BEHCET'S DISEASE PRESENTING WITH CENTRAL RETINAL VEIN OCCLUSION AND COEXISTENT HOMOZYGOUS MTHFR A1298C MUTATION: A CASE REPORT AND LITERATURE REVIEW

Abstract

Purpose: To report unusual case of central retinal vein occlusion (CRVO) as the rst manifestation of Behcet's disease (BD) with coexistent hyperhomocysteinemia (Hcy) and homozygous MTHFR A1298C mutation.in a young male, and to provide a literature review regarding the role of Hcy and MTHFR mutations as risk factors for retinal vein occlusion (RVO) in BD patients. Methods: We are reporting a case of CRVO as the rst manifestation of BD with coexistent Hcy and homozygous MTHFR A1298C mutation.in a young male. A search was conducted in the Medline/pubmed database using keywords "CRVO, Behcet's disease, Hyperhomocysteinemia, homocysteine, MTHFR”. Full texts of 38 original articles directly related to the aim of the review were used. Results: A 30 year old male was found to have BD few months after presenting with Right CRVO. A lab work-up was carried for investigations of thrombophilia and possible coexisting autoimmune disorders, as possible causes for CRVO. Lab results revealed the presence of homozygous mutation of MTHFR A1298C subtype with Hcy, which was strongly suggestive of thrombotic pathophysiology for CRVO in our patient. Later the patient reported an episode of diarrhea with abdominal pain which appeared to be caused by stage 3 ciliac disease. Afterwords he started to have recurrent frequent episodes of painful oral ulcers, with an episode of genital ulceration and folliculitis like lesions on his back and shoulders. A diagnosis of BD was made and previous right CRVO was attributed to retinal vasculitis in the context of BD. The patient was well controlled on IV solumedrol followed by oral prednisolone and oral cyclosporine, which was later replaced by azathioprine 150mg. After a whole year of stabilization tapering of oral prednisolone was continued and by reaching a dose of 2.5 mg the patient had recurrence of right macular edema (ME) with signs of impending left CRVO, which was controlled again by raising oral prednisolone to 80 mg and azathioprine to 200mg. This led to right ME regression and left eye stabilization. While tapering again oral prednisolone and reaching a dose of 12,5 mg, impendig left CRVO progressed to CRVO with ME and right ME recurred. IV solumedrol was started again followed by oral prednisolone, azathioprine 200 mg with the add of iniximab. Both eyes became stable with total regression of ME. 6 months later, recurrent left ME was noticed and treated with suprachoroidal triamcinolone acetonide injection (SCTA). One week post SCTA, left ME regressed and remained stable through 1 month follow up. Conclusion: CRVO can be the rst presentation of BD in young patients. Associated homozygous MTHFR A1298C mutation and Hcy are possible risk factors for hypercoagulability state causing thrombotic complications in these patients