{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T07:51:16Z","timestamp":1770623476753,"version":"3.49.0"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100013050","name":"Guangdong Provincial Applied Science and Technology Research and Development Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002402","name":"Sun Yat-sen University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002402","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1016\/j.exer.2019.107720","type":"journal-article","created":{"date-parts":[[2019,7,9]],"date-time":"2019-07-09T01:59:30Z","timestamp":1562637570000},"page":"107720","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"special_numbering":"C","title":["Symmetry of folds in FEVR: A genotype-phenotype correlation study"],"prefix":"10.1016","volume":"186","author":[{"given":"Zhirong","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chonglin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Limei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiyuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengxi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2019.107720_bib1","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s12862-019-1400-9","article-title":"Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene","volume":"19","author":"S","year":"2019","journal-title":"BMC Evol. Biol."},{"key":"10.1016\/j.exer.2019.107720_bib2","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1016\/j.ophtha.2014.05.029","article-title":"Diversity of retinal vascular anomalies in patients with familial exudative vitreoretinopathy","volume":"121","author":"AH","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2019.107720_bib4","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1080\/13816810802705755","article-title":"A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy","volume":"30","author":"Aponte","year":"2009","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2019.107720_bib5","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1515\/JPEM.2008.21.8.811","article-title":"Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation","volume":"21","author":"Barros","year":"2008","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"10.1016\/j.exer.2019.107720_bib6","doi-asserted-by":"crossref","first-page":"4379","DOI":"10.1167\/iovs.08-3320","article-title":"Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy","volume":"50","author":"Boonstra","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib7","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1001\/archopht.121.8.1200","article-title":"Congenital toxoplasmosis with unusual retinal findings","volume":"121","author":"Brady-McCreery","year":"2003","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib8","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1002\/jbm4.10020","article-title":"Primary osteoporosis in young adults: genetic basis and identification of novel variants in causal genes","volume":"2","author":"Collet","year":"2017","journal-title":"JBMR plus"},{"key":"10.1016\/j.exer.2019.107720_bib10","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/0002-9394(69)91237-9","article-title":"Familial exudative vitreoretinopathy","volume":"68","author":"Criswick","year":"1969","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib11","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1001\/archophthalmol.2009.322","article-title":"Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene","volume":"127","author":"Drenser","year":"2009","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib12","first-page":"395","article-title":"Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy","volume":"20","author":"Fei","year":"2014","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107720_bib13","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0002-9394(14)70899-2","article-title":"Persistent fetal vasculature (PFV): an integrated interpretation of signs and symptoms associated with persistent hyperplastic primary vitreous (PHPV). LIV Edward Jackson Memorial Lecture","volume":"124","author":"Goldberg","year":"1997","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib14","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.neulet.2013.02.013","article-title":"Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy","volume":"541","author":"Huang","year":"2013","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.exer.2019.107720_bib17","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1167\/iovs.11-8629","article-title":"Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)","volume":"53","author":"JA","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib18","first-page":"5368","volume":"vol. 59","author":"JK","year":"2018"},{"key":"10.1016\/j.exer.2019.107720_bib19","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.cell.2009.07.048","article-title":"TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4\/beta-catenin signaling","volume":"139","author":"Junge","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.exer.2019.107720_bib20","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ophtha.2013.08.010","article-title":"High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy","volume":"121","author":"Kashani","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2019.107720_bib22","doi-asserted-by":"crossref","first-page":"2445","DOI":"10.1159\/000495901","article-title":"A novel variant of the FZD4 gene in a Chinese family causes autosomal dominant familial exudative vitreoretinopathy","volume":"51","author":"L","year":"2018","journal-title":"Cell. Physiol. Biochem. : Int. J. Cell. Physiol. Biochem. Pharmacol."},{"key":"10.1016\/j.exer.2019.107720_bib23","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.bone.2005.01.014","article-title":"Genetic and environmental determinants of bone mineral density in Chinese women","volume":"36","author":"Lau","year":"2005","journal-title":"Bone"},{"key":"10.1016\/j.exer.2019.107720_bib24","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1007\/s00417-018-4076-8","article-title":"The characteristics of digenic familial exudative vitreoretinopathy","volume":"256","author":"Li","year":"2018","journal-title":"Graefe's Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib26","doi-asserted-by":"crossref","first-page":"184","DOI":"10.3109\/13816810.2013.811270","article-title":"Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant","volume":"35","author":"Marco","year":"2014","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"10.1016\/j.exer.2019.107720_bib28","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1055\/s-0038-1670684","article-title":"Diagnosis of atelosteogenesis type I suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism","volume":"40","author":"Meira","year":"2018","journal-title":"Rev. Bras. Ginecol. Obstet. : Rev. Federacao Bras. das Soc. Ginecol. Obstet."