TY - JOUR
T1 - PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME
AU - Friesen, Erika T.
AU - Phasukkijwatana, Nopasak
AU - Tsui, Irena
AU - Berkenstock, Meghan K.
AU - Holland, Gary N.
AU - Sarraf, David
N1 - Funding Information:
Supported in part by the Skirball Foundation, New York, NY (G.N. H.), and by an unrestricted grant to support research at the UCLA Stein Eye Institute from Research to Prevent Blindness, Inc, New York, NY.
Funding Information:
G. N. Holland has served on Advisory Boards for the following companies: Genentech, Inc; Novartis International AG; Santen, Inc; and XOMA (US) LLC. Dr. Sarraf is a consultant to Amgen, Inc, Bayer AG, Genentech, Inc, Novartis International AG, and Optovue, Inc, and receives research grants from Allergan, Plc, Heidelberg Engineering, Inc, Genentech, Inc, Optovue, Inc, and Regeneron Pharmaceuticals, Inc. The remaining authors have no conflicting interests to disclose.
Publisher Copyright:
© 2018 Lippincott Williams and Wilkins. All rights reserved.
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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.
KW - Blau syndrome
KW - En face optical coherence tomography
KW - Granulomata
KW - OCT angiography
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U2 - 10.1097/ICB.0000000000000662
DO - 10.1097/ICB.0000000000000662
M3 - Article
C2 - 29210964
AN - SCOPUS:85055610997
SN - 1935-1089
VL - 12
SP - S29-S32
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
IS - 1
ER -