Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.

Abstract excerpt

A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation. Retinal arterial occlusion is uncommon in young patients and typically prompts a systemic workup. In cases of atypical retinal arterial occlusion, hyperhomocysteinemia should be investigated.

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