{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:48:29Z","timestamp":1792100909729,"version":"4.4.0"},"reference-count":138,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["EY09052"],"award-info":[{"award-number":["EY09052"]}],"id":[{"id":"10.13039\/100000053","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":[[2021,1]]},"DOI":"10.1016\/j.exer.2020.108398","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T01:39:06Z","timestamp":1607823546000},"page":"108398","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":90,"special_numbering":"C","title":["Update on the genetics of keratoconus"],"prefix":"10.1016","volume":"202","author":[{"given":"Yelena","family":"Bykhovskaya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaron S.","family":"Rabinowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2020.108398_bib1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/s12952-015-0029-5","article-title":"Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population","volume":"14","author":"Abu-Amero","year":"2015","journal-title":"J. Negat. Results Biomed."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s10038-020-00842-5","article-title":"Multi-omics study for interpretation of genome-wide association study","volume":"66","author":"Akiyama","year":"2021","journal-title":"J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib3","doi-asserted-by":"crossref","first-page":"5132","DOI":"10.1167\/iovs.13-12377","article-title":"Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus","volume":"54","author":"Bae","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib4","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/aos.13961","article-title":"A nationwide population-based study of social demographic factors, associated diseases and mortality of keratoconus patients in Denmark from 1977 to 2015","volume":"97","author":"Bak-Nielsen","year":"2019","journal-title":"Acta Ophthalmol."},{"issue":"12","key":"10.1016\/j.exer.2020.108398_bib5","doi-asserted-by":"crossref","first-page":"5243","DOI":"10.1167\/iovs.06-0185","article-title":"Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing","volume":"47","author":"Barbaro","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib6","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1152\/physrev.00041.2015","article-title":"Non-coding RNAs in development and disease: background, mechanisms, and therapeutic approaches","volume":"96","author":"Beermann","year":"2016","journal-title":"Physiol. Rev."},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib7","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1016\/j.jcrs.2005.12.002","article-title":"Keratoconus and corneal ectasia after LASIK","volume":"31","author":"Binder","year":"2005","journal-title":"J. Cataract Refract. Surg."},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib8","doi-asserted-by":"crossref","first-page":"8514","DOI":"10.1167\/iovs.11-8261","article-title":"Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus","volume":"52","author":"Burdon","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib9","doi-asserted-by":"crossref","first-page":"244","DOI":"10.3109\/13816810.2013.848908","article-title":"C.57 C > T mutation in MIR 184 is responsible for congenital cataracts and corneal abnormalities in a five-generation family from galicia, Spain","volume":"36","author":"Bykhovskaya","year":"2015","journal-title":"Ophthalmic Genet."},{"issue":"14","key":"10.1016\/j.exer.2020.108398_bib10","doi-asserted-by":"crossref","first-page":"6462","DOI":"10.1167\/iovs.17-22819","article-title":"TSC1 mutations in keratoconus patients with or without tuberous sclerosis","volume":"58","author":"Bykhovskaya","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib11","doi-asserted-by":"crossref","first-page":"63","DOI":"10.5005\/jp-journals-10025-1123","article-title":"Abnormal regulation of extracellular matrix and adhesion molecules in corneas of patients with keratoconus","volume":"5","author":"Bykhovskaya","year":"2016","journal-title":"Int. J. Keratoconus Ectatic Corneal Dis."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib12","doi-asserted-by":"crossref","first-page":"4152","DOI":"10.1167\/iovs.11-9268","article-title":"Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies","volume":"53","author":"Bykhovskaya","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib13","first-page":"109","article-title":"Linkage analysis of high-density SNPs confirms keratoconus locus at 5q chromosomal region","volume":"37","author":"Bykhovskaya","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.exer.2020.108398_bib14","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s40662-016-0047-5","article-title":"Genetics in Keratoconus: where are we?","volume":"3","author":"Bykhovskaya","year":"2016","journal-title":"Eye Vis (Lond)"},{"key":"10.1016\/j.exer.2020.108398_bib15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2147\/TACG.S90262","article-title":"Genetics of tuberous sclerosis complex: implications for clinical practice","volume":"10","author":"Caban","year":"2017","journal-title":"Appl. Clin. