Optometry - Journal of the American Optometric Association
Volume 81, Issue 9 , Pages 437-449 , September 2010

Ocular manifestations of Fabry disease within in a single kindred

  • Albert M. Morier, O.D., M.A.

      Affiliations

    • Albany Medical College, Albany, New York
    • Corresponding Author InformationCorresponding author: Albert M. Morier, O.D., 1426 Altamont Ave., Schenectady, New York 12303.
    • ,
  • John Minteer, O.D.

      Affiliations

    • Private practice, Peterborough, New Hampshire
    • ,
  • Robert Tyszko, O.D.

      Affiliations

    • Private practice, Peterborough, New Hampshire
    • ,
  • Rachel McCann, O.D.

      Affiliations

    • Private practice, Saratoga Springs, New York
    • ,
  • M. Virginia Clarke, R.N.

      Affiliations

    • Lysosomal Disease Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts
    • ,
  • Marsha F. Browning, M.D., M.P.H.

      Affiliations

    • Lysosomal Disease Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts
    • Harvard Medical School, Boston, Massachusetts

References 

  1. Anderson W. A case of “angiokeratoma.”. Br J Dermatol. 1898;10:113–117
  2. Fabry J. A contribution to the understanding of modular hemorrhagic purpura. Arch Dermatol Syphilis. 1898;43:187–200
  3. Staretz-Chacham O, Lang TC, LaMarca ME, et al. Lysosomal storage disorders in the newborn. Pediatrics. 2009;123:1191–1207
  4. Desnick R, Ioannou Y, Eng C, et al. alpha-Galactosidase A deficiency: Fabry disease. In:  Scriver CR,  Beaudet A,  Sly WS editor. The metabolic and molecular bases of inherited disease. 8th ed.. New York, New York: McGraw-Hill; 2001;3733–74
  5. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79:31–40
  6. Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008;17:79–83
  7. Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276:1163–1167
  8. Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006;43:347–352
  9. Gupta S, Ries M, Kotsopoulos S, et al. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine. 2005;84:261–268
  10. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112–128
  11. Wang RY, 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;9:34–45
  12. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008;372:1427–1435
  13. Bloomfield SE, David DS, Rubin AL. Eye findings in the diagnosis of Fabry's disease. Patients with renal failure. JAMA. 1978;240:647–649
  14. Franceschetti AT. Fabry disease: ocular manifestations. Birth Defects Orig Artic Ser. 1976;12:195–208
  15. Hauser AC, Lorenz M, Voigtlander T, et al. Results of an ophthalmologic screening programme for identification of cases with Anderson-Fabry disease. Ophthalmologica. 2004;218:207–209
  16. Libert J, Toussaint D. Tortuosities of retinal and conjunctival vessels in lysosomal storage diseases. Birth Defects Orig Artic Ser. 1982;18:347–358
  17. Mastropasqua L, Nubile M, Lanzini M, et al. Corneal and conjunctival manifestations in Fabry disease: in vivo confocal microscopy study. Am J Ophthalmol. 2006;141:709–718
  18. Nguyen TT, Gin T, Nicholls K, et al. Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. Clin Experiment Ophthalmol. 2005;33:164–168
  19. Orssaud C, Dufier J, Germain D. Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalmic Genet. 2003;24:129–139
  20. Samiy N. Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008;53:416–423
  21. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol. 1979;97:671–676
  22. Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol. 2007;91:210–214
  23. Spaeth GL, Frost P. Fabry's disease. Its ocular manifestations. Arch Ophthalmol. 1965;74:760–769
  24. Peters FP, Vermeulen A, Kho TL. Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001;357:138–140
  25. Dovie JM, Gurwood AS. Acute onset of halos and glare: bilateral corneal epithelial edema with cystic eruptions—atypical presentation of amiodarone keratopathy. Optometry. 2006;77:76–81
  26. Falke K, Buttner 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;247:523–534
  27. 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;34:236–242
  28. Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:184–192
  29. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry's disease. N Engl J Med. 2001;345:9–16
  30. Copt RP, Thomas R, Mermoud A. Corneal thickness in ocular hypertension, primary open-angle glaucoma, and normal tension glaucoma. Arch Ophthalmol. 1999;117:14–16
  31. La Rosa FA, Gross RL, Orengo-Nania S. Central corneal thickness of Caucasians and African Americans in glaucomatous and nonglaucomatous populations. Arch Ophthalmology. 2001;119:23–27
  32. Morrone A, Cavicchi C, Bardelli T, et al. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet. 2003;40:103
  33. Hughes DA, Mehta AB. Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl. 2005;94:28–33
  34. Abe H, Sakai T, Sawaguchi S, et al. Ischemic optic neuropathy in a female carrier with Fabry's disease. Ophthalmologica. 1992;205:83–88
  35. Sher NA, Reiff W, Letson RD, et al. Central retinal artery occlusion complicating Fabry's disease. Arch Ophthalmol. 1978;96:815–817
  36. Utsumi K, Yamamoto N, Kase R, et al. High incidence of thrombosis in Fabry's disease. Intern Med. 1997;36:327–329
  37. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769–775
  38. Whybra C, Wendrich K, Ries M, et al. Clinical manifestation in female Fabry disease patients. Contrib Nephrol. 2001;245–250
  39. Olivova P, van der Veen K, Cullen E, et al. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta. 2009;159–162
  40. Desnick RJ, Allen KY, Desnick SJ, et al. Fabry disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine and leukocytes. J Lab Clin Med. 1973;81:157–171
  41. Shabbeer J, Yasuda M, Luca E, et al. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. Mol Genet Metab. 2002;76:23–30

PII: S1529-1839(10)00248-4

doi: 10.1016/j.optm.2010.02.011

Optometry - Journal of the American Optometric Association
Volume 81, Issue 9 , Pages 437-449 , September 2010

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