Advances in the molecular genetics of corneal dystrophies

American Journal of Ophthalmology

Volumn 128, Issue 6, 1999, Pages 747-754

  Klintworth, Gordon K ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSIDASE; GELSOLIN; KERATIN; STERYL SULFATASE; TRANSFORMING GROWTH FACTOR BETA; TUMOR ANTIGEN;

CHROMOSOME MAP; CORNEA DYSTROPHY; DOWN SYNDROME; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; KERATOCONUS; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0033462204     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)00358-X     Document Type: Article

References (70)

1. Irvine A.D., Corden L.D., Swensson O., et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 16:1997;184-187.
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 dystrophy. Am J Hum Genet. 61:1997;1268-1275.
3. Klintworth G.K., Sommer J.R., Karolak L.A., Reed R.W. Identification of a new keratin K12 mutation associated with Stocker-Holt corneal dystrophy that differs from mutations found in Meesmann corneal dystrophy. [ARVO abstract no. 2973] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S563.
4. Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
5. Othenin-Girard P., Frueh-Epstein B., Gloor B., Black G.C., Schoderet D.F., Munier F.L. Identification of mutations in autosomal dominant corneal dystrophies linked to 5q31 (ADCD5). [ARVO abstract no. 1970] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S563.
6. Yamamoto S., Maeda N., Watanabe H., Inoue Y., Shimomura Y., Tano Y. The spectrum of βig-H,R gene mutations among patients with corneal dystrophy in Japan. [ARVO abstract no. 2971] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S563.
7. Fujiki K., Kato T., Hotta Y., et al. Seven different mutations detected in the BIGH3 (Kerato-epithelin) gene in Japanese corneal dystrophies. [ARVO abstract no. 1762] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S332.
8. Mousala M., Dighiero P., Drunat S., Ellies P., Legeais J.-M., Renard G. The mutational status of keratoepithelin in 26 French families with corneal dystrophies. [ARVO abstract no. 1760] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S332.
9. Okada M., Yamamoto S., Watanabe H., et al. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol. 126:1998;169-176.
10. Korvatska E., Munier F.L., Djemai A., et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 62:1998;320-324.
11. Konishi M., Mashima Y., Yamada M., Kudoh J., Shimizu N. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. Am J Ophthalmol. 126:1998;450-452.
12. Sommer J.R., Wong F., Klintworth G.K. Phenotypic variations of corneal dystrophies caused by different mutations in the βig-h3 gene. [ARVO abstract no. 2347] Invest Ophthalmol Vis Sci. 39:(suppl):1998;S513.
13. Fujiki K., Hotta Y., Nakayasu K., Kanai A. Homozygotic patient with βig-h3 gene mutation in granular dystrophy. Cornea. 17:1998;288-292.
14. Mashima Y., Imamura Y., Konishi M., et al. Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy. Am J Hum Genet. 61:1997;1448-1450.
15. Okada M., Yamamoto S., Inoue Y., et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci. 39:1998;1947-1953.
16. Mashima Y., Nakamura Y., Noda K., et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol. 117:1999;90-93.
17. Dighiero P., Valeix S., Ellies P., Pouliquen Y., Legeais J.-M., Renard G. The Arg124Leu mutation of keratoepithelin is responsible for the superficial variant of granular corneal dystrophy. [ARVO abstract no. 1763] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S332.
18. 124Cys mutation in the keratoepithelin gene. Am J Ophthalmol. 125:1998;547-549.
19. Meins M., Kohlhaas M., Richard G., Gal A. Gittrige Hornhautdystrophie Typ I. Klinische und moleculargenetische Untersuchung in eiener grossen Familie. Klin Monatsbl Augenheilkd. 212:1998;154-158.
20. Yamamoto S., Okada M., Tsujikawa M., et al. A kerato-epithelin (βig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 62:1998;719-722.
21. Kawasaki S., Nishida K., Quantock A.J., Dota A., Bennett K., Kinoshita S. Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. Am J Ophthalmol. 127:1999;456-458.
