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.
- Blau syndrome
- En face optical coherence tomography
- OCT angiography
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