title: Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease.
abstract: BACKGROUND
  The aim of this study was to evaluate patients with solitary juxtapapillary capillary retinal angioma for the presence of von Hippel-Lindau disease (VHL).
  
  
  METHODS
  A retrospective case series of 11 patients, each presenting with a solitary juxtapapillary capillary retinal angioma, was examined. Patients were evaluated for type of angioma, presence of other VHL lesions, and mutations of the VHL gene.
  
  
  RESULTS
  Juxtapapillary angioma was exophytic in 7 patients and endophytic in 4 patients. VHL could be diagnosed in 7 patients (64%). Four patients were affected by VHL-related lesions as distinct from ocular angioma. A mutation of the VHL gene could be detected in 6 patients; in 1 of these patients, this mutation of the VHL gene was the only evidence of VHL. There was no difference in the age at manifestation or the type of juxtapapillary angioma in VHL patients compared with non-VHL patients.
  
  
  CONCLUSIONS
  A solitary juxtapapillary angioma may indicate the presence of VHL in a majority of patients, irrespective of the growth pattern of the tumour. Molecular genetic diagnostics is the most effective method of detecting VHL. Because of the high risk of the presence of other VHL lesions, thorough screening for VHL is mandatory for patients presenting with a solitary juxtapapillary angioma.
authors: Eye Centre, DRK Hospital Westend, Berlin, Germany. KMKreusel@aol.com
authors: Klaus-Martin
authors: KM
authors: Kreusel
authors: Nikolaos E
authors: NE
authors: Bechrakis
authors: Hartmut P H
authors: HP
authors: Neumann
authors: Dieter
authors: D
authors: Schmidt
authors: Michael H
authors: MH
authors: Foerster
mesh_terms: D000293:Adolescent; D000328:Adult; D002196:Capillaries; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005451:Fluorescein Angiography; D006391:Hemangioma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009898:Optic Disk / Q000098:blood supply*; D016133:Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human