The genetics of central corneal thickness

British Journal of Ophthalmology

Volumn 94, Issue 8, 2010, Pages 971-976

  Dimasi, D P ^a   Burdon, K P ^a   Craig, Jamie E ^a  

^a FLINDERS UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ANTERIOR SEGMENT DYSGENESIS; AXENFELD REIGER SYNDROME; BEHCET DISEASE; CORNEA STROMA; CORNEA THICKNESS; DEVELOPMENTAL DISORDER; DIZYGOTIC TWINS; EHLERS DANLOS SYNDROME; ENVIRONMENTAL FACTOR; ETHNIC DIFFERENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HERITABILITY; HUMAN; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MARFAN SYNDROME; MONOZYGOTIC TWINS; OPEN ANGLE GLAUCOMA; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; REVIEW; ULTRASOUND; WEILL MARCHESANI SYNDROME;

ADULT; AGED; AGED, 80 AND OVER; CORNEA; ETHNIC GROUPS; GLAUCOMA, OPEN-ANGLE; HUMANS; MIDDLE AGED; QUANTITATIVE TRAIT, HERITABLE;

EID: 77954982071     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2009.162735     Document Type: Review

References (101)

1. Blix M. Oftalmometriska studier. Uppsala Lakareforen Forh 1880;15:349-420.
2. Alsbirk PH. Corneal thickness. II. Environmental and genetic factors. Acta Ophthalmol (Copenh) 1978;56:105-13.
3. Toh T, Liew SH, MacKinnon JR, et al. Central corneal thickness is highly heritable: the twin eye studies. Invest Ophthalmol Vis Sci 2005;46:3718-22. (Pubitemid 44264677)
4. Zheng Y, Ge J, Huang G, et al. Heritability of central corneal thickness in Chinese: the Guangzhou Twin Eye Study. Invest Ophthalmol Vis Sci 2008;49:4303-7.
5. Doughty MJ, Zaman ML. Human corneal thickness and its impact on intraocular pressure measures: a review and meta-analysis approach. Surv Ophthalmol 2000;44:367-408.
6. Landers JA, Hewitt AW, Dimasi DP, et al. Heritability of central corneal thickness in nuclear families. Invest Ophthalmol Vis Sci 2009;50:4087-90.
7. Spence MA, Westlake J, Lange K. Estimation of the variance components for dermal ridge count. Ann Hum Genet 1977;41:111-15. (Pubitemid 8149642)
8. Martin NG, Eaves LJ, Loesch DZ. A genetical analysis of covariation between finger ridge counts. Ann Hum Biol 1982;9:539-52.
9. Loesch DZ, Huggins RM. Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families. Am J Hum Genet 1992;50:1067-76.
10. Wolfs RC, Klaver CC, Vingerling JR, et al. Distribution of central corneal thickness and its association with intraocular pressure: the Rotterdam Study. Am J Ophthalmol 1997;123:767-72.
11. Copt RP, Thomas R, Mermoud A. Corneal thickness in ocular hypertension, primary open-angle glaucoma, and normal tension glaucoma. Arch Ophthalmol 1999;117:14-16. (Pubitemid 29056714)
12. Emara BY, Tingey DP, Probst LE, et al. Central corneal thickness in low-tension glaucoma. Can J Ophthalmol 1999;34:319-24.
13. Gordon MO, Beiser JA, Brandt JD, et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol 2002;120:714-20; discussion 829-30.
14. Aghaian E, Choe JE, Lin S, et al. Central corneal thickness of Caucasians, Chinese, Hispanics, Filipinos, African Americans, and Japanese in a glaucoma clinic. Ophthalmology 2004;111:2211-19. (Pubitemid 39575591)
15. Miglior S, Pfeiffer N, Torri V, et al. Predictive factors for open-angle glaucoma among patients with ocular hypertension in the European Glaucoma Prevention Study. Ophthalmology 2007;114:3-9.
16. Lee ES, Kim CY, Ha SJ, et al. Central corneal thickness of Korean patients with glaucoma. Ophthalmology 2007;114:927-30.
17. Foster PJ, Baasanhu J, Alsbirk PH, et al. Central corneal thickness and intraocular pressure in a Mongolian population. Ophthalmology 1998;105:969-73. (Pubitemid 28268317)
18. Zhang H, Xu L, Chen C, et al. Central corneal thickness in adult Chinese. Association with ocular and general parameters. The Beijing Eye Study. Graefes Arch Clin Exp Ophthalmol 2008;246:587-92.
19. Nemesure B, Wu SY, Hennis A, et al. Corneal thickness and intraocular pressure in the Barbados eye studies. Arch Ophthalmol 2003;121:240-4. (Pubitemid 36184038)
20. Casson RJ, Abraham LM, Newland HS, et al. Corneal thickness and intraocular pressure in a nonglaucomatous Burmese population: the Meiktila Eye Study. Arch Ophthalmol 2008;126:981-5.
21. Vijaya L, George R, Baskaran M, et al. Prevalence of primary open-angle glaucoma in an urban south Indian population and comparison with a rural population. The Chennai Glaucoma Study. Ophthalmology 2008;115:648-54.e1.
