Objective: To characterize the clinical course of retinal angiomatosis (RA) in von Hippel-Lindau (VHL) disease.
Design: Retrospective observational case series from a tertiary referral center.
Participants: Fifty-seven consecutive VHL disease patients with RA with a mean follow-up of 7.3 years.
Methods: A retrospective chart review was performed to characterize the clinical course and functional outcome of RA to substantiate ophthalmic screening recommendations for VHL disease patients.
Main outcome measures: Age and visual acuity (VA) at diagnosis, angioma number, size, fundus position and growth behavior, functional outcome, and risk factors for adverse visual outcome (VA < or =20/1000) were evaluated.
Results: The onset of RA was observed to occur between the ages of 5.5 and 62.5 years. Ocular disease was unilateral in 58% of patients at diagnosis; prevalence of bilateral RA as calculated by Kaplan-Meier analysis was 100% at age 56.4 years. Twenty-seven eyes showed an adverse visual outcome, occurring at a mean age of 23.2 years. Risk factors included large angiomas at presentation, first manifestation at a younger age, and symptomatic RA. In most eyes, development of new angiomas was slow and only small angiomas were detected on annual follow-up. Eyes harboring multiple angiomas or RA complicated by retinal detachment were at risk of developing large angiomas after short follow-up intervals. Formation of new angiomas was largely independent of patient age.
Conclusions: Retinal angiomatosis in VHL disease bears a high risk of severe vision loss at a young age. In uncomplicated RA, annual ocular screening for presymptomatic angiomas is sufficient. Because RA can occur at any age, lifelong ocular screening is recommended in VHL disease gene carriers starting at preschool age.