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib16","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/s42003-020-1037-7","article-title":"A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness","volume":"3","author":"Choquet","year":"2020","journal-title":"Commun Biol"},{"issue":"7414","key":"10.1016\/j.exer.2020.108398_bib17","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Consortium","year":"2012","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib18","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3390\/jcm5030031","article-title":"The application of genetic risk scores in age-related macular degeneration: a review","volume":"5","author":"Cooke Bailey","year":"2016","journal-title":"J. Clin. Med."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib19","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/s41588-019-0556-y","article-title":"Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression","volume":"52","author":"Craig","year":"2020","journal-title":"Nat. Genet."},{"issue":"17","key":"10.1016\/j.exer.2020.108398_bib20","doi-asserted-by":"crossref","first-page":"5060","DOI":"10.1093\/hmg\/ddv211","article-title":"WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness","volume":"24","author":"Cuellar-Partida","year":"2015","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib21","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/ejhg.2011.203","article-title":"Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus","volume":"20","author":"Czugala","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib22","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1167\/iovs.14-15792","article-title":"Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus","volume":"56","author":"Davidson","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib23","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1136\/bjo.2009.162735","article-title":"The genetics of central corneal thickness","volume":"94","author":"Dimasi","year":"2010","journal-title":"Br. J. Ophthalmol."},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib24","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1038\/ejhg.2015.28","article-title":"Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent","volume":"23","author":"Dudakova","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.exer.2020.108398_bib25","article-title":"Ten years experience of corneal collagen cross-linking: an observational study of 6120 cases","author":"Elmassry","year":"2020","journal-title":"Eur. J. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib26","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3928\/1081597X-20100415-02","article-title":"Ocular response analyzer measurements in keratoconus with normal central corneal thickness compared with matched normal control eyes","volume":"27","author":"Fontes","year":"2011","journal-title":"J. Refract. Surg."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib27","doi-asserted-by":"crossref","first-page":"138","DOI":"10.18502\/jovr.v15i2.6730","article-title":"Screening for novel LOX and SOD1 variants in keratoconus patients from Brazil","volume":"15","author":"Gadelha","year":"2020","journal-title":"J. Ophthalmic Vis. Res."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib28","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.1167\/iovs.13-11692","article-title":"A genome-wide association study of central corneal thickness in Latinos","volume":"54","author":"Gao","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"22","key":"10.1016\/j.exer.2020.108398_bib29","first-page":"5035","article-title":"Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos","volume":"25","author":"Gao","year":"2016","journal-title":"Hum. Mol. Genet."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib30","doi-asserted-by":"crossref","DOI":"10.1167\/tvst.8.2.10","article-title":"Polygenic risk score is associated with intraocular pressure and improves glaucoma prediction in the UK biobank cohort","volume":"8","author":"Gao","year":"2019","journal-title":"Translational vision science & technology"},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib31","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1001\/jamaophthalmol.2019.4421","article-title":"Association between polygenic risk score and risk of myopia","volume":"138","author":"Ghorbani Mojarrad","year":"2019","journal-title":"JAMA ophthalmology"},{"key":"10.1016\/j.exer.2020.108398_bib32","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.ajo.2016.12.015","article-title":"Age-specific incidence and prevalence of keratoconus: a nationwide registration study","volume":"175","author":"Godefrooij","year":"2017","journal-title":"Am. J. Ophthalmol."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib33","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/ICO.0000000000000408","article-title":"Global consensus on keratoconus and ectatic diseases","volume":"34","author":"Gomes","year":"2015","journal-title":"Cornea"},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib34","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1210\/clinem\/dgz198","article-title":"Classification of type 2 diabetes genetic variants and a novel genetic risk score association with insulin clearance","volume":"105","author":"Goodarzi","year":"2019","journal-title":"J. Clin. Endocrinol. Metabol."