Original articleNonarteritic anterior ischemic optic neuropathy: associations with homozygosity for the C677T methylenetetrahydrofolate reductase mutation☆
Section snippets
Study protocol
The Jewish Hospital Institutional Review Board approved this consecutive case study, which was carried out in accordance with the ethical standards for human experimentation established by the Declaration of Helsinki of 1975 and revised in 1983. Written informed consent was obtained from all subjects.
Over the course of 48 months (February 1999–March 2003), 2 community-based ophthalmologists prospectively and consecutively evaluated 12 patients with NAION in the sequence of their referral. The
Cases and controls
Demographic values for the patients and the 3:1 age-, sex-, and race-matched controls are summarized in Table III. This matching reduces the likelihood that differences in PCR measures are a result of these factors but does not entirely eliminate the possibility.
Twelve white patients (4 men and 8 women, mean ± SD age 62 ± 15 years old, 3 ≤ 55 years) had NAION (8 unilateral, 4 bilateral; Table I). Except for a 26-year-old woman whose NAION developed in her 22nd week of pregnancy (patient 9), 11
Discussion
In this study, NAION was associated with heritable thrombophilia, homozygosity for the C677T mutation of the MTHFR gene. The 12 patients with NAION were more likely than controls to have homozygosity for the C677T gene mutation of the MTHFR gene (50% vs 11%, P = .004, Fisher's P = .009). Homozygosity for the C677T MTHFR was associated with NAION patients (OR 8.0, 95% CI 1.72–37.19). We examined type I and type II errors and power. The declaration that a significant difference existed with
References (38)
- et al.
Reversal of nonarteritic anterior ischemic optic neuropathy associated with coexisting primary antiphospholipid syndrome and Factor V Leiden mutation
Am J Ophthalmol
(2001) - et al.
Hyperhomocystinemia in patients with nonarteritic anterior ischemic optic neuropathy, central retinal artery occlusion, and central retinal vein occlusion
Ophthalmology
(2000) - et al.
Analysis of prothrombotic and vascular risk factors in patients with nonarteritic anterior ischemic optic neuropathy
Ophthalmology
(1999) Antiphospholipid antibodies and thrombosis
Lancet
(1999)- et al.
A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis
Blood
(1999) - et al.
Genetic hypofibrinolysis in complicated pregnancies
Obstet Gynecol
(2001) - et al.
Pseudotumor cerebriassociations with coagulation disorders and polycystic ovary syndrome
J Lab Clin Med
(2003) - et al.
Relationships between lipoprotein (a), lipids, apolipoproteins, basal and stimulated fibrinolytic regulators, and d-dimer
Metabolism
(1993) - et al.
Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa
Blood
(1993) - et al.
Estrogen replacement therapy, thrombophilia, and atherothrombosis
Metabolism
(2002)
Anterior ischemic optic neuropathytrouble waiting to happen
Ophthalmology
Aspirin therapy in nonarteritic anterior ischemic optic neuropathy
Am J Ophthalmol
The fellow eye in NAIONreport for the ischemic optic neuropathy decompression trial follow-up study
Am J Ophthalmol
Interaction of heritable and estrogen-induced thrombophiliapossible etiologies for ischemic optic neuropathy and ischemic stroke
Thromb Haemost
Optic neuropathy in the “primary” antiphospholipid syndromeReport of a case and review of the literature
Clin Rheumatol
Optic neuropathy in primary antiphospholipid syndrome in childhood
J Child Neurol
Bilateral non-arteritic anterior ischemic optic neuropathy in a patient with autoimmune thrombocytopenia
Eur J Ophthalmol
Hyperhomocysteinemia in young patients with non-arteritic anterior ischaemic optic neuropathy
Br J Ophthalmol
Hyperhomocyst(e)inemia, but not MTHFR C677T mutation, as a risk factor for non-arteritic ischaemic optic neuropathy
Br J Ophthalmol
Cited by (37)
Presumed ischemic optic neuropathy
2019, Canadian Journal of OphthalmologyThrombotic events after starting exogenous testosterone in men with previously undiagnosed familial thrombophilia
2011, Translational ResearchCitation Excerpt :In 20 of these 38 men, we were able to measure total testosterone, free T, and E2 before and after testosterone therapy. PCR measures of thrombophilia-hypofibrinolysis (G1691A factor V Leiden, G20210A prothrombin, MTHFR C677T-A1298C, and 4G5G plasminogen activator inhibitor activity gene mutations) were performed in all cases using previously published methods by laboratory staff blinded to the subjects’ status (diagnosis and severity of disease).7,37-44 Abnormal results of the PCR tests are displayed in Table I.
Perioperative visual loss: What do we know, what can we do?
2009, British Journal of AnaesthesiaCitation Excerpt :Visual evoked potentials are abnormal.31 Possible factors are: prone positioning, lengthy spinal fusion surgery, decreased arterial pressure, blood loss, anaemia or haemodilution, change in venous haemodynamics, cerebrospinal fluid flow in the optic nerve (including effects of patient positioning and perioperative fluid resuscitation), abnormal optic nerve blood flow autoregulation, optic nerve blood supply anatomic variation, low cup-to-disc ratio, use of vasopressors, systemic vascular risk factors including hypertension, diabetes, atherosclerosis, hyperlipidaemia, smoking, sleep-apnoea syndrome, and hypercoaguability.14 37 67 80 101 One or more risk factors are often present in a patient in an unpredictable fashion, with some degree of hypotension or anaemia and fluid resuscitation.
Thrombophilia-hypofibrinolysis and atherothrombotic cardiovascular disease ≤ age 45 years
2007, Translational ResearchCitation Excerpt :For PCR and serologic analyses, 76 female controls (23 hospital personnel, 53 healthy women from family studies) included 66 Caucasians, 6 African Americans, and 4 others. Thrombophilias studied by PCR included G1691A Factor V Leiden, G20210A Prothrombin, MTHFR C677T, and platelet glycoprotein PL A1/A2 mutations.37-39 Serologic studies of thrombophilia included resistance to activated protein C (RAPC); ACLA IgG and IgM; the lupus anticoagulant; proteins C, S, and antithrombin III; homocysteine; and Factors VIII and XI.37-39
Non-arteritic anterior ischemic optic neuropathy after uneventful delivery in a healthy woman
2023, European Journal of OphthalmologyBilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation
2022, Neuro-Ophthalmology
- ☆
Supported in part by a Jewish Hospital Medical Research Council Grant and by the Lipoprotein Research Fund of Jewish Hospital.