A clinical and molecular genetic analysis of solitary ocular angioma

Objectives: To determine whether ocular angioma can occur in the absence of von Hippel Lindau (VHL) syndrome, to define the clinical characteristics o f sporadic (non-VHL) angioma, and to estimate a prevalence for sporadic ocu lar angioma, Design and Participants: A cross-sectional study of a cohort of patients wi th apparent sporadic ocular angiomatosis recruited from throughout the Unit ed Kingdom. Intervention: Clinical details and a family history were obtained for the p atients in the cohort. Systematic ocular examination and further systemic s creening were performed on the patients and relatives when possible. Leukoc yte DNA was examined for VHL germline mutations. Main Outcome Measures: Patients with solitary and typical VHL-like ocular a ngioma, without clinical and family histories for VHL, were selected as pos sible sporadic (non-VHL) ocular angioma cases. An estimate of the populatio n prevalence of sporadic (non-VHL) ocular angioma was made from patients pr esenting in the East Anglian region of the United Kingdom over a 25-year pe riod, Results: From 32 patients referred, 17 had typical solitary ocular angioma and no evidence of other VHL complications in themselves or in family membe rs, 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 s uffered visual loss and 4 of 17 tumors occurred on the optic disc. The esti mated 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 53,0 00-300,000). Conclusions: Sporadic ocular angioma can occur in the absence of VHL diseas e but appears less prevalently than VHL itself. The age of presentation, de gree of visual morbidity, complications, morphology, and anatomic location of tumors are similar to those seen in VHL disease.