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

Abstract excerpt

PURPOSE: To describe the phenotype and the genetic defect in keratoendotheliitis fugax hereditaria, an autosomal dominant keratitis that periodically affects the corneal endothelium and stroma, leading in some patients to opacities and decreased visual acuity. DESIGN: Cross-sectional, hospital-based study. METHODS: Patient Population: Thirty affected and 7 unaffected subjects from 7 families, and 4 sporadic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Inflammasome and immune disorders
• Share to Ocular Diseases and Behçet’s Syndrome