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


METHODS
In FD, the presence of macular choroidal neovascularization (CNV) has never been previously described.


CONCLUSIONS
We report the case of a FD patient who developed an early-onset CNV, when he was still in his 40s.
Sodi
Andrea
A
Department of Ophthalmology, Careggi Universitary Hospital, 50134 Florence, Italy. asodi@tin.it
Bini
Alessandro
A
Mignani
Renzo
R
Minuti
Barbara
B
Menchini
Ugo
U
D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000209:etiology*; D002921:Cicatrix / Q000209:etiology / Q000473:pathology; D003315:Cornea / Q000473:pathology; D003318:Corneal Opacity / Q000209:etiology / Q000473:pathology; D000795:Fabry Disease / Q000150:complications* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005584:Fovea Centralis; D006801:Humans; D008266:Macula Lutea; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000150:complications / Q000209:etiology
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