Retinal vascular hamartoma in von Hippel-Lindau disease
D. Schmidt and H. P. Neumann
Department of Ophthalmology, University Eye Hospital, Freiburg, Germany.
OBJECTIVE: To diagnose von Hippel-Lindau disease at an early stage in the
presence of atypical retinal lesions. DESIGN: Case series. METHODS: In an
11-year interdisciplinary clinical follow-up study of von Hippel-Lindau
disease, 52 patients with retinal angiomas were investigated. RESULTS:
Besides retinal angiomas, in five patients with von Hippel-Lindau disease
or in the close relatives of such patients, unusual retinal vascular
hamartomas other than retinal angiomas were detected. Retinal hamartomas
are characterized by small, moss fiber-like, relatively flat vascular
lesions with smooth and occasionally irregular margins and without enlarged
afferent and efferent vessels. They are located within the superficial
retina, usually adjacent to a retinal vein. In addition to typical
peripheral retinal angiomas, a 28-year-old man with a pheochromocytoma had
a treelike hamartoma. In another family, a brother and sister both had
circumscribed red hamartomas with irregular outlines close to the retinal
vessels. On fluorescein angiography, the early arterial filling of the
hamartomas in two of these patients was striking. CONCLUSION: It is prudent
to be aware of these unusual vascular retinal changes in von Hippel-Lindau
disease. They may occur in isolation without additional retinal angiomas
(as in four of our patients) but may suggest the presence of von
Hippel-Lindau disease.
