Ophthalmic pathology of genotypically confirmed von Hippel Lindau disease type 1

• Published in: British journal of ophthalmology Vol. 90; no. 2; pp. 242 - 243
• Main Authors: Knapp, C M, Woodruff, G, Roberts, F
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.02.2006; BMJ Publishing Group LTD; BMJ Group
• Subjects: Cataracts; Cerebellar Neoplasms - pathology; Child; Family medical history; Fluorescein Angiography - methods; Genotype; Glaucoma; Hemangioblastoma - pathology; Humans; Letter; Male; Mutation; Optic Disk - pathology; Pathology; von Hippel Lindau disease; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjo.2005.079152

4 Since then many other mutations have been identified. 2 VHL is characterised by capillary haemangioblastomas of the eye and central nervous system, visceral lesions including renal cell carcinoma and phaeochromocytoma, and visceral cysts. 1, 5- 8 VHL can be classified phenotypically into VHL 1 (no association with phaeochromocytoma) and VHL 2 (associated with phaeochromocytoma). According to the diagnostic guidelines, VHL could only be diagnosed 10 years after presentation.