Case report on Vitamin B6-Responsive Gyrate atrophy with Cystoid Macular Edema in a Consanguineous Young Male: A Treatable Metabolic Retinopathy

Abstract

Gyrate atrophy is a rare autosomal recessive chorioretinal dystrophy caused by ornithine aminotransferase deficiency, resulting in toxic accumulation of plasma ornithine and progressive retinal degeneration. We describe a 20-year-old male, born to consanguineous parents, who presented with progressive diminution of vision, nyctalopia, and peripheral visual field loss. Fundus examination revealed sharply demarcated, scalloped areas of midperipheral chorioretinal atrophy with relative macular sparing. Optical coherence tomography demonstrated cystoid macular edema, whereas plasma ornithine levels were markedly elevated. The patient was treated with dietary protein restriction and pyridoxine supplementation, with biochemical improvement and stabilization of visual function. Early recognition, metabolic monitoring, and evaluation of pyridoxine responsiveness may delay visual deterioration and improve visual prognosis in gyrate atrophy.