Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease

Published:August 17, 2021DOI:
      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 were reviewed. For individuals with sufficient follow-up and imaging (n=27), the 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.
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