Groundbreaking study broadens spectrum of cryopyrin-associated periodic syndromes
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.