Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

British Journal of Ophthalmology

Volumn 82, Issue 11, 1998, Pages 1280-1284

  Mashima, Yukihiko ^a   Konishi, Minako ^a   Nakamura, Yu ^a   Imamura, Yutaka ^a   Yamada, Masakazu ^a   Ogata, Tetsuya ^a   Kudoh, Jun ^a   Shimizu, Nobuyoshi ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; HISTIDINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CORNEA DYSTROPHY; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; JAPAN; KERATECTOMY; KERATOPLASTY; LEUKOCYTE; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0031726475     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.82.11.1280     Document Type: Article

References (24)

1. Mannis MJ, De Sousa LB, Gross RH. The stromal dystrophies. In: Krachmer JH, Mannis MJ, Holland EJ, eds. Cornea, cornea and external disease: clinical diagnosis and management, II. St Louis: Mosby, 1997:1043-62.
2. Kanai A, Tanaka M, Yamaguchi T, et al. Histopathological study of the granular dystrophy of the cornea [in Japanese]. Nippon Ganka Kiyo 1974;25:591-601.
3. Haddad R, Font RL, Fine BS. Unusual superficial variant of granular dystrophy of the cornea. Am J Ophthalmol 1977;83:213-8.
4. Kumagai S, Kondo T, Tazawa Y, et al. Histologic features of an atypical case of granular corneal dystrophy [in Japanese]. Nippon Ganka Kiyo 1981;32:1595-602.
5. Rodrigues MM, Gaster RN, Pratt MV. Unusual superficial confluent form of granular corneal dystrophy. Ophthalmology 1983;90:1507-11.
6. Møller HU, Ridgway AEA. Granular corneal dystrophy Groenouw type I. A report of a probable homozygous patient. Acta Ophthalmol (Copenh) 1990;68:97-101.
7. Sajjadi SH, Javadi MA. Superficial juvenile granular dystrophy. Ophthalmology 1992;99:95-102.
8. Owend SL, Sugar J, Edward DP. Superficial granular corneal dystrophy with amyloid deposits. Arch Ophthalmol 1992;110:175-6.
9. Takagi M, Ishizu M, Suzuki H. An electron microscopic and histochemical study on a corneal granular dystrophy (Groenouw type I) [in Japanese]. Nippon Ganka Kiyo 1971;22:479-84.
10. Munier FL, Korvatska E, Djemaï A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-51.
11. 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. A m J Hum Genet 1997;61:1448-50.
12. Konishi M, Mashima Y, Nakamura Y, et al. Granular-lattice (Avellino) corneal dystrophy in Japanese patients. Cornea 1997;16:635-8.
13. Mashima Y, Kazama N, Murata H, et al. A case of granular corneal dystrophy with early onset [in Japanese]. Atarashii Ganka 1988;5:1493-6.
14. Escribano J, Hernando N, Ghosh S, et al. cDNA from human ocular ciliary epithelium homologous to β-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 1994;160:511-21.
15. Aono H, Takayama T. Groenouw's corneal opacity observed at the graft after keratoplasty [in Japanese]. Nippon Ganka Kiyo 1961;12:585-9.
16. Harada T, Kojima K, Hoshino M, et al. A light and electronmicroscopic study of heredo-familial corneal dystrophy (Groenouw I) [in Japanese]. Nippon Ganka Gakkai Zasshi 1977;81:48-61.
17. Kanai J, Yamaguchi T, Nakajima A. The histochemical and analytical microscopic studies of the corneal granular dystrophy [in Japanese]. Nippon Ganka Gakkai Zasshi 1977;81:145-54.
18. Kodama Y, Akagi Y. Recurrence of granular corneal dystrophy following lamellar keratoplasty [in Japanese]. Ganka Rinsho Iho 1981;75:437-40.
19. Folberg R, Alfonso E, Croxatto O, et al. Clinically atypical granular corneal dystrophy with pathological features of lattice-like amyloid deposits: a study of three families. Ophthalmology 1988;95:46-51.
20. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy: clinical manifestations and natural history. Ophthalmology 1992;99:1564-8.
21. Rosenwasser GOD, Sucheski BM, Rosa N, et al. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol 1993;111:1546-52.
22. Folberg R, Stone EM, Sheffield VC, et al. The relationship between granular, lattice type 1, and Avellino corneal dystrophies: a histopathologic study. Arch Ophthalmol 1994;112:1080-5.
23. Garner A. Histochemistry of corneal granular dystrophy. Br J Ophthalmol 1969;53:799-807.
24. Akiya S, Brown SI. Granular dystrophy of the cornea: characteristic electron microscopic lesion. Arch Ophthalmol 1970;84:179-92.