Birdshot retinochoroidopathy associated with HLA-A29 antigen and immune responsiveness to retinal S-antigen

Antigen HLA-A29 was present in 16 of 20 patients (80%) with birdshot retinochoroidopathy, but only in 31 of 418 controls (7.4%) (P less than .0001). The relative risk for this disease in persons possessing HLA-A29 antigen was 49.9, one of the highest reported. Of the 20 patients, 13 were also tested for evidence of an in vitro mitotic immune response to purified retinal S-antigen. Of these, 12 (92.3%) responded to the purified preparation, whereas one responded only to a crude retinal homogenate. The histopathologic and clinical findings in an eye from one of the responders to the S-antigen were similar to those in the disease induced in monkeys with the S-antigen. Our findings suggested that birdshot retinochoroidopathy has a genetic predisposition and that retinal autoimmunity, resulting from the S-antigen or other retinal antigens, plays a role in the manifestation of this disease.