title: Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): a case-series.
abstract: BACKGROUND
  Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, muco-cutaneous telangiectasias, and, in some cases, life-threatening visceral arteriovenous malformations. Ocular abnormalities include conjunctival telangiectasia, arteriovenous fistula, angiectasia, phlebectasia, and angioma.
  
  
  METHODS
  We describe the ocular abnormalities in 8 patients from a pedigree with hereditary hemorrhagic telangiectasia. This article also reviews and discusses the relevant literature.
  
  
  RESULTS
  Five patients (62.5%) had conjunctival telangiectasias and 3 (37.5%) retinal abnormalities, consisting mainly of choriocapillaris atrophy.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first report describing the occurrence of choriocapillaris atrophy in patients affected by hereditary hemorrhagic telangiectasia and belonging to the same pedigree.
authors.affiliation: Eye Clinic, Second University of Naples, Naples, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Rinaldi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Buscarini
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
authors.forename: Flavia
authors.initials: F
authors.lastname: Chiosi
authors.forename: Antonella
authors.initials: A
authors.lastname: De Benedictis
authors.forename: Antonio
authors.initials: A
authors.lastname: Porcellini
authors.forename: Ciro
authors.initials: C
authors.lastname: Costagliola
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics; D000368:Aged; D000369:Aged, 80 and over; D001165:Arteriovenous Malformations / Q000175:diagnosis; D003229:Conjunctival Diseases / Q000175:diagnosis* / Q000235:genetics; D004844:Epistaxis / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II