin, RM
Delgado, J
Cuenca, N
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv capillary dropout
choroidal dystrophies
microaneurysms
optical coherence tomography
optical coherence tomography angiography
outer hyperreflective bands
vascular loops
topic capillary dropout
choroidal dystrophies
microaneurysms
optical coherence tomography
optical coherence tomography angiography
outer hyperreflective bands
vascular loops
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://isabial.portalinvestigacion.com/publicaciones8311
url https://isabial.portalinvestigacion.com/publicaciones8311
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Diagnostics
ISSN: 20754418
reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
instname_str Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
reponame_str r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
collection r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
repository.name.fl_str_mv
repository.mail.fl_str_mv
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