Contact Lens & Anterior Eye
Volume 33, Issue 1 , Pages 33-40 , February 2010

Confocal microscopy and optical coherence tomography imaging of hereditary granular dystrophy

  • Kristine Dalton

      Affiliations

    • School of Optometry, University of Waterloo, Waterloo, Ontario, Canada
    • Center for Contact Lens Research, University of Waterloo, Ontario, Canada
    • Corresponding Author InformationCorresponding author at: Center for Contact Lens Research, School of Optometry, University of Waterloo, 200 University Ave West, Waterloo, ON, Canada N2L 6E3. Tel.: +519 888 4567x35030; fax: +519 884 8769.
    • ,
  • Simone Schneider

      Affiliations

    • School of Optometry, University of Waterloo, Waterloo, Ontario, Canada
    • Center for Contact Lens Research, University of Waterloo, Ontario, Canada
    • ,
  • Luigina Sorbara

      Affiliations

    • School of Optometry, University of Waterloo, Waterloo, Ontario, Canada
    • Center for Contact Lens Research, University of Waterloo, Ontario, Canada
    • ,
  • Lyndon Jones

      Affiliations

    • School of Optometry, University of Waterloo, Waterloo, Ontario, Canada
    • Center for Contact Lens Research, University of Waterloo, Ontario, Canada

