{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T12:25:56Z","timestamp":1747398356375},"reference-count":31,"publisher":"SLACK, Inc.","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Surg Lasers Imaging Retina"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:p>\n            A 2-year-old child was referred to the authors' pediatric retina service for bilateral retinal folds, strabismus, and psychomotor retardation, as well as marked thinning of the corpus callosum. Family history was unremarkable and genetic testing revealed a previously undescribed mutation in the\n            <jats:italic>LRP5<\/jats:italic>\n            gene. Widefield fundus photography, fluorescein angiography, and spectral-domain optical coherence tomography were used to image the retinal fundus. The authors' case suggests a correlation between\n            <jats:italic>LRP5<\/jats:italic>\n            and neurological development, since its variants may lead to a syndromic condition characterized by FEVR-like abnormalities along with neurodevelopmental delay and hypoplasia of the corpus callosum.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              [\n              <jats:italic>Ophthalmic Surg Lasers Imaging Retina.<\/jats:italic>\n              2020;51:588\u2013591.]\n            <\/jats:bold>\n          <\/jats:p>","DOI":"10.3928\/23258160-20201005-07","type":"journal-article","created":{"date-parts":[[2020,10,26]],"date-time":"2020-10-26T15:48:57Z","timestamp":1603727337000},"page":"588-591","source":"Crossref","is-referenced-by-count":1,"title":["Familial Exudative Vitreoretinopathy With Neurodevelopmental Delay and Hypoplasia of the Corpus Callosum"],"prefix":"10.3928","volume":"51","author":[{"given":"Giulia M.","family":"Amorelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Costanza","family":"Barresi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco H.","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Orazi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Molle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico","family":"Lepore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2308","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(69)91237-9"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2019.100493"},{"issue":"1","key":"e_1_3_1_4_2","first-page":"40","article-title":"Falciform retinal fold as sign of familial exudative vitreoretinopathy","volume":"27","author":"Nishimura M","year":"1983","unstructured":"Nishimura M, Yamana T, Sugino M, et al. Falciform retinal fold as sign of familial exudative vitreoretinopathy. Jpn J Ophthalmol. 1983;27(1):40\u201353. https:\/\/pubmed.ncbi.nlm.nih.gov\/6855020\/. Internet. PMID:6855020","journal-title":"Jpn J Ophthalmol"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.121.8.1200"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)70899-2"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2011.06.002"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.05.029"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-16065"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/08820530701745124"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2019.100480"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15680"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-21324"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-22577"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2019.0212"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.107941"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw041"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.84.4.358"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.012"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-180"},{"key":"e_1_3_1_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:5<396::AID-HUMU3>3.0.CO;2-2"},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1159\/000453266"},{"key":"e_1_3_1_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32695"},{"key":"e_1_3_1_24_2","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-019-9268-y"},{"key":"e_1_3_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.03.044"},{"key":"e_1_3_1_26_2","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.050101"},{"key":"e_1_3_1_27_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0131768"},{"key":"e_1_3_1_28_2","doi-asserted-by":"publisher","DOI":"10.1086\/383202"},{"key":"e_1_3_1_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20191"},{"key":"e_1_3_1_30_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2014.2814"},{"key":"e_1_3_1_31_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1723118"},{"key":"e_1_3_1_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2019.05.001"}],"container-title":["Ophthalmic Surgery, Lasers and Imaging Retina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.healio.com\/doiresolver?doi=10.3928\/23258160-20201005-07","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T15:40:32Z","timestamp":1683042032000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.healio.com\/doi\/10.3928\/23258160-20201005-07"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.3928\/23258160-20201005-07"],"URL":"https:\/\/doi.org\/10.3928\/23258160-20201005-07","relation":{},"ISSN":["2325-8160","2325-8179"],"issn-type":[{"value":"2325-8160","type":"print"},{"value":"2325-8179","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10]]}}}