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Article

Errors and Delays in Diagnosing Keratitis Fugax Hereditaria.

American journal of ophthalmology - 1 Jun 2025

Immonen Annamari T, Kawan Sabita, Backlund Michael P, Saaren-Seppälä Heikki, Kivelä Tero T, Turunen Joni A

Abstract excerpt

PURPOSE: To study errors and delays in diagnosing keratitis fugax hereditaria (KFH), an autosomal-dominant periodic corneal autoinflammatory disease caused by the NLRP3 variant c.61G>C, by reviewing the medical records of genetically confirmed Finnish patients with KFH and by determining the frequency of the c.61G>C variant in selected biobank samples. DESIGN: A retrospective cohort and a cross-sectional biobank...

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Identifiers

PMID: 40057011
DOI: 10.1016/j.ajo.2025.03.004

Genes

NLRP3

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