Top

Journal of Medical Case Reports

Published in:

Open Access 01-12-2015 | Case report

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

Authors: Shida Chen, Emily Y Chew, Chi-Chao Chan

Published in: Journal of Medical Case Reports | Issue 1/2015

Abstract

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.

Kaelin Jr WG. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer. 2002;2:673–82.CrossRefPubMed

Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. von Hippel-Lindau disease. Lancet. 2003;361:2059–67.CrossRefPubMed

Wong WT, Agron E, Coleman HR, Tran T, Reed GF, Csaky K, et al. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology. 2008;115:181–8.CrossRefPubMed

Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–8.CrossRefPubMed

Mottow-Lippa L, Tso MO, Peyman GA, Chejfec G. von Hippel angiomatosis. A light, electron microscopic, and immunoperoxidase characterization. Ophthalmology. 1983;90:848–55.CrossRefPubMed

Chan CC, Vortmeyer AO, Chew EY, Green WR, Matteson DM, Shen DF, et al. VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. Arch Ophthalmol. 1999;117:625–30.CrossRefPubMed

Singh AD, Shields CL, Shields JA. von Hippel-Lindau disease. Surv Ophthalmol. 2001;46:117–42.CrossRefPubMed

Wong WT, Yeh S, Chan CC, Kalina RE, Kinyoun JL, Folk JC, et al. Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease. Arch Ophthalmol. 2008;126:637–43.CrossRefPubMedPubMedCentral

Chan CC, Collins AB, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: a review. Retina. 2007;27:1–7.CrossRefPubMedPubMedCentral

10.

Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett 3rd WH. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology. 1992;99:140–5.CrossRefPubMed

11.

Benjamin LE, Keshet E. Conditional switching of vascular endothelial growth factor (VEGF) expression in tumors: induction of endothelial cell shedding and regression of hemangioblastoma-like vessels by VEGF withdrawal. Proc Natl Acad Sci U S A. 1997;94:8761–6.CrossRefPubMedPubMedCentral

12.

Haase VH, Glickman JN, Socolovsky M, Jaenisch R. Vascular tumors in livers with targeted inactivation of the von Hippel-Lindau tumor suppressor. Proc Natl Acad Sci U S A. 2001;98:1583–8.CrossRefPubMedPubMedCentral

13.

Los M, Aarsman CJ, Terpstra L, Wittebol-Post D, Lips CJ, Blijham GH, et al. Elevated ocular levels of vascular endothelial growth factor in patients with von Hippel-Lindau disease. Ann Oncol. 1997;8:1015–22.CrossRefPubMed

14.

Chan CC, Lee YS, Zhuang Z, Hackett J, Chew EY. Von Hippel-Lindau gene deletion and expression of hypoxia-inducible factor and ubiquitin in optic nerve hemangioma. Trans Am Ophthalmol Soc. 2004;102:75–9. discussion 79–81.PubMedPubMedCentral

15.

Wang Y, Abu-Asab MS, Shen D, Zhuang Z, Chew EY, Chan CC. Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. Graefes Arch Clin Exp Ophthalmol. 2014;252:1319–27.CrossRefPubMed

Title: Pathology characteristics of ocular von Hippel-Lindau disease with neovascularization of the iris and cornea: a case report
Authors: Shida Chen
Emily Y Chew
Chi-Chao Chan
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2015
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-015-0539-2

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Introduction

Case presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2015

High-dose methylprednisolone pulse therapy for treatment of refractory intestinal involvement caused by Henoch–Schönlein purpura: a case report

Chronic spinal cord injury treated with transplanted autologous bone marrow-derived mesenchymal stem cells tracked by magnetic resonance imaging: a case report

Spontaneous thoracic ventral spinal subdural hematoma mimicking a tumoral lesion: a case report

Castleman’s disease and sarcoidosis, a rare association resulting in a “mixed” response: a case report

Clozapine toxicity due to a multiple drug interaction: a case report

Bleeding and thrombosis in a patient with primary antiphospholipid syndrome using norethisterone: a case report