{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T04:58:14Z","timestamp":1770267494024,"version":"3.49.0"},"reference-count":57,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\ua303o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ebm-journal.org"],"crossmark-restriction":true},"short-container-title":["Exp. Biol. Med."],"abstract":"<jats:p>\n                    The majority of cases of autosomal-dominant retinitis pigmentosa (adRP) are associated with rhodopsin\n                    <jats:italic>(RHO)<\/jats:italic>\n                    variants. More than 290 pathogenic variants responsible for 25%\u201330% of adRP cases have been identified to date. This retrospective report focuses on\n                    <jats:italic>RHO<\/jats:italic>\n                    and RP cases in the Brazilian population. Patients with molecular confirmation of pathogenic variants in the\n                    <jats:italic>RHO<\/jats:italic>\n                    gene were included. Their clinical and genetic data were analyzed. Segregation analyses were included where possible. Cases were classified as generalized RP or sector RP according to fundus examinations and imaging data. The medical records of 43 patients from 34 families with\n                    <jats:italic>RHO<\/jats:italic>\n                    -associated RP were reviewed. Twenty-two disease-causing variants of the\n                    <jats:italic>RHO gene<\/jats:italic>\n                    and four previously unreported variants (c.317G&amp;gt;T; c.937-2A&amp;gt;T, c.272_283del, and c.530+1G&amp;gt;C) were identified. The majority of cases involved missense variants. The most prevalent variant was c.551A&amp;gt;G, p.(Gln184Arg), which was identified in seven patients (21%) from four families. One patient presented with the splice donor variant c.530+1G&amp;gt;C in the homozygous state, which was classified as pathogenic. Thirty-two patients presented with a generalized RP phenotype, and six patients were diagnosed with sector RP. This study provides information on the clinical and genetic features of\n                    <jats:italic>RHO<\/jats:italic>\n                    -associated RP in the Brazilian population, expanding the spectrum of\n                    <jats:italic>RHO<\/jats:italic>\n                    gene disease-causing variant frequencies.\n                  <\/jats:p>","DOI":"10.3389\/ebm.2026.10893","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:55:46Z","timestamp":1770220546000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa"],"prefix":"10.3389","volume":"251","author":[{"given":"Rebeca A. S.","family":"Amaral","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Universidade Federal de S\u00e3o Paulo","place":["S\u00e3o Paulo, Brazil"]},{"name":"Instituto de Gen\u00e9tica Ocular","place":["S\u00e3o Paulo, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivia A.","family":"Zin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Universidade Federal de S\u00e3o Paulo","place":["S\u00e3o Paulo, Brazil"]},{"name":"Instituto Brasileiro de Oftalmologia (IBOL)","place":["Rio de Janeiro, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosane G.","family":"Resende","sequence":"additional","affiliation":[{"name":"Instituto de Olhos Carioca","place":["Rio de Janeiro, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debora N.","family":"Moraes","sequence":"additional","affiliation":[{"name":"Obras Sociais Irm\u00e3 Dulce","place":["Salvador, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana V.","family":"Salles","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Universidade Federal de S\u00e3o Paulo","place":["S\u00e3o Paulo, Brazil"]},{"name":"Instituto de Gen\u00e9tica Ocular","place":["S\u00e3o Paulo, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela D.","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Ocular","place":["S\u00e3o Paulo, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana L.","family":"Motta","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Universidade Federal de S\u00e3o Paulo","place":["S\u00e3o Paulo, Brazil"]},{"name":"Instituto de Gen\u00e9tica Ocular","place":["S\u00e3o Paulo, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana M. F.","family":"Sallum","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Universidade Federal de S\u00e3o Paulo","place":["S\u00e3o Paulo, Brazil"]},{"name":"Instituto de Gen\u00e9tica Ocular","place":["S\u00e3o Paulo, Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1016\/0092-8674(83)90537-8","article-title":"Isolation, sequence analysis, and intron-exon arrangement of the gene encoding bovine rhodopsin","volume":"34","author":"Nathans","year":"1983","journal-title":"Cell"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1302","DOI":"10.1056\/NEJM199011083231903","article-title":"Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa","volume":"323","author":"Dryja","year":"1990","journal-title":"N Engl J Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/343364a0","article-title":"A point mutation of the rhodopsin gene in one form of retinitis pigmentosa","volume":"343","author":"Dryja","year":"1990","journal-title":"Nature"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"The Lancet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"20815","DOI":"10.1038\/s41598-022-24636-1","article-title":"Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy","volume":"12","author":"Karali","year":"2022","journal-title":"Sci Rep"},{"key":"B6","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"key":"B7","doi-asserted-by":"publisher","first-page":"D609","DOI":"10.1093\/nar\/gkae1010","article-title":"UniProt: the universal protein knowledgebase in 2025","volume":"53","author":"Bateman","year":"2025","journal-title":"Nucleic Acids Res"},{"key":"B8","unstructured":"Franklin by genoox"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.2147\/OPTH.S293381","article-title":"Descriptive study of a cohort of 488 patients with inherited retinal dystrophies","volume":"15","author":"Coco-Martin","year":"2021","journal-title":"Clin Ophthalmol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.3390\/genes12121853","article-title":"Beyond sector retinitis pigmentosa: expanding the phenotype and natural history of the rhodopsin gene codon 106 mutation (Gly-to-Arg) in autosomal dominant retinitis pigmentosa","volume":"12","author":"Ballios","year":"2021","journal-title":"Genes (Basel)"},{"key":"B11","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1097\/IAE.0000000000002808","article-title":"Clinical characteristics and natural history of rho-associated retinitis pigmentosa","volume":"41","author":"Nguyen","year":"2021","journal-title":"Retina"},{"key":"B12","doi-asserted-by":"publisher","first-page":"101116","DOI":"10.1016\/j.preteyeres.2022.101116","article-title":"Rhodopsin, light-sensor of vision","volume":"93","author":"Hofmann","year":"2023","journal-title":"Prog. 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