Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease.

The ocular manifestations of a large von Hippel-Lindau pedigree are presented. Of 24 persons with retinal angiomas, 18 are living and are the basis of this report. Nineteen of their 28 affected eyes were asymptomatic with 2 to 4 small tumours per eye. Nine eyes had lost vision secondary to exudative detachment. Seven of these had peripheral disease with rapid recurrences. Two had untreated disc tumours. Tumours less than 1 disc diameter (DD) in size were easily treated with photocoagulation. Multiple treatments of cryotherapy were required for larger tumours. Scleral buckle and early vitrectomy are recommended for vitreous traction. Tumour in a 4-year-old and a de-novo tumour in a 42-year-old lead us to recommend life-time surveillance of patients at risk. Many patients had false negative family histories. A review of the literature leads us to suspect that the majority of retinal angiomas are familial. We emphasize the ophthalmologist's responsibility to investigate such patients.