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Fabry Disease pp 299-306 | Cite as

The Eye in Fabry Disease

  • Andrea SodiEmail author
Chapter

Abstract

The more specific ocular manifestations of Fabry Disease (FD) are represented by corneal opacities (cornea verticillata), cataract, and conjunctival and retinal vascular abnormalities. Cornea verticillata is the most common ocular finding and consists of bilateral whorl-like opacities, located in the superficial corneal layers. These corneal opacities have been described in the large majority of the patients and so, at present, cornea verticillata is usually considered the most reliable ophthalmological marker of FD. Recently corneal deposits have been investigated by confocal microscopy, a diagnostic technology able to study the corneal structure layer by layer; this technique may provide more detailed information about the physiopathology of cornea verticillata and its changes with time. FD patients may also show a typical posterior subcapsular cataract with a ‘spoke-like’ appearance: this is a rare finding and cannot be routinely used for diagnosis and monitoring the disease. Conjunctival and retinal vessels tortuosity is very common but it is not specific of FD, as it can be observed in other vascular disorders. Moreover the evaluation of vessels tortuosity is very subjective and it can be difficult to quantify. Our group is presently developing a specific software for computer-assisted analysis of vessels tortuosity in digital fundus pictures.

Keywords

Cornea verticillata Vessels tortuosity Posterior subcapsular cataract 

References

  1. 1.
    Sodi A, Ioannidis A, Pitz S (2006) Ophthalmological manifestations of Fabry disease. In: Metha A, Beck M, Sunder-Plassman G (eds) Fabry disease. Perspective from 5 years of FOS. Oxford Pharmagenesis, Oxford, pp 249–261Google Scholar
  2. 2.
    Samiy N (2008) Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol 53(4):416–423PubMedCrossRefGoogle Scholar
  3. 3.
    Dufier JL, Gubler MC, Dhermy P, Lenoir G, Paupe J, Haye C (1980) La maladie de Fabry et ses manifestations ophthalmologiques. J Fr Ophthalmol 3:625–630Google Scholar
  4. 4.
    Spaeth GL, Frost P (1965) Fabry’s disease. Its ocular manifestations. Arch Ophthalmol 74:760–769PubMedCrossRefGoogle Scholar
  5. 5.
    Sher NA, Letson RD, Desnick RJ (1979) The ocular manifestations in Fabry’s disease. Arch Ophtahlmol 97:671–676CrossRefGoogle Scholar
  6. 6.
    Dua HS, Singh A, Gomes JA, Laibson PR, Donoso LA, Tyagi S (1996) Vortex or whorl formation of cultured human corneal epithelial cells induced by magnetic fields. Eye 10:447–450PubMedCrossRefGoogle Scholar
  7. 7.
    Mantyjarvi M, Tuppurainen K, Ikaheimo K (1998) Ocular side effects of Amiodarone. Surv Ophthalmol 42:360–366PubMedCrossRefGoogle Scholar
  8. 8.
    Dua HS, Gomes JA (2000) Clinical course of hurricane keratopathy. Br J Ophthalmol 84:285–288PubMedCrossRefGoogle Scholar
  9. 9.
    Weingeist TA, Blodi FC (1971) Fabry’s disease: ocular findings in a female carrier. A light and electron microscopy study. Arch Ophtahlmol 85:169–176CrossRefGoogle Scholar
  10. 10.
    François J, Hanssens M, Teuchy H (1978) Corneal ultrastructural changes in Fabry’s disease. Ophthalmologica 176(6):313–330PubMedCrossRefGoogle Scholar
  11. 11.
    Macrae WG, Ghosh M, McCulloch C (1985) Corneal changes in Fabry’s disease: a clinico-pathological case report of a heterozygote. Ophthalmic Pediatr Genet 5(3):185–190CrossRefGoogle Scholar
  12. 12.
    Hirano K, Murata K, Miyagawa A et al (2001) Histopathologic findings of cornea verticillata in woman heterozygous for Fabry’s disease. Cornea 20(2):233–236PubMedCrossRefGoogle Scholar
  13. 13.
    Riegel EM, Pokorny KS, Friedman AH et al (1982) Ocular pathology of Fabry’s disease in a Hemizygous male following renal transplantation. Surv Ophthalmol 26(5):247–252PubMedCrossRefGoogle Scholar
  14. 14.
    Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G (2002) Clinical features of Fabry’s disease in Australian patients. Intern Med J 32:575–584PubMedCrossRefGoogle Scholar
