Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: A review

Clinical and Experimental Ophthalmology

Volumn 42, Issue 1, 2014, Pages 4-12

  Vincent, Andrea L ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

Corneal dystrophy; Genetic disease; Genetics; Molecular genetics

Indexed keywords

TRANSCRIPTION FACTOR ZEB1; TRANSFORMING GROWTH FACTOR BETA;

CENTRAL CORNEAL THICKNESS; COL8A2 GENE; COLLAGEN TYPE 4 ALPHA3 GENE; COLLAGEN TYPE 8 ALPHA2 GENE; CONGENITAL CORNEA DYSTROPHY; CORNEA DYSTROPHY; CORNEA EROSION; DISEASE CLASSIFICATION; ENVIRONMENTAL FACTOR; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENETICS; HUMAN; INTERNATIONAL RELATIONS; KERATOMILEUSIS; LIPOXYGENASE HOMOLOGY DOMAINS 1 GENE; PATHOPHYSIOLOGY; PHENOTYPE; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; QUANTITATIVE TRAIT; RECURRENT DISEASE; REVIEW; SLC4A11 GENE; TRANSFORMING GROWTH FACTOR BETA GENE; VISUAL SYSTEM HOMEOBOX 1 GENE; VSX1 GENE; ZEB1 GENE;

CORNEAL DYSTROPHY; GENETIC DISEASE; GENETICS; MOLECULAR GENETICS;

CORNEAL DYSTROPHIES, HEREDITARY; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERNATIONAL CLASSIFICATION OF DISEASES; MOLECULAR BIOLOGY; TERMINOLOGY AS TOPIC;

EID: 84892516954     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/ceo.12149     Document Type: Review

References (73)

