{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:17:05Z","timestamp":1793229425330,"version":"4.5.0"},"reference-count":153,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","surveyophthalmol.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Survey of Ophthalmology"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.survophthal.2017.06.009","type":"journal-article","created":{"date-parts":[[2017,7,5]],"date-time":"2017-07-05T23:15:16Z","timestamp":1499296516000},"page":"770-783","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":396,"title":["A review of keratoconus: Diagnosis, pathophysiology, and genetics"],"prefix":"10.1016","volume":"62","author":[{"given":"Veronica","family":"Mas Tur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"MacGregor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh","family":"Jayaswal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"O'Brart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Maycock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.survophthal.2017.06.009_bib1","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ophtha.2006.10.022","article-title":"Vertical D: a novel topographic pattern in some keratoconus suspects","volume":"114","author":"Abad","year":"2007","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib2","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/S0002-9394(14)75135-9","article-title":"Recurrent keratoconus after keratoplasty","volume":"90","author":"Abelson","year":"1980","journal-title":"Am J Ophthalmol"},{"issue":"5","key":"10.1016\/j.survophthal.2017.06.009_bib3","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.ajhg.2008.04.001","article-title":"Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome","volume":"82","author":"Abu","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.survophthal.2017.06.009_bib4","doi-asserted-by":"crossref","first-page":"2820","DOI":"10.1167\/iovs.05-1530","article-title":"No VSX1 gene mutations associated with keratoconus","volume":"47","author":"Aldave","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib5","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.jcrs.2010.10.046","article-title":"Keratoconus-integrated characterization considering anterior corneal aberrations, internal astigmatism, and corneal biomechanics","volume":"37","author":"Alio","year":"2011","journal-title":"J\u00a0Cataract Refract Surg"},{"issue":"11","key":"10.1016\/j.survophthal.2017.06.009_bib6","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1016\/j.jcrs.2006.06.025","article-title":"Corneal-thickness spatial profile and corneal volume distribution: tomographic indices to detect keratoconus","volume":"32","author":"Ambrosio","year":"2006","journal-title":"J\u00a0Cataract Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib7","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3928\/1081597X-20101006-01","article-title":"Imaging of the cornea: topography vs tomography","volume":"26","author":"Ambrosio","year":"2010","journal-title":"J\u00a0Refract Surg"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib8","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/IIO.0b013e31820f1d2d","article-title":"Evaluation of corneal shape and biomechanics before LASIK","volume":"51","author":"Ambrosio","year":"2011","journal-title":"Int Ophthalmol Clin"},{"key":"10.1016\/j.survophthal.2017.06.009_bib9","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1159\/000299577","article-title":"Le keratocone fruste au javal","volume":"96","author":"Amsler","year":"1938","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.survophthal.2017.06.009_bib10","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1159\/000300309","article-title":"Keratocone classique et keratocone fruste, arguments unitaire","volume":"111","author":"Amsler","year":"1946","journal-title":"Ophthalmologica"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib11","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/S0014-4835(80)80027-3","article-title":"Biomechanical properties of keratoconus and normal corneas","volume":"31","author":"Andreassen","year":"1980","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.survophthal.2017.06.009_bib12","series-title":"Poster presented at: the ASCRS Symposium and Congress","article-title":"Qualitative and quantitative analysis of aspheric symmetry and asymmetry on corneal surfaces","author":"Arce","year":"2010"},{"key":"10.1016\/j.survophthal.2017.06.009_bib13","doi-asserted-by":"crossref","first-page":"8592","DOI":"10.1167\/iovs.11-7732","article-title":"Oxidative stress in keratoconus?","volume":"52","author":"Arnal","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib14","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1167\/iovs.04-1395","article-title":"Accumulation of mitochondrial DNA damage in keratoconus corneas","volume":"46","author":"Atilano","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib15","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/nrg3031","article-title":"sequencing as a tool for Mendelian disease