Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp

Cornea

Volumn 29, Issue 11, 2010, Pages 1215-1222

  Patel, Dhara A ^a   Chang, Shu Hong ^a   Harocopos, George J ^a   Vora, Smita C ^a   Thang, Diep Huu ^b   Huang, Andrew J W ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Ho Chi Minh City University of Science   (Viet Nam)

Author keywords

amyloid; Avellino corneal dystrophy; keratoepithelin; TGFBIp; ThT

Indexed keywords

AMYLOID; CONGO RED; FLUORESCENT DYE; THIOFLAVINE; TRANSFORMING GROWTH FACTOR BETA;

ADULT; ARTICLE; BIREFRINGENCE; CASE REPORT; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA STROMA; FLUORESCENCE IMAGING; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; LINEAR DICHROISM; MALE; PRIORITY JOURNAL;

ADULT; AMYLOID; ANTIBODY SPECIFICITY; ARGININE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL STROMA; CYSTEINE; EXTRACELLULAR MATRIX PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; FLUORESCENT DYES; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PENETRANCE; STAINING AND LABELING; THIAZOLES; TRANSFORMING GROWTH FACTOR BETA;

EID: 78149280100     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e3181d4f737     Document Type: Article

References (48)

1. Weiss JS, Moller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea. 2008;27:S1-S42.
2. Aldave AJ, Sonmez B. Elucidating the molecular genetic basis of the cor-neal dystrophies: are we there yet? Arch Ophthalmol. 2007;125:177-186.
3. Kennedy SM, McNamara M, Hillery M, et al. Combined granular lattice dystrophy (Avellino corneal dystrophy). Br J Ophthalmol. 1996;80: 489-490.
4. Folberg R, Alfonso E, Croxatto JO, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. Ophthalmology. 1988;95:46-51.
5. Weidle E. Granular corneal dystrophy: two variants. In: Olivera LF, ed. Ophthalmology Today. Amsterdam, The Netherlands: Elsevier; 1988:617-619.
6. Vassar PS, Culling CF. Fluorescent stains, with special reference to amyloid and connective tissues. Arch Pathol. 1959;68:487-498.
7. Cung le X, Ha NT, Chau HM, et al. Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. Jpn J Ophthalmol. 2004;48:12-16.
8. El-Ashry MF, Abd El-Aziz MM, Larkin DF, et al. A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. Br J Ophthalmol. 2003;87:839-842.
9. Huerva V, Velasco A, Sanchez MC, et al. Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy. Eur J Ophthalmol. 2008; 18:345-350.
10. Kobayashi A, Fujiki K, Fujimaki T, et al. In vivo laser confocal microscopic findings of corneal stromal dystrophies. Arch Ophthalmol. 2007;125:1168-1173.
11. Meallet MA, Affeldt JA, McFarland TJ, et al. An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman. Am J Ophthalmol. 2004;137:765-767.
12. Moon JW, Kim SW, Kim TI, et al. Homozygous granular corneal dystrophy type II (Avellino corneal dystrophy): natural history and progression after treatment. Cornea. 2007;26:1095-1100.
13. Stewart HS, Ridgway AE, Dixon MJ, et al. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Hum Mutat. 1999;14:126-132.
14. Okada M, Yamamoto S, Inoue Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci. 1998;39:1947-1953.
15. Alavi A, Elahi E, Rahmati-Kamel M, et al. Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. Clin Experiment Ophthalmol. 2008;36:26-30.
16. Santos LN, Fernandes BF, de Moura LR, et al. Histopathologic study of corneal stromal dystrophies: a 10-year experience. Cornea. 2007;26: 1027-1031.
17. Holland EJ, Daya SM, Stone EM, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology. 1992;99: 1564-1568.
18. Rosenwasser GO, Sucheski BM, Rosa N, et al. Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy. Arch Ophthalmol. 1993;111:1546-1552.
19. Konishi M, Mashima Y, Yamada M, et al. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. Am J Ophthalmol. 1998;126:450-452. (Pubitemid 28422074)
