Objectives: To determine whether ocular angioma can occur in the absence of von Hippel Lindau (VHL) syndrome, to define the clinical characteristics of sporadic (non-VHL) angioma, and to estimate a prevalence for sporadic ocular angioma.
Design and participants: A cross-sectional study of a cohort of patients with apparent sporadic ocular angiomatosis recruited from throughout the United Kingdom.
Intervention: Clinical details and a family history were obtained for the patients in the cohort. Systematic ocular examination and further systemic screening were performed on the patients and relatives when possible. Leukocyte DNA was examined for VHL germline mutations.
Main outcome measures: Patients with solitary and typical VHL-like ocular angioma, without clinical and family histories for VHL, were selected as possible sporadic (non-VHL) ocular angioma cases. An estimate of the population prevalence of sporadic (non-VHL) ocular angioma was made from patients presenting in the East Anglian region of the United Kingdom over a 25-year period.
Results: From 32 patients referred, 17 had typical solitary ocular angioma and no evidence of other VHL complications in themselves or in family members. All 17 patients were negative for germline VHL mutations. The mean age of presentation was 30.9 years (median, 27.5; range, 3-52); 11 of 17 eyes suffered visual loss and 4 of 17 tumors occurred on the optic disc. The estimated prevalence of non-VHL ocular angioma was 9.0 x 10(-6), 95% confidence interval (CI) = 3.3 - 19 x 10(-6) (1 in 110,000 persons, 95% CI = 1 in 53,000-300,000).
Conclusions: Sporadic ocular angioma can occur in the absence of VHL disease but appears less prevalently than VHL itself. The age of presentation, degree of visual morbidity, complications, morphology, and anatomic location of tumors are similar to those seen in VHL disease.