title: Subfoveal choroidal neovascularization in a patient with Fabry's disease.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Careggi Universitary Hospital, 50134 Florence, Italy. asodi@tin.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Sodi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Bini
authors.forename: Renzo
authors.initials: R
authors.lastname: Mignani
authors.forename: Barbara
authors.initials: B
authors.lastname: Minuti
authors.forename: Ugo
authors.initials: U
authors.lastname: Menchini
mesh_terms: 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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