},{"key":"10.1016\/j.exer.2019.107720_bib29","first-page":"376","volume":"vol. 5","author":"Meitinger","year":"1993"},{"key":"10.1016\/j.exer.2019.107720_bib30","first-page":"491","article-title":"Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR","volume":"22","author":"Musada","year":"2016","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107720_bib32","first-page":"700","volume":"vol. 36","author":"MY","year":"2005"},{"key":"10.1016\/j.exer.2019.107720_bib33","first-page":"40","article-title":"Falciform retinal fold as sign of familial exudative vitreoretinopathy","volume":"27","author":"Nishimura","year":"1983","journal-title":"Jpn. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib34","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ajo.2011.06.002","article-title":"Clinical features of congenital retinal folds","volume":"153","author":"Nishina","year":"2012","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib35","doi-asserted-by":"crossref","first-page":"2803","DOI":"10.1242\/dev.01137","article-title":"The Wnt co-receptors Lrp5 and Lrp6 are essential for gastrulation in mice","volume":"131","author":"OG","year":"2004","journal-title":"Development (Camb.)"},{"key":"10.1016\/j.exer.2019.107720_bib37","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1080\/13816810490514270","article-title":"Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)","volume":"25","author":"Omoto","year":"2004","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"10.1016\/j.exer.2019.107720_bib38","first-page":"367","article-title":"Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy","volume":"38","author":"Pelcastre","year":"2010","journal-title":"Aust. N. Z. J. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib40","series-title":"Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)","author":"Poulter","year":"2012"},{"key":"10.1016\/j.exer.2019.107720_bib41","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1016\/j.ophtha.2011.06.020","article-title":"Clinical presentation of familial exudative vitreoretinopathy","volume":"118","author":"Ranchod","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2019.107720_bib43","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1167\/iovs.16-21324","article-title":"Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy","volume":"58","author":"Rao","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib44","first-page":"2438","volume":"vol. 18","author":"S","year":"2012"},{"key":"10.1016\/j.exer.2019.107720_bib45","first-page":"81","article-title":"Clinical features of congenital retinal folds","volume":"153","author":"S","year":"2012","journal-title":"Ophthalmology"},{"key":"10.1016\/j.exer.2019.107720_bib46","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s12862-019-1400-9","article-title":"Molecular Evolutionary and Structural Analysis of Familial Exudative Vitreoretinopathy Associated FZD4 Gene","volume":"19","author":"S","year":"2019","journal-title":"BMC Evolution. Biol."},{"key":"10.1016\/j.exer.2019.107720_bib47","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1167\/iovs.14-16065","article-title":"Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients","volume":"56","author":"Salvo","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib48","doi-asserted-by":"crossref","first-page":"5143","DOI":"10.1167\/iovs.14-15680","article-title":"Molecular characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy","volume":"56","author":"Seo","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib49","doi-asserted-by":"crossref","first-page":"6902","DOI":"10.1167\/iovs.16-20585","article-title":"Large deletions of TSPAN12 cause familial exudative vitreoretinopathy (FEVR)","volume":"57","author":"SH","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib50","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1586\/eop.12.40","article-title":"Genetics of familial exudative vitreoretinopathy and its implications for management","volume":"7","author":"Shastry","year":"2012","journal-title":"Expert Rev. Ophthalmol."},{"key":"10.1016\/j.exer.2019.107720_bib51","first-page":"164","article-title":"Familial exudative vitreoretinopathy","volume":"45","author":"Sizmaz","year":"2015","journal-title":"Turkish J. Orthod."},{"key":"10.1016\/j.exer.2019.107720_bib52","doi-asserted-by":"crossref","first-page":"5143","DOI":"10.1167\/iovs.14-15680","article-title":"Molecular characterization of FZD4, LRP5, and TSPAN12 in familial exudative vitreoretinopathy","volume":"56","author":"Soo Hyun","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib53","first-page":"60","article-title":"Variable reduction in Norrin signaling activity caused by novel mutations in identified in patients with familial exudative vitreoretinopathy","volume":"25","author":"T","year":"2019","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107720_bib54","first-page":"917","article-title":"Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy","volume":"22","author":"Tang","year":"2016","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2019.107720_bib55","doi-asserted-by":"crossref","first-page":"5949","DOI":"10.1167\/iovs.17-22577","article-title":"Mutation spectrum of the LRP5, NDP, and TSPAN12 genes in Chinese patients with familial exudative vitreoretinopathy","volume":"58","author":"Tang","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2019.107720_bib56","series-title":"Congenital Retinal Fold as a Sign of Dominant Exudative Vitreoretinopathy","first-page":"55","volume":"217","author":"van Nouhuys","year":"1981"},{"key":"10.1016\/j.exer.2019.107720_bib57","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1167\/tvst.8.2.21","article-title":"An ophthalmic targeted exome sequencing panel as a powerful tool to identify causative mutations in patients suspected of hereditary eye diseases","volume":"8","author":"Wang","year":"2019","journal-title":"Transl. Vis. Sci. Technol."},{"key":"10.1016\/j.exer.2019.107720_bib58","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.exer.2016.06.019","article-title":"Molecular genetics of Leber congenital amaurosis in Chinese: new data from 66 probands and mutation overview of 159 probands","volume":"149","author":"Xu","year":"2016","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2019.107720_bib60","first-page":"2438","article-title":"Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy","volume":"18","author":"Yang","year":"2012","journal-title":"Mol. Vis."}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S001448351930079X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S001448351930079X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T05:03:17Z","timestamp":1757998997000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S001448351930079X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":48,"alternative-id":["S001448351930079X"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2019.107720","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Symmetry of folds in FEVR: A genotype-phenotype correlation study","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2019.107720","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107720"}}