gene discovery","volume":"12","author":"Bamshad","year":"2011","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.survophthal.2017.06.009_bib16","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1056\/NEJMoa1007064","article-title":"E2-2 protein and Fuchs's corneal dystrophy","volume":"11","author":"Baratz","year":"2010","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.survophthal.2017.06.009_bib17","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/eye.2014.333","article-title":"Acute corneal hydrops in keratoconus: a national prospective study of incidence and management","volume":"29","author":"Barsam","year":"2015","journal-title":"Eye"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib18","first-page":"85","article-title":"A\u00a0new tomographic method of grading keratoconus: the ABCD Grading system","volume":"4","author":"Belin","year":"2015","journal-title":"Int J Kerat Ect Cor Dis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib19","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1442-9071.2008.01821.x","article-title":"An introduction to understanding elevation-based topography: how elevation data are displayed \u2013 a review","volume":"37","author":"Belin","year":"2009","journal-title":"Clin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib20","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1097\/MOP.0b013e32834b20ec","article-title":"Whole exome and whole genome sequencing","volume":"23","author":"Bick","year":"2011","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.survophthal.2017.06.009_bib21","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1167\/iovs.04-0533","article-title":"VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation","volume":"46","author":"Bisceglia","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib22","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1167\/iovs.08-2382","article-title":"Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci","volume":"50","author":"Bisceglia","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib23","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1016\/S0161-6420(03)00617-1","article-title":"Recurrence of keratoconus characteristics: a clinical and histological follow-up analysis of donor grafts","volume":"110","author":"Bourges","year":"2003","journal-title":"Ophthalmology"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib24","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1097\/00003226-198803000-00001","article-title":"Keratoconus","volume":"7","author":"Bron","year":"1988","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib25","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1177\/002215540205000306","article-title":"Evidence of oxidative stress in human corneal diseases","volume":"50","author":"Buddi","year":"2002","journal-title":"J\u00a0Histochem Cytochem"},{"key":"10.1016\/j.survophthal.2017.06.009_bib26","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib27","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1111\/cxo.12024","article-title":"Insights into keratoconus from a genetic perspective","volume":"2","author":"Burdon","year":"2013","journal-title":"Clin Exp Optom"},{"key":"10.1016\/j.survophthal.2017.06.009_bib28","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":"7","author":"Bykhovskaya","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib29","first-page":"63","article-title":"Collagen cross linking in keratoconus","volume":"17","author":"Cannon","year":"1978","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib30","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.jprot.2013.05.023","article-title":"The keratoconus corneal proteome: loss of epithelial integrity and stromal degeneration","volume":"87","author":"Chaerkady","year":"2013","journal-title":"J\u00a0Proteomics"},{"key":"10.1016\/j.survophthal.2017.06.009_bib31","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1073\/pnas.0306520101","article-title":"Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1","volume":"101","author":"Chow","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.survophthal.2017.06.009_bib32","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":"5","key":"10.1016\/j.survophthal.2017.06.009_bib33","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1159\/000308839","article-title":"Value of therapeutic soft contact lenses in the treatment of recurrent corneal erosions","volume":"178","author":"Damaske","year":"1979","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.survophthal.2017.06.009_bib34","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1038\/eye.2009.217","article-title":"Mutational screening of VSX1 in keratoconus patients from the European population","volume":"24","author":"Dash","year":"2010","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.survophthal.2017.06.009_bib35","first-page":"499","article-title":"Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis","volume":"12","author":"Dash","year":"2006","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib36","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/eye.2013.278","article-title":"The