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

ABSTRACT:

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

SUBMITTER: Marin-Noriega MA 

PROVIDER: S-EPMC7178324 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature