Intrafamilial variability of ocular manifestations of von Hippel-Lindau disease

ABSTRACT In this retrospective cohort study, we describe intrafamilial phenotypic variability of retinal hemangioblastoma (RH) in families with von Hippel-Lindau (VHL) disease. Patients with molecularly-confirmed VHL evaluated at our institution were identified and records reviewed. For individuals with sufficient follow up and imaging (n=27), number and location of RHs at the initial and most recent follow up visits were recorded along with treatment method and systemic manifestations. A strategy for zonal classification of RH location was used. Intrafamilial phenotypic variation was identified in 3 families. Intrafamilial phenotypic variability of RH exists between family members with VHL with the same genetic mutation.