title: Ophthalmic manifestations of Danon disease.
abstract: OBJECTIVE
  To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  Patients with genetically proven Danon disease.
  
  
  METHODS
  Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography.
  
  
  RESULTS
  Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium.
  
  
  CONCLUSIONS
  We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.
authors.affiliation: Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA.
authors.forename: F Ryan
authors.initials: FR
authors.lastname: Prall
authors.forename: Arlene
authors.initials: A
authors.lastname: Drack
authors.forename: Matthew
authors.initials: M
authors.lastname: Taylor
authors.forename: Lisa
authors.initials: L
authors.lastname: Ku
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Olson
authors.forename: Darren
authors.initials: D
authors.lastname: Gregory
authors.forename: Luisa
authors.initials: L
authors.lastname: Mestroni
authors.forename: Naresh
authors.initials: N
authors.lastname: Mandava
mesh_terms: D002386:Cataract / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D014794:Visual Fields
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins