Genetic profile of syndromic retinitis pigmentosa in Portugal
| Main Author: | |
|---|---|
| Publication Date: | 2024 |
| Other Authors: | , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Source: | Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| Download full: | http://hdl.handle.net/10362/162352 |
Summary: | Funding Information: Open access funding provided by FCT|FCCN (b-on). Part of this research was supported by EJPRD19-234 (Solve-RET) (to CR) regarding patients from Instituto Gama Pinto (IOGP). No other funding was received. Publisher Copyright: © 2024, The Author(s). |
| id |
RCAP_48e6677b31bfe59c6c15ef1035aa82d5 |
|---|---|
| oai_identifier_str |
oai:run.unl.pt:10362/162352 |
| network_acronym_str |
RCAP |
| network_name_str |
Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| repository_id_str |
https://opendoar.ac.uk/repository/7160 |
| spelling |
Genetic profile of syndromic retinitis pigmentosa in PortugalGenotypeInherited retinal diseasesOphthalmic geneticsSyndromic retinitis pigmentosaOphthalmologySensory SystemsCellular and Molecular NeuroscienceFunding Information: Open access funding provided by FCT|FCCN (b-on). Part of this research was supported by EJPRD19-234 (Solve-RET) (to CR) regarding patients from Instituto Gama Pinto (IOGP). No other funding was received. Publisher Copyright: © 2024, The Author(s).Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. Methods: Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. Results: One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). Conclusion: This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients in Portugal.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)iNOVA4Health - pólo NMSRUNCortinhal, TelmoSantos, CristinaVaz-Pereira, SaraMarta, AnaDuarte, LilianneMiranda, VitorCosta, JoséSousa, Ana BertaPeter, Virginie G.Kaminska, KarolinaRivolta, CarloCarvalho, Ana LuísaSaraiva, JorgeSoares, Célia AzevedoSilva, RufinoMurta, JoaquimSantos, Luísa CoutinhoMarques, João Pedro2024-01-16T22:36:35Z2024-062024-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/162352eng0721-832XPURE: 81471274https://doi.org/10.1007/s00417-023-06360-2info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-01-13T01:40:03Zoai:run.unl.pt:10362/162352Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T17:47:59.226964Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse |
| dc.title.none.fl_str_mv |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| title |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| spellingShingle |
Genetic profile of syndromic retinitis pigmentosa in Portugal Cortinhal, Telmo Genotype Inherited retinal diseases Ophthalmic genetics Syndromic retinitis pigmentosa Ophthalmology Sensory Systems Cellular and Molecular Neuroscience |
| title_short |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| title_full |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| title_fullStr |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| title_full_unstemmed |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| title_sort |
Genetic profile of syndromic retinitis pigmentosa in Portugal |
| author |
Cortinhal, Telmo |
| author_facet |
Cortinhal, Telmo Santos, Cristina Vaz-Pereira, Sara Marta, Ana Duarte, Lilianne Miranda, Vitor Costa, José Sousa, Ana Berta Peter, Virginie G. Kaminska, Karolina Rivolta, Carlo Carvalho, Ana Luísa Saraiva, Jorge Soares, Célia Azevedo Silva, Rufino Murta, Joaquim Santos, Luísa Coutinho Marques, João Pedro |
| author_role |
author |
| author2 |
Santos, Cristina Vaz-Pereira, Sara Marta, Ana Duarte, Lilianne Miranda, Vitor Costa, José Sousa, Ana Berta Peter, Virginie G. Kaminska, Karolina Rivolta, Carlo Carvalho, Ana Luísa Saraiva, Jorge Soares, Célia Azevedo Silva, Rufino Murta, Joaquim Santos, Luísa Coutinho Marques, João Pedro |
| author2_role |
author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) iNOVA4Health - pólo NMS RUN |
| dc.contributor.author.fl_str_mv |
Cortinhal, Telmo Santos, Cristina Vaz-Pereira, Sara Marta, Ana Duarte, Lilianne Miranda, Vitor Costa, José Sousa, Ana Berta Peter, Virginie G. Kaminska, Karolina Rivolta, Carlo Carvalho, Ana Luísa Saraiva, Jorge Soares, Célia Azevedo Silva, Rufino Murta, Joaquim Santos, Luísa Coutinho Marques, João Pedro |
| dc.subject.por.fl_str_mv |
Genotype Inherited retinal diseases Ophthalmic genetics Syndromic retinitis pigmentosa Ophthalmology Sensory Systems Cellular and Molecular Neuroscience |
| topic |
Genotype Inherited retinal diseases Ophthalmic genetics Syndromic retinitis pigmentosa Ophthalmology Sensory Systems Cellular and Molecular Neuroscience |
| description |
Funding Information: Open access funding provided by FCT|FCCN (b-on). Part of this research was supported by EJPRD19-234 (Solve-RET) (to CR) regarding patients from Instituto Gama Pinto (IOGP). No other funding was received. Publisher Copyright: © 2024, The Author(s). |
| publishDate |
2024 |
| dc.date.none.fl_str_mv |
2024-01-16T22:36:35Z 2024-06 2024-06-01T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10362/162352 |
| url |
http://hdl.handle.net/10362/162352 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
0721-832X PURE: 81471274 https://doi.org/10.1007/s00417-023-06360-2 |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.source.none.fl_str_mv |
reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia instacron:RCAAP |
| instname_str |
FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia |
| instacron_str |
RCAAP |
| institution |
RCAAP |
| reponame_str |
Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| collection |
Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| repository.name.fl_str_mv |
Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia |
| repository.mail.fl_str_mv |
info@rcaap.pt |
| _version_ |
1833596971908071424 |