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Birdshot chorioretinopathy
Birdshot chorioretinopathy is a rare form of bilateral posterior uveitis affecting the eye. It causes severe, progressive inflammation of both the choroid and retina.
Affected individuals are almost exclusively caucasian and usually diagnosed in the fourth to sixth decade of their lives.
==Pathophysiology==
Birdshot chorioretinopathy is a rare form of posterior uveitis and accounts for 1-3% of uveitis cases in general. Birdshot chorioretinopathy is thought to be an autoimmune disease. The disease has strong association with the Human leukocyte antigen haplotype (HLA)-A29, which is the strongest association between a disease and HLA class I documented (85 to 97.5% of patients are HLA-A29 positive). This indicates a role for T-lymphocytes in the pathogenesis. Birdshot chorioretinopathy is associated with IL-17, a hallmark cytokine of TH17 cells that play an important role in autoimmunity . The disease affects typically middle-aged or elderly caucasians. HLA-A29 is less prevalent in Asia and no birdshot chorioretinopathy cases have been reported in Asia. When birdshot chorioretinopathy is suspected, a person is usually tested to determine if they are HLA-A29 positive. However, HLA-A29 testing is not considered necessary for definitive diagnosis because HLA-A29 is also common in the general healthy population (7%). Additional (genetic or environmental) or unknown factors may be associated with HLA-A29 in the pathogenesis.
In 2014, Kuiper et al conducted a genome-wide association study in birdshot chorioretinopathy and studied the entire genome of Dutch, Spanish and English patients. The GWAS identified, in addition to HLA-A29, the ''endoplasmic reticulum aminopeptidase (ERAP) 2'' gene strongly associated with birdshot chorioretinopathy. Genetic variants near ''ERAP2'' on chromosome 5 resulted in high mRNA and protein expression of this aminopeptidase in BSCR patients. ERAP2 is an aminopeptidase that, together with the closely related ERAP1, trims peptides in the endoplasmic reticulum and loads these peptides on HLA molecules for presentation to T cells of the immune system. ERAP-HLA associations have also been reported in Ankylosing spondylitis and Behcet's disease, suggesting shared pathogenic pathways among these diseases.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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