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib35","doi-asserted-by":"crossref","first-page":"18","DOI":"10.5455\/aim.2020.28.18-23","article-title":"Keratoconus progression classification one year after performed crosslinking method based on ABCD keratoconus grading system","volume":"28","author":"Grisevic","year":"2020","journal-title":"Acta Inf. Med."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib36","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.gene.2012.04.061","article-title":"The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population","volume":"503","author":"Guan","year":"2012","journal-title":"Gene"},{"issue":"10","key":"10.1016\/j.exer.2020.108398_bib37","article-title":"Coronary heart disease genetic risk score predicts cardiovascular disease risk in men, not women.\" circulation","volume":"11","author":"Hajek","year":"2018","journal-title":"Genomic and precision medicine"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib38","doi-asserted-by":"crossref","first-page":"132","DOI":"10.3109\/13816810.2015.1005317","article-title":"Evaluating the association between keratoconus and reported genetic loci in a han Chinese population","volume":"36","author":"Hao","year":"2015","journal-title":"Ophthalmic Genet."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib39","doi-asserted-by":"crossref","first-page":"309","DOI":"10.3109\/13816810.2014.881507","article-title":"Association of Lysyl oxidase (LOX) polymorphisms with the risk of Keratoconus in an Iranian population","volume":"36","author":"Hasanian-Langroudi","year":"2015","journal-title":"Ophthalmic Genet."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib40","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1097\/ICO.0000000000002150","article-title":"The prevalence and risk factors for keratoconus: a systematic review and meta-analysis","volume":"39","author":"Hashemi","year":"2020","journal-title":"Cornea"},{"issue":"9","key":"10.1016\/j.exer.2020.108398_bib41","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/hmg\/11.9.1029","article-title":"VSX1: a gene for posterior polymorphous dystrophy and keratoconus","volume":"11","author":"Heon","year":"2002","journal-title":"Hum. Mol. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib42","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/s42003-020-01137-3","article-title":"Keratoconus-susceptibility gene identification by corneal thickness genome-wide association study and artificial intelligence IBM Watson","volume":"3","author":"Hosoda","year":"2020","journal-title":"Commun Biol"},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib43","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.ajhg.2011.09.014","article-title":"Mutation altering the miR-184 seed region causes familial keratoconus with cataract","volume":"89","author":"Hughes","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib44","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1038\/s41467-018-03646-6","article-title":"Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases","volume":"9","author":"Iglesias","year":"2018","journal-title":"Nat. Commun."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib45","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1167\/iovs.11-8783","article-title":"A single-base substitution in the seed region of miR-184 causes EDICT syndrome","volume":"53","author":"Iliff","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"7367","key":"10.1016\/j.exer.2020.108398_bib46","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/nature10405","article-title":"Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk","volume":"478","author":"Ehret","year":"2011","journal-title":"Nature"},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib47","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1097\/ICO.0b013e3181e16dd0","article-title":"VSX1 gene and keratoconus: genetic analysis in Korean patients","volume":"31","author":"Jeoung","year":"2012","journal-title":"Cornea"},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib48","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajo.2009.06.024","article-title":"Prevalence and associations of keratoconus in rural Maharashtra in central India: the central India eye and medical study","volume":"148","author":"Jonas","year":"2009","journal-title":"Am. J. Ophthalmol."},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib49","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/ejhg.2017.4","article-title":"Collagen synthesis disruption and downregulation of core elements of TGF-beta, Hippo, and Wnt pathways in keratoconus corneas","volume":"25","author":"Kabza","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib50","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1097\/01.ico.0000167883.63266.60","article-title":"Modified intracorneal ring segment implantations (INTACS) for the management of moderate to advanced keratoconus: efficacy and complications","volume":"25","author":"Kanellopoulos","year":"2006","journal-title":"Cornea"},{"key":"10.1016\/j.exer.2020.108398_bib51","doi-asserted-by":"crossref","DOI":"10.7717\/peerj.9793","article-title":"Further evaluation of differential expression of keratoconus candidate genes in human corneas","volume":"8","author":"Karolak","year":"2020","journal-title":"PeerJ"},{"issue":"13","key":"10.1016\/j.exer.2020.108398_bib52","doi-asserted-by":"crossref","first-page":"7687","DOI":"10.1167\/iovs.15-17538","article-title":"Variant c.2262A>C in DOCK9 leads to exon skipping in keratoconus family","volume":"56","author":"Karolak","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib53","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/0002-9394(86)90817-2","article-title":"A 48-year clinical and epidemiologic study of keratoconus","volume":"101","author":"Kennedy","year":"1986","journal-title":"Am. J. Ophthalmol."