Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report.
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 laboratory analysis were performed for risk factors predisposing him to retinal vein occlusion. His plasma homocysteine concen...
| Publicado en: | Turkiye Klinikleri Journal of Medical Sciences Vol. 32; no. 4; pp. 1097 - 1101 |
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| Autores principales: | , , , |
| Formato: | case study diagnostic images Journal Article |
| Publicado: |
Turkiye Klinikleri
Aug2012
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104415900&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104415900 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 13000292 1VOP jtl: Turkiye Klinikleri Journal of Medical Sciences issn: 13000292 maglogo: N pubinfo: dt: Aug2012 vid: 32 iid: 4 pid: 67298 pub: Turkiye Klinikleri artinfo: ui: 104415900 2011681441 10.5336/medsci.2010-17770 104415900 ppf: 1097 ppct: 4 formats: fmt: @attributes: type: P tig: atl: Central Retinal Vein Occlusion Associated with Hyperhomocysteinemia in a Patient with Heterozygous for the Methylenetetrahydrofolate Reductase C677T Mutation: Case Report. aug: au: Sakalar, Y. Bayezit Keklikçi, Ugur Ünlü, Kaan Çaça, Ihsan affil: Department of Ophthalmology, Dicle University Faculty of Medicine, Diyarbakir sug: subj: Amino Acid Metabolism, Inborn Errors Familial and Genetic Genes Mutation Retinal Vein Occlusion Diagnosis Adult Male Adult: 19-44 years Male ab: 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 laboratory analysis were performed for risk factors predisposing him to retinal vein occlusion. His plasma homocysteine concentration was 14.30 U/mL. No other abnormalities were found in other hematologic tests. C677T heterozygous mutation in the methylenetetrahydrofolate reductase (MTHFR) gene was detected by real-time polymerase chain reaction. A heterozygous mutation was detected in the same gene in the patient's mother, father and one of his sisters, also a homozygous mutation was detected in the other sister. Retinal vein occlusion in young patients may be related to mild hyperhomocysteinemia and a C677T mutation in the MTHFR gene. pubtype: Academic Journal doctype: case study diagnostic images Journal Article ougenre: Article language: Turkish refInfo: holdings: @attributes: islocal: N |
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