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NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.

Retinal cases & brief reports - 1 May 2023

Kovacs Kyle D, Van Tassel Sarah H, Gupta Mrinali P

Abstract excerpt

PURPOSE: To describe with multimodal imaging including the use of ultra-widefield optical coherence tomography imaging a distinct phenotype of autosomal recessive nanophthalmos associated with a novel mutation of the MFRP gene (membrane-type frizzled-related protein). METHODS: Case report of a single patient followed by the Weill Cornell Medicine Department of Ophthalmology Retina and Glaucoma Services, and...

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PMID: 34293777
DOI: 10.1097/ICB.0000000000001179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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NOVEL MFRP MUTATION WITH NANOPHTHALMOS, OPTIC DISK DRUSEN, AND PERIPHERAL RETINOSCHISIS IMAGED WITH ULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.PMID 34293777Read ↗

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