Subfoveal choroidal neovascularization in a patient with Fabry’s disease
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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.
Keywordsα-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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