pathogenesis of keratoconus","volume":"28","author":"Davidson","year":"2014","journal-title":"Eye"},{"key":"10.1016\/j.survophthal.2017.06.009_bib37","first-page":"121","article-title":"Collagen fibril orientation in the human corneal stroma and its implication in keratoconus","volume":"38","author":"Daxer","year":"1997","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib38","first-page":"2482","article-title":"Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus","volume":"17","author":"De Bonis","year":"2011","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib39","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1159\/000328408","article-title":"A\u00a0prospective study of filaggrin null mutations in keratoconus patients with or without atopic disorders","volume":"4","author":"Droitcourt","year":"2011","journal-title":"Dermatology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib40","first-page":"3","article-title":"Assessing progression of keratoconus: novel tomographic determinants","volume":"11","author":"Duncan","year":"2016","journal-title":"Eye Vis (Lond)"},{"key":"10.1016\/j.survophthal.2017.06.009_bib41","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1080\/13816810802008242","article-title":"The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?","volume":"29","author":"Eran","year":"2008","journal-title":"Ophthalmic Genet"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib42","first-page":"328","article-title":"Recurrent keratoconus in corneal graft after DALK procedure","volume":"7","author":"Feizi","year":"2012","journal-title":"J\u00a0Ophthalmic Vis Res"},{"key":"10.1016\/j.survophthal.2017.06.009_bib43","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ophtha.2009.09.023","article-title":"Corneal biomechanical metrics and anterior segment parameters in mild keratoconus","volume":"117","author":"Fontes","year":"2010","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib44","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1167\/iovs.08-2173","article-title":"Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32","volume":"50","author":"Gajecka","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib45","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib46","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1097\/ICO.0000000000000408","article-title":"Global consensus on keratoconus and ectatic disease","volume":"34","author":"Gomes","year":"2015","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib47","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF00407890","article-title":"Zur genetic des keratoconus","volume":"190","author":"Hammerstein","year":"1974","journal-title":"Albrecht Von Graefes Arch Klin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib48","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1006\/geno.2000.6248","article-title":"RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina","volume":"67","author":"Hayashi","year":"2000","journal-title":"Genomics"},{"issue":"9","key":"10.1016\/j.survophthal.2017.06.009_bib49","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib50","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1093\/hmg\/4.3.485","article-title":"Linkage of posterior polymorphous corneal dystrophy to 20q11","volume":"4","author":"Heon","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.survophthal.2017.06.009_bib51","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/00006324-195901000-00002","article-title":"A\u00a0keratoscopic survey of 13,395 eyes","volume":"36","author":"Hofstetter","year":"1959","journal-title":"Am J Optom Arch Am Acad Optom"},{"key":"10.1016\/j.survophthal.2017.06.009_bib52","series-title":"Manual of contact lens prescribing and fitting","first-page":"503","author":"Hom","year":"2006"},{"issue":"1","key":"10.1016\/j.survophthal.2017.06.009_bib53","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1167\/iovs.12-10984","article-title":"A\u00a0new tonometer\u2014the Corvis ST tonometer: clinical comparison with non-contact and Goldmann applanation tonometers","volume":"54","author":"Hong","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib54","first-page":"71","article-title":"Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes","volume":"14","author":"Hosseini","year":"2008","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib55","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":"9","key":"10.1016\/j.survophthal.2017.06.009_bib56","first-page":"434","article-title":"Recurrence of keratoconus after keratoplasty","volume":"68","author":"Jahne","year":"1974","journal-title":"Z\u00a0Artzl Fortbild (Jena)"},{"key":"10.1016\/j.survophthal.2017.06.009_bib57","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/eye.1996.99","article-title":"Topographic analysis in pellucid marginal degeneration and keratoglobus","volume":"10","author":"Karabatsas","year":"1996","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.survophthal.2017.06.009_bib58","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1186\/1471-2164-11-715","article-title":"miRNeye: