{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:04:50Z","timestamp":1790697890104,"version":"4.1.0"},"reference-count":16,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12. Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin\/\u03b2-catenin signal activity occurs with the combination of 2 mutations.<\/jats:p>","DOI":"10.1177\/24741264241246864","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T01:57:55Z","timestamp":1713232675000},"page":"457-461","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in\n                    <i>LRP5<\/i>\n                    and\n                    <i>TSPAN12<\/i>"],"prefix":"10.1177","volume":"8","author":[{"given":"Andrew S.H.","family":"Tsai","sequence":"first","affiliation":[{"name":"Singapore National Eye Centre, DUKE-NUS Medical School, Singapore"},{"name":"Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1971-2249","authenticated-orcid":false,"given":"R.V. Paul","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Illinois Eye and Ear Infirmary, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Blair","sequence":"additional","affiliation":[{"name":"Retina Consultants, Ltd, Des Plaines, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Retina Consultants, Ltd, Des Plaines, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,4,15]]},"reference":[{"key":"bibr1-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(69)91237-9"},{"key":"bibr2-24741264241246864","doi-asserted-by":"publisher","DOI":"10.22608\/APO.201855"},{"key":"bibr3-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjo.2015.04.002"},{"key":"bibr4-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107720"},{"key":"bibr5-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0271326"},{"key":"bibr6-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.62.15.4"},{"key":"bibr7-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2014.70"},{"key":"bibr8-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.08.010"},{"key":"bibr9-24741264241246864","first-page":"473","volume":"93","author":"Benson WE.","year":"1995","journal-title":"Trans Am Ophthalmol Soc"},{"key":"bibr10-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-008-0949-6"},{"key":"bibr11-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2015.09.006"},{"key":"bibr12-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2014.08.009"},{"key":"bibr13-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/5782536"},{"key":"bibr14-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0438-8"},{"key":"bibr15-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.06.004"},{"key":"bibr16-24741264241246864","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn047"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264241246864","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/24741264241246864","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/24741264241246864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:25:51Z","timestamp":1790695551000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/24741264241246864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,15]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1177\/24741264241246864"],"URL":"https:\/\/doi.org\/10.1177\/24741264241246864","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,15]]}}}