Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. J AAPOS 2012 Aug;16(4):398-400
Date
07/24/2012Pubmed ID
22819238DOI
10.1016/j.jaapos.2012.04.003Scopus ID
2-s2.0-84865488803 (requires institutional sign-in at Scopus site) 22 CitationsAbstract
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.
Author List
Karth P, Singh R, Kim J, Costakos DAuthor
Deborah M. Costakos MD Chair, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
HumansHydroxocobalamin
Hyperhomocysteinemia
Infant
Injections, Intramuscular
Male
Methylmalonic Acid
Mutation
Receptors, Cell Surface
Retinal Artery Occlusion
Tomography, Optical Coherence
Vision Disorders
Vitamin B 12 Deficiency
Vitamin B 6
