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Keratitis Fugax Hereditaria Associated With a Novel NLRP3 Mutation in a Non-Finnish Patient.

Cornea - 1 Feb 2024

Jatavallabhula Kavya, Onyia Onyinye, Chung Doug D, Williams Dominic, Wang Kaidi, Aldave Anthony J

Abstract excerpt

PURPOSE: The aim of this study was to report a novel heterozygous variant c.1712G>T (p.Gly571Val) in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain-containing 3 gene ( NLRP3 ) in a previously unreported non-Finnish individual with keratitis fugax hereditaria (KFH). METHODS: Ophthalmologic examination of the proband was performed with slit-lamp biomicroscopy and anterior segment optical...

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PMID: 37823852
DOI: 10.1097/ICO.0000000000003399

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