title: Unusual ocular presentation of von Hippel-Lindau disease.
abstract: METHODS
  We report a young girl who first presented with a unilateral total exudative retinal detachment diagnosed as Coats' disease. Eight years later, when she presented with classical retinal hemangioblastomas with reduced vision in the fellow eye, the diagnosis of von Hippel-Lindau (VHL) disease was confirmed.
  
  
  CONCLUSIONS
  This case highlights the importance of considering the possibility of VHL in atypical cases of Coats' disease and unusual sporadic cases of unexplained unilateral exudative retinal detachment. The identification of VHL mutations and subsequent screening allows early diagnosis and treatment of asymptomatic retinal or central nervous system hemangioblastomas, as well as other malignancies associated with this syndrome.
authors.affiliation: Department of Ophthalmology and Visual Sciences, The Hospital for Sick Children, Toronto, Ont.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Valenzuela
authors.forename: Harriet
authors.initials: H
authors.lastname: Druker
authors.forename: David
authors.initials: D
authors.lastname: Malkin
authors.forename: Brenda
authors.initials: B
authors.lastname: Gallie
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D018325:Hemangioblastoma / Q000175:diagnosis*; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics; D012163:Retinal Detachment / Q000175:diagnosis; D019572:Retinal Neoplasms / Q000175:diagnosis*; D014786:Vision Disorders / Q000175:diagnosis; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
chemical_list: D012333:RNA, Messenger; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human