  15. 15.
    Orssaud C, Dufier JL, Germain DP (2003) Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalm Genet 24(3):129–139CrossRefGoogle Scholar
  16. 16.
    Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A (2005) Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry disease treatment centre. Clin Exp Ophthalmol 33:164–168CrossRefGoogle Scholar
  17. 17.
    Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest 34(3):236–242PubMedCrossRefGoogle Scholar
  18. 18.
    Sodi A, Ioannidis A, Metha A, Davey C, Beck M, Pitz S (2007) Ocular manifestations of Fabry disease: data from the Fabry outcome survey. Br J Ophthalmol 91:210–214PubMedCrossRefGoogle Scholar
  19. 19.
    Tsutsumi A, Uchida Y, Kanai T et al (1984) Corneal findings in a Foetus with Fabry’s disease. Acta Ophthalmologica 62:923–931PubMedCrossRefGoogle Scholar
  20. 20.
    Fumex-Boizard L, Cochat P, Fouilhoux A, Guffon N, Debips P (2005) Relation entre les manifestations ophtalmologiques et les atteintes générales chez dix patients atteints de la maladie de Fabry. J Fr Ophtalmol 28:45–50PubMedCrossRefGoogle Scholar
  21. 21.
    Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M (2004) The Mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65(4):299–307PubMedCrossRefGoogle Scholar
  22. 22.
    Andersen MVN, Dahl H, Fledelius H, Nielsen NV (1992) Central retinal artery occlusion in a patient with Fabry’s disease documented by scanning laser ophthalmoscopy. Acta Ophthalmologica 72:635–638CrossRefGoogle Scholar
  23. 23.
    Dantas MA, Fonseca RA, Kaga T, Yannuzzi RA, Spaide RF (2001) Retinal and choroidal vascular changes in heterozygous Fabry disease. Retina 21(1):87–89PubMedCrossRefGoogle Scholar
  24. 24.
    Abe H, Sakai T, Sawaguchi S et al (1992) Ischemic optic Neuropathy in a female carrier with Fabry’s disease. Ophthalmologica 205:83–88PubMedCrossRefGoogle Scholar
  25. 25.
    Jourdel D, Deefort-Dhelemmes S, Labalette P, Ryckewaert M, Hache JC (1998) Retinal pigment anomalies associated with Fabry’s disease. J Fr Ophtalmol 21:755–760PubMedGoogle Scholar
  26. 26.
    Shen YD, Yang CM, Huang JS (2007) Fabry disease manifesting as chronic uveitis-treated with enzyme replacemnt therapy. Eye 21:431–432PubMedCrossRefGoogle Scholar
  27. 27.
    Sodi A, Bini A, Mignani R, Minuti B, Menchini U (2009) Subfoveal choroidal neovascularization in a patient with Fabry’s disease. Int Ophthalmol 29:435–437PubMedCrossRefGoogle Scholar
  28. 28.
    Edwards JD, Bower KS, Brooks DB, Walter A (2009) Fabry disease and chemosis. Cornea 28(2):224–227PubMedCrossRefGoogle Scholar
  29. 29.
    Hauser A, Lorenz M, Voigtlander T, Fodinger M, Sunder-Plassmann G (2004) Results of an ophthalmological screening programme for identification of cases with Anderson-Fabry disease. Ophthalmologica 218:207–209PubMedCrossRefGoogle Scholar
  30. 30.
    Eng CM, Fletcher J, Wilcox WR et al (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J Inherit Metab Dis 30:184–192PubMedCrossRefGoogle Scholar
  31. 31.
    Mastropasqua L, Nubile M, Lanzini M, Carpineto P, Toto L, Ciancaglini M (2006) Corneal and conjunctival manifestations in Fabry disease: in vivo confocal microscopy study. Am J Ophthalmol 141:709–718PubMedCrossRefGoogle Scholar
  32. 32.
    Falke K, Buttner A, Schittkowski M, Stachs O, Kraak R, Zhivov A, Rolfs A, Guthoff R (2009) The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study. Graefes Arch Clin Exp Ophthalmol 247:523–534PubMedCrossRefGoogle Scholar
  33. 33.
    Orssaud C, Dufier JL, Germain DP (2003) Ocular manifesattions in Fabry disease: a survey of 32 hemizygous male patients. Opthalm Genet 24(3):29–139Google Scholar
  34. 34.
    Pitz S, Grube-Einwald K, Renieri A, Reinke J (2009) Subclinical optic neuropathy in Fabry disease. Ophthalm Genet 30:165–171CrossRefGoogle Scholar

Copyright information

© Springer Netherlands 2010

Authors and Affiliations

  1. 1.Eye Clinic, University of FlorenceFlorenceItaly

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