Journal of Ophthalmology & Clinical Research Category: Clinical Type: Case Report
Branch Retinal Artery Occlusion Associated with Hyperhomocysteinemia: Case Report
- Sellami Dorra1*, Chaabene Molka1, Abid Fatma1, Gargouri Selma1, Fourati Maher1, Feki Jamel1
- 1 Medicine, Medicine University, Sfax, Tunisia
*Corresponding Author:Sellami Dorra
Medicine, Medicine University, Sfax, Tunisia
Received Date: Dec 05, 2014 Accepted Date: Jan 13, 2015 Published Date: Jan 27, 2015
Figure 2: Fluorescein angiography showing a delay in the filling of inferotemporal artery in the right eye.
|Complete blood count|
|Serum lipids and cholesterol|
|Prothrombin time/partial thromboplastin time|
|Erythrocyte sedimentation rate|
|Complement factors C3 and C4|
|Protein C activity|
|Protein S antigen|
|Activated protein C resistance|
|Serum vitamin B12|
|c-Antineutrophil Cytoplasmic Antibody (cANCA)|
|Factor V Leiden|
The patient was treated with platelet aggregation inhibitors and vitamin supplements (vitamin B1: 300 mg/day, vitamin B6: 60 mg/day and vitamin E: 200 mg/day) and the condition was successfully controlled. At the subsequent visits, the white retinal edema had disappeared but the lost of the visual field persisted (Figure 4-5). The serum homocysteinemia was nearly normalized (14.52 µmol/l).
Hyperhomocysteinemia is an established risk factor for vascular diseases including retinal vascular occlusion . The exact mechanism by which high plasma concentrations of homocysteine induce arterial and venous thrombosis is still not clear. Endothelial injury by release of free radicals, creating an environment of hypercoagulability, and by modification of vessel wall is probably the key mechanism of thrombotic and atherosclerotic complications . Weger et al.,  found that the mean plasma homocysteine levels were significantly higher in patients with retinal artery occlusion compared with normal controls. Vine et al.,  described hyperhomocysteinemia as a risk factor for retinal vascular occlusion in 74 patients. Martin et al., , by measuring the homocysteine levels in 70 patients with retinal vascular disease, conclude that hyperhomocysteinia may be a risk factor for retinal vascular disease and could be simply and cheaply treated with folate and vitamins B6 and B12. Parchand et al.,  found raised serum homocysteine levels in a patient presenting a primary branch retinal artery occlusion with idiopathic retinal vasculitis, aneurysms, and neuroretinitis syndrome. Furthermore, Coban-Karatas et al.,  reported central retinal artery occlusion associated with hyperhomocysteinemia caused by methylenetetrahydrofolate reductase C677T mutation and high lipoprotein (a) level in a child. In our case, homocystinaemia was the only predisposing factor for artery occlusion. Thus, it may be useful to measure homocysteine in the management of premature retinal vascular diseases.
Differing mean plasma homocysteine values for healthy people from various countries have been reported that range from 6 μmol/L in Japan to 13 μmol/L in South Africa . In 1997, Alfthan et al.,  reported the mean plasma homocysteine concentrations in 13 different countries which ranged from 7.1 μmol/L in Germany to 10.7 μmol/L in Finland. Recent studies indicate that 15 to 30 percent of patients with premature occlusive vascular disease have moderately elevated total plasma homocysteine concentrations (higher than 15 μmol/L). A plasma homocysteine concentration exceeding 15 μmol/L defines hyperhomocysteinemia .
Moderate hyperhomocyteinémia (15-30 μmol/L) reflects impaired pathway of remethylation. The possible causes include deficiency of folic acid, vitamin B12 or dysfunction of 5,10-Methyltetrahydrofolate Reductase (MTHFR). A point mutation of amino acid 677 (677 C → T) in MTHFR gene can causes alanine-valine substitution and is associated with reduced enzyme activity of MTHFR. This is the commonest form of genetic hyperhomocysteinemia . Severe hyperhomocysteinemia (>100 μmol/L) may be caused by deficiency of homozygote Cystathionine β-Synthase (CBS), homozygote thermo-stable MTHFR, or enzymes catalyzing vitamin B12 metabolism. Abnormal increase of plasma Hcy (>15 μmol/L) after a methionine load (100 mg/kg) may reflect impaired Hcy transsulfuration due to deficiency of heterozygous CBS or vitamin B6 .
Patients with retinal vascular occlusive disease have also a significant excess of mortality from coronary and cerebrovascular diseases . So it is assumed that by reducing the toxic effect of homocysteine on the blood vessels, the probability of further retinal and systemic vascular occlusion, and therefore the resulting morbidity and mortality will be reduced. Randomized clinical trials have shown that oral supplementation with the combination of folate, B6-, and B12-vitmains substantially lowers circulating homocysteine levels . If effective, the simplicity, availability, and presumably favorable side effect profile of hyperhomocysteinemia treatment with combined folate and oral B6- and B12-vitamin supplementation makes this an attractive addition to standard medical therapy for retinal vascular diseases and primary prevention of cardiovascular disease.
Further, some studies have demonstrated that hyperhomcysteinemia might be involved in the pathophysiology of many neuropsychiatric disorders, including brain atrophy, epilepsy, and Alzheimer’s disease [15-18]. But homocysteinemia-lowering therapies from an early age are it effective at preventing neuropsychiatric disorders? Answer to this question remains novel area for further work.
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Citation:Sellami D, Chaabène M, Abid F, Gargouri S , Feki J, et al. (2015) Branch Retinal Artery Occlusion Associated with Hyperhomocysteinemia: Case Report. J Ophthalmic Clin Res 2: 005.
Copyright: © 2015 Sellami Dorra, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.