Blamires T L, Maher E R
Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.
Eye (Lond). 1992;6 ( Pt 1):90-2. doi: 10.1038/eye.1992.18.
A definite association between Von Hippel-Lindau [VHL] disease and choroid plexus tumour has not been described previously. A 24-year-old patient was found to have a choroid plexus tumour in the left cerebellopontine angle and involving the temporal bone. Examination of her fundi revealed bilateral retinal angiomatosis, thus making a diagnosis of von Hippel-Lindau disease. Later, an abdominal scan showed renal and pancreatic cysts. An important point is that molecular analysis of the choroid plexus tumour tissue showed chromosome 3 allele loss as described for other tumour types associated with von Hippel-Lindau disease.