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 history of retinal hemangioblastoma presented with neovascularization of his iris and cornea as well as corneal perforation. His right eye was blind and painful, leading to a decision of enucleation. On microscopy, the enucleated eye showed neovascularization of the cornea and iris. The cornea was perforated with an expulsive hemorrhage and extruding intraocular contents, including the retina. A large retinal hemangioblastoma was located at the posterior pole adjacent to the optic nerve head. The tumor was mainly composed of large cells with foamy cytoplasm. Bone formation was also present. CONCLUSION: Our pathology findings were consistent with previously described features of retinal hemangioblastoma. The present case is unusual because of the co-existing neovascularization in the iris and cornea, which may have led to corneal perforation and vision loss.