{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:59:06Z","timestamp":1791928746692,"version":"4.3.4"},"reference-count":42,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2021,3,1]]},"DOI":"10.1167\/iovs.62.3.1","type":"journal-article","created":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T11:31:30Z","timestamp":1614598290000},"page":"1","source":"Crossref","is-referenced-by-count":12,"title":["Nanophthalmos-Associated\n                    <i>MYRF<\/i>\n                    Gene Mutation Causes Ciliary Zonule Defects in Mice"],"prefix":"10.1167","volume":"62","author":[{"given":"Xiaowei","family":"Yu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nannan","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenni","family":"Zhao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoqian","family":"Su","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiamin","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"He","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixiu","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Ge","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhigang","family":"Fan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1016\/0002-9394(71)90971-8","article-title":"Nanophthalmos","volume":"71","author":"O'Grady","year":"1971","journal-title":"Am J Ophthalmol"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"2735465","DOI":"10.1155\/2018\/2735465","article-title":"Nanophthalmos: a review of the clinical spectrum and genetics","volume":"2018","author":"Carricondo","year":"2018","journal-title":"J Ophthalmol"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"2875","DOI":"10.1167\/iovs.18-25954","article-title":"Missense mutations in the human nanophthalmos gene TMEM98 cause retinal defects in the mouse","volume":"60","author":"Cross","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1038\/sj.eye.6702742","article-title":"Management of glaucoma in patients with nanophthalmos","volume":"22","author":"Yalvac","year":"2008","journal-title":"Eye (London, England)"},{"key":"bib5","first-page":"1017","article-title":"Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.","volume":"21","author":"Khorram","year":"2015","journal-title":"Mol Vis"},{"key":"bib6","first-page":"2447","article-title":"A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen","volume":"18","author":"Paun","year":"2012","journal-title":"Mol Vis"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1097\/IAE.0000000000000950","article-title":"Bestrophinopathy: a spectrum of ocular abnormalities caused by the c.614T&gt;C mutation in the BEST1 gene","volume":"36","author":"Toto","year":"2016","journal-title":"Retina (Philadelphia, Pa)"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"7256","DOI":"10.1167\/iovs.11-8112","article-title":"174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy","volume":"52","author":"Fogerty","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"e1007244","DOI":"10.1371\/journal.pgen.1007244","article-title":"Muller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error","volume":"14","author":"Paylakhi","year":"2018","journal-title":"PLoS Genet"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"2904","DOI":"10.1167\/iovs.18-26275","article-title":"Detection of clinically relevant genetic variants in chinese patients with nanophthalmos by trio-based whole-genome sequencing study","volume":"60","author":"Guo","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.cell.2009.04.031","article-title":"Myelin gene regulatory factor is a critical transcriptional regulator required for CNS myelination","volume":"138","author":"Emery","year":"2009","journal-title":"Cell"},{"key":"bib12","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1002\/ajmg.a.61182","article-title":"Review of the phenotypic spectrum associated with haploinsufficiency of MYRF","volume":"179","author":"Rossetti","year":"2019","journal-title":"Am J Med Genet A"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"e1008130","DOI":"10.1371\/journal.pgen.1008130","article-title":"Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice","volume":"15","author":"Garnai","year":"2019","journal-title":"PLoS Genet"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.1007\/s00439-019-02039-z","article-title":"Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3","volume":"138","author":"Xiao","year":"2019","journal-title":"Hum Genet"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"5835791","DOI":"10.1155\/2018\/5835791","article-title":"Ocular biometric characteristics of Chinese with history of acute angle closure","volume":"2018","author":"Niu","year":"2018","journal-title":"J Ophthalmol"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1097\/IJG.0b013e318241b85b","article-title":"Evaluation of secondary glaucoma associated with subluxated lens misdiagnosed as acute primary angle-closure glaucoma","volume":"22","author":"Luo","year":"2013","journal-title":"J Glaucoma"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/(ISSN)1615-9861","article-title":"Proteomic analysis of fibrillin-rich microfibrils","volume":"6","author":"Cain","year":"2006","journal-title":"Proteomics"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"573","DOI":"10.1167\/iovs.16-20866","article-title":"Proteomic analysis of the bovine and human ciliary zonule","volume":"58","author":"De Maria","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1111\/iep.2017.98.issue-4","article-title":"Fell-Muir lecture: fibrillin microfibrils: structural tensometers of elastic tissues?","volume":"98","author":"Kielty","year":"2017","journal-title":"Int J Exp Pathol"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"16151","DOI":"10.1038\/s41598-017-16275-8","article-title":"Gene therapy restores Mfrp and corrects axial eye