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. 2022 Jan;6(1):89-91.
doi: 10.1016/j.oret.2021.08.005. Epub 2021 Aug 18.

Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease

Randy Christopher Bowen  1 , H Culver Boldt  2 , Robert F Mullins  2 , Matthew G Field  1 , Louisa M Affatigato  2 , Jeremy M Hoffmann  2 , James C Folk  1 , Karen M Gehrs  1 , Ian C Han  2 , Elliott H Sohn  2 , Stephen R Russell  2 , Edwin M Stone  2 , Budd A Tucker  2 , Elaine M Binkley  3
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Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease

Randy Christopher Bowen et al. Ophthalmol Retina. 2022 Jan.

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 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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Figures

Figure 1.
Figure 1.
Family 1 with mild phenotype in the right eye of a 61-year-old (A) compared with severe phenotype in the right eye of a 60-year-old (B). The patient in B had coexisting retinopathy of prematurity resulting in temporally dragged fovea; however, the chorioretinal scars in the figure are due to treated retinal hemangioblastomas (RHs). Family 2 with mild phenotype in the left eye of a 53-year-old (C) compared with severe phenotype in the left eye of a 33-year-old (D). Family 3 with mild phenotype in the right eye of a 52-year-old (E) compared with severe phenotype in the right eye of a 48-year-old who underwent pars plana vitrectomy with placement of silicone oil due to RH-induced tractional retinal detachment (F).
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