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Keratitis fugax hereditaria is a recurrent, autosomal dominant corneal dystrophy characterized by transient peripheral arcus-like degeneration and central stromal opacification. Until now, all reported cases were of Finnish descent and associated with exon 1 variants in NLRP3. Clinical examination with slit-lamp biomicroscopy and anterior segment optical coherence tomography in a 52-year-old non-Finnish female proband revealed peripheral arcus-like degeneration and bilateral central corneal stromal opacification (HP:0001101; HP:0010059).
Genetic testing identified a novel heterozygous NLRP3 missense variant, c.1712G>T (p.Gly571Val), confirmed de novo as it was absent in both unaffected parents (1 proband) ([PMID:37823852]). No additional affected relatives were reported. Functional studies specific to corneal pathology are lacking. Given the single case and absence of segregation data, the evidence supports a Limited association.
Key Take-home: Awareness of NLRP3 genetic heterogeneity beyond Finnish cohorts informs diagnosis of keratitis fugax hereditaria in diverse populations.
Gene–Disease AssociationLimitedSingle unrelated proband with de novo missense variant and no additional segregation or functional data Genetic EvidenceLimitedOne case report; novel heterozygous missense variant c.1712G>T (p.Gly571Val) confirmed de novo ([PMID:37823852]) Functional EvidenceLimitedNo functional assays reported for corneal phenotype |