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

Issued Date

2020-02-01

Resource Type

Article

ISSN

19382405
01913913

DOI

10.3928/01913913-20191230-01

Other identifier(s)

2-s2.0-85078301964

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of Pediatric Ophthalmology and Strabismus. Vol.57, No.1 (2020), E4-E7

Suggested Citation

Patrick C. Staropoli, Nicolas A. Yannuzzi, Nimesh A. Patel, Catherin I. Negron, Supalert Prakhunhungsit, Audina M. Berrocal Novel frizzled-4 mutation is associated with familial exudative vitreoretinopathy mimicking persistent fetal vasculature. Journal of Pediatric Ophthalmology and Strabismus. Vol.57, No.1 (2020), E4-E7. doi:10.3928/01913913-20191230-01 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/58209

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Title

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

Author(s)

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

Other Contributor(s)

Bascom Palmer Eye Institute
 Faculty of Medicine, Siriraj Hospital, Mahidol University

Abstract

Copyright © 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).

Keyword(s)

Medicine

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/58209

Collections

Scopus 2020