References 

  1. Groenouw A. Knötchenförmige Hornhauttrübungen (noduli corneae). Arch Augenheilkd. 1890;21:281–289
  2. Poulaki V, Colby K. Genetics of anterior and stromal corneal dystrophies. Semin Ophthalmol. 2008;23(1):9–17
  3. Williams TD, Lyle WM. Granular corneal dystrophy: slitlamp biomicroscopic appearances in three generations of patients. Optom Vis Sci. 2001;78(2):79–84
  4. Akiya S, Brown S. The ultrastructure of Reis-Bucklers’ dystrophy. Am J Ophthalmol. 1971;72:549–554
  5. Klintworth G. Proteins in ocular disease. In: A G ,  Klintworth G editor. Pathobiologoy of Ocular Disease: A Dynamic Approach. New York: M Dekker; 1994;p. 973–1031
  6. Casey T, Sharif K. A Colour Atlas of Corneal Dystrophies & Degenerations. Aylesbury: Mosby-Wolfe; 1991;
  7. Akiya S, Brown SI. Granular dystrophy of the cornea. Characteristic electron microscopic lesion. Arch Ophthalmol. 1970;84(2):179–192
  8. Reis W. Familiare, fleckige Hornhautetartung. Dtsch Med Wochenschr. 1917;43:575
  9. Bucklers M. Uber eine weitere familiare Hornhautdsytrophie (Reis). Klin Monatsbl Augenheilkd. 1949;114:386–397
  10. Dighiero P, Neil F, Ellies P, D’Hernies F, Savoldelli M, Renard G, et al. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology. 2001;108(4):818–823
  11. Arffa R. Dystrophies of the epithelium, Bowman's layer, and stroma. In:  Arffa R,  Grayson M editor. Grason's Diseases of the Cornea. St Louis: Mosby; 1997;p. 413–463
  12. Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6(1):47–51
  13. Eiberg H, Moller HU, Berendt I, Mohr J. Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur J Hum Genet. 1994;2(2):132–138
  14. McKusick V, Antonakrakis S. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Baltimore: Johns Hopkins University Press; 1998;entry 121900
  15. Bron AJ. Genetics of the corneal dystrophies: what we have learned in the past twenty-five years. Cornea. 2000;19(5):699–711
  16. Akhtar S, Meek KM, Ridgeway AE, Bonshek RE, Bron AJ. Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea. Arch Ophthalmol. 1999;117(3):310–321
  17. Suesskind D, Auw-Haedrich C, Schorderet DF, Munier FL, Loeffler KU. Keratoepithelin in secondary corneal amyloidosis. Graefes Arch Clin Exp Ophthalmol. 2006;244(6):725–731
  18. Munier FL, Korratska E, Djemai A, LePaslier D, Zorgrafos L, Pescia G, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15(3):247–251
  19. Okada M, Yamamoto S, Watanabe H, Inoue Y, Tsujikawa M, Maeda N, et al. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol. 1998;126(2):169–176
  20. Fujiki K, Hotta Y, Nakayasu K, Kanai A. Homozygotic patient with betaig-h3 gene mutation in granular dystrophy. Cornea. 1998;17(3):288–292
  21. Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci. 1998;39(10):1947–1953
  22. Hashimoto K, Noshiro M, Ohno S, Kawamoto T, Satakeda H, Akagawa Y, et al. Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen. Biochim Biophys Acta. 1997;1355(3):303–314
  23. LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J, Purchio AF. Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. J Invest Dermatol. 1995;104(5):844–849
  24. Tanhehco TY, Eifrig DE, Schwab IR, Rapuano CJ, Klintworth GK. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol. 2006;124(4):589–593
  25. Kannabiran C, Sridhar MS, Chakravarthi SK, Vemuganti GK, Laksmipathi M. Genotype-phenotype correlation in 2 Indian families with severe granular corneal dystrophy. Arch Ophthalmol. 2005;123(8):1127–1133
  26. Ellies P, Renard G, Walleix S, Boelle PY, Dighiero P. Clinical outcome of eight BIGH3-linked corneal dystrophies. Ophthalmology. 2002;109(4):793–797
  27. Diaper CJ, Schorderet DF, Chaubert P, Munier FL. Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation. Eye. 2005;19(1):92–96
  28. Mashima Y, Konishi M, Nakamura Y, Imamura Y, Yamada M, Ogata T, et al. Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients. Br J Ophthalmol. 1998;82(11):1280–1284
  29. Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, et al. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. Am J Ophthalmol. 1998;126(4):535–542
  30. Schmitt-Bernard CF, Chavanieu A, Herrada G, Subra Gm Arnaud B, Demaille SG, et al. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro. Eur J Biochem. 2002;269(21):5149–5156
  31. Schmitt-Bernard CF, Schneider C, Argiles A. Clinical, histopathologic, and ultrastructural characteristics of BIGH3(TGFBI) amyloid corneal dystrophies are supportive of the existence of a new type of LCD: the LCDi. Cornea. 2002;21(5):463–468
  32. Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol. 1999;128(6):747–754
  33. Folberg R, Alfonso E, Croxatto JO, Driezen NG, Panjwani N, Laibson PR, et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. Ophthalmology. 1988;95(1):46–51
  34. Weidle E. Granualr corneal dystrophy: two variants. in: Ferraz de Oliveira F (Ed.). Ophthalmology today: Proceedings of the Eighth Congress of the European Society of Ophthalmology, Held in Lisbon, Portugal, 16–20 May 1988; Excerpta Medica, Amsterdam (International Congress Series No. 803) 1988. pp. 617–619.
  35. Seitz B, Weidle E, Naumann GO. Einseitige gittrige stromale Hornhautdystrophie Typ III (Hida). Klin Monatsbl Augenheilkd. 1993;203:279–285
  36. Hilda T, Tubota K, Kisgasawa K, Murata H, Ogata T, Akiya S. Clinical feathures of a newly diagnosed type of lattice corneal dystrophy. Am J Ophthalmol. 1978;104:241–248