a microRNA expression atlas of the mouse eye","volume":"11","author":"Karali","year":"2010","journal-title":"BMC Genomics"},{"key":"10.1016\/j.survophthal.2017.06.009_bib59","first-page":"827","article-title":"Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus","volume":"17","author":"Karolak","year":"2011","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib60","first-page":"1145","article-title":"Comparative integromics on angiopoietin family members","volume":"17","author":"Katoh","year":"2006","journal-title":"Int J Mol Med"},{"key":"10.1016\/j.survophthal.2017.06.009_bib61","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S1367-0484(03)00022-5","article-title":"The cascade hypothesis of keratoconus","volume":"26","author":"Kenney","year":"2003","journal-title":"Cont Lens Anterior Eye"},{"key":"10.1016\/j.survophthal.2017.06.009_bib62","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1167\/iovs.04-0549","article-title":"Increased levels of catalase and cathepsin V\/L2 but decreased TIMP-1 in keratoconus corneas: Evidence that oxidative stress plays a role in this disorder","volume":"46","author":"Kenney","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib63","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1097\/00003226-199403000-00003","article-title":"Increased gelatinolytic activity in keratoconus cultures. A correlation to an altered matrix metalloproteinase-2\/tissue inhibitor of metalloproteinase ratio","volume":"13","author":"Kenney","year":"1994","journal-title":"Cornea"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib64","doi-asserted-by":"crossref","DOI":"10.1016\/j.ophtha.2009.01.009","article-title":"Posterior elevation in keratoconus","volume":"116","author":"Khachikian","year":"2009","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib65","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1006\/exer.1999.0719","article-title":"Keratocyte apoptosis associated with keratoconus","volume":"5","author":"Kim","year":"1999","journal-title":"Exp Eye Res"},{"key":"10.1016\/j.survophthal.2017.06.009_bib66","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1001\/archopht.1978.03910060051009","article-title":"Pellucid marginal corneal degeneration","volume":"96","author":"Krachmer","year":"1978","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib67","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0039-6257(84)90094-8","article-title":"Keratoconus and related non-inflammatory corneal thinning disorders","volume":"28","author":"Krachmer","year":"1984","journal-title":"Surv Ophthalmol"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib68","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0002-9394(14)71239-5","article-title":"Histological evidence of recurrent keratoconus seven years after keratoplasty","volume":"119","author":"Kremer","year":"1995","journal-title":"Am J Ophthalmol"},{"issue":"5","key":"10.1016\/j.survophthal.2017.06.009_bib69","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/S0002-9394(00)00885-0","article-title":"Postkeratoplasty keratoconus in a non-keratoconic patient","volume":"131","author":"Krivey","year":"2001","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib70","doi-asserted-by":"crossref","first-page":"357","DOI":"10.3928\/1081597X-20090401-07","article-title":"Circular keratotomy to reduce astigmatism and improve vision in stage I and II keratoconus","volume":"25","author":"Krumeich","year":"2009","journal-title":"J\u00a0Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib71","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1097\/ICO.0b013e3181d007e1","article-title":"Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus","volume":"29","author":"Lam","year":"2010","journal-title":"Cornea"},{"issue":"5","key":"10.1016\/j.survophthal.2017.06.009_bib72","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-phenotype correlation","volume":"54","author":"Lechner","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib73","first-page":"2480","article-title":"Evaluation of differentially expressed genes identified in keratoconus","volume":"15","author":"Lee","year":"2009","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib74","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.ophtha.2004.11.050","article-title":"Inflammatory molecules in the tears of patients with keratoconus","volume":"112","author":"Lema","year":"2005","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib75","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1097\/ICO.0b013e31816a3591","article-title":"Inflammatory response to contact lenses in patients with keratoconus compared with myopic subjects","volume":"27","author":"Lema","year":"2008","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib76","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1136\/bjo.2008.144253","article-title":"Subclinical keratoconus and inflammatory molecules from tears","volume":"93","author":"Lema","year":"2009","journal-title":"Br