Pathology characteristics of ocular von Hippel-Lindau disease with neovascularization of the iris and cornea: a case report

Pathology characteristics of ocular von Hippel-Lindau disease with neovascularization of the iris and cornea: a case report

INTRODUCTION Retinal hemangioblastoma is one of the most common tumors in von Hippel-Lindau disease. In addition to the classical pathological characteristics of von Hippel-Lindau disease, we report, for what we believe to be the first time, a severe and rare ocular complication characterized by neovascularization in the cornea and iris. CASE PRESENTATION A 41-year-old white man with a long h...

Pathology of the Nervous System in Von Hippel-Lindau Disease

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactiva...

Von Hippel-Lindau disease.

Von Hippel-Lindau Disease

A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...

[Von Hippel-Lindau disease].

In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...