Ocular decompression retinopathy with branch retinal venous occlusion MTHFR genetic mutation.

Abstract

We report an atypical case of a sectorial decompression retinopathy with branch retinal venous occlusion (BRVO) following trabeculectomy, diagnosed with optical coherence tomography angiography (OCTA) for which systemic genetic assessment revealed a MTHF-R mutation. Single case report. A 68 year-old woman diagnosed with an uncontrolled bilateral creeping angle glaucoma, went through an uncomplicated trabeculectomy in both eyes. Best corrected visual acuity (BCVA) was 20/20. Intraocular pressure (IOP) changed from 28 mmHg preoperatively to 5 mmHG postoperatively in the right eye (OD). On the first post-operative day, BCVA was 20/32 with IOP measured to 5 mmHg. Fundus exam revealed sectorial temporal hemorrhages with tortuous temporal superior retinal vein arcade, and choroidal folds. Fluorescein angiography evidenced a slight delay in venous filling along the supra-temporal arcade. Three months later, optical coherence tomography (OCTA) showed macular capillary loops in the supero-temporal area of the retina. This sectorial decompression retinopathy was evocative of a BRVO. At 6 months, BCVA returned to 20/20, with full regression of the hemorrhages. Systemic work-up was normal, but genetic assessment revealed a MTHF-R mutation. Retinal vein occlusion can be considered as a feature of ocular decompression retinopathy (ODR). The present case is the first case to associate BRVO secondary to ODR to a MTHF-R mutation.