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The Eye in Fabry Disease

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Fabry Disease

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.

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References

  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 249–261

    Google Scholar 

  2. Samiy N (2008) Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol 53(4):416–423

    Article  PubMed  Google Scholar 

  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 3:625–630

    CAS  Google Scholar 

  4. Spaeth GL, Frost P (1965) Fabry’s disease. Its ocular manifestations. Arch Ophthalmol 74:760–769

    Article  PubMed  CAS  Google Scholar 

  5. Sher NA, Letson RD, Desnick RJ (1979) The ocular manifestations in Fabry’s disease. Arch Ophtahlmol 97:671–676

    Article  CAS  Google Scholar 

  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 10:447–450

    Article  PubMed  Google Scholar 

  7. Mantyjarvi M, Tuppurainen K, Ikaheimo K (1998) Ocular side effects of Amiodarone. Surv Ophthalmol 42:360–366

    Article  PubMed  CAS  Google Scholar 

  8. Dua HS, Gomes JA (2000) Clinical course of hurricane keratopathy. Br J Ophthalmol 84:285–288

    Article  PubMed  CAS  Google Scholar 

  9. Weingeist TA, Blodi FC (1971) Fabry’s disease: ocular findings in a female carrier. A light and electron microscopy study. Arch Ophtahlmol 85:169–176

    Article  CAS  Google Scholar 

  10. François J, Hanssens M, Teuchy H (1978) Corneal ultrastructural changes in Fabry’s disease. Ophthalmologica 176(6):313–330

    Article  PubMed  Google Scholar 

  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):185–190

    Article  CAS  Google Scholar 

  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):233–236

    Article  PubMed  CAS  Google Scholar 

  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):247–252

    Article  PubMed  CAS  Google Scholar 

  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 32:575–584

    Article  PubMed  CAS  Google Scholar 

  15. Orssaud C, Dufier JL, Germain DP (2003) Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalm Genet 24(3):129–139

    Article  Google Scholar 

  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 33:164–168

    Article  Google Scholar 

  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):236–242

    Article  PubMed  CAS  Google Scholar 

  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 91:210–214

    Article  PubMed  Google Scholar 

  19. Tsutsumi A, Uchida Y, Kanai T et al (1984) Corneal findings in a Foetus with Fabry’s disease. Acta Ophthalmologica 62:923–931

    Article  PubMed  CAS  Google Scholar 

  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 28:45–50

    Article  PubMed  CAS  Google Scholar 

  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):299–307

    Article  PubMed  CAS  Google Scholar 

  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 72:635–638

    Article  Google Scholar 

  23. Dantas MA, Fonseca RA, Kaga T, Yannuzzi RA, Spaide RF (2001) Retinal and choroidal vascular changes in heterozygous Fabry disease. Retina 21(1):87–89

    Article  PubMed  CAS  Google Scholar 

  24. Abe H, Sakai T, Sawaguchi S et al (1992) Ischemic optic Neuropathy in a female carrier with Fabry’s disease. Ophthalmologica 205:83–88

    Article  PubMed  CAS  Google Scholar 

  25. Jourdel D, Deefort-Dhelemmes S, Labalette P, Ryckewaert M, Hache JC (1998) Retinal pigment anomalies associated with Fabry’s disease. J Fr Ophtalmol 21:755–760

    PubMed  CAS  Google Scholar 

  26. Shen YD, Yang CM, Huang JS (2007) Fabry disease manifesting as chronic uveitis-treated with enzyme replacemnt therapy. Eye 21:431–432

    Article  PubMed  Google Scholar 

  27. Sodi A, Bini A, Mignani R, Minuti B, Menchini U (2009) Subfoveal choroidal neovascularization in a patient with Fabry’s disease. Int Ophthalmol 29:435–437

    Article  PubMed  Google Scholar 

  28. Edwards JD, Bower KS, Brooks DB, Walter A (2009) Fabry disease and chemosis. Cornea 28(2):224–227

    Article  PubMed  Google Scholar 

  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 218:207–209

    Article  PubMed  Google Scholar 

  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 30:184–192

    Article  PubMed  CAS  Google Scholar 

  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 141:709–718

    Article  PubMed  Google Scholar 

  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 247:523–534

    Article  PubMed  Google Scholar 

  33. Orssaud C, Dufier JL, Germain DP (2003) Ocular manifesattions in Fabry disease: a survey of 32 hemizygous male patients. Opthalm Genet 24(3):29–139

    Google Scholar 

  34. Pitz S, Grube-Einwald K, Renieri A, Reinke J (2009) Subclinical optic neuropathy in Fabry disease. Ophthalm Genet 30:165–171

    Article  Google Scholar 

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Authors and Affiliations

  1. Eye Clinic, University of Florence, Florence, Italy

    Andrea Sodi

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  1. Andrea Sodi
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Correspondence to Andrea Sodi .

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Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Sodi, A. (2010). The Eye in Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_17

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_17

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  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-9032-4

  • Online ISBN: 978-90-481-9033-1

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