| CASE REPORT |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 533-534 |
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Ocular manifestations of DiGeorge syndrome: A diagnostic dilemma
P Jayasri, Mary Stephen, Nirupama Kasturi, Anureet Kaur
Department of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
Correspondence Address:
P Jayasri
Department of Ophthalmology, JIPMER, Puducherry - 605 006
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/IJO.IJO_2729_22
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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.
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