Relative frequency of inherited retinal dystrophies in Brazil

Abstract Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary r...

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Autores principales:	Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Inherited Retinal Dystrophies (IRDs) Leber Congenital Amaurosis Brazilian Public Health System Stargardt's Disease (STGD) Bietti Crystalline Dystrophy Medicine R Science Q
Acceso en línea:	https://doaj.org/article/825c6000d54f4fc3a589f10f5427b4d6
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spelling	oai:doaj.org-article:825c6000d54f4fc3a589f10f5427b4d62021-12-02T11:41:24ZRelative frequency of inherited retinal dystrophies in Brazil10.1038/s41598-018-34380-02045-2322https://doaj.org/article/825c6000d54f4fc3a589f10f5427b4d62018-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-34380-0https://doaj.org/toc/2045-2322Abstract Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these patients, 559 had undergone at least one genetic test. In this cohort, the most prevalent dystrophies were non-syndromic retinitis pigmentosa (35%), Stargardt disease (21%), Leber congenital amaurosis (9%), and syndromic inherited retinal dystrophies (12%). Most patients had never undergone genetic testing (55%), and among the individuals with molecular test results, 28.4% had negative or inconclusive results compared to 71.6% with a conclusive molecular diagnosis. ABCA4 was the most frequent disease-causing gene, accounting for 20% of the positive cases. Pathogenic variants also occurred frequently in the CEP290, USH2A, CRB1, RPGR, and CHM genes. The relative frequency rates of different inherited retinal dystrophies in Brazil are similar to those found globally. Although mutations in more than 250 genes lead to hereditary retinopathies, only 66 genes were responsible for 70% of the cases, which indicated that smaller and cheaper gene panels can be just as effective and provide more affordable solutions for implementation by the Brazilian public health system.Fabiana Louise MottaRenan Paulo MartinRafael Filippelli-SilvaMariana Vallim SallesJuliana Maria Ferraz SallumNature PortfolioarticleInherited Retinal Dystrophies (IRDs)Leber Congenital AmaurosisBrazilian Public Health SystemStargardt's Disease (STGD)Bietti Crystalline DystrophyMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Inherited Retinal Dystrophies (IRDs) Leber Congenital Amaurosis Brazilian Public Health System Stargardt's Disease (STGD) Bietti Crystalline Dystrophy Medicine R Science Q
spellingShingle	Inherited Retinal Dystrophies (IRDs) Leber Congenital Amaurosis Brazilian Public Health System Stargardt's Disease (STGD) Bietti Crystalline Dystrophy Medicine R Science Q Fabiana Louise Motta Renan Paulo Martin Rafael Filippelli-Silva Mariana Vallim Salles Juliana Maria Ferraz Sallum Relative frequency of inherited retinal dystrophies in Brazil
description	Abstract Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246 Brazilian patients with hereditary retinopathies during 20 years of specialized outpatient clinic care. Of these patients, 559 had undergone at least one genetic test. In this cohort, the most prevalent dystrophies were non-syndromic retinitis pigmentosa (35%), Stargardt disease (21%), Leber congenital amaurosis (9%), and syndromic inherited retinal dystrophies (12%). Most patients had never undergone genetic testing (55%), and among the individuals with molecular test results, 28.4% had negative or inconclusive results compared to 71.6% with a conclusive molecular diagnosis. ABCA4 was the most frequent disease-causing gene, accounting for 20% of the positive cases. Pathogenic variants also occurred frequently in the CEP290, USH2A, CRB1, RPGR, and CHM genes. The relative frequency rates of different inherited retinal dystrophies in Brazil are similar to those found globally. Although mutations in more than 250 genes lead to hereditary retinopathies, only 66 genes were responsible for 70% of the cases, which indicated that smaller and cheaper gene panels can be just as effective and provide more affordable solutions for implementation by the Brazilian public health system.
format	article
author	Fabiana Louise Motta Renan Paulo Martin Rafael Filippelli-Silva Mariana Vallim Salles Juliana Maria Ferraz Sallum
author_facet	Fabiana Louise Motta Renan Paulo Martin Rafael Filippelli-Silva Mariana Vallim Salles Juliana Maria Ferraz Sallum
author_sort	Fabiana Louise Motta
title	Relative frequency of inherited retinal dystrophies in Brazil
title_short	Relative frequency of inherited retinal dystrophies in Brazil
title_full	Relative frequency of inherited retinal dystrophies in Brazil
title_fullStr	Relative frequency of inherited retinal dystrophies in Brazil
title_full_unstemmed	Relative frequency of inherited retinal dystrophies in Brazil
title_sort	relative frequency of inherited retinal dystrophies in brazil
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/825c6000d54f4fc3a589f10f5427b4d6
work_keys_str_mv	AT fabianalouisemotta relativefrequencyofinheritedretinaldystrophiesinbrazil AT renanpaulomartin relativefrequencyofinheritedretinaldystrophiesinbrazil AT rafaelfilippellisilva relativefrequencyofinheritedretinaldystrophiesinbrazil AT marianavallimsalles relativefrequencyofinheritedretinaldystrophiesinbrazil AT julianamariaferrazsallum relativefrequencyofinheritedretinaldystrophiesinbrazil
_version_	1718395407964307456

Relative frequency of inherited retinal dystrophies in Brazil

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