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib54","doi-asserted-by":"crossref","first-page":"19406","DOI":"10.1038\/s41598-019-55866-5","article-title":"PPIP5K2 and PCSK1 are candidate genetic contributors to familial keratoconus","volume":"9","author":"Khaled","year":"2019","journal-title":"Sci. Rep."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib55","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1167\/iovs.18-24267","article-title":"Differential expression of coding and long noncoding RNAs in keratoconus-affected corneas","volume":"59","author":"Khaled","year":"2018","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"9","key":"10.1016\/j.exer.2020.108398_bib56","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1001\/jamaophthalmol.2019.2058","article-title":"Genetic variants associated with corneal biomechanical properties and potentially conferring susceptibility to keratoconus in a genome-wide association study","volume":"137","author":"Khawaja","year":"2019","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.exer.2020.108398_bib57","first-page":"2109","article-title":"Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients","volume":"14","author":"Kim","year":"2008","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2020.108398_bib58","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/1752-1947-5-152","article-title":"Corneal melting after collagen cross-linking for keratoconus: a case report","volume":"5","author":"Labiris","year":"2011","journal-title":"J. Med. Case Rep."},{"issue":"12","key":"10.1016\/j.exer.2020.108398_bib59","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1097\/ICO.0000000000002546","article-title":"Keratoconus prevalence in families: a French study","volume":"39","author":"Lapeyre","year":"2020","journal-title":"Cornea"},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib60","doi-asserted-by":"crossref","first-page":"3215","DOI":"10.1167\/iovs.13-11781","article-title":"Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype\u2013phenotype correlation","volume":"54","author":"Lechner","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib61","doi-asserted-by":"crossref","first-page":"2696","DOI":"10.1167\/iovs.13-11601","article-title":"Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus","volume":"54","author":"Li","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib62","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/hmg\/ddr460","article-title":"A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries","volume":"21","author":"Li","year":"2012","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib63","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1097\/ICO.0b013e3182821c1c","article-title":"An association between the calpastatin (CAST) gene and keratoconus","volume":"32","author":"Li","year":"2013","journal-title":"Cornea"},{"issue":"9","key":"10.1016\/j.exer.2020.108398_bib64","doi-asserted-by":"crossref","first-page":"3791","DOI":"10.1167\/iovs.06-0214","article-title":"Two-stage genome-wide linkage scan in keratoconus sib pair families","volume":"47","author":"Li","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib65","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.exer.2007.06.016","article-title":"Longitudinal study of keratoconus progression","volume":"85","author":"Li","year":"2007","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2020.108398_bib66","doi-asserted-by":"crossref","first-page":"181","DOI":"10.2174\/1874364101812010181","article-title":"A review of corneal collagen cross-linking - current trends in practice applications","volume":"12","author":"Lim","year":"2018","journal-title":"Open Ophthalmol. J."},{"key":"10.1016\/j.exer.2020.108398_bib67","doi-asserted-by":"crossref","DOI":"10.1155\/2019\/2851380","article-title":"A novel splice-site variation in COL5A1 causes keratoconus in an Indian family","author":"Lin","year":"2019","journal-title":"J Ophthalmol"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib68","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172365","article-title":"Replication of SNP associations with keratoconus in a Czech cohort","volume":"12","author":"Liskova","year":"2017","journal-title":"PloS One"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib69","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng.2506","article-title":"\"Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.\"","volume":"45","author":"Lu","year":"2013","journal-title":"Nat. Genet."