scholarly journals Association Study of MTHFR Polymorphisms with Nonarteritic Anterior Ischemic Optic Neuropathy in a Spanish Population

2020 ◽  
Vol 5 (1) ◽  
pp. 1-13 ◽  
Author(s):  
Beatriz Fernández-Vega ◽  
Lydia Álvarez ◽  
Montserrat García ◽  
Enol Artime ◽  
Marta Diñeiro Soto ◽  
...  

Introduction: Nonarteritic anterior ischemic optic neuropathy (NAION), painless loss of central and/or peripheral vision, is a multifactorial disease caused by insufficient blood flow through the posterior ciliary arteries to the optic nerve head. Mutations in the methylenetetrahydrofolate reductase (MTHFR) gene, triggering hyperhomocysteinemia as a consequence of a decreased activity of the codified enzyme, have been considered to be among the risk factors of NAION. Objective: The main aim was to study the association of the most common MTHFR genetic polymorphisms C677T and A1298C with NAION in a Spanish population. Methods: In this case-control study, the association of the most common MTHFR polymorphisms was investigated in 94 unrelated native Spanish patients diagnosed with NAION and 204 healthy controls. Two single nucleotide polymorphisms located in the MTHFR gene, C677T (rs1801133) and A1298C (rs1801131), were analyzed by DNA sequencing and TaqMan assays. Results: The allelic and genotypic frequencies of the MTHFR variants obtained in the NAION group were not significantly different when compared with the control group. A higher frequency of the C677T/A1298C genotype, codifying the nonmutated MTHFR form, was obtained in control subjects (11.27%) compared to NAION patients (4.26%), suggesting a protective effect of the wild-type protein, although this result was not conclusive considering the obtained confidence interval (CI) (95% CI: 0.13–1.06). Study of additional clinical factors including hypertension, diabetes mellitus, and dyslipidemia showed no association with a higher risk of NAION. Conversely, the clinical history of heart or cerebrovascular diseases was significantly higher in NAION patients compared to controls. Over the world, risk variants of the MTHFR gene are highly frequent, excluding African black populations, indicating a racial influence. Conclusions: The MTHFR variants did not significantly increase the risk of suffering from NAION. However, considering that individuals with at least one of the risk variants have the MTHFR enzyme with decreased activity, it cannot be ruled out that these mutations are relevant for the development of NAION in a subgroup of the population with other specific characteristics. These may include high plasma levels of homocysteine along with nutritional deficiencies including low folate or vitamin B12 and the combination of systemic and local risk factors.

2019 ◽  
pp. 15-20
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Nonarteritic anterior ischemic optic neuropathy is the most frequent cause of acute-onset optic neuropathy in older adults. Its exact pathogenesis remains uncertain, although it often occurs in patients with a small, structurally congested optic disc (“disc at risk”). In this chapter, we begin by reviewing the clinical features of nonarteritic anterior ischemic optic neuropathy. We then discuss the prognosis for recovery of vision and fellow eye involvement. We review the risk factors and precipitating factors for this condition. We list the medications that have been associated with this condition. Lastly, we review the workup and management approach for this common condition.


2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Charlotte Fischer ◽  
Anne Bruggemann ◽  
Annette Hager ◽  
Josep Callizo Planas ◽  
Johann Roider ◽  
...  

Background. Ocular vascular occlusions following intraocular procedures are a rare complication. We report a case series of patients with retinal vascular occlusions or anterior ischemic optic neuropathy (AION) after anterior and posterior segment surgery and demonstrate possible risk factors. Methods. Observational case series. Results. In ten patients, vascular occlusions were observed within ten weeks after intraocular surgery: branch retinal arterial occlusion (BRAO) (n=2), central retinal artery occlusion (CRAO) (n=2), central retinal vein occlusion (CRVO) (n=1), branch retinal vein occlusion (BRVO) (n=1), anterior ischemic optic neuropathy (AION) (n=3), and combined central artery and vein occlusion (n=1). AION occurred later (27–69 d) than arterial occlusions (14–60 d) or venous occlusions (1-2 d). In all cases, either specific surgical manipulations or general vascular disorders were identified as risk factors. In addition to general cardiovascular risk factors (arterial hypertension n=6, diabetes mellitus n=4), internal workup disclosed bilateral stenosis of the carotid arteries (n=1) and myeloproliferative syndrome (n=1). Conclusion. Vascular occlusions after surgical ocular procedures seem to be more frequent when cardiovascular diseases coexist. Surgical maneuvers and intra- or postoperative pressure changes may act as a triggering mechanism in patients with underlying systemic cardiovascular disorders. Affected patients should undergo thorough internal examination to identify possible underlying diseases.