  37. Hilda T, Proia AD, Kigasawa K, Sanfilippo FP, Burchette JL, Akiya S, et al. Histopathologic and immunochemilca features of lattice corneal dystrophy type III. Am J Ophthalmol. 1987;104:249–254
  38. Yamamoto S, Okada M, Tsujikawa K, Shimomuray Y, Nishida K, Inoue Y, et al. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62(3):719–722
  39. Stock EL, Feder RS, O’Grady RB, Sugar J, Roth SI. Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations. Arch Ophthalmol. 1991;109(3):354–358
  40. Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, et al. A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103(3):286–289
  41. Santos LN, Fernandes BF, de Moura LR, Cheema DP, Maloney S, Logan P, et al. Histopathologic study of corneal stromal dystrophies: a 10-year experience. Cornea. 2007;26(9):1027–1031
  42. Seitz B, Behrens A, Fischer M, Langenbucher A, Naumann GO. Morphometric analysis of deposits in granular and lattice corneal dystrophy: histopathologic implications for phototherapeutic keratectomy. Cornea. 2004;23(4):380–385
  43. Kobayashi A, Fujiki K, Fujimaki T, Murakami A, Sugiyama K. In vivo laser confocal microscopic findings of corneal stromal dystrophies. Arch Ophthalmol. 2007;125(9):1168–1173
  44. Cavanagh HD, Petroll WM, Alizadeh H, He YG, McCulley JP, Jester JV. Clinical and diagnostic use of in vivo confocal microscopy in patients with corneal disease. Ophthalmology. 1993;100(10):1444–1454
  45. Simpson T, Fonn D. Optical coherence tomography of the anterior segment. Ocul Surf. 2008;6(3):117–127
  46. Hrynchak P, Simpson T. Optical coherence tomography: an introduction to the technique and its use. Optom Vis Sci. 2000;77(7):347–356
  47. Efron N. Contact lens-induced changes in the anterior eye as observed in vivo with the confocal microscope. Prog Retin Eye Res. 2007;26(4):398–436
  48. Werner LP, Werner L, Dighiero P, Legeais JM, Renard G. Confocal microscopy in Bowman and stromal corneal dystrophies. Ophthalmology. 1999;106(9):1697–1704
  49. Minsky M. Memoir on inventing the confocal scanning mocroscope. Scanning. 1988;10:128–138
  50. Masters BR, Thaer AA. Real-time scanning slit confocal microscopy of the in vivo human cornea. Appl Opt. 1994;33:695–701
  51. Bohnke M, Masters BR. Confocal microscopy of the cornea. Prog Retin Eye Res. 1999;18(5):553–628
  52. Stave J, Zinser G, Grummer G, Guthoff R. Modified Heidelberg Retinal Tomograph HRT. Initial results of in vivo presentation of corneal structures. Ophthalmologe. 2002;99(4):276–280
  53. Chiou AG, Beuerman RN, Kaufman SC, Kaufman HE. Confocal microscopy in lattice corneal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1999;237(8):697–701
  54. Kobayashi A, Sakurai M, Shirao Y, Sugiyama K, Ohta T, Amaya-Ohkura Y. In vivo confocal microscopy and genotyping of a family with Thiel-Behnke (honeycomb) corneal dystrophy. Arch Ophthalmol. 2003;121(10):1498–1499
  55. Kobayashi A, Sugiyama K. In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bucklers corneal dystrophies). Ophthalmology. 2007;114(1):69–75
  56. Moller HU. Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bucklers’ corneal dystrophy (R-B). One entity?. Acta Ophthalmol (Copenh). 1989;67(6):678–684
  57. Malbran ES, Meijide RF, Croxatto JO. Atypical corneal dystrophy with stromal amyloid deposits. Cornea. 1988;7(3):210–213
  58. Folberg R, Stone EM, Sheffield VC, Mathers WD. The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study. Arch Ophthalmol. 1994;112(8):1080–1085
  59. Mashima Y, Nakamura Y, Noda K, Konishi M, Yamada M, Kudoh J, et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol. 1999;117(1):90–93
  60. Miura M, Mori H, Watanabe Y, Usui M, Kawana K, Oshika T, et al. Three-dimensional optical coherence tomography of granular corneal dystrophy. Cornea. 2007;26(3):373–374
  61. Wojtkowski M, Bajraszewski T, Targowski P, Kowalczyk A. Real-time in vivo imaging by high-speed spectral optical coherence tomography. Opt Lett. 2003;28(19):1745–1747
  62. Yasuno Y, Madjarova VD, Makita S, Akiba M, Morosawa A, Chong C, et al. Three-dimensional and high-speed-swept-source optical coherence tomography for in vivo investigation of human anterior segments. Opt Express. 2003;11:1179–1185
  63. Ripandelli G, Coppe AM, Capaldo A, Stirpe M. Optical coherence tomography. Semin Ophthalmol. 1998;13(4):199–202
  64. Wirbelauer C, Scholz C, Hoerauf H, Bastian GO, Engelhardt R, Birngruber R, et al. Examination of the cornea using optical coherence tomography. Ophthalmologe. 2001;98(2):151–156
  65. Radhakrishnan S, Rollins AM, Roth JE, Yazdanfar S, Westphal V, Bardenstein DS, et al. Real-time optical coherence tomography of the anterior segment at 1310nm. Arch Ophthalmol. 2001;119(8):1179–1185
  66. Meyer CH, Sekundo W. Evaluation of granular corneal dystrophy with optical coherent tomography. Cornea. 2004;23(3):270–271
  67. Kaluzny BJ, Szkulmowska A, Szkulmowska M, Bajraszewski T, Wawrocka A, Krawczynski MR, et al. Granular corneal dystrophy in 830-nm spectral optical coherence tomography. Cornea. 2008;27(7):830–832

☆ This manuscript was produced through work conducted as part of a Cornea and Contact Lens Residency Program at the University of Waterloo, Ontario, Canada.

PII: S1367-0484(09)00128-3

doi: 10.1016/j.clae.2009.09.005

Contact Lens & Anterior Eye
Volume 33, Issue 1 , Pages 33-40 , February 2010

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