Birdshot Chorioretinopathy causes severe, progressive inflammation of both the choroid and the retina. The name of the disease stems from the hypopigmentation pattern of the lesion on the retina, which resembles the impacts from a shotgun. Symptoms of Birdshot Chorioretinopathy include retinal vasculitis, particulate matter in the vitreous or vitreous inflammation, macular edema, flashing lights in the eyes, night blindness and loss of color vision. A frequent prognosis is complete loss of visual acuity.
The presence of HLA-A*29 alone is not sufficient for a diagnosis of Birdshot Chorioretinopathy, as there are many cases of patients who do not carry HLA-A*29. Nonetheless the strong association suggests that genetic testing for HLA-A*29 is useful as a supportive finding as part of the diagnosis.