Clinical case of branch retinal artery occlusion in inherited thrombophilia

Branch retinal artery occlusion (BRAO) is an extremely rare vascular event in the pediatric population. Unlike elderly patients, in whom atherosclerosis is the primary cause, BRAO in children and adolescents is often associated with systemic conditions, including hypercoagulation and genetic predisposition to thrombosis. Ophthalmoscopy and OCT revealed local ischemic retinal edema along the inferior temporal branch of the central retinal artery. Systemic examination and molecular genetic testing revealed combined genetic thrombophilia: heterozygous mutation of the MTHFR gene (A1298C) and homozygous PAI-1 polymorphism (4G/4G). There was also an increase in the level of D-dimer (0.65 µg/ml). The patient received comprehensive conservative therapy aimed at improving microcirculation in the retinal vessels, dilating capillaries, lowering intraocular pressure, stabilizing the rheological properties of blood, and enhancing neuroprotection. Despite the fact that the best-corrected visual acuity (BCVA) was restored to 1.0, there was a persistent absolute scotoma in the upper nasal quadrant, corresponding to the area of secondary atrophy of the inner retinal layers in the affected zone recorded on follow-up OCT. This case highlights the clinical importance of a multidisciplinary approach in the treatment of retinal vascular occlusions in children. BRAO in a child should be considered as a potential marker of serious systemic disease, in particular hereditary thrombophilia, which requires early intervention to prevent further complications.