2011-04: Characterization of the role of HLA-A29 in Birdshot Chorioretinopathy.
Birdshot Chorioretinopathy is a rare but severe ocular disease. Despite strong association with Human Leukocyte Antigen-A29 (HLA-A29), the pathogenesis of BSCR is unknown. The goal of the study is to characterize and analyse the role of HLA-A29 in BSCR. By using a genetic, we will be able to identify the genetic factors associated with susceptibility and functional mechanisms underlying the pathogenesis of BSCR. We will characterize the entire genome and HLA-loci, including HLA-A29, of BSCR patients and generate a BSCR-haplotype that can be compared with open-source database of HLA-A29 healthy controls.