1. Weiss JS, Moller HU, Lisch W etal. The IC3D classification of the corneal dystrophies. Cornea 2008; 27 (Suppl. 2): S1-83.
2. Stone EM, Mathers WD, Rosenwasser GO. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet 1994; 6: 47-51.
3. Munier FL, Frueh BE, Othenin-Girard P etal. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002; 43: 949-954.
4. Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. Mol Vis 2008; 14: 1503-1512.
5. Kuchle M, Green WR, Volcker HE, Barraquer J. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea 1995; 14: 333-354.
6. Yee RW, Sullivan LS, Lai HT etal. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. Genomics 1997; 46: 152-154.
7. Heon E, Greenberg A, Kopp KK etal. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet 2002; 11: 1029-1036.
8. Heon E, Mathers WD, Alward WL etal. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995; 4: 485-488.
9. Gwilliam R, Liskova P, Filipec M etal. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 2005; 46: 4480-4484.
10. Aldave AJ, Yellore VS, Vo RC etal. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea 2009; 28: 801-807.
11. Lai IN, Yellore VS, Rayner SA, D'Silva NC, Nguyen CK, Aldave AJ. The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. Mol Vis 2011; 16: 2829-2838.
12. Liskova P, Gwilliam R, Filipec M etal. High prevalence of posterior polymorphous corneal dystrophy in the czech republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS ONE 2012; 7: e45495.
13. Vincent AL, Markie DM, De Karolyi B etal. Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy. Mol Vis 2009; 15: 1700-1708.
14. Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL. Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. Cornea 2011; 30: 1163-1166.
15. Aldave AJ, Rayner SA, Kim BT, Prechanond A, Yellore VS. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis 2006; 12: 142-146.
16. Afshari NA, Bahadur RP, Eifrig DE, Jr, Thogersen IB, Enghild JJ, Klintworth GK. Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. Mol Vis 2008; 14: 495-499.
17. Chau HM, Ha NT, Cung LX etal. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. Br J Ophthalmol 2003; 87: 686-689.
18. Tanhehco TY, Eifrig DE, Jr, Schwab IR, Rapuano CJ, Klintworth GK. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol 2006; 124: 589-593.
19. Zhao XC, Nakamura H, Subramanyam S etal. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. Ophthalmology 2007; 114: e39-46.
20. Hilton EN, Black GC, Manson FD, Schorderet DF, Munier FL. De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. Br J Ophthalmol 2007; 91: 1083-1084.
21. Krafchak CM, Pawar H, Moroi SE etal. 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.
22. Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. 2013; (in press).
23. Biswas S, Munier FL, Yardley J etal. 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.
24. Sundin OH, Jun AS, Broman KW etal. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13. Invest Ophthalmol Vis Sci 2006; 47: 140-145.
25. Riazuddin SA, Eghrari AO, Al-Saif A etal. 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.
26. Aldave AJ, Yellore VS, Yu F etal. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 2007; 143A: 2549-2556.
27. Liskova P, Tuft SJ, Gwilliam R etal. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 2007; 28: 638. (doi: 10.1002/humu.9495)
28. 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.
29. John GR. Videokeratographic abnormalities in a family with posterior polymorphous dystrophy. Cornea 1998; 17: 380-383.
30. Raber IM, Fintelmann R, Chhabra S, Ribeiro MP, Eagle RC, Jr, Orlin SE. Posterior polymorphous dystrophy associated with nonkeratoconic steep corneal curvatures. Cornea 2011; 30: 1120-1124.
31. Aldave AJ, Rosenwasser GO, Yellore VS etal. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci 2010; 51: 4006-4012.
32. Vithana EN, Morgan PE, Ramprasad V etal. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet 2008; 17: 656-666.
33. Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology 2004; 111: 828-836.
34. Kobayashi A, Fujiki K, Murakami A etal. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol 2004; 48: 195-198.
35. Mehta JS, Vithana EN, Tan DT etal. 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.
36. Riazuddin SA, Zaghloul NA, Al-Saif A etal. 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.
37. Muszynska D, Lechner J, Dash DP, Heon E, Hughes AE, Willoughby CE. Identification and characterisation of a novel missense homeodomain mutation in ZEB1 resulting in keratoconus ARVO Meeting Abstracts 2011; 52: 149.
38. Vincent AL, Jordan C, Sheck LH, Niederer RL, Patel D, McGhee CN. Screening VSX1 in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant. Mol Vis 2013; 19: 852-860.
39. Jun RM, Tchah H, Kim TI etal. Avellino corneal dystrophy after LASIK. Ophthalmology 2004; 111: 463-468.
40. Yellore VS, Rayner SA, Nguyen CK etal. Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci 2012; 53: 273-278.
41. Dong C, Li WD, Geller F etal. Possible genomic imprinting of three human obesity-related genetic loci. Am J Hum Genet 2005; 76: 427-437.
42. Hager J, Dina C, Francke S etal. A genome-wide scan for human obesity genes reveals a major susceptibility locus on chromosome 10. Nat Genet 1998; 20: 304-308.
43. Hinney A, Ziegler A, Oeffner F etal. Independent confirmation of a major locus for obesity on chromosome 10. J Clin Endocrinol Metab 2000; 85: 2962-2965.
44. Price RA, Li WD, Bernstein A etal. A locus affecting obesity in human chromosome region 10p12. Diabetologia 2001; 44: 363-366.
45. Saykally JN, Dogan S, Cleary MP, Sanders MM. The ZEB1 transcription factor is a novel repressor of adiposity in female mice. PLoS ONE 2009; 4: e8460.
46. Hejtmancik JF, Jiao X, Li A etal. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet 2008; 82: 174-180.
47. Baratz KH, Tosakulwong N, Ryu E etal. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 2010; 363: 1016-1024.
48. Li YJ, Minear MA, Rimmler J etal. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. PLoS ONE 2011; 6: e18044.
49. 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.
50. Wieben ED, Aleff RA, Tosakulwong N etal. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS ONE 2012; 7: e49083.
51. Igo RP, Jr, Kopplin LJ, Joseph P etal. Differing roles for TCF4 and COL8A2 in central corneal thickness and Fuchs endothelial corneal dystrophy. PLoS ONE 2012; 7: e46742.
52. Kuot A, Hewitt AW, Griggs K etal. 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.
53. Riazuddin SA, Vithana EN, Seet LF etal. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Hum Mutat 2010; 31: 1261-1268.
54. Vithana EN, Morgan P, Sundaresan P etal. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006; 38: 755-757.
55. Kelliher C, Chakravarti S, Vij N etal. A cellular model for the investigation of Fuchs' endothelial corneal dystrophy. Exp Eye Res 2011; 93: 880-888.
56. Vilas GL, Morgan PE, Loganathan SK, Quon A, Casey JR. A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies. Biochemistry 2011; 50: 2157-2169.
57. Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. Hum Mutat 2012; 33: 419-428.
58. Riazuddin SA, Parker DS, McGlumphy EJ etal. Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. Am J Hum Genet 2012; 90: 533-539.
59. Stehouwer M, Bijlsma WR, Van der Lelij A. Hearing disability in patients with Fuchs' endothelial corneal dystrophy: unrecognized co-pathology? Clin Ophthalmol 2011; 5: 1297-1301.
60. Desir J, Moya G, Reish O etal. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet 2007; 44: 322-326.
61. Groger N, Frohlich H, Maier H etal. SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. J Biol Chem 2010; 285: 14467-14474.
62. Franceschetti A. Hereditaere rezidivierende Erosion der Hornhaut. Z Augenheilk 1928; 66: 309-316.
63. Lisch W, Bron AJ, Munier FL etal. Franceschetti hereditary recurrent corneal erosion. Am J Ophthalmol 2012; 153: 1073-1814.
64. Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. Acta Ophthalmol 2008; 86: 758-763.
65. Hammar B, Bjorck E, Lind H, Lagerstedt K, Dellby A, Fagerholm P. Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis. Acta Ophthalmol 2009; 87: 659-665.
66. Lu Y, Dimasi DP, Hysi PG etal. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet 2010; 6: e1000947.
67. Vitart V, Bencic G, Hayward C etal. New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Hum Mol Genet 2010; 19: 4304-4311.
68. Vithana EN, Aung T, Khor CC etal. Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 2011; 20: 649-658.
69. Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008; 82: 1217-1222.
70. Lu Y, Vitart V, Burdon KP etal. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet 2013; 45: 155-163.
71. Vincent AL, Jordan C, Hay B, Richards AJ, McGhee CN. Mutations in the zinc finger protein gene, ZNF469 contribute to the pathogenesis of keratoconus. ARVO Meeting Abstracts June 16 2013; 54: 4069.
72. Burdon KP, Vincent AL. Insights into keratoconus from a genetic perspective. Clin Exp Optom 2013; 96: 146-154.
73. Allen EH, Atkinson SD, Liao H etal. Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. Invest Ophthalmol Vis Sci 2012; 54: 494-502.