Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy

Abstract: The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an o...

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Autores: Matioli da Palma, Mariana, Motta, Fabiana Bouise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V., Casaroli Marano, Ricardo Pedro, Sallum, Juliana
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/183745
Acceso en línea:https://hdl.handle.net/2445/183745
Access Level:acceso abierto
Palabra clave:Cristal·lí
Malalties hereditàries
Crystalline lens
Genetic diseases
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spelling Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophyMatioli da Palma, MarianaMotta, Fabiana BouiseSalles, Mariana VallimTexeira, Caio Henrique MarquesGomes, André V.Casaroli Marano, Ricardo PedroSallum, JulianaCristal·líMalalties hereditàriesCrystalline lensGenetic diseasesAbstract: The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802‐8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder. Keywords: bietti crystalline dystrophy; CYP4V2 protein; genetic testing; missense mutation; insertion‐deletion mutationMDPI2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/183745Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció del document publicat a: https://doi.org/10.3390/genes12050713Genes, 2021, vol. 12, num. 5, p. 713https://doi.org/10.3390/genes12050713cc-by (c) Matioli da Palma, Mariana et al., 2021https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/1837452026-05-27T06:46:51Z
dc.title.none.fl_str_mv Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
title Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
spellingShingle Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
Matioli da Palma, Mariana
Cristal·lí
Malalties hereditàries
Crystalline lens
Genetic diseases
title_short Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
title_full Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
title_fullStr Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
title_full_unstemmed Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
title_sort Expanding the phenotypic and genotypic spectrum of Bietti crystalline dystrophy
dc.creator.none.fl_str_mv Matioli da Palma, Mariana
Motta, Fabiana Bouise
Salles, Mariana Vallim
Texeira, Caio Henrique Marques
Gomes, André V.
Casaroli Marano, Ricardo Pedro
Sallum, Juliana
author Matioli da Palma, Mariana
author_facet Matioli da Palma, Mariana
Motta, Fabiana Bouise
Salles, Mariana Vallim
Texeira, Caio Henrique Marques
Gomes, André V.
Casaroli Marano, Ricardo Pedro
Sallum, Juliana
author_role author
author2 Motta, Fabiana Bouise
Salles, Mariana Vallim
Texeira, Caio Henrique Marques
Gomes, André V.
Casaroli Marano, Ricardo Pedro
Sallum, Juliana
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Cristal·lí
Malalties hereditàries
Crystalline lens
Genetic diseases
topic Cristal·lí
Malalties hereditàries
Crystalline lens
Genetic diseases
description Abstract: The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802‐8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder. Keywords: bietti crystalline dystrophy; CYP4V2 protein; genetic testing; missense mutation; insertion‐deletion mutation
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://hdl.handle.net/2445/183745
url https://hdl.handle.net/2445/183745
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3390/genes12050713
Genes, 2021, vol. 12, num. 5, p. 713
https://doi.org/10.3390/genes12050713
dc.rights.none.fl_str_mv cc-by (c) Matioli da Palma, Mariana et al., 2021
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Matioli da Palma, Mariana et al., 2021
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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