137
Views
11
CrossRef citations to date
0
Altmetric
Original Article

Structural Collagen Alterations in Macular Corneal Dystrophy Occur Mainly in the Posterior Stroma

, , , , , , , , & show all
Pages 580-586 | Received 01 Dec 2009, Accepted 28 Feb 2010, Published online: 02 Jul 2010

REFERENCES

  • Klintworth GK, Vogel FS. Macular corneal dystrophy. An inherited acid mucopolysaccharide storage disease of the corneal fibroblast. Am J Pathol. 1964;45:565–586.
  • Klintworth GK, Smith CF. Abnormalities of proteoglycans and glycoproteins synthesized by corneal organ cultures derived from patients with macular corneal dystrophy. Lab Invest. 1983;48:603–612.
  • Hassell JR, Newsome DA, Krachmer JH, et al. Macular corneal dystrophy: Failure to synthesize a mature keratan sulfate proteoglycan. Proc Natl Acad Sci U S A. 1980;77:3705–3709.
  • Nakazawa K, Hassell JR, Hascall VC, et al. Defective processing of keratan sulfate in macular corneal dystrophy. J Biol Chem. 1984;259:13751–13757.
  • Midura RJ, Hascall VC, MacCallum DK, et al. Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy. J Biol Chem. 1990;265:15947–15955.
  • Plaas AH, West LA, Thonar EJ, et al. Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy. J Biol Chem. 2001;276:39788–39796.
  • Klintworth GK.Genetic disorders of the cornea. In: GK and A Garner (Eds.). Pathobiology of Ocular Disease, 3rd edition. New York: Klintworth, Informa Healthcare, 2008; pp. 615–713.
  • Caterson B, Christner JE, Baker JR. Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan. J Biol Chem. 1983;258:8848–8854.
  • Mehmet H, Scudder P, Tang PW, et al. The antigenic determinants recognized by three monoclonal antibodies to keratan sulphate involve sulphated hepta- or larger oligosaccharides of the poly(N-acetyllactosamine) series. Eur J Biochem. 1986;157:385–391.
  • Thonar EJ, Meyer RF, Dennis RF, et al. Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. Am J Ophthalmol. 1986;102:561–569.
  • Klintworth GK, Meyer R, Dennis R, et al. Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea. Ophthalmic Paediatr Genet. 1986;7:139–143.
  • Yang CJ, SundarRaj N, Thonar EJ, et al. Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. Am J Ophthalmol. 1988;106:65–71.
  • Edward DP, Yue BY, Sugar J, et al. Heterogeneity in macular corneal dystrophy. Arch Ophthalmol. 1988;106:1579–1583.
  • Klintworth GK, Oshima E, al-Rajhi A, et al. Macular corneal dystrophy in Saudi Arabia: A study of 56 cases and recognition of a new immunophenotype. Am J Ophthalmol 1997;124:9–18.
  • Quantock AJ, Young RD, Akama TO. Structural and biochemical aspects of keratan sulphate in the cornea. Cell Mol Life Sci. 2010;67:89–906.
  • Blochberger TC, Vergnes JP, Hempel J, et al. cDNA to chick lumican (corneal keratan sulfate proteoglycan) reveals homology to the small interstitial proteoglycan gene family and expression in muscle and intestine. J Biol Chem. 1992;267:347–352.
  • Corpuz LM, Funderburgh JL, Funderburgh ML, et al. Molecular cloning and tissue distribution of keratocan. Bovine corneal keratan sulfate proteoglycan 37A. J Biol Chem. 1996;271:9759–9763.
  • Funderburgh JL, Corpuz LM, Roth MR, et al. Mimecan, the 25-kDa corneal keratan sulfate proteoglycan, is a product of the gene producing osteoglycin. J Biol Chem. 1997;272:28089–28095.
  • Scott JE, Haigh M. ‘Small’ proteoglycan:collagen interactions: Keratan sulphate proteoglycan associates with rabbit corneal collagen fibrils at the ‘a’ and ‘c’ bands. Biosci Rep. 1986;5:765–774.
  • Meek KM, Elliott GF, Nave C. A synchrotron X-ray diffraction study of bovine cornea stained with cupromeronic blue. Coll Relat Res. 1986;6:203–218.
  • Bettelheim FA, Plessy B. The hydration of proteoglycans of bovine cornea. Biochim Biophys Acta. 1975;381:203–214.