J Ophthalmol"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib77","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib78","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1093\/hmg\/ddr460","article-title":"A\u00a0genome-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.survophthal.2017.06.009_bib79","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib80","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":"9","key":"10.1016\/j.survophthal.2017.06.009_bib81","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/j.jcrs.2009.03.050","article-title":"Keratoconus: Classification scheme based on videokeratography and clinical signs","volume":"35","author":"Li","year":"2009","journal-title":"J\u00a0Cataract Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib82","first-page":"1887","article-title":"Molecular analysis of the VSX1 gene in familial keratoconus","volume":"13","author":"Liskova","year":"2007","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib83","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1152\/physiolgenomics.00140.2009","article-title":"Quantitative trait loci associated with murine central corneal thickness","volume":"2","author":"Lively","year":"2010","journal-title":"Physiol Genomics"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib84","first-page":"167","article-title":"Correlation of topometric and topographic indices with visual acuity in patients with KCN","volume":"1","author":"Lopes","year":"2012","journal-title":"J\u00a0Kerat Ect Cor Dis"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib85","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":"1","key":"10.1016\/j.survophthal.2017.06.009_bib86","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.jcrs.2004.10.044","article-title":"Determining in\u00a0vivo biomechanical properties of the cornea with an ocular response analyzer","volume":"31","author":"Luce","year":"2005","journal-title":"J\u00a0Cataract Refract Surg"},{"issue":"6","key":"10.1016\/j.survophthal.2017.06.009_bib87","first-page":"2749","article-title":"Automated keratoconus screening with corneal topography analysis","volume":"35","author":"Maeda","year":"1994","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"6","key":"10.1016\/j.survophthal.2017.06.009_bib88","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.ajo.2013.07.018","article-title":"Expanding the\u00a0cone location and magnitude index to include corneal thickness and posterior surface information for the detection of KCN","volume":"156","author":"Mahmoud","year":"2013","journal-title":"Am J Ophthalmol"},{"issue":"6","key":"10.1016\/j.survophthal.2017.06.009_bib89","doi-asserted-by":"crossref","first-page":"522","DOI":"10.3109\/02713683.2011.553306","article-title":"Reduction in corneal volume with severity of keratoconus","volume":"36","author":"Mannion","year":"2011","journal-title":"Curr Eye Res"},{"key":"10.1016\/j.survophthal.2017.06.009_bib90","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1056\/NEJMra0905980","article-title":"Genome-wide association studies and assessment of the risk of disease","volume":"2","author":"Manolio","year":"2010","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.survophthal.2017.06.009_bib91","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1016\/j.exer.2007.02.013","article-title":"Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and -3 may promote keratocyte apoptosis in keratoconus","volume":"84","author":"Matthews","year":"2007","journal-title":"Exp Eye Res"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib92","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1442-9071.2009.02009.x","article-title":"150 years of practical observations in the conical cornea \u2013 what have we learned?","volume":"37","author":"McGhee","year":"2009","journal-title":"Clin Exp Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib93","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.1167\/iovs.04-1253","article-title":"Changes in collagen orientation and distribution in keratoconus corneas","volume":"46","author":"Meek","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib94","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib95","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/j.ophtha.2003.07.006","article-title":"VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells","volume":"111","author":"Mintz-Hittner","year":"2004","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib96","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1007\/s10038-008-0319-6","article-title":"VSX1 gene variants are associated with keratoconus in unrelated Korean patients","volume":"53","author":"Mok","year":"2008","journal-title":"J\u00a0Hum Genet"},{"issue":"7","key":"10.1016\/j.survophthal.2017.06.009_bib97","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1097\/ICO.0b013e3182904950","article-title":"Correlation of anterior and posterior corneal shape in keratoconus","volume":"32","author":"Montalban","year":"2013","journal-title":"Cornea"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib98","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1167\/iovs.06-1177","article-title":"Second harmonic imaging microscopy of normal and keratoconus cornea","volume":"48","author":"Morshige","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib99","doi-asserted-by":"crossref","unstructured":"Nielsen K, Birkenkamp-Demtr\u00f6der K, Ehlers N, et al. Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. Invest Ophthalmol Vis Sci. 2003;44(6):2466\u201376.","DOI":"10.1167\/iovs.02-0671"},{"issue":"1","key":"10.1016\/j.survophthal.2017.06.009_bib100","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1136\/bjo.67.1.23","article-title":"Recurrence if keratoconus in a donor cornea 22yrs after successful keratoplasty","volume":"67","author":"Nirankari","year":"1983","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib101","first-page":"210","article-title":"Superoxide dismutase\u2013applications and relevance to human diseases","volume":"8","author":"Noor","year":"2002","journal-title":"Med Sci Monit"},{"key":"10.1016\/j.survophthal.2017.06.009_bib102","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.cub.2004.02.027","article-title":"Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1","volume":"14","author":"Ohtoshi","year":"2004","journal-title":"Curr Biol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib103","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1016\/j.jcrs.2007.04.021","article-title":"Corneal biomechanical properties in normal, post-laser in situ keratomileusis, and keratoconic eyes","volume":"33","author":"Ortiz","year":"2007","journal-title":"J\u00a0Cataract Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib104","first-page":"2475","article-title":"A\u00a0novel VSX1 mutation identified in an individual with keratoconus in India","volume":"15","author":"Paliwal","year":"2009","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib105","first-page":"481","article-title":"Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus","volume":"17","author":"Paliwal","year":"2011","journal-title":"Mol Vis"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib106","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1136\/bjo.2008.142117","article-title":"Recurrent ectasia in corneal grafts and outcomes if repeat keratoplasty for keratoconus","volume":"93","author":"Patel","year":"2009","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib107","first-page":"1514","article-title":"Mitochondrial complex 1 gene analysis in keratoconus","volume":"17","author":"Pathak","year":"2011","journal-title":"Mol Vis"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib108","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/eye.2000.154","article-title":"Does ethnic influence the incidence or severity of keratoconus","volume":"14","author":"Pearson","year":"2000","journal-title":"Eye"},{"key":"10.1016\/j.survophthal.2017.06.009_bib109","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/S0161-6420(80)35145-2","article-title":"Round and oval cones in keratoconus","volume":"87","author":"Perry","year":"1980","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib110","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/j.jcrs.2014.03.021","article-title":"In\u00a0vivo characterization of corneal biomechanics","volume":"40","author":"Pinero","year":"2014","journal-title":"J\u00a0Cataract Refract Surg"},{"issue":"5","key":"10.1016\/j.survophthal.2017.06.009_bib111","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/j.jcrs.2009.11.012","article-title":"Corneal volume, pachymetry and correlation of anterior and posterior corneal shape in subclinical and different stages of clinical KCN","volume":"36","author":"Pinero","year":"2010","journal-title":"J\u00a0Cataract Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib112","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0039-6257(76)90066-7","article-title":"Contributions of electron microscopy to the study of corneal pathology","volume":"20","author":"Polack","year":"1976","journal-title":"Surv Ophthalmol"},{"issue":"9","key":"10.1016\/j.survophthal.2017.06.009_bib113","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1016\/j.ophtha.2006.02.058","article-title":"Extended long-term outcomes of penetrating keratoplasty for keratoconus","volume":"113","author":"Pramanik","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.survophthal.2017.06.009_bib114","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":"10","key":"10.1016\/j.survophthal.2017.06.009_bib115","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1016\/S0886-3350(99)00195-9","article-title":"KISA% index: a quantitive videokeratography algorithm embodying minimal topographic criteria for diagnosis keratoconus","volume":"25","author":"Rabinowitz","year":"1999","journal-title":"J\u00a0Cataract Refract Surg"},{"issue":"7","key":"10.1016\/j.survophthal.2017.06.009_bib116","doi-asserted-by":"crossref","first-page":"604","DOI":"10.3928\/1081597X-20090610-06","article-title":"Corneal epithelial thickness profile in the