Keratitis Fugax Hereditaria Associated With a Novel NLRP3 Mutation in a Non-Finnish Patient.
Kavya JatavallabhulaOnyinye OnyiaDoug D ChungDominic WilliamsKaidi WangAnthony J AldavePublished in: Cornea (2023)
Although KFH has been reported only in individuals of Finnish descent and only in association with a missense mutation in exon 1 of NLRP3, we report an individual of non-Finnish descent with KFH associated with a novel heterozygous variant in exon 2 of NLRP3. Thus, ophthalmologists should be aware of the ethnic and genetic heterogeneity associated with KFH.