Fuchs Endothelial Cornea Dystrophy: A Review of the Genetics Behind Disease Development

References

• Warburg M, Møller HU. Dystrophy: A revised definition. J Med Genet. 1989;26(12):769–771
   PubMedGoogle Scholar
• Weiss JS, Møller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27(Suppl 2):S1–S83
   PubMed Web of Science ®Google Scholar
• Møller HU, Weiss JS. IC3D classification of corneal dystrophies. Dev Ophthalmol. 2011;48:1–8
   PubMedGoogle Scholar
• Fuchs, E. Dystrophia epihelialis corneae. Graefes Arch Clin Exp Ophthalmol. 1910;76(3):478–508
   Google Scholar
• Friedenwald H, Friedenwald JS. Epithelial dystrophy of the cornea. Br J Ophthalmol. 1925;9(1):14–20
   PubMedGoogle Scholar
• Vogt, A. Weiere Ergebnisse der Spaltlampenmikroskopie des vordern Bulbusabschnittes. Arch Ophthalmol. 1921;106(1--2):63–113
   Google Scholar
• Lietman T, Lee J, Costanza S. Those excrescences on Descemet's membrane. Br J Ophthalmol. 2003;87(4):515–515
   PubMedGoogle Scholar
• Waring GO 3rd, Bourne WM, Edelhauser HF, Kenyon KR. The corneal endothelium: Normal and pathologic structure and function. Ophthalmology. 1982;89(6):531–590
   PubMedGoogle Scholar
• Wilson SE, Bourne WM. Fuchs' dystrophy. Cornea. 1988;7(1):2–18
   PubMedGoogle Scholar
• Schmedt T, Silva MM, Ziaei A, Jurkunas U. Molecular bases of corneal endothelial dystrophies. Exp Eye Res. 2012;95(1):24–34
   PubMedGoogle Scholar
• Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis. 2009;4:7
   PubMedGoogle Scholar
• Eghrari AO, Gottsch JD. Fuchs' corneal dystrophy. Expert Rev Ophthalmol. 2010;5(2):147–159
   PubMedGoogle Scholar
• Elhalis H, Azizi B, Jurkunas UV. Fuchs endothelial corneal dystrophy. Ocul Surf. 2010;8(4):173–184
   PubMedGoogle Scholar
• Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD. Corneal endothelial dystrophy: A study of 64 families. Arch Ophthalmol. 1978;96(11):2036–2039
   PubMedGoogle Scholar
• Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113(4):565–569
   PubMed Web of Science ®Google Scholar
• Higa A, Sakai H, Sawaguchi S, et al. Prevalence of and risk factors for cornea guttata in a population-based study in a southwestern island of Japan: the Kumejima study. Arch Ophthalmol. 2011;129(3):332–336
   PubMedGoogle Scholar
• Dobbins KR, Price FW Jr, Whitson WE. Trends in the indications for penetrating keratoplasty in the midwestern United States. Cornea. 2000;19(6):813–816
   PubMed Web of Science ®Google Scholar
• Darlington JK, Adrean SD, Schwab IR. Trends of penetrating keratoplasty in the United States from 1980 to 2004. Ophthalmology. 2006;113(12):2171–2175
   PubMed Web of Science ®Google Scholar
• Magovern M, Beauchamp GR, McTigue JW, et al. Inheritance of Fuchs' combined dystrophy. Ophthalmology. 1979;86(10):1897–1923
   PubMedGoogle Scholar
• Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46(6):1934–1939
   PubMedGoogle Scholar
• Zhang C, Bell WR, Sundin OH, et al. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation. Trans Am Ophthalmol Soc. 2006;104:85–97
   PubMedGoogle Scholar
• Rosenblum P, Stark WJ, Maumenee IH, et al. Hereditary Fuchs' Dystrophy. Am J Ophthalmol. 1980;90(4):455–462
   PubMedGoogle Scholar
• 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(21):2415–2423
   PubMed Web of Science ®Google Scholar
• Shuttleworth CA. Type VIII collagen. Int J Biochem Cell Biol. 1997;29(10):1145–1148
   PubMedGoogle Scholar
• Stephan S, Sherratt MJ, Hodson N, et al. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers. J Biol Chem. 2004;279(20):21469–21477
   PubMedGoogle Scholar
• Jun AS, Meng H, Ramanan N, et al. An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Hum Mol Genet. 2012;21(2):384–393
