Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report

María Alejandra Marín-Noriega, Juliana Muñoz-Ortiz, Catalina Mosquera, Alejandra de-la-Torre

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Purpose: To report the ophthalmological approach of a patient with Blau syndrome (BS) in Colombia. Observations: We describe a 9-year-old Colombian boy with sporadic BS due to a de novo nucleotide-binding oligomerization domain containing 2 (NOD2) mutation, who presented with joint and dermatologic symptoms. He was referred to the uveitis service with a single functional eye, due to retinal detachment in the other eye. Despite treatment with corticosteroids, methotrexate, and adalimumab, the patient continued to exhibit progressive disease. Conclusion: BS-related uveitis is characterized by severe ocular morbidity. Appropriate interdisciplinary treatment is necessary for the correct identification and management of the disease, considering the inherent difficulty in its diagnosis due to its diverse clinical manifestations. The severity of BS-related uveitis in this report highlights the need for more effective therapies.

Original languageEnglish (US)
Article number100714
JournalAmerican Journal of Ophthalmology Case Reports
StatePublished - Jun 1 2020

All Science Journal Classification (ASJC) codes

  • Ophthalmology


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