Novel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculature

Patrick C. StaropoliNicolas A. YannuzziNimesh A. PatelCatherin I. NegronSupalert PrakhunhungsitAudina M. BerrocalBascom Palmer Eye InstituteFaculty of Medicine, Siriraj Hospital, Mahidol University2020-08-252020-08-252020-02-01Journal of Pediatric Ophthalmology and Strabismus. Vol.57, No.1 (2020), E4-E719382405019139132-s2.0-85078301964https://repository.li.mahidol.ac.th/handle/20.500.14594/58209Copyright © SLACK Incorporated 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).Mahidol UniversityMedicineNovel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculatureArticleSCOPUS10.3928/01913913-20191230-01