length","volume":"7","author":"Velez","year":"2017","journal-title":"Sci Rep"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/j.exer.2012.12.014","article-title":"Investigating mechanisms of myopia in mice","volume":"114","author":"Pardue","year":"2013","journal-title":"Exp Eye Res"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1111\/j.1600-0420.1997.tb00788.x","article-title":"Autosomal recessive nanophthalmos","volume":"75","author":"Altintas","year":"1997","journal-title":"Acta Ophthalmol Scand"},{"key":"bib23","first-page":"527","article-title":"Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF","volume":"25","author":"Siggs","year":"2019","journal-title":"Mol Vis"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"2248","DOI":"10.1167\/iovs.19-26867","article-title":"Anterior segment features in nanophthalmos with secondary chronic angle closure glaucoma: an ultrasound biomicroscopy study","volume":"60","author":"Guo","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1016\/j.jcrs.2003.07.009","article-title":"Cataract surgery in patients with nanophthalmos: results and complications","volume":"30","author":"Wu","year":"2004","journal-title":"J Cataract Refract Surg"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1267\/ahc.13038","article-title":"Microfibril-associated glycoprotein-1 controls human ciliary zonule development in vitro","volume":"47","author":"Fujita","year":"2014","journal-title":"Acta Histochem Cytochem"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"4416","DOI":"10.1167\/iovs.19-27794","article-title":"The ciliary muscle and zonules of Zinn modulate lens intracellular hydrostatic pressure through transient receptor potential vanilloid channels","volume":"60","author":"Chen","year":"2019","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"4017","DOI":"10.1167\/iovs.08-2638","article-title":"Effect of anterior zonule transection on the change in lens diameter and power in cynomolgus monkeys during simulated accommodation","volume":"50","author":"Nankivil","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"bib29","doi-asserted-by":"publisher","first-page":"dmm037283","DOI":"10.1242\/dmm.037283","article-title":"Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome","volume":"12","author":"Jones","year":"2019","journal-title":"Dis Model Mech"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"2504","DOI":"10.1167\/iovs.13-11619","article-title":"Development, composition, and structural arrangements of the ciliary zonule of the mouse","volume":"54","author":"Shi","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib31","first-page":"363","article-title":"Oxytalan fibres in the rat pineal gland","volume":"136","author":"Calvo","year":"1983","journal-title":"J Anat"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"5117","DOI":"10.1074\/jbc.RA117.001483","article-title":"Structural and compositional diversity of fibrillin microfibrils in human tissues","volume":"293","author":"Eckersley","year":"2018","journal-title":"J Biol Chem"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.matbio.2015.05.004","article-title":"ADAMTS proteins as modulators of microfibril formation and function","volume":"47","author":"Hubmacher","year":"2015","journal-title":"Matrix Biol"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"5672","DOI":"10.1093\/hmg\/ddu283","article-title":"Latent TGF-\u00df binding protein-2 is essential for the development of ciliary zonule microfibrils","volume":"23","author":"Inoue","year":"2014","journal-title":"Hum Mol Genet"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/S0945-053X(01)00122-6","article-title":"Synthesis and structural organization of zonular fibers during development and aging","volume":"20","author":"Hanssen","year":"2001","journal-title":"Matrix Biol"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1172\/JCI200420641","article-title":"Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome","volume":"114","author":"Judge","year":"2004","journal-title":"J Clin Invest"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"8337","DOI":"10.1167\/iovs.13-13121","article-title":"Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome","volume":"54","author":"Beene","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"7163","DOI":"10.1167\/iovs.13-12687","article-title":"Ocular phenotype of FBN2-null mice","volume":"54","author":"Shi","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"5672","DOI":"10.1093\/hmg\/ddu283","article-title":"Latent TGF-beta binding protein-2 is essential for the development of ciliary zonule microfibrils","volume":"23","author":"Inoue","year":"2014","journal-title":"Hum Mol Genet"},{"key":"bib40","first-page":"6958","article-title":"Disruption of murine ADAMTSL4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation","volume":"24","author":"Collin","year":"2015","journal-title":"Hum Mol Genet"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"5505","DOI":"10.1167\/iovs.06-0312","article-title":"CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion","volume":"47","author":"Mandal","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"1242","DOI":"10.1136\/bjo.2004.046003","article-title":"A system for preoperative stratification of cataract patients according to risk of intraoperative complications: a prospective analysis of 1441 cases","volume":"88","author":"Muhtaseb","year":"2004","journal-title":"Br J Ophthalmol"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2772337","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:22Z","timestamp":1791927082000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2772337"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,1]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.62.3.1","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3,1]]}}}