20. Kocak-Altintas AG, Kocak-Midillioglu I, Akarsu AN, et al. BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. Cornea. 2001;20:64-68.
21. Solari HP, Ventura MP, Perez AB, et al. TGFBI gene mutations in Brazilian patients with corneal dystrophy. Eye. 2007;21:587-590.
22. Takacs L, Boross P, Tozser J, et al. Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. Exp Eye Res. 1998;66: 739-745.
23. Ma C, Rong Y, RadiloffDR, et al. Extracellular matrix protein betaig-h3/TGFBI promotes metastasis of colon cancer by enhancing cell extravasation. Genes Dev. 2008;22:308-321.
24. Streeten BW, Qi Y, Klintworth GK, et al. Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol. 1999;117:67-75.
25. Ferry AP, Benson WH, Weinberg RS. Combined granular-lattice ('Avellino') corneal dystrophy. Trans Am Ophthalmol Soc. 1997;95:61-77.
26. Konishi M, Yamada M, Nakamura Y, et al. Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. Curr Eye Res. 2000;21:891-896.
27. Garner A. Histochemistry of corneal granular dystrophy. Br J Ophthalmol. 1969;53:799-807.
28. Wheeldon CE, de Karolyi BH, Patel DV, et al. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. Mol Vis. 2008;14:1503-1512.
29. Kuchle M, Green WR, Volcker HE, et al. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea. 1995;14:333-354.
30. Ridgway AE, Akhtar S, Munier FL, et al. Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Invest Ophthalmol Vis Sci. 2000;41:3286-3292.
31. Smith ME, Zimmerman LE. Amyloid in corneal dystrophies. Differentiation of lattice from granular and macular dystrophies. Arch Ophthalmol. 1968;79:407-412.
32. Stafford WR, Fine BS. Amyloidosis of the cornea. Report of a case without conjunctival involvement. Arch Ophthalmol. 1966;75:53-56.
33. Smith ME, Zimmerman LE. Amyloidosis of the eyelid and conjunctiva. Arch Ophthalmol. 1966;75:42-51.
34. Awwad ST, Di Pascuale MA, Hogan RN, et al. Avellino corneal dystrophy worsening after laser in situ keratomileusis: further clinicopathologic observations and proposed pathogenesis. Am J Ophthalmol. 2008;145: 656-661.
35. Murakami K, Irie K, Morimoto A, et al. Neurotoxicity and physico-chemical properties of Abeta mutant peptides from cerebral amyloid angiopathy: implication for the pathogenesis of cerebral amyloid angiopathy and Alzheimer's disease. J Biol Chem. 2003;278: 46179-46187.
36. Khurana R, Uversky VN, Nielsen L, et al. Is Congo red an amyloid-specific dye? J Biol Chem. 2001;276:22715-22721.
37. Munier FL, Frueh BE, Othenin-Girard P, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002;43:949-954.
38. Tsujikawa K, Tsujikawa M, Watanabe H, et al. Allelic homogeneity in Avellino corneal dystrophy due to a founder effect. J Hum Genet. 2007; 52:92-97.
39. Akiya S, Brown SI. Granular dystrophy of the cornea. Characteristic electron microscopic lesion. Arch Ophthalmol. 1970;84:179-192.
40. Iwamoto T, Stuart JC, Srinivasan BD, et al. Ultrastructural variation in granular dystrophy of the cornea. Albrecht Von Graefes Arch Klin Exp Ophthalmol 1975;194:1-9.
41. Stuart JC, Mund ML, Iwamoto T, et al. Recurrent granular corneal dystrophy. Am J Ophthalmol. 1975;79:18-24.
42. Yanoff M, Fine BS, Colosi NJ, et al. Lattice corneal dystrophy. Report of an unusual case. Arch Ophthalmol. 1977;95:651-655.
43. 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;112:1080-1085.
44. Lanier JD, Fine M, Togni B. Lattice corneal dystrophy. Arch Ophthalmol. 1976;94:921-924.
45. Kim JE, Park RW, Choi JY, et al. Molecular properties of wild-type and mutant betaIG-H3 proteins. Invest Ophthalmol Vis Sci. 2002;43:656-661.
46. Yuan C, Berscheit HL, Huang AJ. Identification of an amyloidogenic region on keratoepithelin via synthetic peptides. FEBS Lett. 2007;581: 241-247.
47. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. 1999;128:747-754.
48. Stone EM, Mathers WD, Rosenwasser GO, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6: 47-51.