Case Study: July 2010

A 30 year old male presents with a phthisical left eye and undergoes enucleation. He has some lesions in his right eye that are under ophthalmic surveillance.

Figure 1 is a low power of the enucleation.
Figures 2, 3 and 4 are higher power shots of the arrowed lesion in Figure 1.


1. What does figure 2 and 3 show?

2. What does figure 4 show (arrow)?

3. What is the likeliest diagnosis?

4. Which immuno-stain will highlight the cells in Fig.4

5. What other history may you ask for form the clinicians?

Click to show answers
  1. A vascular neoplasm
  2. Foamy stromal cells between the vascular element.
  3. The combination of endothelial and foamy stromal cells makes this a retinal haemangioblastoma. The stromal cells are the neoplastic element.
  4. GFAP, CD56, S100 and anti-VEGF.
  5. This patient has Von Hippel Lindau disease (hence the lesions in the other eye).

The systemic manifestations are:

RETINA: haemangioblastoma
Peripheral nerves: haemangioblastoma
Kidney: cysts and renal cell carcinoma
Pancreas: cysts, microcystic adenoma and neuroendocrine tumours
Adenal gland/paraganglia: phaeochromocytoma / paraganglioma
Endolymphatic sac/duct: endolymphatic sac tumour
Epididymis: epididymal cystadenoma
Adnexae: cystadenoma
Other organs: cysts


WHO Classification of tumours of the central nervous system- IARC Press 3rd edition 2007, pages 215-217

Genotype-Phenotype Correlation in Ocular von Hippel-Lindau (VHL) Disease: The Effect of Missense Mutation Position on Ocular VHL Phenotype. Mettu P, Agron E, Samtani S, Chew EY, Wong WT. Invest Ophthalmol Vis Sci. 2010