{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:23:24Z","timestamp":1781079804019,"version":"3.54.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,18]],"date-time":"2022-12-18T00:00:00Z","timestamp":1671321600000},"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":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loeys\u2013Dietz syndrome (LDS) is an autosomal\u2010dominant connective\u2010tissue disorder with vascular and musculoskeletal abnormalities similar to Marfan syndrome. However, unlike Marfan, retinal detachment (RD) is rarely reported, and screening protocols do not currently feature ophthalmic assessment or RD counseling. We report a 5\u2010generation family affected by LDS, where RD occurred in six eyes of four individuals. The proband was an 84\u2010year\u2010old male recently diagnosed with type\u2010V LDS (TGF\u03b23 pathogenic variant c.899G&gt;A, p.(Arg300Gln)). Further investigation was undertaken into the family's medical history. The proband experienced bilateral rhegmatogenous RD at age 60, requiring emergency surgical repair. Other notable ophthalmic features include unusual keratometry, abnormal biometry, and severe hayfever requiring long\u2010term sodium cromoglycate treatment. The proband's sister, father, and uncle had also experienced RDs, all prior to LDS diagnosis. This series demonstrates that RD risk may be significant in LDS, and on occasion the presenting clinical feature. We suggest ophthalmic examination should be added to the initial assessment LDS patients, and patients informed of the early warning symptoms of retinal detachment. As in Marfan syndrome, LDS patients may exhibit cornea plana and abnormal corneal topography, producing atypical biometry. They may also present with allergic conjunctivitis, and awareness of these signs might facilitate earlier diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63077","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T02:54:41Z","timestamp":1671418481000},"page":"846-849","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Retinal detachment in Loeys\u2013Dietz syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2977-2552","authenticated-orcid":false,"given":"Daniel","family":"Maghsoudi","sequence":"first","affiliation":[{"name":"Vitreoretinal Service Cambridge University NHS Foundation Trust, Addenbrooke's Hospital  Cambridge UK"},{"name":"Vitreoretinal Research Group, John van Geest Centre for Brain Repair University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas R. W.","family":"Nixon","sequence":"additional","affiliation":[{"name":"Vitreoretinal Service Cambridge University NHS Foundation Trust, Addenbrooke's Hospital  Cambridge UK"},{"name":"Vitreoretinal Research Group, John van Geest Centre for Brain Repair University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0042-8659","authenticated-orcid":false,"given":"Martin P.","family":"Snead","sequence":"additional","affiliation":[{"name":"Vitreoretinal Service Cambridge University NHS Foundation Trust, Addenbrooke's Hospital  Cambridge UK"},{"name":"Vitreoretinal Research Group, John van Geest Centre for Brain Repair University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61633"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2021.03.005"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2017-311254"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.02.022"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3006448"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2006.10.011"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.21037\/acs.2017.11.03"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100382"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63077","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.63077","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T01:35:54Z","timestamp":1692322554000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,18]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/ajmg.a.63077"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63077","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,18]]},"assertion":[{"value":"2022-06-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}