22. Stewart H., Black G.C., Donnai D., Bonshek R.E., McCarthy J., Morgan S., Dixon M.J., Ridgway A.A. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology. 106:1999;964-970.
23. Fujiki K., Hotta Y., Nakayasu K., et al. A new L527 mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 103:1998;286-289.
24. Okada M., Yamamoto S., Tsujikawa M., et al. Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. Am J Ophthalmol. 126:1998;535-542.
25. de la Chapelle A., Tolvanen R., Boysen G., et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 2:1992;157-160.
26. de la Chapelle A., Kere J., Sack G.H. Jr, Tolvanen R., Maury C.P. Familial amyloidosis, Finnish type G654-a mutation of the gelsolin gene in Finnish families and an unrelated American family . Genomics. 13:1992;898-901.
27. Steiner R.D., Paunio T., Uemichi T., Evans J.P., Benson M.D. Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). Hum Genet. 95:1995;327-330.
28. Hiltunen T., Kiuru S., Hongell V., Helio T., Palo J., Peltonen L. Finnish type of familial amyloidosis cosegregation of Asp187-Asn mutation of gelsolin with the disease in three large families . Am J Hum Genet. 49:1991;522-528.
29. Tsujikawa M., Kurahashi H., Tanaka T., et al. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet. 21:1999;420-423.
30. OMIM, online mendelian inheritance in man, . Center for Medical Genetics, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, 1999. URL: http://www.ncbi.nlm.nih.gov/omim/ MIM Number: 301500: last edited August 18, 1999.
31. Alperin E.S., Shapiro L.J. Characterization of point mutations in patients with X-linked ichthyosis effects on the structure and function of the steroid sulfatase protein . J Biol Chem. 272:1997;20756-20763.
32. Shearman A.M., Hudson T.J., Andresen J.M., et al. The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. Hum Mol Genet. 5:1996;1667-1672.
33. Yee R.W., Sullivan L.S., Lai H.T., et al. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. Genomics. 46:1997;152-154.
34. Vance J.M., Jonasson F., Lennon F., et al. Linkage of a gene for macular corneal dystrophy to chromosome 16. Am J Hum Genet. 58:1996;757-762.
35. Klintworth G.K., Oshima E., Al-Rajhi A., Al-Saif A., Thonar EJ-MA, Karcioglu Z.A. Macular corneal dystrophy in Saudi Arabia a study of 56 cases and recognition of new immunophenotype . Am J Ophthalmol. 124:1997;9-18.
36. Jonasson F., Oshima E., Thonar EJ-MA, Smith C.F., Johannsson J.H., Klintworth G.K. Macular corneal dystrophy in Iceland a clinical, genealogical and immunohistochemical study of twenty eight cases . Ophthalmology. 103:1996;1111-1117.
37. Liu N.P., Baldwin J., Lennon F., et al. Coexistence of macular corneal dystrophy types I and II in a single sibship. Br J Ophthalmol. 82:1998;241-244.
38. Toma N.M.G., Ebenezer N.D., Inglehearn C.F., Plant C., Ficker L.A., Bhattacharya S.S. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet. 4:1995;2395-2398.
39. Hand C.K., Harmon D.L., Kennedy S.M., FitzSimon J.S., Collum L.M.T., Parfrey N.A. Localization of the gene for autosomal recessive congenital hereditary dystrophy (CHED 2) to chromosome 20 by homozygosity mapping. Genomics. 61:1999;1-4.
40. Heon E., Mathers W.D., Alward W.L., et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 4:1995;485-488.
41. Rabinowitz Y.S., Zu L., Yang H., Wang J., Rotter J., Pulst S. Keratoconus non-parametric linkage analysis suggests a gene locus near the centromere of chromosome 21 . [ARVO abstract no. 2975] Invest Ophthalmol Vis Sci. 40:(suppl):1999;S564.
42. Hanson I.M., Churchill A., Love J., et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 8:1999;165-172.
43. Mirzayans F., Pearce W.G., MacDonald I.M., Walter M.A. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet. 57:1995;539-548.
44. McKusick, V. OMIM, online mendelian inheritance in man. Center for Medical Genetics, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, 1999. URL: http://www.ncbi.nlm.nih. gov/omim/.
45. Kuwabara T., Ciccarelli E.C. Meesmann's corneal dystrophy a pathological study . Arch Ophthalmol. 71:1964;676-682.
