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Keratoendotheliitis Fugax Hereditaria

OMIM ID:

autosomal dominant

Keratoendotheliitis Fugax Hereditaria

Alternate Names

keratitis fugax hereditaria
KEFH

Defective Genes

NLRP3

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

Inheritance

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

Pedigree

Autosomal dominant

Autosomal dominant disorders require only one mutation for the disease to be expressed.  Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease.  It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).

Image
Sample pedigree of autosomal dominant inheritance

Autosomal dominant inheritance leads to a vertical pattern of transmission

Treatment & Management

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

Selected Resources

Web Resources

Publications

Displaying 1 - 3 of 3

KERATITIS FUGAX HEREDITARIA

PubMedID: 14213210

Keratoendotheliitis fugax hereditaria: A clinical and specular microscopic study of a family with dominant inflammatory corneal disease

PubMedID: 3604606

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

PubMedID: 29366613