Subfoveal choroidal neovascularization in a patient with Fabry's disease.

INTRODUCTION

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.

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.