title: FANCONI ANEMIA PRESENTING AS BILATERAL DIFFUSE RETINAL OCCLUSIVE VASCULOPATHY.
abstract: OBJECTIVE
  To describe the ocular findings and subsequent workup of a 21-year-old woman with previously undiagnosed Fanconi anemia.
  
  
  METHODS
  Observational case report and literature review.
  
  
  RESULTS
  A 21-year-old healthy woman presented with bilateral retinal hemorrhages, telangiectasia, and severe ischemia with vascular leak. Systemic workup revealed anemia and thrombocytopenia. A diepoxybutane chromosomal breakage test confirmed the diagnosis of Fanconi anemia.
  
  
  CONCLUSIONS
  Ocular complications are common in patients with Fanconi anemia and may be the presenting manifestation of the disease.
authors.affiliation: *School of Medicine, Tulane University, New Orleans, Louisiana; †Department of Ophthalmology, California Pacific Medical Center, San Francisco, California; ‡West Coast Retina Medical Group, San Francisco, California; §Department of Ophthalmology, Stanford University School of Medicine, Stanford, California; and ¶The Francis I. Proctor Foundation, UCSF School of Medicine, San Francisco, California.
authors.forename: Matthew
authors.initials: M
authors.lastname: Denny
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Haug
authors.forename: Emmett T
authors.initials: ET
authors.lastname: Cunningham
authors.forename: J Michael
authors.initials: JM
authors.lastname: Jumper
mesh_terms: D003937:Diagnosis, Differential; D005199:Fanconi Anemia / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D055815:Young Adult