},{"issue":"6","key":"10.1016\/j.exer.2020.108398_bib70","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0199178","article-title":"Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent","volume":"13","author":"Lucas","year":"2018","journal-title":"PloS One"},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib71","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.jcrs.2004.10.044","article-title":"Determining in vivo biomechanical properties of the cornea with an ocular response analyzer","volume":"31","author":"Luce","year":"2005","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.exer.2020.108398_bib72","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.omtn.2017.02.008","article-title":"Transcriptome-wide investigation of mRNA\/circRNA in miR-184 and its r.57c > u mutant type treatment of human lens epithelial cells","volume":"7","author":"Luo","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"issue":"6","key":"10.1016\/j.exer.2020.108398_bib73","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1016\/j.jcjo.2012.03.018","article-title":"Bilateral keratoconus in tuberous sclerosis: is there a molecular link?","volume":"47","author":"Lyall","year":"2012","journal-title":"Can. J. Ophthalmol."},{"issue":"6","key":"10.1016\/j.exer.2020.108398_bib74","doi-asserted-by":"crossref","first-page":"453","DOI":"10.5935\/0004-2749.20190087","article-title":"Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder","volume":"82","author":"Magalhaes","year":"2019","journal-title":"Arq. Bras. Oftalmol."},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib75","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/ICO.0b013e318165b1cd","article-title":"Alterations of extracellular matrix components and proteinases in human corneal buttons with INTACS for post-laser in situ keratomileusis keratectasia and keratoconus","volume":"27","author":"Maguen","year":"2008","journal-title":"Cornea"},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib76","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1038\/s41588-018-0241-6","article-title":"Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps","volume":"50","author":"Mahajan","year":"2018","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib77","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/ajmg.c.30070","article-title":"Molecular genetics in classic Ehlers-Danlos syndrome","volume":"139C","author":"Malfait","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"10.1016\/j.exer.2020.108398_bib78","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.survophthal.2017.06.009","article-title":"A review of keratoconus: diagnosis, pathophysiology, and genetics","volume":"62","author":"Mas Tur","year":"2017","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.exer.2020.108398_bib79","doi-asserted-by":"crossref","DOI":"10.1111\/ceo.13852","article-title":"Topographic screening reveals keratoconus to be extremely common in Down syndrome","author":"Mathan","year":"2020","journal-title":"Clin. Exp. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib80","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000367937","article-title":"First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy","volume":"5","author":"Mazzotta","year":"2014","journal-title":"Case reports in ophthalmology"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib81","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1001\/jamaophthalmol.2019.5293","article-title":"Association of genetic variation with keratoconus","volume":"138","author":"McComish","year":"2020","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.exer.2020.108398_bib82","first-page":"845","article-title":"Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population","volume":"19","author":"Mikami","year":"2013","journal-title":"Mol. Vis."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib83","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.joco.2017.11.002","article-title":"Updates on managements for keratoconus","volume":"30","author":"Mohammadpour","year":"2018","journal-title":"J Curr Ophthalmol"},{"key":"10.1016\/j.exer.2020.108398_bib84","doi-asserted-by":"crossref","first-page":"241","DOI":"10.2174\/1874364101711010241","article-title":"Contact lenses for keratoconus- current practice","volume":"11","author":"Moschos","year":"2017","journal-title":"Open Ophthalmol. J."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib85","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1001\/jama.2019.21782","article-title":"Predictive accuracy of a polygenic risk score compared with a clinical risk score for incident coronary heart disease","volume":"323","author":"Mosley","year":"2020","journal-title":"J. Am. Med. Assoc."},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib86","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.18240\/ijo.2019.11.17","article-title":"The correlation between keratoconus and eye rubbing: a review","volume":"12","author":"Najmi","year":"2019","journal-title":"Int. J. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib87","first-page":"194","article-title":"Keratoconus detected by videokeratography in candidates for photorefractive keratectomy","volume":"11","author":"Nesburn","year":"1995","journal-title":"J. Refract. Surg."