Ocular manifestations of DiGeorge syndrome

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A 20-year-old woman with facial features of DiGeorge syndrome came for a regular ophthalmic examination. She had hypoparathyroidism with hypocalcemic tetany and severe anemia but no cardiac anomalies. On ophthalmic examination, the visual acuity was 6/6 OU. She had bilateral eyelid hooding, ptosis, esophoria, posterior embryotoxon, and dilated, tortuous vessels with disc edema in the fundus. Bilateral vascular tortuosity and disc edema could mimic established papilledema or plus disease, which has significant treatment implications. Hence knowledge of ocular and systemic features is essential in providing recommendations for DiGeorge syndrome.