Abstract
Fabry disease (FD) is an X-linked, inherited disorder caused by a deficiency of the enzyme alpha-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. In FD, the presence of macular choroidal neovascularization (CNV) has never been previously described. 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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