A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting sign.
Kreusel
Klaus-Martin
KM
Augenklinik Berlin-Marzahn, Berlin, Germany. KMKreusel@aol.com
Bechrakis
Nikolaos E
NE
Neumann
Hartmut P H
HP
Foerster
Michael H
MH
D000328:Adult; D001918:Brachytherapy; D001932:Brain Neoplasms / Q000175:diagnosis / Q000601:surgery; D018325:Hemangioblastoma / Q000175:diagnosis / Q000601:surgery; D018324:Hemangioma, Capillary / Q000175:diagnosis* / Q000235:genetics / Q000532:radiotherapy; D006801:Humans; D008025:Ligases / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000532:radiotherapy; D012429:Ruthenium Radioisotopes / Q000627:therapeutic use; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D014792:Visual Acuity; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics / Q000532:radiotherapy
D012429:Ruthenium Radioisotopes; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human