  • Bettelheim FA, Goetz D. Distribution of hexosamines in bovine cornea. Invest Ophthalmol. 1976;15:301–304.
  • Castoro JA, Bettelheim AA, Bettelheim FA. Water gradients across bovine cornea. Invest Ophthalmol Vis Sci. 1988;29:963–968.
  • Borcherding MS, Blacik LJ, Sittig RA, et al. Proteoglycans and collagen fibre organization in human corneoscleral tissue. Exp Eye Res. 1975;21:59–70.
  • Ehlers N, Bramsen T. Central thickness in corneal disorders. Acta Ophthalmol. 1978;56:412–416.
  • Donnenfeld ED, Cohen EJ, Ingraham HJ, et al. Corneal thinning in macular corneal dystrophy. Am J Ophthalmol. 1986;101:112–113.
  • Fullwood NJ, Tuft SJ, Malik NS, et al. Synchrotron x-ray diffraction studies of keratoconus corneal stroma. Invest Ophthalmol Vis Sci. 1992;33:1734–1741.
  • Meek KM, Tuft SJ, Huang Y, et al. Changes in collagen orientation and distribution in keratoconus corneas. Invest Ophthalmol Vis Sci. 2005;46:1948–1956.
  • Meek KM, Quantock AJ, Elliott GF, et al. Macular corneal dystrophy: The macromolecular structure of the stroma observed using electron microscopy and synchrotron x-ray diffraction. Exp Eye Res. 1989;49:941–958.
  • Quantock AJ, Meek KM, Ridgway AEA, et al. Macular corneal dystrophy: Reduction in both corneal thickness and collagen interfibrillar spacing. Curr Eye Res. 1990;9:393–398.
  • Scott JE, Haigh M, Ali P. Keratan sulphate is unevenly distributed from back to front of bovine cornea. Biochem Soc Trans. 1988;16:333–334.
  • Scott JE, Bosworth TR. A comparative biochemical and ultrastructural study of proteoglycan-collagen interactions in corneal stroma. Biochem J. 1990;270:491–497.
  • Meek KM, Quantock AJ. The use of x-ray scattering techniques to determine corneal ultrastructure. Prog Ret Eye Res. 2001;20:95–137.
  • Quantock AJ, Boote C, Young RD, et al. Small-angle fibre diffraction studies of corneal matrix structure: A depth-profiled investigation of the human eye-bank cornea. J Appl Crystal. 2007;40:335–340.
  • Worthington CR, Inouye H. X-ray diffraction study of the cornea. Int J Biol Macromol. 1985;7:2–8.
  • Boote C, Dennis S, Newton RH, et al. Collagen fibrils appear more closely packed in the prepupillary cornea: Optical and biomechanical implications. Invest Ophthalmol Vis Sci. 2003;44:2941–2948.
  • Quantock AJ, Meek KM, Fullwood NJ, et al. Scheie’s syndrome: The architecture of corneal collagen and distribution of corneal proteoglycans. Can J Ophthalmol. 1993;28:266–272.
  • Quantock AJ, Meek KM, Thonar EJ-MA, et al. Synchrotron x-ray diffraction in atypical macular dystrophy. Eye 1993;7:779–784.
  • Quantock AJ, Fullwood NJ, Thonar EJ-MA, et al. Macular corneal dystrophy type II: Multiple studies on a cornea with low levels of sulphated keratan sulphate. Eye 1997;11:57–67.
  • Akama TO, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet. 2000;26:237–241.
  • Akama TO, Nakayama J, Nishida K, et al. Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfate. J Biol Chem. 2001;276:16271–16278.
  • Fukuta M, Inazawa J, Torii T, et al. Molecular cloning and characterization of human keratan sulfate Gal-6-sulfotransferase. J Biol Chem. 1997;272:32321–32328.
  • Liu NP, Dew-Knight S, Rayner M, et al. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Mol Vis. 2000;6:261–264.
  • El-Ashry MF, Abd El-Aziz MM, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002;43:377–382.
  • Niel F, Ellies P, Dighiero P, et al. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003;44:2949–2953.
  • Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. Mutations in the CHST6 gene in patients with macular corneal dystrophy: Immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci. 2003;44:3272–3277.
