International Ophthalmology

, Volume 29, Issue 5, pp 435–437 | Cite as

Subfoveal choroidal neovascularization in a patient with Fabry’s disease

  • Andrea Sodi
  • Alessandro Bini
  • Renzo Mignani
  • Barbara Minuti
  • Ugo Menchini
Case Report


Introduction Fabry disease (FD) is an X-linked, inherited disorder caused by a deficiency of the enzyme α-galactosidase A, with progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ophthalmological manifestations include conjunctival vessel tortuosity, cornea verticillata, lens opacity, and retinochoroidal vessel abnormalities. Report In FD, the presence of macular choroidal neovascularization (CNV) has never been previously described. Discussion We report the case of a FD patient who developed an early-onset CNV, when he was still in his 40s.


α-Galactosidase A Choroidal neovascularization Fabry disease Macular disease 



Funding and Proprietary Interest: This study was partially funded by a grant from the Cassa di Risparmio di Firenze Foundation, Florence, Italy.

Proprietary interest: none


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • Andrea Sodi
    • 1
  • Alessandro Bini
    • 1
  • Renzo Mignani
    • 2
  • Barbara Minuti
    • 3
  • Ugo Menchini
    • 1
  1. 1.Department of OphthalmologyCareggi Universitary HospitalFlorenceItaly
  2. 2.Department Nephrology and DialysisInfermi Hospital RiminiItaly
  3. 3.Department of Genetic DiagnosisCareggi Universitary HospitalFlorenceItaly

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