Humans who have inherited the class I major histocompatibility allele HLA-A
29 have a markedly increased relative risk of developing the eye disease te
rmed birdshot chorioretinopathy. This disease affecting adults is character
ized by symmetrically scattered, small, cream-colored spots in the fundus a
ssociated with retinal vasculopathy and inflammatory signs causing damage t
o the ocular structures, leading regularly to visual loss. To investigate t
he role of HLA-A29 in this disease, we introduced the HLA-A29 gene into mic
e. Aging HLA-A29 transgenic mice spontaneously developed retinopathy, showi
ng a striking resemblance to the HLA-A29-associated chorioretinopathy. Thes
e results strongly suggest that HLA-A29 is involved in the pathogenesis of
this disease. Elucidation of the role of HLA-A29 should be assisted by this
transgenic model.