Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease

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

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • DNA / genetics*
  • DNA Mutational Analysis
  • Disease Management*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology*
  • Retinal Diseases / therapy
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics*
  • Von Hippel-Lindau Tumor Suppressor Protein / metabolism
  • Young Adult
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics*

Substances

  • DNA
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human