Skip to main content
SpringerLink
Log in

Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy

  • Cornea
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Background

The aim of this work is to compare the microstructure of cornea verticillata in Fabry disease with amiodarone-induced keratopathy by means of in vivo confocal laser-scanning microscopy (CLSM).

Methods

Ten eyes of ten patients suffering from Fabry disease, six eyes of six patients with amiodarone-induced keratopathy and eight eyes of healthy control subjects were examined by conventional slit-lamp microscopy and CLSM. One Fabry patient received amiodarone therapy. All Fabry patients were under enzyme replacement therapy with agalsidase alfa.

Results

Seven out of ten Fabry patients and all patients receiving amiodarone showed typical cornea verticillata on slit-lamp examination. CLSM revealed hyper-reflective intracellular inclusions in basal epithelial cells of all Fabry patients with cornea verticillata and in one Fabry patient without slit-lamp-detectable vortex keratopathy, as well as in all eyes featuring amiodarone keratopathy. Amiodarone deposits were more reflective and of grossly different size. Seven Fabry patients and all amiodarone patients had stromal microdots. Two amiodarone patients showed amiodarone inclusions in the endothelium. The number of CLSM changes in Fabry patients did not correlate with that of slit-lamp detectable cornea verticillata.

Conclusions

While Fabry-induced cornea verticillata and amiodarone keratopathy cannot be distinguished by conventional slit-lamp microscopy, CLSM allows the differentiation between both etiologies in the majority of patients. CLSM appears to reveal corneal changes prior to the detection of cornea verticillata on slit-lamp microscopy and may thus be helpful in the early diagnosis of Fabry disease. CLSM does not allow quantitative monitoring of corneal changes in Fabry patients under enzyme-replacement therapy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

References

  1. Fleischer B (1910) Über eine eigenartige bisher nicht bekannte Hornhauttrübung Albrecht Von. Graefes Arch Ophthalmol 77:136–140

    Article  Google Scholar 

  2. Franceschetti AT (1968) La cornea verticillata et ses relations avec la maladie de Fabry. Ophthalmologica 156:232–238

    Article  PubMed  CAS  Google Scholar 

  3. Vom Dahl S, Wendel U, Strohmeyer G (2006) Genetisch bedingte Stoffwechselerkrankungen. Behandlung, Kosten, sozial-medizinische Aspekte. Deutsche Ärzte-Verlag Köln

  4. Samiy N (2008) Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol 53(4):416–23

    Article  PubMed  Google Scholar 

  5. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31–40

    Article  PubMed  CAS  Google Scholar 

  6. Tsutsumi A, Uchida Y, Kanai T, Tsutsumi O, Satoh K, Sakamoto S (1984) Corneal findings in a foetus with Fabry's disease. Acta Ophthal (Copenh) 62(6):923–931

    Article  CAS  Google Scholar 

  7. Hollander DA, Aldave AJ (2004) Drug-induced corneal complications. Curr Opin Ophthalmol 15(6):541–548

    Article  PubMed  Google Scholar 

  8. Greene HL, Graham EL, Werner JA, Sears GK, Gross BW, Gorham JP, Kudenchuk PJ, Trobaugh GB (1983) Toxic and therapeutic effect of amiodarone in the treatment of cardiac arrhythmias. J Am Coll Cardiol 2(6):1114–1128

    Article  PubMed  CAS  Google Scholar 

  9. Ucakhan ÖÖ, Kanpolat A, Yilmaz N, Özkan M (2005) Amiodarone keratopathy. An in vivo confocal microscopy study. Eye Contact Lens 31(4):148–157

    Article  PubMed  Google Scholar 

  10. Orlando RG, Dangel ME, Schaal SF (1984) Clinical experience and grading of amiodarone keratopathy. Ophthalmol 91(10):1184–1187

    CAS  Google Scholar 

  11. Stave J, Zinser G, Grümmer G, Guthoff R (2002) Der modifizierte Heidelberg-Retina-Tomograph HRT. Erste Ergebnisse einer In-vivo-Darstellung von kornealen Strukturen. Ophthalmol 99:276–280

    Article  CAS  Google Scholar 

  12. Falke K, Büttner 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(4):523–534

    Article  PubMed  Google Scholar 

  13. 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 Experiment Ophthalmol 33(2):164–8

    Article  PubMed  Google Scholar 

  14. Ciancaglini M, Carpineto P, Zuppardi E, Nubile M, Doronzo E, Mastropasqua L (2001) In vivo confocal microscopy of patients with amiodarone-induced keratopathy. Cornea 20(4):368–373

    Article  PubMed  CAS  Google Scholar 

  15. Weingeist TA, Blodi FC (1971) Fabry´s disease: ocular findings in a female carrier. Arch Ophthalmol 85(2):169–76

    PubMed  CAS  Google Scholar 

  16. Seiler KU, Thiel HJ, Wassermann O (1977) Die chloroquinkeratopathie als Beispiel einer arzneimittelinduzierten Phopholipidosis. Klin Monbl Augenheilkd 170(1):64–73

    PubMed  CAS  Google Scholar 

  17. 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(4):709–718

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany

    Joanna Wasielica-Poslednik, Norbert Pfeiffer & Susanne Pitz

  2. Department for Lysosomal Storage Disorders of the Children’s Hospital, University Medical Center of Johannes Gutenberg University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany

    Jörg Reinke

Authors
  1. Joanna Wasielica-Poslednik
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Norbert Pfeiffer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jörg Reinke
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Susanne Pitz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Joanna Wasielica-Poslednik.

Additional information

The authors are not supported by, nor maintain any financial interest in, any commercial activity that may be associated with the topic of this article.

Electronic supplementary material

Below is the link to the electronic supplementary material.

ESM 1

(DOC 28 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wasielica-Poslednik, J., Pfeiffer, N., Reinke, J. et al. Confocal laser-scanning microscopy allows differentiation between Fabry disease and amiodarone-induced keratopathy. Graefes Arch Clin Exp Ophthalmol 249, 1689–1696 (2011). https://doi.org/10.1007/s00417-011-1726-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00417-011-1726-5

Keywords

Search

Navigation