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April 15, 2024Journal of VitreoRetinal Diseases

Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12

Andrew Tsai R.V. Paul Chan Michael P. Blair Michael J. Shapiro

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Abstract

To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course.

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Tsai et al. (2024) studied this question.

synapsesocial.com/papers/68e6f16cb6db64358766c0c8 https://doi.org/10.1177/24741264241246864

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Unveiling novel <i>LRP5</i> pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo2024 · 2 citations
2Pre-term Familial Exudative Vitreoretinopathy: A Novel Nonsense LRP5 Mutation2024 · 1 citations
3Coats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel <i>LRP5</i> Variant2024
4A novel <i>TSPAN12</i> mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy2025
5Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing2024 · 2 citations