Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Marques, Manuel Sacramento; Alves, Flávia dos S; Leitão, Miguel; Rodrigues, Catarina; Ferreira, Joana

doi:10.1177/11206721211000647

Cited by 4 publications

(5 citation statements)

References 56 publications

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“…Many studies have shown that diabetes is associated with microvascular disease and RVO. 19 , 21 , 22 , 24 , 31 , 37 , 39 , 42 , 55 Vitamin D deficiency, although widespread in the general population, is more frequent and problematic for patients with any of the aforementioned risk factors. Severity of disease manifestation appears to be proportional to the degree of vitamin D deficiency.…”

Section: Discussionmentioning

confidence: 99%

“… 23 , 28 – 36 Atherosclerosis, autoimmune disease, diabetes, dyslipidemia, glaucoma, HTN, hyperviscosity, obesity, smoking, and thrombotic syndromes (antiphospholipid syndrome, antithrombin deficiency, factor 5 Leiden mutations, hyperhomocysteinemia, protein C and S deficiency, and prothrombin gene mutations) are familiar modifiable risk factors for RVO/CRVO. 19 , 21 22 , 24 , 37 – 40 Overall, a best practices protocol should be developed and become the standard of care for ophthalmologists as well as other practitioners managing vascular disease.…”

Section: Introductionmentioning

confidence: 99%

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Case series of retinal vein occlusions showing early recovery using oral l-methylfolate

Baker,

Baker

et al. 2024

Ophthalmol Eye Dis

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This case series describes the aggregate rate of recovery in five consecutive subjects (six eyes) with retinal vein occlusion (RVO) who received l-methylfolate and other vitamins via Ocufolin®, a medical food. Subjects were followed for 10–33 months by a single ophthalmologist. Ocufolin® was prescribed at the time of diagnosis and subjects remained on the regimen throughout the time of observation. Examinations were performed in an un-masked fashion at 3-month intervals with recording of best corrected visual acuity (BCVA), average retinal nerve fiber layer (ARNFL) and central macular thickness (CMT), and fundus (examination of the retina, macula, optic nerve, and vessels) photography. Testing was done for vitamin deficiencies, vascular and coagulable risk factors, and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Vitamin deficiencies and vascular risk factors were found in all subjects, and all four tested subjects carried at least one MTHFR polymorphism. By the end of the study period BCVA in all subjects was 20/25 or better. Cystoid macular edema was identified and measured by optical coherence tomography (OCT). The percent change was calculated and plotted at 3-month intervals using the percent change in thickness from the time of diagnosis and percent change toward normative values for ARNFL and CMT. The total reduction in thickness of ARNFL and CMT from time of diagnosis was 44.19% and 30.27%, respectively. The comparison to normative data shows a reduction of ARNFL from 164.2% to 94% and CMT from 154.4% to 112.7% of normal thickness (100%). Plots showed the aggregate recovery was most rapid over the first 3 months and slowed over the next 3 months with most of the recovery taking place within 6 months of treatment. The rate of improvement in BCVA and resolution of retinal thickening was found to be better than predicted on historical grounds. No subjects progressed from nonischemic to ischemic RVO. Vitamin deficiencies, vascular risk factors, and genetic predisposition to oxidative stress were common in this RVO series. It appears that addressing these factors with Ocufolin® had a salutary effect on recovery.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Case series of retinal vein occlusions showing early recovery using oral l-methylfolate

Baker,

Baker

et al. 2024

Ophthalmol Eye Dis

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“…Mutations in the MTHFR gene affect the activity of the enzyme, leading to elevated homocysteine levels. Common mutations include C677T and A1298C [11].…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in the MTHFR gene affect the activity of the enzyme, leading to elevated homocysteine levels. Common mutations include C677T and A1298C [ 11 ]. Double heterozygous refers to patients who have heterozygous mutations for both of these mutations [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Acute Macular Neuroretinopathy Associated With COVID-19 Infection: Is Double Heterozygous Methylenetetrahydrofolate Reductase (MTHFR) Mutation an Underlying Risk Factor?

Karakosta¹,

Kontou²,

Xirou³

et al. 2023

Cureus

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The goal of this report is to present a case of coronavirus disease 2019 (COVID-19)-associated acute macular neuroretinopathy (AMN) with an underlying MTHFR mutation.A 36-year-old male presented to the emergency department with a sudden-onset paracentral scotoma in his left eye. Although optical coherence tomography (OCT) was normal initially, four days later, it revealed a hyperreflective band in the outer plexiform layer with disruption of the ellipsoid zone/interdigitation zone. On infrared imaging and en-face OCT, wedge-shaped lesions were detected around the fovea with their tip oriented toward the fovea. OCT angiography, fundus autofluorescence, fundus fluorescein angiography, and visual fields were performed. The patient was positive for COVID-19 infection. The absence of medical history and the negative results of blood tests led to a diagnosis of AMN associated with COVID-19. Genetic testing for coagulation disorders was scheduled and revealed a heterozygous mutation for MTHFR C677T and A1298C. This is the first case of AMN in a patient with COVID-19 infection and a double heterozygous mutation of the MTHFR gene. Infection is the most commonly reported association of AMN, while MTHFR mutation may represent an additional underlying risk factor. Microthrombosis and small-vessel occlusion are thought to be involved in the pathophysiology of AMN, and patients should be tested for COVID-19 because it may be the first manifestation of the infection.

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“…However, in our case, although the MTHFR heterozygous mutation was present, homocysteine levels were within the normal range, and therefore primary thrombophilia was not considered. Although there is evidence in the literature that hyperhomocysteinemia increases the risk of retinal vein occlusion, no relationship has been found between the MTHFR C677T polymorphism and retinal vein occlusion [ 11 , 12 ]. However, this is still a controversial topic.…”

Section: Discussionmentioning

confidence: 99%

Inner retinal layer ischemia and vision loss after COVID-19 infection: A case report

Sönmez

Polat

Erkan

2021

Photodiagnosis and Photodynamic Therapy

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Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

Cited by 4 publications

References 56 publications

Case series of retinal vein occlusions showing early recovery using oral l-methylfolate

Case series of retinal vein occlusions showing early recovery using oral l-methylfolate

Acute Macular Neuroretinopathy Associated With COVID-19 Infection: Is Double Heterozygous Methylenetetrahydrofolate Reductase (MTHFR) Mutation an Underlying Risk Factor?

Inner retinal layer ischemia and vision loss after COVID-19 infection: A case report

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