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Subfoveal choroidal neovascularization in a patient with Fabry’s disease

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Abstract

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.

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Acknowledgment

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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Authors and Affiliations

  1. Department of Ophthalmology, Careggi Universitary Hospital, Viale Morgagni 85, 50134, Florence, Italy

    Andrea Sodi, Alessandro Bini & Ugo Menchini

  2. Department Nephrology and Dialysis, Infermi Hospital, Rimini, Italy

    Renzo Mignani

  3. Department of Genetic Diagnosis, Careggi Universitary Hospital, Florence, Italy

    Barbara Minuti

Authors
  1. Andrea Sodi
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  2. Alessandro Bini
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  3. Renzo Mignani
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  4. Barbara Minuti
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  5. Ugo Menchini
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Corresponding author

Correspondence to Alessandro Bini.

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Sodi, A., Bini, A., Mignani, R. et al. Subfoveal choroidal neovascularization in a patient with Fabry’s disease. Int Ophthalmol 29, 435–437 (2009). https://doi.org/10.1007/s10792-008-9252-0

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  • DOI: https://doi.org/10.1007/s10792-008-9252-0

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