REFERENCES
- Iwamoto T, DeVoe AG. Electron microscopic studies on Fuchs’ combined dystrophy. II. Anterior portion of the cornea. Invest Ophthalmol 1971;10:29–40.
- Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci 2005;46:4504–4511.
- Wilson SE, Bourne WM, O’Brien PC, Brubaker RF. Endothelial function and aqueous humor flow rate in patients with Fuchs’ dystrophy. Am J Ophthalmol 1988;106:270–278.
- Bigar F. Specular microscopy of the corneal endothelium. Optical solutions and clinical results. Dev Ophthalmol 1982;6:1–94.
- Lorenzetti DW, Uotila MH, Parikh N, Kaufman HE. Central cornea guttata. Incidence in the general population. Am J Ophthalmol 1967;64:1155–1158.
- Keenan TD, Jones MN, Rushton S, et al. Trends in the indications for corneal graft surgery in the United Kingdom: 1999 through 2009. Arch Ophthalmol 2012;130:621–628.
- Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 2001;10:2415–2423.
- Sundin OH, Jun AS, Broman KW, et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci 2006;47:140–145.
- Sundin OH, Broman KW, Chang HH, Vito EC, Stark WJ, Gottsch JD. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci 2006;47:3919–3926.
- Riazuddin SA, Eghrari AO, Al-Saif A, et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2. Invest Ophthalmol Vis Sci 2009;50:5667–5671.
- Riazuddin SA, Zaghloul NA, Al-Saif A, et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet 2010;86:45–53.
- Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006;38:755–757.
- Vithana EN, Morgan PE, Ramprasad V, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008;17:656–666.
- Riazuddin SA, Vithana EN, Seet LF, et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya. Hum Mutat 2010;31:1261–1268.
- Liskova P, Tuft SJ, Gwilliam R, et al. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 2007;28:638.
- Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs’s corneal dystrophy. N Engl J Med 2010;363:1016–24.
- Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. Invest Ophthalmol Vis Sci 2011;52:2825–2829.
- Kuot A, Hewitt AW, Griggs K, et al. Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. Eur J Hum Genet 2012;20:632–638.
- Thalamuthu A, Khor CC, Venkataraman D, et al. Association of TCF4 gene polymorphisms with Fuchs’ corneal dystrophy in the Chinese. Invest Ophthalmol Vis Sci 2011;52:5573–5578.
- Murre C, Bain G, van Dijk MA, et al. Structure and function of helix-loop-helix proteins. Biochim Biophys Acta 1994;1218:129–135.
- Wright AF, Dhillon B. Major progress in Fuchs’s corneal dystrophy. N Engl J Med 2010;363:1072–1075.
- Krachmer JH, Purcell JJ Jr., Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 1978;96:2036–2039.
- Buffone GJ, Darlinton GJ. Isolation of DNA from biological specimens without extraction with phenol. Clin Chem 1985;31:164–165.
- 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.