Effects of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms on Retinal Tissue Perfusion in Mild Diabetic Retinopathy Patients Receiving the Medical Food, Ocufolin^®

Abstract

Purpose

We evaluate the effects of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on retinal tissue perfusion in patients with mild diabetic retinopathy (DR + PM) taking the medical food, Ocufolin^®, for 6 months.

Methods

Prospective, case-controlled study. Eight early diabetic retinopathy patients with common reduced function MTHFR polymorphisms (DR+PM) and 15 normal controls (NC) were recruited. MTHFR polymorphisms were subtyped as normal, C677T, or A1298C. Best corrected visual acuity (BCVA) was evaluated. Retinal blood flow velocity (BFV) was measured using Retinal Function Imager. Retinal tissue perfusion (RTP, blood flow rate per inner retinal volume) was calculated within a 2.5 mm diameter circle centered on the fovea. The medical food is intended to address ocular ischemia with high doses of vitamin B-complexes and antioxidants, including L-methylfolate, methylcobalamin, zinc, copper, lutein, vitamins C, D, E, and n-acetylcysteine. The subjects were provided with a medical food for a period of 6 months.

Results

BCVA and vascular indices of DR + PM patients at baseline were initially below those of NC and improved after medical food. Compared to baseline, DR + PM patients after the medical food had significantly improved BCVA during the follow-up period (P < 0.05). In comparison, overall RTP and arteriolar BFV were significantly increased at 6 months (P < 0.05). The changes varied with MTHFR subtypes. In patients with the C677T and the C677T/A1298C compound mutations, RTP was increased at 6 months as compared to that at baseline and 4 months (P < 0.05). In patients with only the A1298C mutation, all microcirculation metrics were increased from baseline at 4 and 6 months, but with less improvement at 6 months than at 4 months (P < 0.05).

Conclusion

Medical food was effective in improving both visual acuity and retinal tissue perfusion in DR + PM patients. The degree of improvement of retinal microcirculation varied among MTHFR subtypes.

Keywords:

• diabetic retinopathy
• homocysteine
• L-methylfolate
• n-acetylcysteine
• medical food
• MTHFR
• Ocufolin^®
• retinal microcirculation
• retinal perfusion

Disclosure

The authors report no conflicts of interest in this work.

Additional information

Funding

This study was supported by research grants from Global Healthcare Focus LLC, NIH Center Grant P30 EY014801, NINDS 1R01NS111115-01 (Wang), and a grant from the Research to Prevent Blindness (RPB).