Central Retinal Vein Occlusion in Patient with MTHFR Mutation

A patient in good health presented with painless acute blurred vision in the right eye. She was found to have macular edema and retinal hemorrhages consistent with a CRVO. Her initial visual acuity was 20/40 in the right eye and 20/20 in the left eye with normal intraocular pressures. She was treated with intravitreal triamcinolone with resolution of the macular edema at one month and improvement of visual acuity to 20/20 in the affected eye. Given her young age at presentation, the patient was sent for a formal hypercoagulability workup which revealed a mildly elevated homocysteine level. Genetic evaluation confirmed a homozygous C677T MTHFR mutation. She was started on folic acid supplementation and advised against smoking or use of oral contraceptive pills. At age twenty-four, the patient developed retinal neovascularization and subretinal hemorrhage. She underwent laser photocoagulation and treatment with intravitreal bevacizumab in the affected eye. On follow-up, she maintains 20/25 vision with no macular edema.

Presentation Date: 07/29/2021

Issue Date: 09/24/2021