Long-Term Observational Study of Birdshot Chorioretinopathy with Genetic Analysis Evaluating Visual Function and Disease Features in Adults

What this Trial Is About

Researchers are studying birdshot chorioretinopathy BCR, a rare inflammatory eye disease affecting both eyes, involving the retina and choroid. This disease is linked strongly to the HLA-A29 gene, but the causes and mechanisms are not fully understood. The study aims to analyze the clinical features and variations of BCR in patients, using various imaging methods and standardized tests to assess visual function and quality of life. It also plans to explore genetic factors beyond HLA-A29 by conducting a genome-wide association study to identify other genes related to BCR. This observational study follows patients diagnosed with birdshot chorioretinopathy who test positive for HLA-A29. Physicians will manage treatment independently based on inflammation severity and its impact on vision, while the study collects data without interfering with care. The study uses imaging techniques like fluorescein angiography and indocyanine green angiography to evaluate disease activity and lesion characteristics over time. Participants will undergo standardized visual assessments including visual acuity, visual field, and color vision testing, along with quality of life questionnaires VFQ-25. Researchers will monitor birdshot lesion size, number, location, pigmentation, edema, and retinal vasculitis during the study, which averages one year of follow-up. This comprehensive monitoring helps understand disease progression and its effects on vision and daily life.

Birdshot Chorioretinopathy : Prospective Follow-up and Immunogenetic Studies(CO-BIRD)