Document Detail

Branch retinal artery occlusion associated with compound heterozygous genotype for methylenetetrahydrofolate reductase.
MedLine Citation:
PMID:  17357807     Owner:  NLM     Status:  MEDLINE    
We present a case in which mfERG and OCT helped to make a diagnosis of an old BRAO in the setting of compound heterozygous MTHFR genotype. A 44-year-old woman presented for evaluation of a 10 month history of persistently cloudy vision OS. She had been worked up previously for MS versus BRAO, and she was on coumadin, folate, and multivitamin at the time of presentation. The patient has a fraternal twin sister who was diagnosed with MS. Dilated fundus examination OS showed subtle inferior optic atrophy with slight narrowing of the inferotemporal retinal artery, and HVF test revealed a superonasal depression OS. mfERG also showed superonasal depression OS. Retinal origin of the chief complaint was further confirmed by OCT, which showed thinning of the NFL in the corresponding region of the retina OS. Coagulopathy evaluation revealed C677T/A1298C compound heterozygous genotype for MTHFR, and plasma homocysteine level after 6 months of folate and multivitamin supplementation was 10 microM (reference range 4-10 microM). The patient was diagnosed with BRAO and maintained on coumadin therapy.
Martin Heur; Gregory S Kosmorsky; Neal S Peachey; Elisa Bala
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2007-03-15
Journal Detail:
Title:  Documenta ophthalmologica. Advances in ophthalmology     Volume:  114     ISSN:  0012-4486     ISO Abbreviation:  Doc Ophthalmol     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-27     Completed Date:  2007-08-23     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0370667     Medline TA:  Doc Ophthalmol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  163-8     Citation Subset:  IM    
Cole Eye Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
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MeSH Terms
Homocysteine / blood
Hyperhomocysteinemia / genetics*
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Genetic*
Retinal Artery Occlusion / diagnosis,  genetics*
Tomography, Optical Coherence
Visual Fields
Grant Support
Reg. No./Substance:
454-28-4/Homocysteine; EC Reductase (NADPH2)

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