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

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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Publication Details

Journal
Ocular Immunology and Inflammation
Published
2026-03-28
DOI
https://doi.org/10.1080/09273948.2026.2651789
Primary Topic
Sarcoidosis and Beryllium Toxicity Research
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Sumeet Singla, Parul Jain, Vanditaa Agrrawal, Sunidhi Rauthan et al.
Ocular Immunology and Inflammation
Sarcoidosis and Beryllium Toxicity Research
article

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

Sumeet Singla, Parul Jain, Vanditaa Agrrawal, Sunidhi Rauthan, Nita Khurana
article en

Abstract

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.

Ocular Immunology and Inflammation
Maulana Azad Medical College (IN), Guru Nanak Eye Centre (IN)
Zero hunger
Openalex Percentile: Top 3%
Sarcoidosis and Beryllium Toxicity Research
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