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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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>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-L\u00f8ken 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. <jats:italic>USH2A<\/jats:italic> and <jats:italic>MYO7A<\/jats:italic> were responsible for most type II and type I Usher syndrome cases, respectively. <jats:italic>BBS1<\/jats:italic> 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\u00a0months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent\u2009~\u200920\/80), declining to 44.9 ETDRS letters (Snellen equivalent\u2009~\u200920\/125) at the last available follow-up (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00417-023-06360-2","type":"journal-article","created":{"date-parts":[[2024,1,8]],"date-time":"2024-01-08T10:02:53Z","timestamp":1704708173000},"page":"1883-1897","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic profile of syndromic retinitis pigmentosa in Portugal"],"prefix":"10.1007","volume":"262","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9016-9031","authenticated-orcid":false,"given":"Telmo","family":"Cortinhal","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4751-2180","authenticated-orcid":false,"given":"Cristina","family":"Santos","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6125-5486","authenticated-orcid":false,"given":"Sara","family":"Vaz-Pereira","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3495-4649","authenticated-orcid":false,"given":"Ana","family":"Marta","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3953-0730","authenticated-orcid":false,"given":"Lilianne","family":"Duarte","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4480-5225","authenticated-orcid":false,"given":"Vitor","family":"Miranda","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6026-1929","authenticated-orcid":false,"given":"Jos\u00e9","family":"Costa","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5889-2492","authenticated-orcid":false,"given":"Ana Berta","family":"Sousa","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8157-9568","authenticated-orcid":false,"given":"Virginie G.","family":"Peter","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4720-5527","authenticated-orcid":false,"given":"Karolina","family":"Kaminska","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0733-9950","authenticated-orcid":false,"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[]},{"given":"Ana Lu\u00edsa","family":"Carvalho","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Saraiva","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0091","authenticated-orcid":false,"given":"C\u00e9lia Azevedo","family":"Soares","sequence":"additional","affiliation":[]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[]},{"given":"Joaquim","family":"Murta","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6181-4505","authenticated-orcid":false,"given":"Lu\u00edsa Coutinho","family":"Santos","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"6360_CR1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","volume":"66","author":"SK Verbakel","year":"2018","unstructured":"Verbakel SK, van Huet RAC, Boon CJF et al (2018) Non-syndromic retinitis pigmentosa. 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