Purpose: To report familial cases of birdshot chorioretinopathy (BSCR).
Design: Retrospective, observational case series.
Methods: Five families with 2 members in each (10 patients) with BSCR were included in this case series from a cohort of 225 patients followed up for BSCR. A review of medical and angiographic records of familial cases of BSCR was performed. We described and compared in each family the histocompatibility leukocyte antigen (HLA) typing, age at onset, ethnic group, clinical features, fluorescein and indocyanine green angiography results, evolution of disease, and treatment used with efficiency.
Results: HLA-A29 and HLA-B44 results were positive in 100% of patients tested. Mean age at onset was 46.5 years. All patients were White. Corticosteroids were required in 7 patients, and 3 patients had no treatment because of mild or moderate lesions. Cyclosporine A was administered in 2 patients from the same family. Period of follow-up ranged from 1 to 32 years (median, 7 years).
Conclusions: Familial forms of BSCR remain rare and do not justify systematic examination in relatives of patients with BSCR.