Abstract
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents the case of a 7-year-old Vietnamese boy with no history of trauma and a complaint of sudden visual loss over the past 6 weeks. Fundus examination showed vitreous hemorrhage in the right eye and chorioretinal atrophy with hyperpigmented margins in the periphery retina of the left eye. Based on the high serum ornithine level and compound heterozygous mutations detected in the ornithine aminotransferase (OAT) gene of the patient, he was diagnosed with GA. The patient underwent a right eye vitrectomy and was supplemented with Vitamin B6 and an arginine-restricted diet. Four months after surgery, the patient's visual acuity was significantly improved, and there was no progression of chorioretinal atrophy or recurrent vitreous hemorrhage. GA is an extremely rare disease and difficult to diagnose, especially when accompanied by vitreous hemorrhage. Combining genetic tests with clinical examinations helped diagnose accurately, and prompt treatment could restore the patient's visual function.