Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report
作者： Y. Bayezıt ŞAKALAR , Uğur KEKLİKÇİ , Kaan ÜNLÜ , İhsan ÇAÇA , Mehmet Fuat ALAKUŞ
DOI: 10.5336/MEDSCI.2010-17770
关键词:
摘要: A 19-year-old male patient presented with blurring of vision in his left eye. Central retinal vein occlusion was detected on ophthalmic examination. Clinical examination and labora - tory analysis were performed for risk factors predisposing him to occlusion. His plasma homocysteine concentration 14.30 U/mL. No other abnormalities found hema tologic tests. C677T heterozygous mutation the methylenetetrahydrofolate reductase (MTHFR) gene by real-time polymerase chain reaction. same patient's mother, father one sisters, also a homozygous sister. Retinal young patients may be related mild hy perhomocysteinemia MTHFR gene.
sci-hub.st 参考文章(10)
M. Norusis, J. Sora, N. Ruggie, Soo-Sang Kang, P. W. K. Wong, A. Susmano, Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. American Journal of Human Genetics. ,vol. 48, pp. 536- 545 ,(1991)
J. Larsson, B. Hultberg, A. Hillarp, Hyperhomocysteinemia and the MTHFR C677T mutation in central retinal vein occlusion. Acta Ophthalmologica Scandinavica. ,vol. 78, pp. 340- 343 ,(2000) , 10.1034/J.1600-0420.2000.078003340.X
Andrew K Vine, Hyperhomocysteinemia: a risk factor for central retinal vein occlusion. American Journal of Ophthalmology. ,vol. 129, pp. 640- 644 ,(2000) , 10.1016/S0002-9394(99)00476-6
S HAYREH, Central Retinal Vein Occlusion Ophthalmology Clinics of North America. ,vol. 11, pp. 559- 590 ,(1998) , 10.1016/S0896-1549(05)70079-1
Martin Weger, Olaf Stanger, Hannes Deutschmann, Werner Temmel, Wilfried Renner, Otto Schmut, Jürgen Semmelrock, Anton Haas, Hyperhomocyst(e)inemia and MTHFR C677T genotypes in patients with central retinal vein occlusion. Graefes Archive for Clinical and Experimental Ophthalmology. ,vol. 240, pp. 286- 290 ,(2002) , 10.1007/S00417-002-0431-9
Anat Loewenstein, Michaela Goldstein, Asher Winder, Moshe Lazar, Amiram Eldor, Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation Ophthalmology. ,vol. 106, pp. 1817- 1820 ,(1999) , 10.1016/S0161-6420(99)90357-3
Lorenzo Di Crecchio, Maurizio Battaglia Parodi, Giorgia Sanguinetti, Pierluigi Iacono, Giuseppe Ravalico, Hyperhomocysteinemia and the methylenetetrahydrofolate reductase 677C-T mutation in patients under 50 years of age affected by central retinal vein occlusion. Ophthalmology. ,vol. 111, pp. 940- 945 ,(2004) , 10.1016/J.OPHTHA.2003.08.028
Helga Refsum, PM Ueland, O Nygård, SE Vollset, Homocysteine and Cardiovascular Disease Annual Review of Medicine. ,vol. 49, pp. 31- 62 ,(1998) , 10.1146/ANNUREV.MED.49.1.31
Mark Cahill, Maria Karabatzaki, Ray Meleady, Helga Refsum, Per Ueland, Denis Shields, David Mooney, Ian Graham, Raised plasma homocysteine as a risk factor for retinal vascular occlusive disease British Journal of Ophthalmology. ,vol. 84, pp. 154- 157 ,(2000) , 10.1136/BJO.84.2.154
Robert Clarke, Leslie Daly, Killian Robinson, Eileen Naughten, Seamus Cahalane, Brian Fowler, Ian Graham, Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease New England Journal of Medicine. ,vol. 324, pp. 1149- 1155 ,(1991) , 10.1056/NEJM199104253241701