Researchers identify a novel periodic autoinflammatory syndrome: It's all about the eyes

(University of Helsinki) A research team from the University of Helsinki, Helsinki University Hospital and Folkhälsan Institute of Genetics in Helsinki, Finland, have identified a new genetic mutation that alters the function of cryopyrin and leads to a life-long periodic inflammation of the cornea, the transparent window of the human eye. Patients who carry the mutation also develop corneal opacities that compromise vision.