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Fuchs’ Endothelial Dystrophy and Glaucoma

  • Blair Boehmer
  • Clark Springs
Chapter

Abstract

Fuchs’ Endothelial Dystrophy (FED) is a common disorder of the cornea that causes slow progressive endothelial degeneration with subsequent corneal edema and loss of vision in late stages. It is characterized by a thickened Descemet’s membrane (DM) from the aberrant deposition of wide-spaced collagen and the development of guttae, or posterior excrescences that represent projections of abnormal extracellular matrix between DM and endothelial cells. The bilateral, though asymmetric, condition often presents clinically between the fourth and seventh decades of life and is reported to have a female predominance as high as 3.5:1. Pedigree analysis reveals an autosomal dominant inheritance pattern with variable expressivity, although sporadic cases are also reported. While several hypotheses exist, the primary etiology of FED is unknown. Multiple studies have proposed an association between FED and glaucoma including primary open angle, angle closure, and other glaucomas. The relationships remain unclear.

Keywords

Trabecular Meshwork Angle Closure Anterior Chamber Depth Corneal Endothelium Angle Closure Glaucoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Adamis AP, Filatov V, Tripathi BJ, Tripathi RC. Fuchs’ endothelial dystrophy of the cornea. Surv Ophthalmol. 1993;38(2):149–167.CrossRefPubMedGoogle Scholar
  2. 2.
    Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, et al. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Invest Ophthalmol Vis Sci. 2005;46(12):4504–4511.CrossRefPubMedGoogle Scholar
  3. 3.
    Afshari NA, Pittard AB, Siddiqui A, Klintworth GK. Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty. Arch Ophthalmol. 2006;124(6):777–780.CrossRefPubMedGoogle Scholar
  4. 4.
    Rosenblum P, Stark WJ, Maumenee IH, Hirst LW, Maumenee AE. Hereditary Fuchs’ dystrophy. Am J Ophthalmol. 1980;90(4):455–462.PubMedGoogle Scholar
  5. 5.
    Buxton JN, Preston RW, Riechers R, Guibault N. Tonography in cornea guttata. Arch Ophthalmol. 1967;77(5):602–603.PubMedGoogle Scholar
  6. 6.
    Kolker AE, Hetherington J. Becker-Shaffer’s Diagnosis and Therapy of the Glaucomas. 4th ed. St. Louis: Mosby; 1976.Google Scholar
  7. 7.
    Roberts CW, Steinert RF, Thomas JV, Boruchoff SA. Endothelial guttata and facility of aqueous outflow. Cornea. 1984;3(1):5–9.CrossRefPubMedGoogle Scholar
  8. 8.
    Burns RR, Bourne WM, Brubaker RF. Endothelial function in patients with cornea guttata. Invest Ophthalmol Vis Sci. 1981;20(1):77–85.PubMedGoogle Scholar
  9. 9.
    Bramson T, Stenbjerg S. Fibrinolytic factors in aqueous humor and serum from patients with Fuchs’ dystrophy and patients with cataract. Acta Ophthalmol. 1979;57(3):470–476.Google Scholar
  10. 10.
    Wilson SE, Bourne WM, Maguire LJ, Rahhal FM, Ribaudo RK, et al. Aqueous humor composition in Fuchs’ dystrophy. Invest Ophthalmol Vis Sci. 1989;30(3):449–453.PubMedGoogle Scholar
  11. 11.
    Krachmer JH, Purcell JJ, Young CW, Bucher KD. Corneal endothelial dystrophy: a study of 64 families. Arch Ophthalmol. 1978;96(11):2036–2039.PubMedGoogle Scholar
  12. 12.
    Magovern M, Beauchamp GR, McTigue JW, Fine BS, Baumiller RC. Inheritance of Fuchs’ combined dystrophy. Ophthalmology. 1979;86(10):1897–1923.PubMedGoogle Scholar
  13. 13.
    Bigar F, Witmar R. Corneal endothelial changes in primary acute angle-closure glaucoma. Ophthalmology. 1982;89(6):596–599.PubMedGoogle Scholar
  14. 14.
    Pitts JF, Jay JL. The association of Fuchs’s corneal endothelial dystrophy with axial hypermetropia, shallow anterior chamber, and angle closure glaucoma. Br J Ophthalmol. 1990;74(10):601–604.CrossRefPubMedGoogle Scholar
  15. 15.
    Fuchs E. Dystrophia epithelialis corneae. Graefes Arch Clin Exp Ophthalmol. 1910;76(3):478–508.Google Scholar
  16. 16.
    Lowenstein A, Geyer O, Hourvitz D, Lazar M. The association of Fuchs’s corneal endothelial dystrophy with angle closure glaucoma. Br J Ophthalmol. 1991;75(8):510.CrossRefGoogle Scholar
