Rapid improvement of cystoid macular edema in a patient with gyrate atrophy.

Gyrate atrophy (GA) is a rare autosomal recessive disease caused by a defect in the enzyme ornithine aminotransferase (OAT). We report a case of a 4-year-old boy with GA of the choroid and retina. Following initiation of an arginine-restricted diet and targeted supplementation, there was rapid improvement in his cystoid macular edema (CME) and foveoschisis. We also report clinical and imaging findings from his 2-year-old sister, who carries the same genetic variant. This report highlights the potential for early metabolic intervention to produce rapid anatomical improvement in GA-associated CME. Further studies are needed to determine which mutations respond better to specific treatments.