CIBA - Digital Grand Rounds - Answer/Discussion

CIBA Vision Ophthalmics - Digital Grand Rounds

Digital Grand Rounds Program - Answer/Discussion

The angiography shows a large retinal hemangioma, several of which were found in the left eye's periphery. These hemangiomas were the source of the hemorrhaging. This combined with the history of cerebellar tumor is enough to make the diagnosis of Von Hippel-Lindau Syndrome. This syndrome is an autosomal dominant condition that can present with cerebellar tumors, renal cysts, epididymal cysts, and syringomyelia, in addition to the retinal findings.
Differential diagnosis included last months condition, as well as Coat's disease. Because of the autosomal dominance, genetic counseling is important in these patients. It should be noted that there is incomplete penetrance, however.
Work-up of any siblings or children is important.
In this patient, the hemangiomas were treated to stop the bleeding.
For patients presenting for the first time with suspected Von Hippel-Lindau, it is important to have a very complete systemic work-up with MRI, CT scan, and other tests such as CBC, and urine tests for epinephrine and norepinephrine. Obviously, involvement of a neurosurgeon or neurologist is advised.
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