Novel Frizzled-4 Mutation Is Associated With Familial Exudative Vitreoretinopathy Mimicking Persistent Fetal Vasculature

Patrick C. Staropoli, Nicolas A. Yannuzzi, Nimesh A. Patel, Catherin I. Negron, Supalert Prakhunhungsit, Audina M. Berrocal

Research output: Contribution to journalArticle


This is a report of a 13-month-old boy who presented with a large unilateral fibrovascular stalk and bilateral peripheral retinal avascularity. Although consistent with both persistent fetal vasculature and familial exudative vitreoretinopathy, genetic testing disclosed a novel pathogenic mutation in the frizzled class receptor 4 gene (FZD4, c.427_428delCT). [J Pediatr Ophthalmol Strabismus. 2020;57:e4-e7.].

Original languageEnglish (US)
Pages (from-to)e4-e7
JournalJournal of pediatric ophthalmology and strabismus
StatePublished - Jan 24 2020


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this