diagnosis of keratoconus","volume":"25","author":"Reinstein","year":"2009","journal-title":"J\u00a0Refract Surg"},{"key":"10.1016\/j.survophthal.2017.06.009_bib117","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.clae.2010.04.006","article-title":"Keratoconus: a review","volume":"33","author":"Romero-Jimenez","year":"2010","journal-title":"Cont Lens Anterior Eye"},{"key":"10.1016\/j.survophthal.2017.06.009_bib118","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.survophthal.2017.06.009_bib119","doi-asserted-by":"crossref","first-page":"4951","DOI":"10.1074\/jbc.M110.181099","article-title":"Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp","volume":"286","author":"Runager","year":"2011","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.survophthal.2017.06.009_bib120","first-page":"1175","article-title":"MicroRNAs of the mammalian eye display distinct and overlapping tissue specificity","volume":"12","author":"Ryan","year":"2006","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib121","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.survophthal.2017.06.009_bib122","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1167\/iovs.11-8281","article-title":"Brillouin optical microscopy for corneal biomechanics","volume":"53","author":"Scarcelli","year":"2012","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib123","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1167\/iovs.09-3689","article-title":"Screening of forme fruste keratoconus with the ocular response analyzer","volume":"51","author":"Schweitzer","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib124","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1006\/geno.1999.6093","article-title":"Isolation and characterization of a novel human paired- like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues","volume":"63","author":"Semina","year":"2000","journal-title":"Genomics"},{"key":"10.1016\/j.survophthal.2017.06.009_bib125","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.clae.2008.12.009","article-title":"Comparison of corneal biomechanics in pre and post refractive surgery and keratoconic eyes by the Ocular Response Analyzer","volume":"32","author":"Shah","year":"2009","journal-title":"Cont Lens Anterior Eye"},{"key":"10.1016\/j.survophthal.2017.06.009_bib126","doi-asserted-by":"crossref","first-page":"3026","DOI":"10.1167\/iovs.04-0694","article-title":"Assessment of the biomechanical properties of the cornea with the ocular response analyzer in normal and keratoconic eyes","volume":"48","author":"Shah","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib127","first-page":"2598","article-title":"Attenuation of corneal\u00a0myofibroblast development through nanoparticle-mediated soluble transforming growth factor-beta type II receptor (sTGFbetaRII) gene transfer","volume":"18","author":"Sharma","year":"2012","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib128","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.exer.2010.06.020","article-title":"AAV serotype influences gene transfer in corneal stroma in\u00a0vivo","volume":"3","author":"Sharma","year":"2010","journal-title":"Exp Eye Res"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib129","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1006\/exer.2001.1157","article-title":"Cellular incursion into Bowman's membrane in the peripheral cone of the keratoconic cornea","volume":"74","author":"Sherwin","year":"2002","journal-title":"Exp Eye Res"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib130","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3928\/1081597X-20130318-07","article-title":"Influence of the reference surface shape for discriminating between normal corneas, subclinical keratoconus and keratoconus","volume":"29","author":"Smadja","year":"2013","journal-title":"J\u00a0Refract Surg"},{"issue":"2","key":"10.1016\/j.survophthal.2017.06.009_bib131","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.ajo.2013.03.034","article-title":"Detection of subclinical keratoconus using an automated decision tree classification","volume":"156","author":"Smadja","year":"2013","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib132","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.survophthal.2017.06.009_bib133","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1097\/ICO.0b013e3181aebf7a","article-title":"Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus","volume":"29","author":"Stabuc-Silih","year":"2010","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib134","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/j.1442-9071.2009.02216.x","article-title":"Secreted frizzled-related protein 1 (SFRP1) is highly upregulated in keratoconus epithelium: A novel finding highlighting a new potential focus for keratoconus research and treatment","volume":"38","author":"Sutton","year":"2010","journal-title":"Clin Exp Ophthalmol"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib135","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/s10384-007-0453-2","article-title":"Longitudinal