Lattice corneal dystrophy type I without typical lattice lines: Role of mutational analysis

American Journal of Ophthalmology

Volumn 137, Issue 3, 2004, Pages 586-588

  Yoshida, Shigeo ^a   Yoshida, Ayako ^a   Nakao, Shintaro ^a   Emori, Aki ^a   Nakamura, Takao ^a   Fujisawa, Kimihiko ^a   Kumano, Yuji ^b   Ishibashi, Tatsuro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b Ohshima Hospital of Ophthalmology   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; TRANSFORMING GROWTH FACTOR BETA1;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CODON; CORNEA DYSTROPHY; CORNEA EPITHELIUM; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; DISEASE COURSE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOME; HETEROZYGOSITY; HUMAN; JAPAN; LABORATORY TEST; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; OPHTHALMOLOGY; PRIORITY JOURNAL; STROMA;

CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL OPACITY; CORNEAL STROMA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; TRANSFORMING GROWTH FACTOR BETA; VISUAL ACUITY;

EID: 1542297320     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2003.09.003     Document Type: Article

References (5)

1. Munier F.L., Korvatska E., Djemai A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
2. Yoshida S., Kumano Y., Yoshida A., et al. An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. Jpn J Ophthalmol. 46:2002;469-471.
3. Korvatska E., Henry H., Mashima Y., et al. Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem. 275:2000;11465-11469.
4. Klintworth G.K. Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea. Am J Pathol. 50:1967;371-399.
5. Inoue K., Amano S., Oshika T., Sawa M., Tsuru T. A 10-year review of penetrating keratoplasty. Jpn J Ophthalmol. 44:2000;139-145.