22. Suzuki S, Suzuki Y, Iwase A, et al. Corneal thickness in an ophthalmologically normal Japanese population. Ophthalmology 2005;112:1327-36. (Pubitemid 41074619)
23. Su DH, Wong TY, Wong WL, et al. Diabetes, hyperglycemia, and central corneal thickness: the Singapore Malay Eye Study. Ophthalmology 2008;115:964-8.e1.
24. Healey P, Mitchell P, Rochtchina E, et al. Distribution and associations of central corneal thickness in an Australian population. Annual Scientific Congress of the Royal Australian and New Zealand College of Ophthalmologists. Hobart: Australia, 2005.
25. Eysteinsson T, Jonasson F, Sasaki H, et al. Central corneal thickness, radius of the corneal curvature and intraocular pressure in normal subjects using non-contact techniques: Reykjavik Eye Study. Acta Ophthalmol Scand 2002;80:11-15. (Pubitemid 34516325)
26. Alsbirk PH. Corneal thickness. I. Age variation, sex difference and oculometric correlations. Acta Ophthalmol (Copenh) 1978;56:95-104.
27. Hahn S, Azen S, Ying-Lai M, et al. Central corneal thickness in Latinos. Invest Ophthalmol Vis Sci 2003;44:1508-12.
28. Nissen J, Hjortdal JO, Ehlers N, et al. A clinical comparison of optical and ultrasonic pachometry. Acta Ophthalmol (Copenh) 1991;69:659-63.
29. Giasson C, Forthomme D. Comparison of central corneal thickness measurements between optical and ultrasound pachometers. Optom Vis Sci 1992;69:236-41.
30. Salz JJ, Azen SP, Berstein J, et al. Evaluation and comparison of sources of variability in the measurement of corneal thickness with ultrasonic and optical pachymeters. Ophthalmic Surg 1983;14:750-4. (Pubitemid 14226584)
31. Marsich MW, Bullimore MA. The repeatability of corneal thickness measures. Cornea 2000;19:792-5.
32. Bechmann M, Thiel MJ, Neubauer AS, et al. Central corneal thickness measurement with a retinal optical coherence tomography device versus standard ultrasonic pachymetry. Cornea 2001;20:50-4. (Pubitemid 32038155)
33. Wong AC, Wong CC, Yuen NS, et al. Correlational study of central corneal thickness measurements on Hong Kong Chinese using optical coherence tomography, Orbscan and ultrasound pachymetry. Eye 2002;16:715-21.
34. Leung DY, Lam DK, Yeung BY, et al. Comparison between central corneal thickness measurements by ultrasound pachymetry and optical coherence tomography. Clin Experiment Ophthalmol 2006;34:751-4.
35. Zhao PS, Wong TY, Wong WL, et al. Comparison of central corneal thickness measurements by visante anterior segment optical coherence tomography with ultrasound pachymetry. Am J Ophthalmol 2007;143:1047-9.
36. Barkana Y, Gerber Y, Elbaz U, et al. Central corneal thickness measurement with the Pentacam Scheimpflug system, optical low-coherence reflectometry pachymeter, and ultrasound pachymetry. J Cataract Refract Surg 2005;31:1729-35. (Pubitemid 41503429)
37. Lackner B, Schmidinger G, Pieh S, et al. Repeatability and reproducibility of central corneal thickness measurement with Pentacam, Orbscan, and ultrasound. Optom Vis Sci 2005;82:892-9.
38. Amano S, Honda N, Amano Y, et al. Comparison of central corneal thickness measurements by rotating Scheimpflug camera, ultrasonic pachymetry, and scanning-slit corneal topography. Ophthalmology 2006;113:937-41. (Pubitemid 43795239)
39. Bovelle R, Kaufman SC, Thompson HW, et al. Corneal thickness measurements with the Topcon SP-2000P specular microscope and an ultrasound pachymeter. Arch Ophthalmol 1999;117:868-70. (Pubitemid 29330771)
40. Modis L Jr, Langenbucher A, Seitz B. Corneal thickness measurements with contact and noncontact specular microscopic and ultrasonic pachymetry. Am J Ophthalmol 2001;132:517-21. (Pubitemid 32904574)
41. Suzuki S, Oshika T, Oki K, et al. Corneal thickness measurements: scanning-slit corneal topography and noncontact specular microscopy versus ultrasonic pachymetry. J Cataract Refract Surg 2003;29:1313-18. (Pubitemid 36939150)
42. Zhao MH, Zou J, Wang WQ, et al. Comparison of central corneal thickness as measured by non-contact specular microscopy and ultrasound pachymetry before and post LASIK. Clin Experiment Ophthalmol 2007;35:818-23.
