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Case Reports in Ophthalmological Medicine
Volume 2014, Article ID 646351, 2 pages
Case Report

FEVR-Like Presentation of Homocystinuria

Bascom Palmer Eye Institute, University of Miami, 900 NW 17th Street, Miami, FL 33136, USA

Received 16 September 2014; Accepted 27 October 2014; Published 13 November 2014

Academic Editor: J. Fernando Arevalo

Copyright © 2014 Lorena A. Montalvo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. M. Homocystinuria, “Review of four cases,” The British Journal of Ophthalmology, vol. 55, no. 5, pp. 338–342, 1971. View at Google Scholar
  2. A. Tawfik, M. Al-Shabrawey, P. Roon et al., “Alterations of retinal vasculature in cystathionine-beta-synthase mutant mice, a model of hyperhomocysteinemia,” Investigative Ophthalmology & Visual Science, vol. 54, no. 2, pp. 939–949, 2013. View at Publisher · View at Google Scholar · View at Scopus
  3. M. Savarese, E. Spinelli, F. Gandolfo et al., “Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant,” Ophthalmic Genetics, vol. 35, no. 3, pp. 184–186, 2014. View at Publisher · View at Google Scholar
  4. A. M. Joussen, R. S. Gordes, F. A. Heußen, and B. Müller, “Retinal exudative disease in childhood: coats disease and familial exudative vitreoretinopathy (FEVR),” Klinische Monatsblatter fur Augenheilkunde, vol. 230, no. 9, pp. 902–913, 2013. View at Publisher · View at Google Scholar · View at Scopus
  5. C. Persa, K. Osmotherly, K. C.-W. Chen, S. Moon, and M. F. Lou, “The distribution of cystathionine β-synthase (CBS) in the eye: implication of the presence of a trans-sulfuration pathway for oxidative stress defense,” Experimental Eye Research, vol. 83, no. 4, pp. 817–823, 2006. View at Publisher · View at Google Scholar · View at Scopus
  6. K. S. McCully, “Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis,” The American Journal of Pathology, vol. 56, no. 1, pp. 111–128, 2013. View at Google Scholar
  7. S. Markand, A. Tawfik, Y. Ha et al., “Cystathionine beta synthase expression in mouse retina,” Current Eye Research, vol. 38, no. 5, pp. 597–604, 2013. View at Publisher · View at Google Scholar