Birdshot chorioretinopathy without classic birdshot lesions: a multimodal imaging case series

To describe atypical presentations of HLA-A29-associated birdshot chorioretinopathy (BCR) in patients without classic cream-coloured birdshot lesions at presentation and to evaluate the contribution of multimodal imaging to the assessment of suspected early disease. Three patients (aged 48–57 years) presented with atypical posterior uveitis without the characteristic cream-coloured birdshot lesions typically associated with BCR. Multimodal imaging demonstrated optic disc leakage with or without retinal vasculitis on fluorescein angiography and choroidal abnormalities on indocyanine green angiography (ICGA), which were most pronounced in Cases 1 and 2. HLA-A29 positivity, together with comprehensive exclusion of infectious and inflammatory mimics supported the diagnosis. Clinical presentations included asymmetric disease and inflammatory choroidal neovascularisation initially misdiagnosed as neovascular age-related macular degeneration. All patients required stepwise escalation of treatment, including systemic corticosteroids, immunomodulatory therapy, biologic agents and intravitreal corticosteroids. This resulted in sustained inflammatory control and favourable visual outcomes during follow-up. These cases suggest that birdshot chorioretinopathy may occasionally be suspected before classic birdshot lesions become clinically apparent. In such patients, multimodal imaging, particularly ICGA may provide important supportive evidence of choroidal inflammation when interpreted alongside the clinical phenotype, HLA-A29 status and systematic exclusion of alternative diagnoses. Equivocal imaging findings should be interpreted cautiously and longitudinal follow-up may be required before a definitive diagnosis can be established. These observations highlight the value of integrating multimodal imaging into the evaluation of unexplained posterior uveitis while emphasising the need for cautious interpretation in atypical presentations.