Genetics of the corneal endothelial dystrophies: An evidence-based review

Clinical Genetics

Volumn 84, Issue 2, 2013, Pages 109-119

  Aldave, A J ^a   Han, J ^a   Frausto, R F ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, Fuchs endothelial, 2; Corneal dystrophy, Fuchs endothelial, early onset; Corneal dystrophy, Fuchs endothelial, late onset; Corneal dystrophy, posterior polymorphous, 1; Corneal dystrophy, posterior polymorphous, 2; Corneal dystrophy, posterior polymorphous, 3; Corneal endothelial dystrophy 1; Corneal endothelial dystrophy 2

Indexed keywords

COL8A2 GENE; CONGENITAL CORNEA DYSTROPHY; CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY; CORNEA DYSTROPHY; CORNEAL ENDOTHELIAL DYSTROPHY; EVIDENCE BASED MEDICINE; GENE; GENE MUTATION; GENETICS; HUMAN; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL; REVIEW; SLC4A11 GENE; X LINKED ENDOTHELIAL CORNEAL DYSTROPHY; ZEB1 GENE;

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, EARLY ONSET; CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE ONSET; CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; CORNEAL ENDOTHELIAL DYSTROPHY 1; CORNEAL ENDOTHELIAL DYSTROPHY 2;

CORNEAL DYSTROPHIES, HEREDITARY; EVIDENCE-BASED MEDICINE; HUMANS;

EID: 84880176553     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12191     Document Type: Review

References (78)

