A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

British Journal of Ophthalmology

Volumn 87, Issue 7, 2003, Pages 839-842

  El Ashry, M F ^a,b   Abd El Aziz, M M ^a   Larkin, D F P ^b   Clarke, B ^a   Cree, I A ^a   Hardcastle, A J ^a   Bhattacharya, S S ^a   Ebenezer, N D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; ARGININE; CONGO RED; GENOMIC DNA; HISTIDINE; TRANSFORMING GROWTH FACTOR BETA;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMPLIFIED RIBOSOMAL DNA RESTRICTION ANALYSIS; ANTERIOR EYE CHAMBER; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA; CORNEA DYSTROPHY; DNA EXTRACTION; DNA POLYMORPHISM; EXON; FEMALE; GENE MUTATION; GENE TRANSFER; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KERATOPLASTY; LEUKOCYTE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYMPTOMATOLOGY;

ADULT; AGED; AGED, 80 AND OVER; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; EXONS; FEMALE; GREAT BRITAIN; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; SEQUENCE ANALYSIS;

EID: 0038121931     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.87.7.839     Document Type: Article

References (21)

1. Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits:a study of three families. Ophthalmology 1988;95:46-51.
2. Rosenwasser GO, Sucheski BM, Rosa N, et al. Phenotype variation in combined granular-lattice corneal dystrophy. Arch Ophthalmol 1993;111:1546-52.
3. Kennedy SMO, McNamara M, Hillery M, et al. Combined granular lattice dystrophy (Avellino corneal dystrophy). Br J Ophthalmol 1996;80:489-90.
4. Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31 linked corneal dystrophies. Nat Genet 1997;15:247-51.
5. Santo RM, Yamaguchi T, Kanai A, et al. Clinical and histopathologic features of corneal dystrophies in Japan. Ophthalmology 1995;557-67.
6. Konishi M, Yamada Y, Nakamura Y, et al. Granular-lattice (Avellino) corneal dystrophy in Japanese patients. Cornea 1997;16:635-8.
7. Konishi M, Yamada M, Nakamura Y, et al. Corneal dystrophy associated with R124H mutation in the Big-h3 gene. Cornea 1999;18:424-9.
8. Akimune C, Watanabe H, Maeda N, et al. Corneal guttata associated with the corneal dystrophy resulting from a Big-h3 R124H mutation. Br J Ophthalmol 2000;84:67-71.
9. Dighiero P, Ellies P, Valleix S, et al. Avellino corneal dystrophy. J Fr Ophtalmol 2000;23:735-7.
10. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy: clinical manifestations and natural history. Ophthalmology 1992;99:1564-8.
11. Lucarelli MJ, Adamis AP. Avellino corneal dystrophy. Arch Ophthalmol 1994;112:418.
12. Garner A. Histochemistry of corneal granular dystrophy. Br J Ophthalmol 1969;53:799-805.
13. Akiya S, Brown SI. Granular dystrophy of the cornea: characteristic electron microscopic lesion. Arch Ophthalmol 1970;84:179-92.
14. Owens SL, Sugar J. Edward DP. Superficial granular corneal dystrophy with amyloid deposit. Arch Ophthalmol 1992;110:175-6.
15. Skonier J, Neubauer M, Madisen L, et al. cDNA cloning and sequence analysis beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol 1992;11:511-22.
16. Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998;62:320-4.
17. Schmitt-Bernard CF, Guittard C, Arnaud B, et al. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest Ophthalmol Vis Sci 2000;41:1302-8.
18. Sassani J, Smith SG, Rabinowitz YS. Keratoconus and bilateral lattice-granular corneal dystrophies. Cornea 1992;11:343-50.
19. Okada M, Yamamoto S, Tsujikawa M, et al. Two distinct kerato-epithelin mutations in Reis-Bucklers' corneal dystrophy. Am J Ophthalmol 1998;126:535-42.
20. Stewart HS, Ridgway AE, Dixon MJ, et al. Heterogeneity in granular corneal dystrophy:Identification of three causative mutations in the TGFB (BIGH3) gene-Lessons for corneal amyloidogenesis. Hum Mut 1999;14:126-32.
21. Okada M, Yamamoto S, Inoue Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci 1998;39:1947-53.