Advertisement

Fabry Disease with Ischemic Optic Neuropathy

  • An-Guor Wang
Chapter

Abstract

A 14-year-old boy went hiking on a mountain with an altitude of 3275 m. He felt periorbital discomfort and intermittent mosaic vision in both eyes. A sudden loss of vision in the left eye was noticed 3 days later. He visited a local hospital 1 week later. His best-corrected visual acuity was 6/6 in the right eye and hand motion at 20 cm in the left. He was unable to identify any plates with left eye using the Ishihara test, whereas the test was normal in the right eye. There was reported pain on eye movement. Faint epithelial opacity could be found in both corneas (Fig. 56.1). A relative afferent pupillary defect was found on the left side. A pale and swollen optic disc was found in the left eye (Fig. 56.2). Fluorescein angiography showed severely delayed filling of the left disc (Fig. 56.3). The visual field was near totally obscured in the left eye, and the visual evoked potential was poor on the left side. A peripheral blood examination including blood cell count, autoimmune profile, infectious agent, ESR, and CRP was negative. CT scan showed an enlarged left optic nerve with contrast enhancement (Fig. 56.4).

References

  1. 1.
    Rozenfeld PA. Fabry disease: treatment and diagnosis. IUBMB Life. 2009;61(11):1043–50.CrossRefPubMedGoogle Scholar
  2. 2.
    Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis. 2009;4:21.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105:151–6.CrossRefPubMedGoogle Scholar
  4. 4.
    Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–54.CrossRefPubMedGoogle Scholar
  5. 5.
    Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Samiy N. Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder. Surv Ophthalmol. 2008;53(4):416–23.CrossRefPubMedGoogle Scholar
  7. 7.
    Abe H, Sakai T, Sawaguchi S, Hasegawa S, Takagi M, Yoshizawa T, Usui T, Horikawa Y. Ischemic optic neuropathy in a female carrier with Fabry’s disease. Ophthalmologica. 1992;205(2):83–8.CrossRefPubMedGoogle Scholar
  8. 8.
    Bouheraoua N, Paques M, Basli E, Borderie V, Laroche L. Acute anterior ischemic optic neuropathy in a woman with Fabry’s disease. J Fr Ophtalmol. 2016;39(5):e119–21.CrossRefPubMedGoogle Scholar
  9. 9.
    Kumagai K, Mitamura Y, Mizunoya S, Fujimoto N, Yamamoto S. A case of anterior ischemic optic neuropathy associated with Fabry’s disease. Jpn J Ophthalmol. 2008;52(5):421–3.CrossRefPubMedGoogle Scholar
  10. 10.
    Schaefer RM, Tylki-Szymańska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs. 2009;69(16):2179–205.CrossRefPubMedGoogle Scholar
  11. 11.
    Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009;11(11):790–6.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • An-Guor Wang
    • 1
  1. 1.Department of OphthalmologyTaipei Veterans General Hospital, National Yang-Ming University School of Medicine, Yun-San Ophthalmology Education Research FoundationTaipeiTaiwan

Personalised recommendations