Cordarone keratopathyand Fabry disease: Differential diagnosis, treatment

Cover Page

Abstract


Cordarone keratopathy corresponds to medically induced corneal changes developing with time in a majority of patients against the background of systemic cordarone (amiodarone) therapy. This condition does threaten by substantial visual function decrease and does not demand medication withdrawal. Similar intraepithelial corneal inclusions may be found in treatment by several other medications, as well as in Fabry disease. This is to be reminded when considering differential diagnosis.

Sergey Yur'yevich Astakhov

Pavlov First State Medical University of Saint Petersburg

Email: astakhov73@mail.ru
MD, PhD, professor. Ophthalmology Department

Natal'ya Viktorovna Tkachenko

Pavlov First State Medical University of Saint Petersburg

Email: natalyatkachenko@yandex.ru
MD, PhD, assistant professor. Ophthalmology Department

Sanasar Surikovich Papanyan

Pavlov First State Medical University of Saint Petersburg

ophthalmologist

  1. Дактаравичене Е. Ю., Лукошявичюте А. И., Вашкелене И. И. и соавт. Амиодароновая кератопатия: Метод. Рекомендации. Каунас, 1985; 1-10.
  2. Ahn J., Wee W. R., Lee J. H., et al.Vortex keratopathy in a patient receiving vandetanib for non-small cell lung cancer. Korean J Ophthalmol. 2011;25 (5): P.355-7.
  3. Barraquer-Somers E., Chan C. C., Green W. R. Corneal epithelial iron deposition. Ophthalmology. 1983;90 (6): P.729-34.
  4. Beck M. Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther. 2009;9 (2): P.255-61.
  5. Chew E., Ghosh M., McCulloch C. Amiodarone-induced cornea verticillata. Can J Ophthalmol. 1982;17 (3): P.96-9.
  6. Chong E. M., Campbell R. J., Bourne W. M. Vortex keratopathy in a patient with multiple myeloma. Cornea. 1997;16 (5): Р.592-4.
  7. Ciancaglini M., Carpineto P., Zuppardi E., et al. In vivo confocal microscopy of patients with amiodarone-induced keratopathy. Cornea. 2001;20 (4): P.368-73.
  8. D’Amico D. J., Kenyon K. R., Ruskin J. N. Amiodarone keratopathy: drug-induced lipid storage disease. Arch Ophthalmol. 1981;99 (2): P.257-61.
  9. Desnick R. J., Brady R., Barranger J. et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138 (4): P.338-46.
  10. Dovie J. M., Gurwood A. S. Acute onset of halos and glare: bilateral corneal epithelial edema with cystic eruptions - atypical presentation of amiodarone keratopathy. Optometry. 2006;77 (2): P.76-81.
  11. Erdurmus M., Selcoki Y., Yagci R., et al. Amiodarone-induced keratopathy: full-thickness corneal involvement. Eye Contact Lens. 2008;34 (2): P.131-2.
  12. Falke K., Büttner A., Schittkowski M. et al.The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study. Graefes Arch Clin Exp Ophthalmol. 2009; 247 (4): P.523-34.
  13. Fleischer B. Über eine eigenartige bisher nicht bekannte Hornhauttrübung Albrecht Von. Graefes Arch Ophthalmol. 1910;77: Р.136-140.
  14. Font R. L., Fine B. S. Ocular pathology in fabry’s disease. Histochemical and electron microscopic observations. Am J Ophthalmol. 1972;73 (3): P.419-30.
  15. Franceschetti A. T. Cornea verticillata (Gruber) and its relation to Fabry’s disease (angiokeratoma corporis diffusum)].Ophthalmologica. 1968;156 (3): P.232-8.
  16. Hopkin R. J., Bissler J., Banikazemi M. et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64 (5): P.550-5.
  17. Hughes D. A., Mehta A. B. Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl. 2005;94 (447):28-33; discussion 9-10.
  18. Massi D., Martinelli F., Battini M. L. et al. Angiokeratoma corporis diffusum (Anderson-Fabry’s disease): a case report. J Eur Acad Dermatol Venereol. 2000;14 (2): P.127-30.
  19. Mastropasqua L., Nubile M., Lanzini M. et al. Corneal and conjunctival manifestations in Fabry disease: in vivo confocal microscopy study. Am J Ophthalmol. 2006;141 (4): P.709-18.
  20. Mehta A., Ricci R., Widmer U. Et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34 (3):236-42.
  21. Miller H. A. Keratopatie consecutive au traitement par cordarone. Bull Soc ophthalmol. 1969;69: P.1059-1060.
  22. Morel C. F., Clarke J. T. The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. Expert Opin Biol Ther. 2009;9 (5): P.631-9.
  23. Nakao S., Kodama C., Takenaka T. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003;64 (3):801-7.
  24. Ramaswami U., Whybra C., Parini R. et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006;95 (1):86-92.
  25. Samiy N. Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008 Jul-Aug;53 (4): P.416-23.
  26. Sher N. A., Letson R. D., Desnick R. J. The ocular manifestations in Fabry’s disease. Arch Ophthalmol. 1979;97 (4): P.671-6.
  27. Shin S. H., Murray G. J., Kluepfel-Stahl S. et al. Screening for pharmacological chaperones in Fabry disease. Biochem Biophys Res Commun. 2007;359 (1): P.168-73.
  28. Smid B. E., van der Tol L., Cecchi F. et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol. 2014;177 (2): P.400-8.
  29. Sodi A., Ioannidis A. S., Mehta A. et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey.Br J Ophthalmol. 2007; 91 (2): P.210-214.
  30. Sodi A., Bini A., Mignani R. et al. Subfoveal choroidal neovascularization in a patient with Fabry’s disease. Int Ophthalmol. 2009;29 (5): P.435-7.
  31. Szmyd L. Jr, Perry H. D. Keratopathy associated with the use of naproxen.Am J Ophthalmol. 1985;99 (5): P.598.
  32. Teich S. A., Handwerger S., Mathur-Wagh U. et al. Toxic keratopathy associated with suramin therapy. N Engl J Med. 1986; 29;314 (22): P.1455-6.
  33. Turdumambetova G., Bredehorn T., Duncker G. I. Ocular side-effects associated with amiodarone therapy. Klin Monbl Augenheilkd. 2005;222 (6): P.485-92.
  34. van der Tol L., Cassiman D., Houge G., et al. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17: Р.83-90.
  35. van der Tol L., Svarstad E., Ortiz A. et al. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab. 2015;114 (2): P.242-7.
  36. Wålinder P. E., Gip L., Stempa M. Corneal changes in patients treated with clofazimine. Br J Ophthalmol. 1976;60 (7): P.526-8.
  37. Wang R. Y., Lelis A., Mirocha J. et al. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9 (1): P.34-45.
  38. 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. 2011;249 (11): P.1689-96.
  39. Wijburg F. A., Bénichou B., Bichet D. G. et al. Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial. PLoS One. 2015;10 (5): e0124987.
  40. Wilcox W. R., Oliveira J. P., Hopkin R. J. et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93 (2): P.112-28.
  41. Yam G. H., Bosshard N., Zuber C. et al. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol. 2006;290 (4): C1076-82.
  42. Yeh S., Fine H. A., Smith J. A. Corneal verticillata after dual anti-epidermal growth factor receptor and anti-vascular endothelial growth factor receptor 2 therapy (vandetanib) for anaplastic astrocytoma. Cornea. 2009;28 (6): P.699-702.

Views

Abstract - 606

PDF (Russian) - 495

Cited-By


PlumX


Copyright (c) 2015 Astakhov S.Y., Tkachenko N.V., Papanyan S.S.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies