Retina/Uveitis Quiz 6

Rosa Y Kim, MD | Massachusetts Eye and Ear Infirmary, Harvard Medical School

July 22, 1996
Figure 1
Angiomatosis retinae (von Hippel-Lindau disease)

Case History
Goldberg and Koenig reported success in occluding small and medium-sized feeder arterioles but not the larger ones. Even the initially successful ones were not always permanent. Gass recommends direct treatment of the angiomas with laser without preliminary attempts to occlude the feeder vessels.

For tumors larger than 2 to 2.5 disc diameters in size or in which the media are not clear, cryotherapy is generally considered the treatment of choice, given the location permits use of this modality.
Questions and Answers
1. What is the diagnosis?
Answer: This is angiomatosis retinae in von Hippel-Lindau disease (retinal and cerebellar angiomatosis). The diagnostic criteria have expanded to include patients with any single manifestation of the syndrome complex provided that a CNS hemangioblastoma has been proved in the family.

2. What is the transmission pattern?
Answer: The disease is transmitted as an autosomal dominant trait with irregular penetrance.

3. What visceral involvement is associated with this diagnosis?
Answer: Renal cell carcinoma occurs in approximately one fourth of affected patients, and pheochromocytoma has been reported to occur in 3 to 10 percent of patients in published case series. Renal and pancreatic cysts are also associated with this disease.

4. What is the most common cause of death in patients with this diagnosis?
Answer: Cerebellar hemangioblastoma, which was present in approximately 60 percent of individuals in a study of 152 patients reported by Maher and coworkers, is considered the most common cause of death.

5. What treatment modalities have been used?
Answer: For small tumors less than 1 disc diameter in size, a single treatment of the surface of the angioma using multiple applications of moderately intense, long duration argon laser photocoagulation is generally effective.