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

Kavya JatavallabhulaOnyinye OnyiaDoug D ChungDominic WilliamsKaidi WangAnthony J Aldave
Published 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.
Keyphrases
  • nlrp inflammasome
  • early onset
  • case report
  • intellectual disability
  • genome wide
  • copy number