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

Abstract

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
Volume57
DOIs
StatePublished - Jan 24 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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