changes in corneal irregular astigmatism and visual acuity in eyes with KCN","volume":"51","author":"Suzuki","year":"2007","journal-title":"Jpn J Ophthalmol"},{"key":"10.1016\/j.survophthal.2017.06.009_bib136","first-page":"1068","article-title":"Quantitative analysis of collagen fiberin keratoconus","volume":"94","author":"Takahashi","year":"1990","journal-title":"Nihon Ganka Gakkai Zasshi"},{"key":"10.1016\/j.survophthal.2017.06.009_bib137","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.survophthal.2017.06.009_bib138","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1097\/01.GIM.0000170772.41860.54","article-title":"Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1","volume":"7","author":"Tang","year":"2005","journal-title":"Genet Med"},{"key":"10.1016\/j.survophthal.2017.06.009_bib139","first-page":"2395","article-title":"VSX1 gene analysis in keratoconus","volume":"16","author":"Tanwar","year":"2010","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib140","doi-asserted-by":"crossref","first-page":"R145","DOI":"10.1093\/hmg\/ddq333","article-title":"Exome sequencing: the sweet spot before whole genomes","volume":"19","author":"Teer","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.survophthal.2017.06.009_bib141","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1046\/j.1475-1313.2002.00046.x","article-title":"Recurrent keratoconus 40 years after keratoplasty","volume":"22","author":"Thalasselis","year":"2002","journal-title":"Ophthalmic Physiol Opt"},{"key":"10.1016\/j.survophthal.2017.06.009_bib142","first-page":"178","article-title":"Corneal asphericity changes after implantation of intrastromal corneal ring segments in Keratoconus","volume":"1","author":"Tourquetti","year":"2010","journal-title":"J\u00a0Emmetropia"},{"key":"10.1016\/j.survophthal.2017.06.009_bib143","first-page":"3160","article-title":"A\u00a0locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families","volume":"43","author":"Tyynismaa","year":"2002","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.survophthal.2017.06.009_bib144","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib145","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1097\/ICO.0b013e3181983a0c","article-title":"SOD1 haplotypes in familial keratoconus","volume":"28","author":"Udar","year":"2009","journal-title":"Cornea"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib146","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/ICO.0b013e31802c9e2e","article-title":"Recurrence of keratoconus in 2 corneal grafts after penetrating keratoplasty","volume":"26","author":"Unal","year":"2007","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib147","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ophtha.2009.07.002","article-title":"Role of the hepatocyte growth factor gene in refractive error","volume":"117","author":"Veerappan","year":"2010","journal-title":"Ophthalmology"},{"issue":"3","key":"10.1016\/j.survophthal.2017.06.009_bib148","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"},{"key":"10.1016\/j.survophthal.2017.06.009_bib149","first-page":"737","article-title":"Absence of Vsx1 expression in the normal and damaged mouse cornea","volume":"17","author":"Watson","year":"2011","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib150","article-title":"The genetics of keratoconus: A review","author":"Wheeler","year":"2012","journal-title":"Reprod Syst Sex Disord"},{"issue":"1","key":"10.1016\/j.survophthal.2017.06.009_bib151","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1097\/00003226-199101000-00002","article-title":"Corneal topography of keratoconus","volume":"10","author":"Wilson","year":"1991","journal-title":"Cornea"},{"key":"10.1016\/j.survophthal.2017.06.009_bib152","first-page":"1028","article-title":"Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population","volume":"15","author":"Yanovitch","year":"2009","journal-title":"Mol Vis"},{"key":"10.1016\/j.survophthal.2017.06.009_bib153","first-page":"1117","article-title":"Expression of degradative enzymes and protease inhibitors in corneas with keratoconus","volume":"39","author":"Zhou","year":"1998","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Survey of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625717300462?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0039625717300462?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T11:44:26Z","timestamp":1758541466000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0039625717300462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":153,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S0039625717300462"],"URL":"https:\/\/doi.org\/10.1016\/j.survophthal.2017.06.009","relation":{},"ISSN":["0039-6257"],"issn-type":[{"value":"0039-6257","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A review of keratoconus: Diagnosis, pathophysiology, and genetics","name":"articletitle","label":"Article Title"},{"value":"Survey of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.survophthal.2017.06.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}