Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.


Journal article


Can J Ophthalmol

Publication Date





276 - 283


Adolescent, Adult, Angiomatosis, Child, Child, Preschool, Eye Neoplasms, Female, Fluorescein Angiography, Humans, Middle Aged, Pedigree, Retinal Diseases, von Hippel-Lindau Disease