Meesmann corneal dystrophy associated with epithelial basement membrane and posterior polymorphous corneal dystrophies

Cornea

Volumn 27, Issue 3, 2008, Pages 374-377

  Cremona, Federico A ^a   Ghosheh, Faris R ^a   Laibson, Peter R ^a   Rapuano, Christopher J ^a   Cohen, Elisabeth J ^a  

^a WILLS EYE HOSPITAL   (United States)

Author keywords

Cornea; Dystrophy; Epithelial basement membrane; Epithelium; Keratin 12; Meesmann corneal dystrophy; Posterior polymorphous dystrophy

Indexed keywords

ARTIFICIAL TEAR; LUBRICATING AGENT;

ARMENIA; ARTICLE; BLEPHAROSPASM; CASE REPORT; CORNEA DYSTROPHY; CORNEA EPITHELIUM; CORNEA EROSION; DESCEMET MEMBRANE; ENDOTHELIUM; EPITHELIAL BASEMENT MEMBRANE DYSTROPHY; EYE EXAMINATION; HUMAN; MALE; MEESMANN CORNEAL DYSTROPHY; PAIN; PHOTOPHOBIA; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SLIT LAMP; VISUAL DISORDER;

CHILD; CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN; DESCEMET MEMBRANE; ENDOTHELIUM, CORNEAL; EPITHELIUM, CORNEAL; HUMANS; MALE;

EID: 41149084072     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e31815c18fa     Document Type: Article

References (31)

1. Burns RP. Meesmann's corneal dystrophy. Trans Am Ophthalmol Soc. 1968;66:530-535.
2. Nishida K, Honma Y, Dota A, et al. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997;61:1268-1275.
3. Nichini O, Manzi V, Munier FL, et al. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. Ophthalmic Genet. 2005;26:169-173.
4. Coleman CM, Hannush S, Covello SP, et al. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol. 1999;128:687-691.
5. Fine BS, Yanoff M, Pitts E, et al. Meesmann's epithelial dystrophy of the cornea. Am J Ophthalmol. 1977;83:633-642.
6. Waring GP III, Rodrigues MM, Laibson PR. Corneal dystrophies, I: dystrophies of the epithelium, Bowman's layer, and stroma. Surv Ophthalmol. 1978;23:71-122.
7. Laibson PR. Anterior corneal dystrophies. In: Krachmer JH, Mannis MJ, Holland EJ, eds. Cornea. Philadelphia: Elsevier Mosby; 2005:897-906.
8. Vincent AL, Rootman D, Munier FL, et al. A molecular perspective on corneal dystrophies. Dev Ophthalmol. 2003;37:50-66.
9. Irvine AD, Coleman CM, Moore JE, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Br J Ophthalmol. 2002;86:729-732.
10. Lin AN, Murphy F, Brodie SE, et al. Reviewof ophthalmic findings in 204 patients with epidermolysis bullosa. Am J Ophthalmol. 1994;118:384-390.
11. Corden LD, Swensson O, Swensson B, et al. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000;84:527-530.
12. Takahashi K, Takahashi K, Murakami A, et al. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol. 2002;46:673-674.
13. Yoon MK, Warren JF, Holsclaw DS, et al. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004;88:752-756.
14. Chen YT, Tseng SH, Chao SC. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005;24:928-932.
15. Kielar RA, Wallace GR. Nonfamilial anterior corneal dystrophy. Ann Ophthalmol. 1979;11:341-346.
16. Kuwabara T, Ciccarelli EC. Meesmann's corneal dystrophy. A pathological study. Arch Ophthalmol. 1964;71:672-682.
17. Laibson PR, Krachmer JH. Familial occurrence of dot (microcystic), map, fingerprint dystrophy of the cornea. Invest Ophthalmol. 1975;14:397-399.
18. Weisenthal RW, Streeten BW. Posterior membrane dystrophies. In: Krachmer JH, Mannis MJ, Holland EJ, eds. Cornea. Philadelphia: Elsevier Mosby; 2005:929-954.
19. 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.
20. 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.
21. Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11:1029-1036.
22. Burochoff SA, Kuwabara T. Electron microscopy of posterior polymorphous degeneration. Am J Ophthalmol. 1971;72:879-887.
23. Kornzweig AL. Epithelial dystrophy of the cornea associated with macular degeneration of the retina. J Pediatr Ophthalmol. 1964;1:51.
24. Bron AJ, Tripathi RC. Cystic disorders of the corneal epithelium. I. Clinical aspects. Br J Ophthalmol. 1973;57:361-375.
25. Tripathi RC, Bron AJ. Cystic disorders of the corneal epithelium. II. Pathogenesis. Br J Ophthalmol. 1973;57:376-390.
26. Fogle JA, Green WR, Kenyon KR. Anterior corneal dystrophy. Am J Ophthalmol. 1974;77:529-537.
27. Gruber M. [Information on the morphology of familial cornea degeneration]. Ophthalmologica. 1953;125:380-389.
28. Badr IA, Bassafar F, Jabak M, et al. Meesmann corneal epithelial dystrophy in a Saudi Arabian family. Am J Ophthalmol. 1998;125:182-186.
29. Shuttleworth CA. Type VIII collagen. Int J Biochem Cell Biol. 1997;29:1145-1148.
30. Valleix S, Nedelec B, Rigaudiere F, et al. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Invest Ophthalmol Vis Sci. 2006;47:48-54.
31. Sorsby A. Individual tissues. In: Butterworth & Co., ed. Ophthalmic Genetics. 2nd ed. St. Louis: Mosby; 1970:67-96.