Literature DB >> 22819238

Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.

Peter Karth1, Ravi Singh, Judy Kim, Deborah Costakos.   

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.
Copyright © 2012. Published by Mosby, Inc.

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Year:  2012        PMID: 22819238     DOI: 10.1016/j.jaapos.2012.04.003

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  4 in total

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Authors:  Faith Pangilinan; David Watkins; David Bernard; Yue Chen; Ningzheng Dong; Qingyu Wu; Hatice Ozel-Abaan; Manjit Kaur; Michele Caggana; Mark Morrissey; Marilyn L Browne; James L Mills; Carol Van Ryzin; Oleg Shchelochkov; Jennifer Sloan; Charles P Venditti; Kyriakie Sarafoglou; David S Rosenblatt; Denise M Kay; Lawrence C Brody
Journal:  Am J Med Genet A       Date:  2022-02-02       Impact factor: 2.578

  4 in total

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