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GTR Home > Conditions/Phenotypes > Keratitis fugax hereditaria

Keratitis fugax hereditaria

Synonyms
KERATOENDOTHELIITIS FUGAX HEREDITARIA

Summary

Keratoendotheliitis fugax hereditaria (KEFH) is an autosomal dominant corneal disease that periodically and fleetingly affects the corneal endothelium, stroma, and vision, eventually resulting in central corneal stromal opacities in some patients. The disease is characterized by episodes of unilateral ocular pain, pericorneal injection, and photophobia. The acute symptoms vanish in 1 to 2 days, but vision remains blurry for several weeks. Onset occurs between ages 3 and 12 years, and may involve either eye. Episodes generally decrease in frequency and become more mild with age (summary by Turunen et al., 2018). [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1, NLRP3
    Summary: NLR family pyrin domain containing 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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