pseudoguttata

Keratoendotheliitis Fugax Hereditaria

Clinical Characteristics
Ocular Features: 

Recurrent ocular inflammatory episodes begin between the ages of 3 and 12 years (median age of onset 11 years).  These episodes can last from a few days to several weeks and may recur several times a year.  Episodes are milder and less frequent in older individuals.  There is often conjunctival hyperemia accompanied by pain, blurry vision, and photophobia during the acute phase.    In addition, the posterior stroma is edematous and hazy, pseudoguttata may be present, and some patients have a mild anterior chamber reaction.  Visual acuity is normal in most individuals but may be mildly reduced during acute attacks or rarely in older patients with central corneal opacities.  Occasional corneal erosions have been reported.  Between attacks the endothelial cells can appear normal.

Systemic Features: 

No systemic features have been found.

Genetics

Heterozygous mutations in the NLRP3 gene (1q44) encoding cryopyrin have been identified in European (Finnish) populations with this disorder.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment has been reported although some patients obtained improvement in symptoms with the use of oral NSAIDs and topical corticosteroids.

References
Article Title: 

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

Turunen JA, Wedenoja J, Repo P, Jarvinen RS, Jantti JE, Mortenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivela TT. 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. Am J Ophthalmol. 2018 Jan 20. pii: S0002-9394(18)30023-0. doi: 10.1016/j.ajo.2018.01.017. [Epub ahead of print].

PubMed ID: 
29366613
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