{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:51:26Z","timestamp":1777438286556,"version":"3.51.4"},"reference-count":63,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T00:00:00Z","timestamp":1713571200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Council for Scientific and Technological Development","award":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"],"award-info":[{"award-number":["CNPq\/MS\/SCTIE\/DECIT N\u00ba 25\/2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet\u2013Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases.<\/jats:p>","DOI":"10.3390\/genes15040516","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T09:53:52Z","timestamp":1713779632000},"page":"516","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Syndromic Retinitis Pigmentosa: A 15-Patient Study"],"prefix":"10.3390","volume":"15","author":[{"given":"Ianne Pessoa","family":"Holanda","sequence":"first","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priscila Hae Hyun","family":"Rim","sequence":"additional","affiliation":[{"name":"Ambulat\u00f3rio de Gen\u00e9tica Ocular, Departamento de Oftalmologia e Otorrinolaringologia, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Rare Genomes Project Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6508-8571","authenticated-orcid":false,"given":"Mara Sanches","family":"Guaragna","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5148-3063","authenticated-orcid":false,"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Gen\u00e9tica M\u00e9dica e Medicina Gen\u00f4mica, Departamento de Medicina Translacional, Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. 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