{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T17:35:45Z","timestamp":1782236145480,"version":"3.54.5"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:sec>\n            <jats:title>Purpose of review<\/jats:title>\n            <jats:p>The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Recent findings<\/jats:title>\n            <jats:p>Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. Recently, novel retinal findings have been described in association with the disease.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Summary<\/jats:title>\n            <jats:p>Numerous ocular features have been described in Williams-Beuren syndrome. Some of them, such as the stellate pattern of the iris or the retinal arteriolar tortuosity may be helpful for the diagnosis but have no significant clinical implications; others, such as strabismus and refractive errors require early treatment to reduce the risk of irreversible visual impairment. Finally, some features, such as a broad foveal pit and thinner retina still have unknown significance and require further longitudinal and multimodal studies.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/icu.0000000000000990","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T10:15:00Z","timestamp":1692267300000},"page":"514-521","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Ocular features in Williams-Beuren syndrome: a review of the literature"],"prefix":"10.1097","volume":"34","author":[{"given":"Marco","family":"Nassisi","sequence":"first","affiliation":[{"name":"Ophthalmology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico"},{"name":"Department of Clinical Sciences and Community Health, University of Milan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Mainetti","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Aretti","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health, University of Milan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Sperti","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences and Community Health, University of Milan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Nicotra","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department Woman Child Newborn, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berardo","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department Woman Child Newborn, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Natacci","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department Woman Child Newborn, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department Woman Child Newborn, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Viola","sequence":"additional","affiliation":[{"name":"Ophthalmology Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico"},{"name":"Department of Clinical Sciences and Community Health, University of Milan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"R1-20250730","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1161\/01.CIR.24.6.1311","article-title":"Supravalvular aortic stenosis","volume":"24","author":"Williams","year":"1961","journal-title":"Circulation"},{"key":"R2-20250730","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1161\/01.CIR.26.6.1235","article-title":"Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance","volume":"26","author":"Beuren","year":"1962","journal-title":"Circulation"},{"key":"R3-20250730","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1177\/088307380201700406","article-title":"Prevalence estimation of Williams syndrome","volume":"17","author":"Str\u00f8mme","year":"2002","journal-title":"J Child Neurol"},{"key":"R4-20250730","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1111\/pan.13620","article-title":"Williams syndrome","volume":"29","author":"Twite","year":"2019","journal-title":"Paediatr Anaesth"},{"key":"R5-20250730","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1056\/NEJMra0903074","article-title":"Williams-Beuren syndrome","volume":"362","author":"Pober","year":"2010","journal-title":"N Engl J Med"},{"key":"R6-20250730","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1016\/S0161-6420(88)32959-3","article-title":"The Williams syndrome. 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