Keratoendotheliitis fugax hereditaria

Keratoendotheliitis fugax hereditaria
Other namesKeratitis fugax hereditaria
SpecialtyOphthalmology

Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin[1] (also known as NALP3) that in humans is encoded by the NLRP3 gene [2] located on the long arm of chromosome 1.[3]

In keratoendotheliitis fugax hereditaria, patients suffer from periodical transient inflammation of the corneal endothelium and stroma, leading to short term obscuration of vision and, in some patients after repeated attacks, to central corneal stromal opacities.[4][5][6] Approximately 50 known cases have been reported in the literature. The disease so far has only been described from Finland, but exome databases suggest it may be more widely distributed in people of European ancestry.[1]

Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes.

  1. ^ a b Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT (Jan 2018). "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". American Journal of Ophthalmology. 184: 41–50. doi:10.1016/j.ajo.2018.01.017. PMID 29366613.
  2. ^ Anon. (2015). "Entrez Gene: NLRP3 NLR family, pyrin domain containing 3 [Homo sapiens (human)], Gene ID: 114548 (updated on 13-Nov-2015)". Bethesda, MD, USA: National Center for Biotechnology Information, National Library of Medicine. Retrieved 13 November 2015.
  3. ^ Hoffman HM, Wright FA, Broide DH, Wanderer AA, Kolodner RD (May 2000). "Identification of a locus on chromosome 1q44 for familial cold urticaria". American Journal of Human Genetics. 66 (5): 1693–8. doi:10.1086/302874. PMC 1378006. PMID 10741953.
  4. ^ Valle O (1964). "Keratitis fugax hereditaria". Duodecim. 80: 659–664. PMID 14213210.
  5. ^ Valle O (1964). "Keratitis fugax hereditaria - a new eye syndrome". Ophthalmologica. 151 (5): 537–547. doi:10.1159/000304912. PMID 4380911.
  6. ^ Ruusuvaara P, Setälä K (1987). "Keratoendotheliitis fugax hereditaria. A clinical and specular microscopic study of a family with dominant inflammatory corneal disease". Acta Ophthalmol (Copenh). 65 (2): 159–169. doi:10.1111/j.1755-3768.1987.tb06995.x. PMID 3604606. S2CID 24146895.