PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME

• Main Authors: Erika T. Friesen, Nopasak Phasukkijwatana, Irena Tsui, Meghan K. Berkenstock, Gary N. Holland, David Sarraf
• Other Authors: VA Greater Los Angeles Healthcare System
• Format: Article
• Published: 2019
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/46410
• Institution: Mahidol University

PURPOSE: To describe the multimodal retinal imaging findings of a case of Blau syndrome.METHODS: Case report. The multimodal retinal imaging findings, including widefield angiography, cross-sectional and en face spectral domain optical coherence tomography, and optical coherence tomography angiography, of a case of Blau syndrome are described.RESULTS: A 12-year-old Hispanic girl with polyarticular arthritis, skin rash, and panuveitis was diagnosed with a rare condition referred to as Blau syndrome. Genetic testing identified an NOD2 mutation. Cross-sectional and en face optical coherence tomography illustrated presumed perivascular granulomata in the middle retina. Optical coherence tomography angiography failed to display flow within these lesions.CONCLUSION: This report illustrates the presence of a remarkable distribution of perivascular, presumably granulomatous, retinal lesions in the middle retina. Similar perivascular granulomata have been noted in the histopathological analysis of ocular sarcoidosis.