| A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant. |