1. Dorrepaal SJ, Cao KY, Slomovic AR. Indications for penetrating keratoplasty in a tertiary referral centre in Canada, 1996-2004. Can J Ophthalmol 2007: 42: 244-250.
2. Ghosheh FR, Cremona FA, Rapuano CJ et al. Trends in penetrating keratoplasty in the United States 1980-2005. Int Ophthalmol 2008: 28: 147-153.
3. Eye Bank Association of America. 2012 Eye Banking Statistical Report.
4. Baratz KH, Tosakulwong N, Ryu E et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 2010: 363: 1016-1024.
5. Heon E, Mathers WD, Alward WL et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995: 4: 485-488.
6. Krachmer JH. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc 1985: 83: 413-475.
7. Schmid E, Lisch W, Philipp W et al. A new, X-linked endothelial corneal dystrophy. Am J Ophthalmol 2006: 141: 478-487.
8. Weiss JS, Moller HU, Lisch W et al. The IC3D classification of the corneal dystrophies. Cornea 2008: 27 (Suppl. 2): S1-S83.
9. Vithana EN, Morgan PE, Ramprasad V et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008: 17: 656-666.
10. Riazuddin SA, Vithana EN, Seet LF et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat 2010: 31: 1261-1268.
11. Mehta JS, Vithana EN, Tan DT et al. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. Invest Ophthalmol Vis Sci 2008: 49: 184-188.
12. 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.
13. 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.
14. Aldave AJ, Yellore VS, Yu F et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 2007: 143A: 2549-2556.
15. 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: 694-708.
16. 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.
17. Nguyen DQ, Hosseini M, Billingsley G, Heon E, Churchill AJ. Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. Acta Ophthalmol 2010: 88: 695-699.
18. Vincent AL, Niederer RL, Richards A, Karolyi B, Patel DV, McGhee CN. Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population. Mol Vis 2009: 15: 2544-2553.
19. Gwilliam R, Liskova P, Filipec M et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 2005: 46: 4480-4484.
20. Yellore VS, Papp JC, Sobel E et al. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med 2007: 9: 228-234.
21. Shen AL, O'Leary KA, Dubielzig RR et al. The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. PLoS One 2010: 5: e12213.
22. Kobayashi A, Fujiki K, Murakami A et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol 2004: 48: 195-198.
23. Yellore VS, Rayner SA, Emmert-Buck L et al. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci 2005: 46: 1599-1603.
24. 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: 773-787.
25. Lee JG, Kay EP. NF-kappaB is the transcription factor for FGF-2 that causes endothelial mesenchymal transformation in cornea. Invest Ophthalmol Vis Sci 2012: 53: 1530-1538.
26. Liu Y, El-Naggar S, Darling DS, Higashi Y, Dean DC. Zeb1 links epithelial-mesenchymal transition and cellular senescence. Development 2008: 135: 579-588.
27. Kabosova A, Azar DT, Bannikov GA et al. Compositional differences between infant and adult human corneal basement membranes. Invest Ophthalmol Vis Sci 2007: 48: 4989-4999.
28. Yellore VS, Rayner SA, Nguyen CK et al. Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci 2012: 53: 273-278.
29. Judisch GF, Maumenee IH. Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy. Am J Ophthalmol 1978: 85: 606-612.
30. Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1960: 50: 1114-1124.
31. Odland M. Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination. Acta Ophthalmol (Copenh) 1968: 46: 477-485.
32. Pearce WG, Tripathi RC, Morgan G. Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study. Br J Ophthalmol 1969: 53: 577-591.
33. Kirkness CM, McCartney A, Rice NS, Garner A, Steele AD. Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology. Br J Ophthalmol 1987: 71: 130-144.
34. Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet 1995: 4: 2395-2398.
35. Kanai A, Kaufman HE. Further electron microscopic study of hereditary corneal edema. Invest Ophthalmol 1971: 10: 545-554.
36. Kanai A, Waltman S, Polack FM, Kaufman HE. Electron microscopic study of hereditary corneal edema. Invest Ophthalmol 1971: 10: 89-99.
37. Levenson JE, Chandler JW, Kaufman HE. Affected asymptomatic relatives in congenital hereditary endothelial dystrophy. Am J Ophthalmol 1973: 76: 967-971.
38. Boruchoff SA, Kuwabara T. Electron microscopy of posterior polymorphous degeneration. Am J Ophthalmol 1971: 72: 879-887.
39. Cibis GW, Krachmer JA, Phelps CD, Weingeist TA. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol 1977: 95: 1529-1537.
40. Levy SG, Moss J, Noble BA, McCartney AC. Early-onset posterior polymorphous dystrophy. Arch Ophthalmol 1996: 114: 1265-1268.
41. Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. Br J Ophthalmol 1999: 83: 115-119.
42. Kanis AB, Al-Rajhi AA, Taylor CM et al. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genet 1999: 20: 243-249.
43. Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. Genomics 1999: 61: 1-4.
44. Jiao X, Sultana A, Garg P et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet 2007: 44: 64-68.
45. 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.
46. Mohamed MD, McKibbin M, Jafri H, Rasheed Y, Woods CG, Inglehearn CF. A new pedigree with recessive mapping to CHED2 locus on 20p13. Br J Ophthalmol 2001: 85: 758-759.
47. Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs' dystrophy. Am J Ophthalmol 1980: 90: 455-462.
48. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol 1978: 96: 2036-2039.
49. Cross HE, Maumenee AE, Cantolino SJ. Inheritance of Fuchs' endothelial dystrophy. Arch Ophthalmol 1971: 85: 268-272.
50. Meadows DN, Eghrari AO, Riazuddin SA, Emmert DG, Katsanis N, Gottsch JD. Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus. Invest Ophthalmol Vis Sci 2009: 50: 5662-5666.
51. 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.
52. 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.
53. 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.
54. Kapoor R, Sakai LY, Funk S, Roux E, Bornstein P, Sage EH. Type VIII collagen has a restricted distribution in specialized extracellular matrices. J Cell Biol 1988: 107: 721-730.
55. Aldave AJ, Rayner SA, Salem AK et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci 2006: 47: 3787-3790.
56. Mok JW, Kim HS, Joo CK. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. Eye (Lond) 2009: 23: 895-903.
57. 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: e18044.
58. 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: 1934-1939.
59. Sony P, Sharma N, Sen S, Vajpayee RB. Indications of penetrating keratoplasty in northern India. Cornea 2005: 24: 989-991.
60. Dandona L, Ragu K, Janarthanan M, Naduvilath TJ, Shenoy R, Rao GN. Indications for penetrating keratoplasty in India. Indian J Ophthalmol 1997: 45: 163-168.
61. Al-Towerki AE, Gonnah el S, Al-Rajhi A, Wagoner MD. Changing indications for corneal transplantation at the King Khaled Eye Specialist Hospital (1983-2002). Cornea 2004: 23: 584-588.
62. al Faran MF, Tabbara KF. Corneal dystrophies among patients undergoing keratoplasty in Saudi Arabia. Cornea 1991: 10: 13-16.
63. Murre C, Bain G, van Dijk MA et al. Structure and function of helix-loop-helix proteins. Biochim Biophys Acta 1994: 1218: 129-135.
64. 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.
65. Igo RP Jr, Kopplin LJ, Joseph P et al. Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. PLoS One 2012: 7: e46742.
66. 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.
67. 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: e49083.
68. Hosseini SM, Herd S, Vincent AL, Heon E. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis 2008: 14: 71-80.
69. Bakhtiari P, Frausto RF, Roldan AN, Wang C, Yu F, Aldave AJ. Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. Mol Vis 2013: 19: 575-580.
70. Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis 2007: 13: 1327-1332.
71. Hemadevi B, Veitia RA, Srinivasan M et al. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. Arch Ophthalmol 2008: 126: 700-708.
72. Desir J, Moya G, Reish O et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet 2007: 44: 322-326.
73. Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci 2009: 50: 4142-4145.
74. Aldave AJ, Yellore VS, Bourla N et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea 2007: 26: 896-900.
75. Ramprasad VL, Ebenezer ND, Aung T et al. Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. Hum Mutat 2007: 28: 522-523.
76. Shah SS, Al-Rajhi A, Brandt JD et al. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet 2008: 29: 41-45.
77. Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. Mol Vis 2007: 13: 39-46.
78. Paliwal P, Sharma A, Tandon R et al. Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. Mol Vis 2010: 16: 2955-2963.