Clinical and Molecular Features Associated with Cystic Visceral Lesions in Von Hippel-Lindau Disease

Simon RJ Taylor*, 1, 2, 3, 3, Jasmin Singh 4, Mandeep S Sagoo 4, 5, 6, Sue L Lightman 4, 5
1 Division of Immunology & Inflammation, Faculty of Medicine, Imperial College London, London, UK
2 Imperial College Healthcare NHS Trust, Hammersmith Hospital, Du Cane Road, London, UK
3 Royal Surrey County Hospital NHS Trust, Guildford, UK
4 Moorfields Eye Hospital, London, UK
5 UCL Institute of Ophthalmology, London, UK
6 Barts and the London NHS Trust, St. Bartholomew’s Hospital, West Smithfield, London, UK

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© Taylor et al.; Licensee Bentham Open.

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* Address correspondence to this author at the Imperial College London Faculty of Medicine, Room 5N8B, 5th Floor Commonwealth Building, Hammersmith Hospital, London W12 0NN, UK; Tel: +44 (0) 1483 464192; Fax: +44 (0) 1483 464189; E-mail:



Von Hippel-Lindau (VHL) is an uncommon oncogenic disorder which occurs as a result of genetic mutations on chromosome 3p. Retinal capillary haemangiomas and CNS haemangioblastomas have been well-characterised in genotypic-phenotypic analyses, but cystic visceral lesions are less common and have been less frequently studied. The aim of this study was to perform genotypic and phenotypic analysis of a cohort of VHL patients that developed cystic visceral lesions to determine whether their genotype differs from that seen in other manifestations of VHL and whether the ocular manifestations differ.


This study reports a prospective case series of twenty-one patients identified from the Hammersmith Hospital Genetics Service database as having VHL mutations. Patients underwent regular ocular and systemic screening as well as genotypic analysis. The main outcome measures were the development of VHL lesions, either ocular or systemic.


Cystic visceral lesions were detected in six of the 21 patients from the clinic (29%). These included renal cysts in four patients, pancreatic cysts in three patients, and an epididymal cystadenoma in one patient. Renal cysts were not associated with any specific genotype. Pancreatic cysts appeared to occur in association with VHL gene deletions and all developed CNS haemangioblastomas. Only one patient developed ocular manifestations, which occurred in this patient in the form of two retinal capillary haemangiomas.


VHL gene deletions appeared to be associated with pancreatic cysts and the development of CNS haemangioblastomas. Ocular manifestations are uncommon in this group of patients.

Keywords: von Hippel-Lindau, retinal capillary haemangioma, epididymal cyst, renal cyst, gene deletion.