Metastatic
renal carcinoma is the third most common source of ocular and second most common source of orbital
metastases. This is the first published case of von Hippel-Lindau (vHL) disease that developed
renal cell carcinoma metastatic to an eye with a
retinal hemangioblastoma. A 73-year-old woman had a history of vHL disease that included prior
retinal hemangioblastomas, 2 cerebellar
hemangioblastomas, and bilateral
renal cell carcinomas with sacral
metastasis. After presenting with progressive, painful
proptosis secondary to a large mass observable by ocular CT, an enucleation-orbitotomy was performed, and the surgical specimen was sent for histopathological analysis. The ophthalmic renal metastatic
tumor, like the primary
tumor, was a clear cell variant that involved both the eyeball and orbit in continuity. The intraocular component was larger than the extraocular portion, which was interpreted as an outward extension of an initial
retinal metastasis that probably first settled within a
hemangioblastoma. Clusters of ectatic ghost vessels with thickened walls produced by
periodic acid Schiff-positive, redundant basement membrane material were partially infiltrated by
tumor cells at their periphery, thereby lending some support for this hypothesis. Immunohistochemical positivity for the
biomarkers cytokeratin 18,
vimentin,
carbonic anhydrase IX, PAX2, and PAX 8 confirmed the diagnosis. The patient has refused further treatment. Her anophthalmic socket has comfortably retained a porous
polyethylene implant without clinical evidence of local recurrence during 5 months of follow up.