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Abstract #99359 Published in IGR 22-4

Central Retinal Vein Occlusion in 12-year-old Girl with Methylenetetrahydrofolate Reductase Mutation: A Case Report and Review of the Literature

Hudson JL; Laura DM; Berrocal AM
Retinal cases & brief reports 2023; 17: 734-736


PURPOSE: This case report describes a central retinal vein occlusion (CRVO) in a healthy 12-year-old girl who developed retinal neovascularization at 24 years of age. To our knowledge, this is the longest time between a reported pediatric CRVO event and neovascularization. METHODS: The patient underwent a full history, physical exam, and laboratory workup to determine potential risk factors contributing to the vascular event. Fundus photos, optical coherence tomography and fluorescein angiography were performed throughout the patient's treatment course. RESULTS: Family history was non-contributory, but laboratory testing revealed a mildly elevated homocysteine level and homozygous C677T mutation in methylenetetrahydrofolate reductase. As a result, she was started on folate supplementation. The patient has had no further ocular or systemic thrombotic events to date. CONCLUSION: Pediatric patients presenting with CRVO should undergo a systemic workup and require long-term follow-up to avoid complications such as intraocular hemorrhage, tractional retinal detachments, and neovascular glaucoma.

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, 900 NW 17 Street, Miami, Florida, USA 33136.

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15 Miscellaneous



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