Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998;42(4):297–319.
Article CAS PubMed Google Scholar
Kymes SM, Walline JJ, Zadnik K, Sterling J, Gordon MO, Collaborative Longitudinal Evaluation of Keratoconus Study Group. Changes in the quality-of-life of people with keratoconus. Am J Ophthalmol. 2008;145(4):611–7.
Article PubMed PubMed Central Google Scholar
Galvis V, Tello A, Barrera R, Niño CA. Inflammation in keratoconus. Cornea. 2015;34(8):e22–3.
Elbeyli A, Kurtul BE. Systemic immune-inflammation index, neutrophil-to-lymphocyte ratio, and platelet-to-lymphocyte ratio levels are associated with keratoconus. Indian J Ophthalmol. 2021;69(7):1725–9.
Article PubMed PubMed Central Google Scholar
Loh IP, Sherwin T. Is keratoconus an inflammatory disease? The implication of inflammatory pathways. Ocul Immunol Inflamm. 2022;30(1):246–55.
Article CAS PubMed Google Scholar
Rabinowitz YS, Galvis V, Tello A, Rueda D, Garcia JD. Genetics vs chronic corneal mechanical trauma in the etiology of keratoconus. Exp Eye Res. 2021;202:108328.
Article CAS PubMed Google Scholar
Bui AD, Truong A, Pasricha ND, Indaram M. Keratoconus diagnosis and treatment: recent advances and future directions. Clin Ophthalmol. 2023;17:2705–18.
Article PubMed PubMed Central Google Scholar
Chan E, Chong EW, Lingham G, Stevenson LJ, Sanfilippo PG, Hewitt AW, et al. Prevalence of keratoconus based on Scheimpflug imaging: the Raine Study. Ophthalmology. 2021;128(4):515–21.
Hashemi H, Khabazkhoob M, Fotouhi A. Topographic keratoconus is not rare in an Iranian population: the Tehran Eye Study. Ophthalmic Epidemiol. 2013;20(6):385–91.
Papali’i-Curtin AT, Cox R, Ma T, Woods L, Covello A, Hall RC. Keratoconus prevalence among high school students in New Zealand. Cornea. 2019;38(11):1382–9.
Al-Amri AM. Prevalence of keratoconus in a refractive surgery population. J Ophthalmol. 2018;2018:5983530.
Article PubMed PubMed Central Google Scholar
Tuft SJ, Hassan H, George S, Frazer DG, Willoughby CE, Liskova P. Keratoconus in 18 pairs of twins. Acta Ophthalmol. 2012;90(6):e482–6.
Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000;93(5):403–9.
Article CAS PubMed Google Scholar
Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, et al. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci. 2009;50(3):1081–6.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013;45(2):155–63.
Article CAS PubMed PubMed Central Google Scholar
Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, et al. Genetic variants associated with corneal biomechanical properties and potentially conferring susceptibility to keratoconus in a genome-wide association study. JAMA Ophthalmol. 2019;137(9):1005–12.
Article PubMed PubMed Central Google Scholar
Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Hohn R, Springelkamp H, et al. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018;9(1):1864.
Article PubMed PubMed Central Google Scholar
Choquet H, Melles RB, Yin J, Hoffmann TJ, Thai KK, Kvale MN, et al. A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. Commun Biol. 2020;3(1):301.
Article CAS PubMed PubMed Central Google Scholar
Liskova P, Dudakova L, Krepelova A, Klema J, Hysi PG. Replication of SNP associations with keratoconus in a Czech cohort. PLoS One. 2017;12(2):e0172365.
Article PubMed PubMed Central Google Scholar
Gordon-Shaag A, Millodot M, Shneor E, Liu Y. The genetic and environmental factors for keratoconus. Biomed Res Int. 2015;2015:795738.
Article PubMed PubMed Central Google Scholar
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, et al. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Commun Biol. 2021;4(1):266.
Article CAS PubMed PubMed Central Google Scholar
Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11(9):1029–36.
Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea. 2008;27(2):189–92.
Tanwar M, Kumar M, Nayak B, Pathak D, Sharma N, Titiyal JS, et al. VSX1 gene analysis in keratoconus. Mol Vis. 2010;16:2395–401.
CAS PubMed PubMed Central Google Scholar
Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, et al. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. Mol Vis. 2011;17:827–43.
CAS PubMed PubMed Central Google Scholar
Stabuc-Silih M, Ravnik-Glavac M, Glavac D, Hawlina M, Strazisar M. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. Mol Vis. 2009;15:2848–60.
CAS PubMed PubMed Central Google Scholar
Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, et al. Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet. 2012;20(4):389–97.
Article CAS PubMed Google Scholar
Bykhovskaya Y, Li X, Epifantseva I, Haritunians T, Siscovick D, Aldave A, et al. Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies. Invest Ophthalmol Vis Sci. 2012;53(7):4152–7.
Article CAS PubMed PubMed Central Google Scholar
Rabinowitz YS, McDonnell PJ. Computer-assisted corneal topography in keratoconus. Refract Corneal Surg. 1989;5(6):400–8.
Article CAS PubMed Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article CAS PubMed PubMed Central Google Scholar
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078–9.
Article PubMed PubMed Central Google Scholar
Su J, Yuan J, Xu L, Xing S, Sun M, Yao Y, et al. Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population. Cell Rep. 2023;42(5):112510.
Comments (0)