Methylenetetrahydrofolate reductase gene mutation in a 16-year-old girl with combined central retinal vein occlusion/cilioretinal artery occlusion

Retin Cases Brief Rep. 2007 Summer;1(3):134-7. doi: 10.1097/01.ICB.0000279641.53583.66.


Purpose: This case report describes combined central retinal veincilioretinal artery occlusion in a 16-year-old healthy girl. To our knowledge, our patient is the youngest described so for in the MEDLINE literature.

Methods: The patient underwent a full history, physical examination, and extensive laboratory studies to determine the potential risk factors leading to her vascular occlusion.

Results: Her family history was significant for multiple miscarriages and early cerebrovascular events. Laboratory testing revealed a compound heterozygous mutation (C677T and A1298C) in the methylenetetrahydrofolate reductase (MTHFR) gene and an elevated factor VIII level. As a result of her ocular occlusive event, abnormal hypercoagulable findings, and family history, the hematologist treated her with folate and warfarin. She has had no further ocular or systemic thrombotic events to date.

Conclusion: The combination of the compound heterozygous C677TA1298C MTHFR mutation and an elevated factor VIII level may lead to an increased thrombotic tendency and may have resulted in combined central retinal veincilioretinal artery occlusion in an otherwise healthy 16-year-old girl.