},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib88","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1111\/j.1600-0420.2007.00981.x","article-title":"Incidence and prevalence of keratoconus in Denmark","volume":"85","author":"Nielsen","year":"2007","journal-title":"Acta Ophthalmol. Scand."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib89","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0132143","article-title":"Nonrandom distribution of miRNAs genes and single nucleotide variants in keratoconus loci","volume":"10","author":"Nowak","year":"2015","journal-title":"PloS One"},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib90","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1167\/iovs.13-11592","article-title":"Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus","volume":"54","author":"Nowak","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib91","doi-asserted-by":"crossref","first-page":"253","DOI":"10.5301\/ejo.5000916","article-title":"Corneal collagen crosslinking for corneal ectasias: a review","volume":"27","author":"O'Brart","year":"2017","journal-title":"Eur. J. Ophthalmol."},{"issue":"11","key":"10.1016\/j.exer.2020.108398_bib92","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.3109\/02713683.2015.1133831","article-title":"Correlation of clinical and biomechanical outcomes of accelerated crosslinking (9 mW\/cm(2) in 10 minutes) in keratoconus with molecular expression of ectasia-related genes","volume":"41","author":"Pahuja","year":"2016","journal-title":"Curr. Eye Res."},{"issue":"6","key":"10.1016\/j.exer.2020.108398_bib93","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1097\/ICO.0000000000001579","article-title":"Corneal cross-linking for pediatric keratcoconus review","volume":"37","author":"Perez-Straziota","year":"2018","journal-title":"Cornea"},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib94","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/j.ophtha.2019.12.025","article-title":"An intraocular pressure polygenic risk score stratifies multiple primary open-angle glaucoma parameters including treatment intensity","volume":"127","author":"Qassim","year":"2020","journal-title":"Ophthalmology"},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib95","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/S0039-6257(97)00119-7","article-title":"Keratoconus","volume":"42","author":"Rabinowitz","year":"1998","journal-title":"Surv. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib96","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1001\/archopht.1990.01070050063032","article-title":"Computer-assisted corneal topography in family members of patients with keratoconus","volume":"108","author":"Rabinowitz","year":"1990","journal-title":"Arch. Ophthalmol."},{"issue":"9","key":"10.1016\/j.exer.2020.108398_bib97","first-page":"S824","article-title":"Permanent corneal haze after riboflavin-UVA-induced cross-linking in keratoconus","volume":"25","author":"Raiskup","year":"2009","journal-title":"J. Refract. Surg."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib98","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0161-6420(02)01727-X","article-title":"Risk factors and prognosis for corneal ectasia after LASIK","volume":"110","author":"Randleman","year":"2003","journal-title":"Ophthalmology"},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib99","doi-asserted-by":"crossref","first-page":"410","DOI":"10.4103\/0301-4738.116066","article-title":"Contact lens in keratoconus","volume":"61","author":"Rathi","year":"2013","journal-title":"Indian J. Ophthalmol."},{"key":"10.1016\/j.exer.2020.108398_bib100","doi-asserted-by":"crossref","DOI":"10.1155\/2017\/9707650","article-title":"Nonsurgical procedures for keratoconus management","author":"Rico-Del-Viejo","year":"2017","journal-title":"J Ophthalmol"},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib101","doi-asserted-by":"crossref","first-page":"4620","DOI":"10.1038\/s41598-017-04393-2","article-title":"Genetic associations for keratoconus: a systematic review and meta-analysis","volume":"7","author":"Rong","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2020.108398_bib102","first-page":"3128","article-title":"Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus","volume":"17","author":"Saee-Rad","year":"2011","journal-title":"Mol. Vis."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib103","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0084067","article-title":"Association of the hepatocyte growth factor gene with keratoconus in an Australian population","volume":"9","author":"Sahebjada","year":"2014","journal-title":"PloS One"},{"issue":"13","key":"10.1016\/j.exer.2020.108398_bib104","doi-asserted-by":"crossref","first-page":"8224","DOI":"10.1167\/iovs.13-12982","article-title":"Evaluating the association between keratoconus and the corneal thickness genes in an independent Australian population","volume":"54","author":"Sahebjada","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2020.108398_bib105","doi-asserted-by":"crossref","first-page":"713","DOI":"10.2147\/OPTH.S51313","article-title":"Ectasia risk factors in refractive surgery","volume":"10","author":"Santhiago","year":"2016","journal-title":"Clin. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib106","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1097\/ICO.0000000000000356","article-title":"Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus","volume":"34","author":"Saravani","year":"2015","journal-title":"Cornea"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib107","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/ICO.0000000000001083","article-title":"Trends in corneal transplantation in keratoconus","volume":"36","author":"Sarezky","year":"2017","journal-title":"Cornea"},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib108","doi-asserted-by":"crossref","first-page":"381","DOI":"10.4103\/0301-4738.116050","article-title":"The paradigm change in keratoconus therapy","volume":"61","author":"Seiler","year":"2013","journal-title":"Indian J. Ophthalmol."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib109","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1016\/S0886-3350(98)80057-6","article-title":"Iatrogenic keratectasia after LASIK in a case of forme fruste keratoconus","volume":"24","author":"Seiler","year":"1998","journal-title":"J. Cataract Refract. Surg."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib110","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0200704","article-title":"Collagen cross-linking impact on keratoconus extracellular matrix","volume":"13","author":"Sharif","year":"2018","journal-title":"PloS One"},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib111","doi-asserted-by":"crossref","first-page":"12567","DOI":"10.1038\/s41598-019-48983-8","article-title":"Transcriptional profiling of corneal stromal cells derived from patients with keratoconus","volume":"9","author":"Sharif","year":"2019","journal-title":"Sci. Rep."},{"issue":"7","key":"10.1016\/j.exer.2020.108398_bib112","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1038\/s41433-018-0075-6","article-title":"Effects of collagen cross-linking on the keratoconus metabolic network","volume":"32","author":"Sharif","year":"2018","journal-title":"Eye"},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib113","doi-asserted-by":"crossref","first-page":"380","DOI":"10.4103\/0301-4738.116049","article-title":"Keratoconus and corneal collagen cross-linking","volume":"61","author":"Shetty","year":"2013","journal-title":"Indian J. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib114","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1097\/ICO.0000000000001478","article-title":"Outcomes of corneal cross-linking correlate with cone-specific lysyl oxidase expression in patients with keratoconus","volume":"37","author":"Shetty","year":"2018","journal-title":"Cornea"},{"issue":"9","key":"10.1016\/j.exer.2020.108398_bib115","doi-asserted-by":"crossref","DOI":"10.3390\/ph13090257","article-title":"Association between polygenic risk score and one-year outcomes following as-needed aflibercept therapy for exudative age-related macular degeneration","volume":"13","author":"Shijo","year":"2020","journal-title":"Pharmaceuticals"},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib116","doi-asserted-by":"crossref","first-page":"9907","DOI":"10.1038\/s41598-020-66735-x","article-title":"RNA sequencing of corneas from two keratoconus patient groups identifies potential biomarkers and decreased NRF2-antioxidant responses","volume":"10","author":"Shinde","year":"2020","journal-title":"Sci. Rep."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib117","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1111\/opo.12706","article-title":"The prevalence of corneal abnormalities in first-degree relatives of patients with keratoconus: a prospective case-control study","volume":"40","author":"Shneor","year":"2020","journal-title":"Ophthalmic Physiol. Optic."},{"issue":"18","key":"10.1016\/j.exer.2020.108398_bib118","doi-asserted-by":"crossref","first-page":"3154","DOI":"10.1093\/hmg\/ddaa155","article-title":"Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases","volume":"29","author":"Simcoe","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2020.108398_bib119","first-page":"2848","article-title":"Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus","volume":"15","author":"Stabuc-Silih","year":"2009","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2020.108398_bib120","series-title":"\"KTCNlncDB-a First Platform to Investigate lncRNAs Expressed in Human Keratoconus and Non-keratoconus corneas.\" Database (Oxford)","author":"Szczesniak","year":"2017"},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib121","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0150353","article-title":"lncRNA-RNA interactions across the human transcriptome","volume":"11","author":"Szczesniak","year":"2016","journal-title":"PloS One"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib122","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/ICO.0b013e31815a50e7","article-title":"Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus","volume":"27","author":"Tang","year":"2008","journal-title":"Cornea"},{"key":"10.1016\/j.exer.2020.108398_bib123","first-page":"2395","article-title":"VSX1 gene analysis in keratoconus","volume":"16","author":"Tanwar","year":"2010","journal-title":"Mol. Vis."