2014 ◽  
Vol 29 (7) ◽  
pp. 1249-1257 ◽  
Author(s):  
Stephanie Dufek ◽  
Markus Feldkoetter ◽  
Enrico Vidal ◽  
Mieczyslaw Litwin ◽  
Marion Munk ◽  
...  

2020 ◽  
Author(s):  
Longli Zhang ◽  
Kaiwen Hei ◽  
Yifeng Ke ◽  
Heng Zhang ◽  
Xiaorong Li ◽  
...  

Abstract Background To assess the vascular changes associated with non-arteritis anterior ischemic optic neuropathy (NAION) by using integrative vessel analysis (IVAN) and risk factors associated with NAION. Methods We performed a case-control study of 120 patients, including 40 NAION patients during July 2015 to July 2019. Patients were divided into Normal, hypertension and NAION groups. IVAN was conducted to evaluate the caliber of retinal vessels. In addition, we also analyzed risk factors (age, gender and BMI) to identify their association with NAION. Results 84 women and 36 men were involved in our study, the average age was 58 ± 9.98 years. CRAE, CRVE and AVR in the whole patients were 154.54 ± 21.53 µm, 252.22 ± 15.88 µm and 0.64, respectively. ANOVA analysis showed significant difference of CRAE [F (2,116) = 4.203, p = 0.017], CRVE [F (2,116) = 49.91, p < 0.001] and AVR [F (2,116) = 13.81, p < 0.0001] between each group, NAION group had wider CRAE and CRVE, while smaller AVR. BMI value showed negative correlation with CRAE in NAION group, while positively with CRVE. Conclusion Retinal vascular caliber can be used as an indicator to evaluate the NAION. Our study suggested that an assessment of retinal vascular caliber may offer insights into the development of NAION.


2021 ◽  
Author(s):  
Mohammad Hossein Abbasi ◽  
Shahnaz Rimaz ◽  
Zahra Pourmousa ◽  
Leila Janani ◽  
Mostafa Soltan Sanjari

Abstract Background: Fluoxetine enhances the levels of brain-derived neurotrophic factor (BDNF); considering its known improving effects on neurogenesis and plasticity, it seems to improve the Anterior Ischemic Optic Neuropathy (AION). This study aimed to evaluate the effect of Fluoxetine on clinical prognosis of patients with AION.Methods: In this double-blind placebo-controlled randomized clinical trial, subjects with AION who were referred to Rasool Akram Hospital were divided into two study groups; the fluoxetine group that received 20 mg Fluoxetine daily(n=50) and the control group (n=50) that received placebo for a period of six months. Patients underwent clinical and paraclinical evaluations before and after the trial. This study was a registered trial with IRCT code IRCT20181109041596N1.Results: One hundred patients were enrolled from August 2019 to December 2020 and assessed in this study. Subjects in Fluoxetine group showed significant improvement in visual acuity in comparison to the placebo group with less score in LogMAR scale (P: 0.008 and 0.002, respectively), improvement in MD parameters of perimetry (P: 0.003 and 0.002, respectively), and decrease in VEP latencies (P (in 1st minute): <0.001 and <0.001, P (in 15st minute): 0.038 and 0.011, respectively). There were no differences in color vision, Rnfl in all dimensions, PSD parameter of perimetry or VEP amplitudes following the trial of Fluoxetine therapy (Ps> 0.05).Conclusion: Fluoxetine showed promising therapeutic value for patients with AION besides its safety as an additive treatment option to corticosteroids.


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