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By Niloofar Piri, MD
SSM Health Group, St Louis University
Co-author(s): Douglas Snyder, MD - Uploaded on Dec 5, 2020.
- Last modified by Caroline Bozell on Dec 8, 2020.
- Rating
- Appears in
- Miscellaneous
- Condition/keywords
- chorioretinal coloboma, optic nerve coloboma, retinal detachment
- Photographer
- Niloofar Piri MD, Douglas Snyder MD
- Imaging device
- Fundus camera
- Description
- 14-year-old female with 1q21.1 microdeletion syndrome and behavioral, intellectual, and systemic abnormalities, including congenital microcornea, iris coloboma, and chorioretinal and optic nerve coloboma presented with decreased vision. Right eye fundus taken with RetCam shows coloboma with retinal detachment. (Left eye showed white cataract with funnel RD on B-scan).