title: Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease.
abstract: OBJECTIVE
  To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION).
  
  
  METHODS
  Case report.
  
  
  RESULTS
  An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluorescein angiography revealed cilioretinal artery occlusion and AION. Systemic evaluations were unremarkable, except for a low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450-2000 pmol/spot*20 h). The patient was diagnosed with female carrier of Fabry disease.
  
  
  CONCLUSIONS
  Retinal vascular occlusions are rare in childhood, and Fabry disease may present with retinal vascular occlusion. Ophthalmological examinations may be contributing for early detection of the disease. To the best of our knowledge, this is the first report of a child female carrier of Fabry disease, complicated by cilioretinal artery occlusion and AION.
authors.affiliation: Istanbul Retina Institute, Hakkı Yeten Cad. Unimed Center No: 19/7, Fulya-Şişli, 34493, Istanbul, Turkey. m.girayersoz@gmail.com.
authors.forename: M Giray
authors.identifier: http://orcid.org/0000-0002-2336-0696
authors.initials: MG
authors.lastname: Ersoz
authors.affiliation: Department of Ophthalmology, Tepecik Education and Research Hospital, 35260, Izmir, Turkey.
authors.forename: Gamze
authors.initials: G
authors.lastname: Ture
mesh_terms: D002648:Child; D019842:Ciliary Arteries / Q000473:pathology*; D002924:Ciliary Body / Q000098:blood supply; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D009900:Optic Nerve / Q000098:blood supply*; D018917:Optic Neuropathy, Ischemic / Q000209:etiology*; D015356:Retinal Artery Occlusion / Q000209:etiology*
keywords: Anterior ischemic optic neuropathy; Cilioretinal artery occlusion; Fabry disease; Female carrier