Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically, and fleetingly, affects the corneal endothelium, stroma, and vision, eventually leading to central corneal stromal opacities in some patients. It has been reported that mutations in NLRP3 cause this disease. NLRP3 encodes cryopyrin, a member of the NLR family of proteins that are involved in the immune system. It is suggested that KEFH is the novel NLRP3-associated periodic autoinflammatory syndromes.
Turunen JA, Wedenoja J, Repo P, Jarvinen RS, Jantti JE, Mortenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivela TT
タイトル
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
