{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:32:14Z","timestamp":1787841134351,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Traboulsi syndrome is a rare genetic disorder characterized by dysmorphic facial features and ectopia lentis with high myopia. This condition is often associated with anterior segment abnormalities and spontaneous filtering blebs. Here, we present three children (siblings and one cousin) of one Saudi family with clinical features and genetic profiles consistent with this syndrome. Homozygous variant c.2062C&gt;T, p.(Arg688*) gene were identified. Features such as anterior segment abnormalities and spontaneous filtering blebs were not present. One child was operated on in both eyes for lens subluxation by lens aspiration, anterior vitrectomy, and scleral-fixated intraocular lens implantation. Four months after surgery, uncorrected visual acuity was 20\/20 in the right eye and 20\/22.5 in the left eye. There was no spontaneous filtration bleb before or following surgery.<\/jats:p>","DOI":"10.4103\/sjopt.sjopt_219_24","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T07:00:10Z","timestamp":1747983610000},"page":"99-102","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Ophthalmic manifestations and management of Traboulsi syndrome in three children of a Saudi family"],"prefix":"10.4103","volume":"40","author":[{"given":"Amal","family":"Alhemidan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled","family":"Al Qahtani","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"key":"R1-20260416","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1002\/bdr2.1413","article-title":"Population-based birth defects data in the United States, 2011\u20132015: A focus on eye and ear defects","volume":"110","author":"Stallings","year":"2018","journal-title":"Birth Defects Res"},{"key":"R3-20260416","doi-asserted-by":"crossref","first-page":"104572","DOI":"10.1016\/j.ejmg.2022.104572","article-title":"Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome","volume":"65","author":"Jones","year":"2022","journal-title":"Eur J Med 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A"},{"key":"R11-20260416","doi-asserted-by":"crossref","first-page":"226","DOI":"10.4103\/sjopt.sjopt_172_23","article-title":"Management of ectopia lentis in children","volume":"38","author":"Mandal","year":"2024","journal-title":"Saudi J Ophthalmol"},{"key":"R12-20260416","doi-asserted-by":"crossref","first-page":"95","DOI":"10.7181\/acfs.2022.00689","article-title":"Current strategies for aesthetic soft tissue refinement in nasal reconstruction","volume":"23","author":"Kim","year":"2022","journal-title":"Arch Craniofac Surg"}],"container-title":["Saudi Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/sjopt.sjopt_219_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:43:16Z","timestamp":1787838196000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/sjopt.sjopt_219_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,21]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/sjopt.sjopt_219_24","relation":{},"ISSN":["1319-4534","2542-6680"],"issn-type":[{"value":"1319-4534","type":"print"},{"value":"2542-6680","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,21]]},"assertion":[{"value":"2024-08-20","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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