HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsPeter Karth, Ravi Singh, Judy Kim, Deborah Costakos
JournalJournal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (J AAPOS) Vol. 16 Issue 4 Pg. 398-400 (Aug 2012) ISSN: 1528-3933 [Electronic] United States
PMID22819238 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2012. Published by Mosby, Inc.
Chemical References
  • Receptors, Cell Surface
  • transcobalamin receptor
  • Vitamin B 6
  • Methylmalonic Acid
  • Hydroxocobalamin
Topics
  • Humans
  • Hydroxocobalamin (administration & dosage)
  • Hyperhomocysteinemia (complications, diagnosis)
  • Infant
  • Injections, Intramuscular
  • Male
  • Methylmalonic Acid (blood)
  • Mutation
  • Receptors, Cell Surface (genetics)
  • Retinal Artery Occlusion (diagnosis, etiology)
  • Tomography, Optical Coherence
  • Vision Disorders (diagnosis, etiology)
  • Vitamin B 12 Deficiency (genetics)
  • Vitamin B 6 (administration & dosage)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: