title: Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.
abstract: 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.
authors: Medical College of Wisconsin, 925 N. 87th Street, Milwaukee, Wisconsin, USA.
authors: Peter
authors: P
authors: Karth
authors: Ravi
authors: R
authors: Singh
authors: Judy
authors: J
authors: Kim
authors: Deborah
authors: D
authors: Costakos
mesh_terms: D006801:Humans; D006879:Hydroxocobalamin / Q000008:administration & dosage; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000175:diagnosis; D007223:Infant; D007273:Injections, Intramuscular; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood; D009154:Mutation; D011956:Receptors, Cell Surface / Q000235:genetics; D015356:Retinal Artery Occlusion / Q000175:diagnosis / Q000209:etiology*; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology; D014806:Vitamin B 12 Deficiency / Q000235:genetics; D025101:Vitamin B 6 / Q000008:administration & dosage
chemical_list: D011956:Receptors, Cell Surface; C028176:transcobalamin receptor; D025101:Vitamin B 6; D008764:Methylmalonic Acid; D006879:Hydroxocobalamin