{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:23:26Z","timestamp":1790630606005,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down syndrome is the most common chromosomal disorder, affecting 1\/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. A cross\u2010sectional study including 1,207 patients medical records were done, which 492 (40.8%) had some ophthalmological disorder. These data were subjected to descriptive analysis using Statistica software. Among the 492 patients with any ophthalmological disease, the need for glasses was found in 434 (36%) patients, keratoconus in 254 (42.1%), congenital cataract in 27 (15.1%), nasolacrimal duct obstruction in 25 (2.0%), strabismus in 22 (1.9%), nystagmus in four (0.3%), and juvenile cataract in two (0.2%). Two young adults with keratoconus underwent corneal transplantation. Although the prevalence of an ophthalmological disease among the present sample (40.8%) was lower than described in the current literature, it still reinforced the importance of routine and early evaluations in infants. These should begin at 6 months of age and be repeated half\u2010year until 2\u2009years old, annually until 7\u2009years old, biennial in adolescents, and triennial in adults and elderly. Our findings of a high frequency of keratoconus support a detailed corneal study in such patients for early detection and treatment.<\/jats:p>","DOI":"10.1002\/ajmg.a.61845","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T08:34:24Z","timestamp":1600418064000},"page":"2641-2645","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Ophthalmological abnormalities in Down syndrome among Brazilian patients"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2027-7221","authenticated-orcid":false,"given":"Beatriz Elizabeth Bagatin Veleda","family":"Bermudez","sequence":"first","affiliation":[{"name":"Down Syndrome Outpatient Clinic Federal University of Paran\u00e1  Paran\u00e1 Brazil"},{"name":"Integrated Medicine Department Federal University of Paran\u00e1 Curitiba  Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Eduarda","family":"de Souza do Amaral","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic Federal University of Paran\u00e1  Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"da Silva Gomes","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic Federal University of Paran\u00e1  Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iolanda Maria","family":"Novadzki","sequence":"additional","affiliation":[{"name":"Down Syndrome Outpatient Clinic Federal University of Paran\u00e1  Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila Maciel","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Integrated Medicine Department Federal University of Paran\u00e1 Curitiba  Paran\u00e1 Brazil"},{"name":"Researcher at Global Co\u2010Creation Lab MIT  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crislaine Caroline","family":"Serpe","sequence":"additional","affiliation":[{"name":"Integrated Medicine Department Federal University of Paran\u00e1 Curitiba  Paran\u00e1 Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.5301\/ejo.5000222"},{"issue":"8","key":"e_1_2_7_3_1","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1136\/bjo.2010.185827","article-title":"Development and distribution of refractive error in children with Down's syndrome","volume":"95","author":"Al\u2010Bagdady M.","year":"2011","journal-title":"The British Journal of Ophthalmology"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2018.2373"},{"issue":"5","key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1542\/peds.93.5.855","article-title":"Health supervision for children with Down syndrome","volume":"93","author":"American Academy of Pediatrics Committee on Genetics (AAP).","year":"1994","journal-title":"Pediatrics"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011-1605"},{"key":"e_1_2_7_7_1","unstructured":"CampbellS.Keratoconus in Down's syndrome. 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