Familial Granulomatous Uveitis with Arthritis Suggestive of Blau Syndrome: A Multigenerational Case Series from India

Purpose Blau syndrome is a rare autosomal dominant autoinflammatory disorder characterized by granulomatous dermatitis, arthritis, and uveitis resulting from gain-of-function mutations in the NOD2 gene. In India, the condition is frequently underrecognized or misdiagnosed due to significant clinical overlap with juvenile idiopathic arthritis associated uveitis and early onset sarcoidosis. Reports of familial Blau syndrome are rare. This report describes familial granulomatous uveitis suggestive of Blau syndrome, with emphasis on ocular manifestations, diagnostic challenges and treatment outcomes in the absence of genetic testing. Methods A mother and her two children presenting with variable combinations of arthritis, cutaneous lesions and ocular inflammation were evaluated. Detailed ophthalmic examination, systemic assessment, laboratory investigations, tuberculosis screening, and histopathologic analysis were performed. Diagnostic reasoning was based on clinicopathologic correlation and familial clustering. Results Granulomatous uveitis was identified in the mother and the elder child, with the mother exhibiting advanced disease likely due to delayed diagnosis and treatment. Skin biopsy in the elder child demonstrated well-formed non-caseating epithelioid granulomas with negative acid-fast bacilli staining. All three patients were treated with methotrexate, with adjunct corticosteroids as required. Ocular inflammation remained quiescent on follow-up, with stabilization of visual function in the affected eyes. Conclusion This family illustrates the classic yet variably expressed ocular phenotype suggestive of Blau syndrome. The report highlights the role of ophthalmologists in early recognition of the disease, particularly in tuberculosis-endemic regions. Early diagnosis and prompt immunomodulatory therapy are essential to prevent irreversible visual morbidity, especially when genetic testing is not readily available.