},{"issue":"10","key":"10.1016\/j.exer.2020.108398_bib124","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1136\/bjophthalmol-2017-311391","article-title":"Prevalence of keratoconus in paediatric patients in Riyadh, Saudi Arabia","volume":"102","author":"Torres Netto","year":"2018","journal-title":"Br. J. Ophthalmol."},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib125","doi-asserted-by":"crossref","first-page":"3345","DOI":"10.1167\/iovs.05-1500","article-title":"SOD1: a candidate gene for keratoconus","volume":"47","author":"Udar","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"issue":"21","key":"10.1016\/j.exer.2020.108398_bib126","doi-asserted-by":"crossref","first-page":"4304","DOI":"10.1093\/hmg\/ddq349","article-title":"New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8","volume":"19","author":"Vitart","year":"2010","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.exer.2020.108398_bib127","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1093\/hmg\/ddq511","article-title":"Collagen-related genes influence the glaucoma risk factor, central corneal thickness","volume":"20","author":"Vithana","year":"2011","journal-title":"Hum. Mol. Genet."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib128","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3109\/13816810.2012.743569","article-title":"Common single nucleotide polymorphisms and keratoconus in the han Chinese population","volume":"34","author":"Wang","year":"2013","journal-title":"Ophthalmic Genet."},{"issue":"5","key":"10.1016\/j.exer.2020.108398_bib129","first-page":"630","article-title":"Association of interleukin-1 gene single nucleotide polymorphisms with keratoconus in Chinese han population","volume":"41","author":"Wang","year":"2016","journal-title":"Curr. Eye Res."},{"issue":"12","key":"10.1016\/j.exer.2020.108398_bib130","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1136\/bjophthalmol-2018-312218","article-title":"Analysis of multiple genetic loci reveals MPDZ-NF1B rs1324183 as a putative genetic marker for keratoconus","volume":"102","author":"Wang","year":"2018","journal-title":"Br. J. Ophthalmol."},{"issue":"3","key":"10.1016\/j.exer.2020.108398_bib131","doi-asserted-by":"crossref","first-page":"201","DOI":"10.3928\/1081597X-20171215-02","article-title":"Histological and microRNA signatures of corneal epithelium in keratoconus","volume":"34","author":"Wang","year":"2018","journal-title":"J. Refract. Surg."},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib132","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/sj.eye.6702536","article-title":"Keratoconus in tuberous sclerosis","volume":"21","author":"Wong","year":"2007","journal-title":"Eye"},{"issue":"2","key":"10.1016\/j.exer.2020.108398_bib133","first-page":"236","article-title":"A comprehensive overview of lncRNA annotation resources","volume":"18","author":"Xu","year":"2017","journal-title":"Briefings Bioinf."},{"issue":"1","key":"10.1016\/j.exer.2020.108398_bib134","doi-asserted-by":"crossref","first-page":"5844","DOI":"10.1038\/s41598-020-62572-0","article-title":"Three novel variants identified within ECM-related genes in Chinese Han keratoconus patients","volume":"10","author":"Xu","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.exer.2020.108398_bib135","first-page":"296","article-title":"Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population","volume":"23","author":"Yu","year":"2017","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2020.108398_bib136","doi-asserted-by":"crossref","first-page":"827","DOI":"10.3389\/fgene.2020.00827","article-title":"Replication of the association between keratoconus and polymorphisms in PNPLA2 and MAML2 in a han Chinese population","volume":"11","author":"Zhang","year":"2020","journal-title":"Front. Genet."},{"issue":"12","key":"10.1016\/j.exer.2020.108398_bib137","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0145815","article-title":"Association of common variants in LOX with keratoconus: a meta-analysis","volume":"10","author":"Zhang","year":"2015","journal-title":"PloS One"},{"issue":"8","key":"10.1016\/j.exer.2020.108398_bib138","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1097\/ICO.0000000000002002","article-title":"Corneal perforation after corneal cross-linking in keratoconus associated with potentially pathogenic ZNF469 mutations","volume":"38","author":"Zhang","year":"2019","journal-title":"Cornea"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483520306564?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483520306564?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T05:33:11Z","timestamp":1762147991000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483520306564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":138,"alternative-id":["S0014483520306564"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2020.108398","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Update on the genetics of keratoconus","name":"articletitle","label":"Article Title"},{"value":"Experimental Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.exer.2020.108398","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108398"}}