Background: We describe a child with central retinal artery occlusion and hyperhomocysteinemia.
Methods: A 13-year-old girl developed sudden vision loss and was hospitalized for diagnosis and treatment.
Results: Her physical examination was normal except for her ophthalmologic examination. Her serum homocysteine level and lipoprotein(a) were elevated to 45.27 μmol/L and 61 mg/dL 0-29 mg/dL, respectively. A homozygous mutation was identified for methylenetetrahydrofolate reductase at position C677T.
Conclusion: This report documents central retinal artery occlusion associated with the risk factors of hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677 T mutation and high lipoprotein(a) level in a child. Retinal artery occlusion is rare in children. This patient emphasizes the need for a systemic evaluation for hyperhomocysteinemia and lipoprotein(a) levels in children with retinal vascular occlusion of uncertain etiology.
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