von Hippel-Lindau disease

(redirected from Angiomatosis retinae)

von Hippel-Lindau disease

Molecular medicine An AD condition characterized by retinal angioma, CNS hemangioblastoma, renal cysts and CA, pheochromocytoma, pancreatic cysts, polycythemia 2º to ↑ erythropoietin production, epididymal cystadenoma.

Hippel disease

, von Hippel-Lindau disease (hip′ĕl) (von hip′ĕl-lin′dow″)
[Eugen von Hippel, Ger. ophthalmologist, 1867–1939; Arvid Lindau, Swedish pathologist, 1892–1958]
Angiomatosis of the retina and various areas of the body including the central nervous system, spinal cord, and visceral organs.

von Hippel-Lindau disease

An autosomal dominant genetic disorder with incomplete penetrance due to a mutation on chromosome 3. The principal feature is a single or multiple tumour of blood-forming tissue (haemangioblastoma) in the retina, the cerebellum, the brainstem or the spinal cord. These are highly vascular lesions that may grow dangerously at puberty or during pregnancy. Some secrete erythropoietin that leads to a large over-production of red blood cells. (Eugen von Hippel, 1867–1939, German ophthalmologist; and Arvid Lindau, b. 1892, Swedish pathologist).
References in periodicals archive ?
Studien uber kleinhirnzysten: bau, pathogenese und beziehungen zur angiomatosis retinae. Acta Pathol.
Uber Diffuse Gliose der Netzhout und ihre Beziehungen zu der Angiomatosis Retinae. Graefes Arch Clin Exp Ophthalmol.