46. Stocker F.W., Holt L.B. A rare form of hereditary epithelial dystrophy of the cornea a genetic, clinical and pathologic study . Trans Am Ophthalmol Soc. 52:1954;133-144.
47. Skonier J., Bennett K., Rothwell V., et al. βig-h3 a transforming growth factor-β-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice . DNA Cell Biol. 13:1994;571-584.
48. Klintworth G.K., Valnickova Z., Enghild J.J. Accumulation of βig-h3 gene product in corneas with granular dystrophy. Am J Pathol. 152:1998;743-748.
49. Streeten B.W., Qi Y., Klintworth K., Eagle R.C. Jr, Strauss J.A., Bennett K. Immunolocalization of βigh-3 protein in the 5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol. 117:1999;67-75.
50. Weidel EG. Granular corneal dystrophy: two variants. In: Ferraz de Oliveira FN, editor. Ophthalmology today. Proceedings of the Eighth Congress of the European Society of Ophthalmology, Excerpta Medica, Amsterdam (International Congress Series No. 803), pp. 617-619.
51. Folberg R., Alfonso E., Croxatto J.O., et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits a study of three families . Ophthalmology. 95:1988;46-51.
52. Reis W. Familiäre, fleckige Hornhautetartung. Dtsch Med Wochenschr. 443:1917;575.
53. Bücklers M. Ueber eine weitere familiäre Hornhautdystrophie (Reis). Klin Mbl Augenheilk. 114:1949;386-397.
54. Møller H.U. Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B) one entity? Acta Ophthalmol (Copenh). 67:1989;678-684.
55. Kuchle M., Green W.R., Volcker H.E., Barraquer J. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types) a light and electron microscopic study of eight corneas and a review of the literature . Cornea. 14:1995;333-354.
56. Hida T., Tsubota K., Kigasawa K., Murata H., Ogata T., Akiya S. Clinical features of a newly recognized type of lattice corneal dystrophy. Am J Ophthalmol. 104:1987;241-248.
57. Hida T., Proia A.D., Kigasawa K., et al. Histopathologic and immunochemical features of lattice corneal dystrophy type III. Am J Ophthalmol. 104:1987;249-254.
58. Stock E.L., Feder R.S., O'Grady R.B., Sugar J., Roth S.I. Lattice corneal dystrophy type IIIA clinical and histopathologic correlations . Arch Ophthalmol. 109:1991;354-358.
59. Seitz B., Weidle E., Naumann G.O. Einseitige gittrige stromale Hornhautdystrophie Typ III (Hida). Klin Monatsbl Augenheilkd. 203:1993;279-285.
60. Klintworth G.K., Valnickova Z., Kielar R.A., Baratz K.H., Campbell R.J., Enghild J.J. Familial subepithelial corneal amyloidosis a lactoferrin-related amyloidosis . Invest Ophthalmol Vis Sci. 38:1997;2756-2763.
61. Klintworth G K, Sommer JR, Obrian G, et al. Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Mol Vis 1998;4:31. URL: http://www.molvis.org/molvis/v4/p31/.
62. Franceschetti A.T. La cornea verticillata (Gruber) et ses relations avec la maladie de Fabry (Angiokeratoma corporis diffusum). Ophthalmologica. 156:1968;232-238.
63. Macsai M.S., Doshi H. Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis. Am J Ophthalmol. 118:1994;477-484.
64. Yassa N.H., Font R.L., Fine B.S., Koffler B.H. Corneal immunoglobulin deposition in the posterior stroma a case report including immunohistochemical and ultrastructural observations . Arch Ophthalmol. 105:1987;99-103.
65. Takeuchi T., Furihata M., Heng H.H., Sonobe H., Ohtsuki Y. Chromosomal mapping and expression of the human B120 gene. Gene. 213:1998;189-193.
66. Thiel H.J., Behnke H. Ein bisher unbekannte subepitheliale hereditare Hornhautdystrophie. Klin Monatsbl Augenheilkd. 150:1967;862-874.
67. Perry H.D., Fine B.S., Caldwell D.R. Reis-Bücklers dystrophy a study of eight cases . Arch Ophthalmol. 97:1979;664-670.
68. Small K.W., Mullen L., Barletta J., et al. Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q. Am J Ophthalmol. 121:1996;384-390.
69. Callaghan M., Hand C.K., Kennedy S.M., FitzSimon J.S., Collum L.M., Parfrey N.A. Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. Br J Ophthalmol. 83:1999;115-119.
70. Klintworth G.K. Degenerations, depositions and miscellaneous reactions of the ocular anterior segment. Garner A., Klintworth K.G. Pathobiology of ocular disease a dynamic approach . 2nd ed. 1994;743-794 Marcel Dekker, Inc, New York.