{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T20:03:01Z","timestamp":1772136181677,"version":"3.50.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T00:00:00Z","timestamp":1647216000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T00:00:00Z","timestamp":1647216000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["FCT UID\/4950\/2020"],"award-info":[{"award-number":["FCT UID\/4950\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["FCT UID\/4950\/2020"],"award-info":[{"award-number":["FCT UID\/4950\/2020"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The purpose of this study is to characterize demographically and genetically the Portuguese population with retinoblastoma; to report the clinical stage at presentation and its impact on survival and ocular preservation rate and, finally, to assess the incidence of retinoblastoma in Portugal. Retrospective observational study including children consecutively diagnosed with retinoblastoma at the Portuguese National Referral Center of Intraocular Tumors, between October 2015 and October 2020. Twenty-eight children were diagnosed with retinoblastoma at our center, 15 hereditary from which 12 presented with bilateral retinoblastoma and 3 were unilateral. The overall mean age at diagnosis was 13.6\u2009\u00b1\u200911.1\u00a0months with hereditary retinoblastomas diagnosed slightly earlier at 9.6\u2009\u00b1\u20096.3\u00a0months. A familial history of retinoblastoma was found in only 4 (14.3%) of the cases. A pathogenic mutation in the\n                    <jats:italic>RB1<\/jats:italic>\n                    gene was found in 13 (46.4%) of the children. The most frequent sign at referral was leukocoria in 71.4% of patients. Considering the ICRB classification of the tumors, 84.6% of non-hereditable hereditary retinoblastomas were referred to our center in advanced stages. In the group of hereditable retinoblastomas 86.7% presented with one of the eyes with advanced intraocular retinoblastoma. Fourteen children had one eye enucleated due to retinoblastoma. No deaths were registered during the study period. Considering the incidence analysis, we registered a year-of-birth controlled incidence analysis of 4.04 per 100.000 living births (IC 95% 1.59\u20136.49). This is the first characterization of the Portuguese Population diagnosed with Retinoblastoma in the National Reference Center.\n                  <\/jats:p>","DOI":"10.1038\/s41598-022-08326-6","type":"journal-article","created":{"date-parts":[[2022,3,14]],"date-time":"2022-03-14T13:12:40Z","timestamp":1647263560000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterization of the Portuguese population diagnosed with retinoblastoma"],"prefix":"10.1038","volume":"12","author":[{"given":"Guilherme","family":"Castela","sequence":"first","affiliation":[]},{"given":"Joana","family":"Provid\u00eancia","sequence":"additional","affiliation":[]},{"given":"Madalena","family":"Monteiro","sequence":"additional","affiliation":[]},{"given":"Sonia","family":"Silva","sequence":"additional","affiliation":[]},{"given":"Manuel","family":"Brito","sequence":"additional","affiliation":[]},{"given":"Joaquim","family":"S\u00e1","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Oliveiros","sequence":"additional","affiliation":[]},{"given":"Joaquim Neto","family":"Murta","sequence":"additional","affiliation":[]},{"given":"Zelia","family":"Correa","sequence":"additional","affiliation":[]},{"given":"Miguel Castelo","family":"Branco","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,3,14]]},"reference":[{"key":"8326_CR1","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1136\/bjo.2008.150292","volume":"93","author":"T Kivel\u00e4","year":"2009","unstructured":"Kivel\u00e4, T. The epidemiological challenge of the most frequent eye cancer: Retinoblastoma, an issue of birth and death. Br. J. Ophthalmol. 93, 1129\u20131131 (2009).","journal-title":"Br. J. Ophthalmol."},{"key":"8326_CR2","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1001\/archopht.1980.01020040056003","volume":"98","author":"TW Pendergrass","year":"1980","unstructured":"Pendergrass, T. W. & Davis, S. Incidence of retinoblastoma in the United States. Arch. Ophthalmol. 98, 1204\u20131210 (1980).","journal-title":"Arch. Ophthalmol."},{"key":"8326_CR3","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1016\/j.ophtha.2003.10.023","volume":"111","author":"S Seregard","year":"2004","unstructured":"Seregard, S., Lundell, G., Svedberg, H. & Kivel\u00e4, T. Incidence of retinoblastoma from 1958 to 1998 in Northern Europe: Advantages of birth cohort analysis. Ophthalmology 111, 1228\u20131232 (2004).","journal-title":"Ophthalmology"},{"key":"8326_CR4","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2019.6716","author":"ID Fabian","year":"2020","unstructured":"Fabian, I. D. et al. Global retinoblastoma presentation and analysis by national income level. JAMA Oncol. https:\/\/doi.org\/10.1001\/jamaoncol.2019.6716 (2020).","journal-title":"JAMA Oncol."},{"key":"8326_CR5","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1086\/514845","volume":"61","author":"DR Lohmann","year":"1997","unstructured":"Lohmann, D. R. et al. Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma. Am. J. Hum. Genet. 61, 282\u2013294 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"8326_CR6","unstructured":"Lohmann, D. R. & Gallie, B. L. Retinoblastoma summary genetic counseling. GeneReviews 1\u201320 (2013)."},{"key":"8326_CR7","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/S1470-2045(13)70045-7","volume":"14","author":"DE Rushlow","year":"2013","unstructured":"Rushlow, D. E. et al. Characterisation of retinoblastomas without RB1 mutations: Genomic, gene expression, and clinical studies. Lancet Oncol. 14, 327\u2013334 (2013).","journal-title":"Lancet Oncol."},{"key":"8326_CR8","doi-asserted-by":"publisher","first-page":"2276","DOI":"10.1016\/j.ophtha.2006.06.018","volume":"113","author":"CL Shields","year":"2006","unstructured":"Shields, C. L. et al. The international classification of retinoblastoma predicts chemoreduction success. Ophthalmology 113, 2276\u20132280 (2006).","journal-title":"Ophthalmology"},{"key":"8326_CR9","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/s41433-018-0244-7","volume":"33","author":"M Jain","year":"2019","unstructured":"Jain, M. et al. Retinoblastoma in Asia. Eye 33, 87\u201396 (2019).","journal-title":"Eye"}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-022-08326-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-022-08326-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-022-08326-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T19:09:29Z","timestamp":1669316969000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-022-08326-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,14]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["8326"],"URL":"https:\/\/doi.org\/10.1038\/s41598-022-08326-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-1013449\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,14]]},"assertion":[{"value":"24 October 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 February 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"4378"}}