  17. 17.
    Brooks AM, Grant G, Gillies WE. The significance of anterior chamber depth in Fuch’s corneal dystrophy and cornea guttata. Cornea. 1994;13(2):131–135.CrossRefPubMedGoogle Scholar
  18. 18.
    Sihota R, Lakshmaia C, Titiyal JS, Dada T, Agarwal HS. Corneal endothelial status in the subtypes of primary angle closure glaucoma. Clin Exp Ophthalmol. 2003;31:492–495.CrossRefGoogle Scholar
  19. 19.
    Wilson SE, Bourne WM. Fuchs’ dystrophy. Cornea. 1988;7(1):2–18.CrossRefPubMedGoogle Scholar
  20. 20.
    Borderie VM, Baudrimont M, Vallee A, Ereau TL, Gray F, et al. Corneal endothelial cell apoptosis in patients with Fuchs’ dystrophy. Invest Ophthalmol Vis Sci. 2000;41(9):2501–2505.PubMedGoogle Scholar
  21. 21.
    Li QJ, Ashraf FM, Shen D, Green RW, Satrk WJ, et al. The role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. Arch Ophthalmol. 2001;119(11):1597–1604.PubMedGoogle Scholar
  22. 22.
    Wang Z, Handa JT, Green WR, Stark WJ, Weinberg RS, et al. Advanced glycation end products and receptors in Fuchs’ dystrophy corneas undergoing Decemet’s stripping with endothelial keratoplasty. Ophthalmology. 2007;114(8):1453–1460.CrossRefPubMedGoogle Scholar
  23. 23.
    Jurkunas UV, Bitar MS, Rawe I, Harris DL, Colby K, et al. Increased clusterin expression in Fuchs’ endothelial dystrophy. Invest Ophthalmol Vis Sci. 2008;49(7):2946–2955.CrossRefPubMedGoogle Scholar
  24. 24.
    Jurkunas UV, Rawe I, Bitar M, Zhu C, Harris DL, et al. Decreased expression of peroxiredoxins in Fuchs’ endothelial dystrophy. Invest Ophthalmol Vis Sci. 2008;49(7):2956–2963.CrossRefPubMedGoogle Scholar
  25. 25.
    Szentmary N, Szende B, Suveges I. P53, CD95, cathepsin and survivin pathways in Fuchs’ dystrophy and pseudophakic bullous keratopathy corneas. Histol Histopathol. 2008;23:911–916.PubMedGoogle Scholar
  26. 26.
    Chen JZ, Kadlubar FF. A new clue to glaucoma pathogenesis. Am J Med.2003; 697–698.Google Scholar
  27. 27.
    Green K. Free radicals and aging of anterior segment tissues of the eye: a hypothesis. Ophthalmic Res. 1995;27(suppl 1):143–149.CrossRefPubMedGoogle Scholar
  28. 28.
    Kumarasamy NA, Lam FS, Wang AL, Theoharides TC. Glaucoma: current and developing concepts for inflammation, pathogenesis and treatment. Eur J Inflamm. 2006;4(3):129–137.Google Scholar
  29. 29.
    Yildirim O, Ates NA, Ercan B, Muslu N, Unlu A, et al. Role of oxidative stress enzymes in open angle glaucoma. Eye. 2005;19:580–583.CrossRefPubMedGoogle Scholar
  30. 30.
    Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Hum Mol Genet. 2008;17(5):656–666.CrossRefPubMedGoogle Scholar
  31. 31.
    Acott TS, Kelley MJ. Extracellular matrix in the trabecular meshwork. Exp Eye Res. 2008;86:543–561.CrossRefPubMedGoogle Scholar
  32. 32.
    Stamer DW, Snyder RW, Smith BL, Agre P, Regan JW. Localization of aquaporin CHIP in the human eye: implications in the pathogenesis of glaucoma and other disorders of ocular fluid balance. Invest Ophthalmol Vis Sci. 1994;35(11):3867–3872.PubMedGoogle Scholar
  33. 33.
    Kenney CM, Atilano SR, Zorapapel N, Holguin B, Gaster RN, et al. Altered expression of aquaporins in bullous keratopathy and Fuchs’ dystrophy corneas. J Histochem Cytochem. 2004;52(10):1341–1351.CrossRefPubMedGoogle Scholar
  34. 34.
    Stamer WD, Peppel K, O’Donnell ME, Roberts BC, Wu F, et al. Expression of aquaporin-1 in human trabecular meshwork cells: role in resting cell volume. Invest Ophthalmol Vis Sci. 2001;42(8):1803–1811.PubMedGoogle Scholar
  35. 35.
    Chatterton JE. RNAi-mediated inhibition of aquaporin 1 for treatment of IOP-related conditions; Patent No. 20080214486. United States, 2008.Google Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Blair Boehmer
    • 1
  • Clark Springs
    • 2
  1. 1.Department of OphthalmologyIndiana University School of MedicineIndianapolisUSA
  2. 2.Department of OphthalmologyIndiana UniversityIndianapolisUSA

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