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von Hippel-Lindau Disease

von Hippel-Lindau Disease Abstract 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1964 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1964.00970010524014
Publisher site
See Article on Publisher Site

Abstract

Abstract 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

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Apr 1, 1964

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