  • Warren JF, Aldave AJ, Srinivasan M, et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003;121:1608–1612.
  • Abbruzzese C, Kuhn U, Molina F, et al. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet. 2004;65:120–125.
  • Aldave AJ, Yellore VS, Thonar EJ, et al. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004;137:465–473.
  • El-Ashry MF, Abd El-Aziz MM, Shalaby O, et al. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol. 2005;139:192–193.
  • Liu NP, Bao W, Smith CF, et al. Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. Am J Ophthalmol. 2005;139:1118–1120.
  • Liu NP, Smith CF, Bowling BL, et al. Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Mol Vis. 2006;12:1148–1152.
  • Klintworth GK, Smith CF, Bowling BL. CHST6 mutations in North American subjects with macular corneal dystrophy: A comprehensive molecular genetic review. Mol Vis. 2006;12:159–176.
  • Liskova P, Veraitch B, Jirsova K, et al. Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. Br J Ophthalmol. 2008;92:265–267.
  • Sultana A, Klintworth GK, Thonar EJ, et al. Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. Mol Vis. 2009;15:319–325.
  • Dang X, Zhu Q, Wang L, et al. Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6. Mol Vis. 2009;15:700–705.
  • El-Ashry MF, Abd El-Aziz MM, Shalaby O, et al. Molecular genetic study of Egyptian patients with macular corneal dystrophy. Br J Ophthalmol. 2009; 250–255.
  • Knupp C, Pinali C, Lewis PN, et al. The architecture of the cornea and structural basis of its transparency. Adv Prot Chem Struct Biol. 2009;78:25–49.
  • Parfitt GJ, Pinali C, Young RD, et al. Three-dimensional reconstruction of collagen-proteoglycan interactions in the mouse corneal stroma by electron tomography. J Struct Biol. 2010;170:392–397.
  • Birk DE, Fitch JF, Babiarz JP, et al. Collagen fibrillogenesis in vitro: Interaction of types I and V collagen regulates fibril diameter. J Cell Sci. 1990;95:649–657.
  • Rada J, Cornuet PK, Hassell JR. Regulation of corneal collagen fibrillogenesis in vitro by corneal proteoglycan (lumican and decorin) core proteins. Exp Eye Res. 1993;56:635–648.
  • Chakravarti S, Petroll WM, Hassell JR, et al. Corneal opacity in lumican-null mice: Defects in collagen fibril structure and packing in the posterior stroma. Invest Ophthalmol Vis Sci. 2000;41:3365–3373.
  • Quantock AJ, Meek KM, Thonar EJ-MA. Analysis of high-angle synchrotron x-ray diffraction patterns obtained from macular dystrophy corneas. Cornea 1992;11:185–190.
  • Hayashida Y, Akama TO, Beecher N, et al. Matrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O sulfotransferase. Proc Natl Acad Sci USA. 2006;103:13333–13338.
  • Young RD, Tudor D, Hayes AJ, et al. Atypical composition and ultrastructure of proteoglycans in the mouse corneal stroma. Invest Ophthalmol Vis Sci. 2005;46:1973–1978.
  • Scott JE, Haigh M. Keratan sulphate and the ultrastructure of cornea and cartilage: A ‘stand-in’ for chondroitin sulphate in conditions of oxygen lack? J Anat. 1988;158:95–108.
  • Scott JE. Chondroitin sulphate and keratan sulphate are almost isosteric. Biochem J. 1991;275:267–268.
  • Scott JE. Keratan sulphate—A ‘reserve’ polysaccharide. Eur J Clin Chem Clin Biochem. 1994;32:217–223.
  • Stockwell RA, Scott JE. Observations on the acid glycosaminoglycan (mucopolysaccharide) content of the matrix of aging cartilage. Ann Rheum Dis. 1965;24:341–350.
  • Stockwell RA. Morphometry of cytoplasmic components of mammalian articular chondrocytes and corneal keratocytes: Species and zonal variations of mitochondria in relation to nutrition. J Anat. 1991;175:251–261.
  • Lewis D, Davies Y, Nieduszynski IA, et al. Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. Glycobiology 2000;10:305–312.
  • Young RD, Akama TO, Liskova P, et al. Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies. Histochem Cell Biol. 2007;127:115–120.
  • Saito T, Nishida K, Nakayama J, et al. Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. Br J Ophthalmol. 2008;92:1434–1436.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.