   PubMedGoogle Scholar
• 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. 2006a;47(1):140–145
   PubMedGoogle Scholar
• Sundin OH, Broman KW, Chang HH, et al. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2-q21.32. Invest Ophthalmol Vis Sci. 2006b;47(9):3919–3926
   PubMedGoogle Scholar
• 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(12):5667–5671
   PubMedGoogle Scholar
• 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(1):45–53
   PubMedGoogle Scholar
• Sobrado VR, Moreno-Bueno G, Cubillo E, et al. The class I bHLH factors E2-2A and E2-2B regulate EMT. J Cell Sci. 2009;122(Pt 7):1014–1024
   PubMedGoogle Scholar
• Aldave AJ, Yellore VS, Principe AH, et al. Candidate gene screening for posterior polymorphous dystrophy. Cornea. 2005;24(2):151–155
   PubMedGoogle Scholar
• Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005;77(5):694–708
   PubMed Web of Science ®Google Scholar
• Vandewalle C, Van Roy F, Berx G. The role of the ZEB family of transcription factors in development and disease. Cell Mol Life Sci. 2009;66(5):773–787
   PubMed Web of Science ®Google Scholar
• Jan YN, Jan LY. HLH proteins, fly neurogenesis, and vertebrate myogenesis. Cell. 1993;75(5):827–830
   PubMedGoogle Scholar
• Higashi Y, Moribe H, Takagi T, et al. Impairment of T cell development in deltaEF1 mutant mice. J Exp Med. 1997;185(8):1467–1479
   PubMedGoogle Scholar
• Zhuang Y, Cheng P, Weintraub H. B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB. Mol Cell Biol. 1996;16(6):2898–2905
   PubMedGoogle Scholar
• Eger A, Aigner K, Sonderegger S, et al. DeltaEF1 is a transcriptional repressor of E-cadherin and regulates epithelial plasticity in breast cancer cells. Oncogene. 2005;24(14):2375–2385
   PubMed Web of Science ®Google Scholar
• Tanaka A, Itoh F, Nishiyama K, et al. Inhibition of endothelial cell activation by bHLH protein E2-2 and its impairment of angiogenesis. Blood. 2010;115(20):4138–4147
   PubMedGoogle Scholar
• Riazuddin SA, Parker DS, McGlumphy EJ, et al. Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Am J Hum Genet. 2012;90(3):533–539
   PubMedGoogle Scholar
• Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363(11):1016–1024
   PubMedGoogle Scholar
• Li YJ, Minear MA, Rimmler J, et al. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS One. 2011;6(4):e18044
   Google Scholar
• 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(6):632–638
   PubMedGoogle Scholar
• Wieben ED, Aleff RA, Tosakulwong N, et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS One. 2012;7(11):e49083
   PubMed Web of Science ®Google Scholar
• Breschel TS, McInnis MG, Margolis RL, et al. A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1. Hum Mol Genet. 1997;6(11):1855–1863
   PubMed Web of Science ®Google Scholar
• Murre C, Bain G, van Dijk MA, et al. Structure and function of helix-loop-helix proteins. Biochim Biophys Acta. 1994;1218(2):129–135
   PubMedGoogle Scholar
• Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci USA. 2007;104(39):15382–15387
   PubMedGoogle Scholar
• Cisse B, Caton ML, Lehner M, et al. Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell. 2008;135(1):37–48
   PubMed Web of Science ®Google Scholar
• Riazuddin SA, McGlumphy EJ, Yeo WS, et al. 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(5):2825–2829
   PubMedGoogle Scholar
• Riazuddin SA, McGlumphy EJ, Yeo WS, et al. 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(5):2825–2829
   PubMedGoogle Scholar
• Lee WB, Jacobs DS, Musch DC, et al. Descemet's stripping endothelial keratoplasty: Safety and outcomes: A report by the American Academy of Ophthalmology. Ophthalmology. 2009;116(9):1818–1830
   PubMed Web of Science ®Google Scholar