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Article

MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.

Ophthalmic genetics - 1 Feb 2023

Vanden Heuvel Claire, Aldred Breanna, Boulter Tyler, Sullivan Rachel, Ver Hoeve James, Schmitt Melanie

Abstract excerpt

BACKGROUND: Membrane frizzled-related protein (MFRP) plays a critical role in ocular development. MFRP mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve head (ONH) drusen. The broad clinical spectrum of MFRP mutations necessitates further investigation of specific genotype-phenotype relationships. MATERIALS AND METHODS: We reviewed ophthalmologic...

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Identifiers

PMID: 35880649
DOI: 10.1080/13816810.2022.2103835

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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