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Article

Highly asymmetric early presentation of FEVR requiring enucleation.

Ophthalmic genetics - 1 Aug 2025

Zaslavsky Kirill, Vincent Ajoy, Ertl-Wagner Birgit Betina, Brundler Marie-Anne, Mallipatna Ashwin

Abstract excerpt

INTRODUCTION: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder characterized by abnormal retinal vascular development. While it typically presents in childhood, distinguishing it from retinoblastoma in young infants can be challenging, especially in cases with asymmetric and advanced manifestations. METHODS: Case report. RESULTS: A 2-month-old female with microcephaly and intrauterine...

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Identifiers

PMID: 39647854
DOI: 10.1080/13816810.2024.2427879

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CTNNB1

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