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Description

  • The Familial hereditary vision loss disease may present with symptoms including retinal detachment, folding, neovascularization, or vitreous hemorrhage due to peripheral retina avascularity.
  • The manifestation of FEVR genetically has been associated with a loss of function mutation of the Wnt/bcantenin-signaling pathway involving 7 genes (FZD4, NDP, CTNNB1, KIF11, LRP5, TSPAN12, and ZNF408). In our patient population of 72 individuals the distribution of FZD4 gene variants leading to FEVR has been recorded.
  • The Frizzled4 gene (FZD4) codes for the G-coupled protein receptor and effects Wnt/b-cantenin-signaling pathway In endothelial cells.
  • What frequency of FEVR from our patient pool will have FZD4 variants known to be protein altering? Will novel mutants of this gene have hereditary pathogenic effects?
  • Due to the variable severity of FEVR even within a single family, it is possible that having protein-altering variants in more than one of these FEVR-associated genes including FZD4 is a contributing factor to phenotypic variability. What is the frequency of Multigenic variants leading to FEVR?

Publication Date

5-2024

Keywords

hereditary vision loss disease

Disciplines

Neurology | Ophthalmology

Comments

The Embark Capstone Colloquium at the Oakland University William Beaumont School of Medicine, Rochester Hills, MI, May, 2024.

Targeted-Sequencing Evaluation for FZD4 Variants in Familial Exudative Vitreo-Retinopathy

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