Keratoendotheliitis fugax hereditaria

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.

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.

[citation needed] Older patients may show faint to definite central, horizontally oval, bilateral stromal opacities.

[1] Patients have reported benefit from immediate treatment of their attacks with a topical corticosteroid or non-steroidal anti-inflammatory drug (NSAID) applied a few times a day for up to one week.

[citation needed] The repeated corneal inflammation over time can lead to reduced visual acuity.

[citation needed] Keratoendotheliitis fugax hereditaria was first described in 1964 by Olavi Valle (1934–2013),[4] a Finnish ophthalmologist with an interest in hereditary eye diseases.