Multigenerational case series highlights early diagnosis of Blau syndrome in a tuberculosis-endemic region, implying urgent ophthalmic intervention.
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.
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Jain et al. (2026) studied this question.
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