The von Hippel-Lindau syndrome is one of the hereditary phakomatoses. It is characterized by hamartomatous lesions which occur in the cerebellum, retina, and other organs. Lindau reported that 25% of patients with angiomatosis retinae have associated intracranial lesions. The per cent of patients with primary central nervous system lesions that also show associated retinal changes is not known.
This is a report of a fatal case with typical cerebellar involvement in which a small unsuspected retinal lesion was found at autopsy.
Report of Case
The patient, a 53-year-old white male, was one of a large family in which 22 other members exhibited von Hippel-Lindau syndrome or some other form of vascular hamartomatous abnormality. He was admitted to the University of California Hospital on Jan 29, 1961, with the chief complaint of headaches, but there were no eye symptoms. On physical examination, he was found to have signs of a midline
JOE S, SPENCER WH. von Hippel-Lindau Disease. Arch Ophthalmol. 1964;71(4):508-509. doi:10.1001/archopht.1964.00970010524014