{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:06:27Z","timestamp":1790697987492,"version":"4.1.0"},"reference-count":44,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["GR004596-1"],"award-info":[{"award-number":["GR004596-1"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH CENTER CORE GRANT","award":["P30EY014801"],"award-info":[{"award-number":["P30EY014801"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    <jats:bold>Purpose:<\/jats:bold>\n                    To report a rare case of Down\u2013Klinefelter syndrome associated with bilateral congenital posterior polar cataracts and a novel\n                    <jats:italic toggle=\"yes\">MAPKAPK3<\/jats:italic>\n                    gene mutation.\n                    <jats:bold>Methods:<\/jats:bold>\n                    A single case was reviewed.\n                    <jats:bold>Results:<\/jats:bold>\n                    A 2-month-old male neonate presented with dysmorphic features, including a flat facial profile, low-set ears, and upslanting palpebral fissures, along with bilateral absence of the red reflex. Ocular examination revealed bilateral congenital posterior polar cataracts. Genetic testing confirmed Down\u2013Klinefelter syndrome (48,XXY,+21) and identified a novel mutation in the MAPK-activated protein kinase 3 gene (MAPKAPK3, c.1039G&gt;A, p.Asp347Asn). While characteristic features of Down syndrome were evident, manifestations of Klinefelter syndrome were not yet apparent owing to the patient\u2019s young age. The patient underwent bilateral pars plana vitrectomy and lensectomy to prevent the development of nystagmus, amblyopia, and strabismus.\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    Down\u2013Klinefelter syndrome (48,XXY,+21) is a rare chromosomal disorder. This case is notable for the coexistence of classic Down syndrome features, genomic confirmation of Klinefelter syndrome, and a previously unreported\n                    <jats:italic toggle=\"yes\">MAPKAPK3<\/jats:italic>\n                    mutation. Close and long-term follow-up will be essential to understand the clinical implications of this unique genetic combination.\n                  <\/jats:p>","DOI":"10.1177\/24741264261418584","type":"journal-article","created":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T02:15:12Z","timestamp":1772331312000},"page":"814-818","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["A Newborn With Down\u2013Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel\n                    <i>MAPKAPK3<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5643-5300","authenticated-orcid":false,"given":"Nancy","family":"Arias-Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel A.","family":"Balikov","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Ciccioli","sequence":"additional","affiliation":[{"name":"Diplomatura Gen\u00e9tica Ocular, Universidad Cat\u00f3lica Argentina, Buenos Aires, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherin I.","family":"Negron","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Uyen","family":"Hua","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davina A.","family":"Malek","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2446-2184","authenticated-orcid":false,"given":"Audina M.","family":"Berrocal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,2,28]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/apa.14505"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0143-7"},{"key":"e_1_3_3_4_2","unstructured":"CDC. 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