43. Wu LL, Suzuki Y, Ideta R, et al. Central corneal thickness of normal tension glaucoma patients in Japan. Jpn J Ophthalmol 2000;44:643-7.
44. Landers JA, Billing KJ, Mills RA, et al. Central corneal thickness of indigenous Australians within Central Australia. Am J Ophthalmol 2007;143:360-2.
45. Durkin SR, Tan EW, Casson RJ, et al. Central corneal thickness among Aboriginal people attending eye clinics in remote South Australia. Clin Experiment Ophthalmol 2007;35:728-32.
46. Dohadwala AA, Munger R, Damji KF. Positive correlation between Tono-Pen intraocular pressure and central corneal thickness. Ophthalmology 1998;105:1849-54. (Pubitemid 28509724)
47. Lifshitz T, Levy J, Rosen S, et al. Central corneal thickness and its relationship to the patient's origin. Eye 2006;20:460-5.
48. La Rosa FA, Gross RL, Orengo-Nania S. Central corneal thickness of Caucasians and African Americans in glaucomatous and nonglaucomatous populations. Arch Ophthalmol 2001;119:23-7. (Pubitemid 32096381)
49. Shimmyo M, Ross AJ, Moy A, et al. Intraocular pressure, Goldmann applanation tension, corneal thickness, and corneal curvature in Caucasians, Asians, Hispanics, and African Americans. Am J Ophthalmol 2003;136:603-13. (Pubitemid 37153174)
50. Torres RJ, Jones E, Edmunds B, et al. Central corneal thickness in Northwestern American Indians/Alaskan Natives and comparison with white and African-American persons. Am J Ophthalmol 2008;146:747-51.
51. Brandt JD, Casuso LA, Budenz DL. Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. Am J Ophthalmol 2004;137:348-50.
52. Whitson JT, Liang C, Godfrey DG, et al. Central corneal thickness in patients with congenital aniridia. Eye Contact Lens 2005;31:221-4. (Pubitemid 43197010)
53. Lehmann OJ, Tuft S, Brice G, et al. Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function. Invest Ophthalmol Vis Sci 2003;44:2627-33.
54. Asai-Coakwell M, Backhouse C, Casey RJ, et al. Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype. Invest Ophthalmol Vis Sci 2006;47:4905-9.
55. Evereklioglu C, Er H. Increased corneal thickness in active Behcet's disease. Eur J Ophthalmol 2002;12:24-9.
56. Evereklioglu C, Yilmaz K, Bekir NA. Decreased central corneal thickness in children with Down syndrome. J Pediatr Ophthalmol Strabismus 2002;39:274-7.
57. Segev F, Heon E, Cole WG, et al. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci 2006;47:565-73.
58. Sultan G, Baudouin C, Auzerie O, et al. Cornea in Marfan disease: Orbscan and in vivo confocal microscopy analysis. Invest Ophthalmol Vis Sci 2002;43:1757-64.
59. Heur M, Costin B, Crowe S, et al. The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome. Am J Ophthalmol 2008;145:997-1001.
60. Pedersen U, Bramsen T. Central corneal thickness in osteogenesis imperfecta and otosclerosis. ORL J Otorhinolaryngol Relat Spec 1984;46:38-41. (Pubitemid 14217678)
61. Evereklioglu C, Madenci E, Bayazit YA, et al. Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera. Ophthalmic Physiol Opt 2002;22:511-15.
62. Razeghinejad MR, Safavian H. Central corneal thickness in patients with WeilleMarchesani syndrome. Am J Ophthalmol 2006;142:507-8.
63. Sykes B, Ogilvie D, Wordsworth P, et al. Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet 1990;46:293-307.
64. Malfait F, Coucke P, Symoens S, et al. The molecular basis of classic EhlerseDanlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat 2005;25:28-37.
65. Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 1993;12:54-9.
66. Pesudovs K. Orbscan mapping in Ehlers-Danlos syndrome. J Cataract Refract Surg 2004;30:1795-8.
67. Birk DE, Fitch JM, Babiarz JP, et al. Collagen type I and type V are present in the same fibril in the avian corneal stroma. J Cell Biol 1988;106:999-1008.
68. Mietz H, Kasner L, Green WR. Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. Graefes Arch Clin Exp Ophthalmol 1997;235:405-10.
69. Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330-4.
70. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991;352:337-9.
71. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992;326:905-9.
72. Dietz HC, Pyeritz RE, Puffenberger EG, et al. Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992;89:1674-80.
73. Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet 2003;40:34-6.
