Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening

JAMA Ophthalmology

Volumn 131, Issue 12, 2013, Pages 1583-1590

  Aldave, Anthony J ^a   Ann, Lydia B ^a   Frausto, Ricardo F ^a   Nguyen, Catherine K ^a   Yu, Fei ^a   Raber, Irving M ^b  

^a JULES STEIN EYE INSTITUTE   (United States)

^b WILLS EYE HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA CELL; CORNEA CURVATURE; CORNEA DYSTROPHY; CORNEA STROMA; DNA ISOLATION; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; NUCLEOTIDE SEQUENCE; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL; SCHOOL CHILD; SLIT LAMP; YOUNG ADULT; ZEB1 GENE;

ADOLESCENT; ADULT; AGED; ANTIGENS, CD34; CHILD; CODON, NONSENSE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL KERATOCYTES; CORNEAL TOPOGRAPHY; DILATATION, PATHOLOGIC; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84891588317     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.5036     Document Type: Article

References (59)

1. 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 (21):2549-2556.
2. 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.
3. Teekhasaenee C, Nimmanit S,Wutthiphan S, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology. 1991;98 (8):1207-1215.
4. 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.
5. Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis. 2008;3:28.
6. 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 (5):322-326.
7. Bechara SJ, Grossniklaus HE,Waring GO III,Wells JA III. Keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1991;112 (6):729-731.
8. Blair SD, Seabrooks D, ShieldsWJ, Pillai S, Cavanagh HD. Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea. 1992;11 (3):255-261.
9. Cibis GW, Krachmer JA, Phelps CD,Weingeist TA. The clinical spectrum of posterior polymorphous dystrophy. Arch Ophthalmol. 1977;95 (9):1529-1537.
10. Cremona FA, Ghosheh FR, Rapuano CJ, et al. Keratoconus associated with other corneal dystrophies. Cornea. 2009;28 (2):127-135.
11. Driver PJ, Reed JW, Davis RM. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1994;118 (2):256-257.
12. Gasset AR, Zimmerman TJ. Posterior polymorphous dystrophy associated with keratoconus. Am J Ophthalmol. 1974;78 (3):535-537.
13. John GR. Videokeratographic abnormalities in a family with posterior polymorphous dystrophy. Cornea. 1998;17 (4):380-383.
14. Lam HY,Wiggs JL, Jurkunas UV. Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus. Cornea. 2010;29 (10):1180-1185.
15. Mazzotta C, Baiocchi S, Caporossi O, et al. Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy. J Cataract Refract Surg. 2008;34 (2):318-321.
16. 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 (10):1120-1124.
17. Wagoner MD, Teichmann KD. Terrien's marginal degeneration associated with posterior polymorphous dystrophy. Cornea. 1999;18 (5):612-615.
18. Weissman BA, EhrlichM, Levenson JE, Pettit TH. Four cases of keratoconus and posterior polymorphous corneal dystrophy. OptomVis Sci. 1989;66 (4):243-246.
19. Zarei-Ghanavati S, Javadi MA, Yazdani S. Bilateral Terrien's marginal degeneration and posterior polymorphous dystrophy in a patient with rheumatoid arthritis. J Ophthalmic Vis Res. 2012;7 (1):60-63.
20. Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalmic Genet. 2010;31 (4):230-234.
21. Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998;42 (4):297-319.
22. Bisceglia L, CiaschettiM, De Bonis P, et al. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci. 2005;46 (1):39-45.
23. De Bonis P, Laborante A, Pizzicoli C, et al. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis. 2011;17:2482-2494.
24. Eran P, Almogit A, David Z, et al. The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation? Ophthalmic Genet. 2008;29 (2):53-59.
25. Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11 (9):1029- 1036.
26. 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.
27. Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet. 2008;53 (9): 842-849.
28. Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A. A novel VSX1 mutation identified in an individual with keratoconus in India. Mol Vis. 2009;15:2475-2479.
