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Keratoendotheliitis fugax hereditaria is a … Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. 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. 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. Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes.o cryopyrin-associated periodic syndromes.
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Keratoendotheliitis fugax hereditaria is a … Keratoendotheliitis fugax hereditaria is an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the NLRP3 gene located on the long arm of chromosome 1. Keratoendotheliitis fugax hereditaria is thought to belong to cryopyrin-associated periodic syndromes.o cryopyrin-associated periodic syndromes.
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Keratoendotheliitis fugax hereditaria
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