74. Zaidi TS, Hasan A, Baum J, et al. Localization of fibrillin in normal human and bovine corneas [ARVO abstract]. Invest Ophthalmol Vis Sci 1991;32:S875.
75. Wheatley HM, Traboulsi EI, Flowers BE, et al. Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol 1995;113:103-9.
76. Gage PJ, Rhoades W, Prucka SK, et al. Fate maps of neural crest and mesoderm in the mammalian eye. Invest Ophthalmol Vis Sci 2005;46:4200-8.
77. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 2006;90:262-7.
78. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899-905.
79. Medeiros FA, Sample PA, Weinreb RN. Corneal thickness measurements and visual function abnormalities in ocular hypertensive patients. Am J Ophthalmol 2003;135:131-7.
80. Herndon LW, Weizer JS, Stinnett SS. Central corneal thickness as a risk factor for advanced glaucoma damage. Arch Ophthalmol 2004;122:17-21.
81. Hewitt AW, Cooper RL. Relationship between corneal thickness and optic disc damage in glaucoma. Clin Experiment Ophthalmol 2005;33:158-63.
82. Medeiros FA, Sample PA, Zangwill LM, et al. Corneal thickness as a risk factor for visual field loss in patients with preperimetric glaucomatous optic neuropathy. Am J Ophthalmol 2003;136:805-13.
83. Kim JW, Chen PP. Central corneal pachymetry and visual field progression in patients with open-angle glaucoma. Ophthalmology 2004;111:2126-32.
84. Goldmann H, Schmidt T. [Applanation tonometry.]. Ophthalmologica 1957;134:221-42.
85. Kniestedt C, Lin S, Choe J, et al. Clinical comparison of contour and applanation tonometry and their relationship to pachymetry. Arch Ophthalmol 2005;123:1532-7.
86. Tonnu PA, Ho T, Newson T, et al. The influence of central corneal thickness and age on intraocular pressure measured by pneumotonometry, non-contact tonometry, the Tono-Pen XL, and Goldmann applanation tonometry. Br J Ophthalmol 2005;89:851-4.
87. Leske CM, Heijl A, Hyman L, et al. Predictors of long-term progression in the early manifest glaucoma trial. Ophthalmology 2007;114:1965-72.
88. Pakravan M, Parsa A, Sanagou M, et al. Central corneal thickness and correlation to optic disc size: a potential link for susceptibility to glaucoma. Br J Ophthalmol 2007;91:26-8.
89. Cankaya AB, Elgin U, Batman A, et al. Relationship between central corneal thickness and parameters of optic nerve head topography in healthy subjects. Eur J Ophthalmol 2008;18:32-8.
90. Lesk MR, Hafez AS, Descovich D. Relationship between central corneal thickness and changes of optic nerve head topography and blood flow after intraocular pressure reduction in open-angle glaucoma and ocular hypertension. Arch Ophthalmol 2006;124:1568-72.
91. Nicolela MT, Soares AS, Carrillo MM, et al. Effect of moderate intraocular pressure changes on topographic measurements with confocal scanning laser tomography in patients with glaucoma. Arch Ophthalmol 2006;124:633-40.
92. Wells AP, Garway-Heath DF, Poostchi A, et al. Corneal hysteresis but not corneal thickness correlates with optic nerve surface compliance in glaucoma patients. Invest Ophthalmol Vis Sci 2008;49:3262-8.
93. Jonas JB, Holbach L. Central corneal thickness and thickness of the lamina cribrosa in human eyes. Invest Ophthalmol Vis Sci 2005;46:1275-9.
94. Wyatt D, Taheri S, Triana M, et al. Distribution of DNA sequence variants in COL8A1 and COL8A2 in glaucoma patients with thin CCT [ARVO abstract]. Invest Ophthalmol Vis Sci 2009;50:E-Abstract 2826.
95. Johansson A, Marroni F, Hayward C, et al. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet 2009;18:373-80.
96. Lei SF, Yang TL, Tan LJ, et al. Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Hum Genet 2009;125:1-9.
97. Thorleifsson G, Walters GB, Gudbjartsson DF, et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet 2009;41:18-24.
98. Willer CJ, Speliotes EK, Loos RJ, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet 2009;41:25-34.
99. Richards JB, Rivadeneira F, Inouye M, et al. Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet 2008;371:1505-12.
100. Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, et al. Multiple genetic loci for bone mineral density and fractures. N Engl J Med 2008;358:2355-65.
101. Aulchenko YS, Ripatti S, Lindqvist I, et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet 2009;41:47-55.