Ophthalmological approach in early-onset sarcoidosis/Blau Syndrome in a Colombian Child: a case report

Purpose: To report the ophthalmological approach of a Blau Syndrome (BS) case in
Colombia.
Observations: We report the case of a 9-year-old Colombian male patient with diagnosis of sporadic BS with de novo NOD2 (Nucleotide-binding oligomerization domain containing 2) mutation, who presented with joint and dermatologic symptoms. He consulted to uveitis service with only one functional-eye, due to retinal detachment on the affected eye. Despite treatment with corticosteroids, methotrexate and adalimumab, the patient continued with a progressive course of the disease.
Conclusion and importance: Blau uveitis is characterized by severe ocular morbidity.
Appropriate interdisciplinary approach is required for the correct identification and
management considering the inherent difficulty in its diagnosis due to its diverse clinical manifestations. The severity of Blau uveitis highlights the need for more effective
therapies.

Being a case report, it does not require ethics committee approval. The authors certify that they obtained the consent and informed assent of the patient. In these, the patient has given consent for their images and clinical information to be reported in the article. The patient understands that neither his name nor his initials will be published and an effort will be made to keep his identity private, however, anonymity cannot be guaranteed.