29. Paliwal P, Tandon R, Dube D, Kaur P, Sharma A. Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus. Mol Vis. 2011;17:481-485.
30. Saee-Rad S, Hashemi H, Miraftab M, et al. Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus. Mol Vis. 2011;17:3128-3136.
31. Aldave AJ, Yellore VS, Salem AK, et al. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci. 2006;47 (7):2820-2822.
32. 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.
33. Bogan SJ,Waring GO III, Ibrahim O, Drews C, Curtis L. Classification of normal corneal topography based on computer-assisted videokeratography. Arch Ophthalmol. 1990;108 (7):945-949.
34. Aldave AJ, Yellore VS, Principe AH, et al. Candidate gene screening for posterior polymorphous dystrophy. Cornea. 2005;24 (2):151-155.
35. 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 (12): 4480-4484.
36. Aldave AJ. VSX1 mutation and corneal dystrophies. Ophthalmology. 2005;112 (1):170-171; author reply 171-172.
37. Abu-Amero KK, Kalantan H, Al-Muammar AM. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol Vis. 2011;17:667-672.
38. Dash DP, George S, O'Prey D, et al. Mutational screening of VSX1 in keratoconus patients from the European population. Eye (Lond). 2010;24 (6):1085-1092.
39. GajeckaM, Radhakrishna U, Winters D, et al. Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32. Invest Ophthalmol Vis Sci. 2009;50 (4):1531-1539.
40. Jeoung JW, Kim MK, Park SS, et al. VSX1 gene and keratoconus: genetic analysis in Korean patients. Cornea. 2012;31 (7):746-750.
41. Liskova P, Ebenezer ND, Hysi PG, et al. Molecular analysis of the VSX1 gene in familial keratoconus. Mol Vis. 2007;13:1887-1891.
42. Stabuc-Silih M, StrazisarM, HawlinaM, Glavac D. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Cornea. 2010;29 (2):172-176.
43. Tang YG, Picornell Y, Su X, Li X, YangH, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea. 2008;27 (2):189-192.
44. TanwarM, Kumar M, Nayak B, et al. VSX1 gene analysis in keratoconus. Mol Vis. 2010;16:2395- 2401.
45. Bisceglia L, De Bonis P, Pizzicoli C, et al. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive loci. Invest Ophthalmol Vis Sci. 2009;50 (3):1081-1086.
46. Brancati F, Valente EM, Sarkozy A, et al. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet. 2004;41 (3):188-192.
47. Burdon KP, Coster DJ, Charlesworth JC, et al. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum Genet. 2008;124 (4):379-386.
48. Burdon KP, Macgregor S, Bykhovskaya Y, et al. Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. Invest Ophthalmol Vis Sci. 2011;52 (11):8514-8519.
49. Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci. 2003;44 (12):5063-5066.
50. Hutchings H, Ginisty H, Le Gallo M, et al. Identification of a new locus for isolated familial keratoconus at 2p24. J Med Genet. 2005;42 (1):88-94.
51. Li X, Bykhovskaya Y, Haritunians T, et al. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum Mol Genet. 2012;21 (2):421-429.
52. Li X, Rabinowitz YS, Tang YG, et al. Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci. 2006;47 (9):3791-3795.
53. Liskova P, Hysi PG,Waseem N, Ebenezer ND, Bhattacharya SS, Tuft SJ. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. Arch Ophthalmol. 2010;128 (9):1191-1195.
54. Tang YG, Rabinowitz YS, Taylor KD, et al. Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. Genet Med. 2005;7 (6):397-405.
55. Tyynismaa H, Sistonen P, Tuupanen S, et al. A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. Invest Ophthalmol Vis Sci. 2002;43 (10):3160-3164.
56. 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 (1):273-278.
57. Liu Y, Peng X, Tan J, Darling DS, Kaplan HJ, Dean DC. Zeb1 mutant mice as a model of posterior corneal dystrophy. Invest Ophthalmol Vis Sci. 2008;49 (5):1843-1849.
58. Han S, Chen P, Fan Q, et al. Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. Hum Mol Genet. 2011;20 (18):3693-3698.
59. Mishra A, Yazar S, Hewitt AW, et al. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012;53 (11):7131-7136.