DOI: https://doi.org/10.36347/sjmcr.2026.v14i03.035

Pages: 467-470

Gyrate atrophy (GA) of the choroid and retina is a rare, autosomal recessive metabolic disorder caused by a deficiency of the mitochondrial enzyme ornithine aminotransferase. This report describes the clinical characteristics, multimodal imaging findings, and therapeutic outcomes in a 28-year-old Moroccan male from a first-degree consanguineous union who presented with a lifelong history of progressive nyctalopia and high myopia. Best-corrected visual acuity was 20/60 in the right eye and 20/100 in the left. Funduscopy revealed pathognomonic "circumferential garland" chorioretinal atrophic lacunae with scalloped margins and peripapillary atrophy. Multimodal imaging via fundus autofluorescence confirmed profound hypo-autofluorescence in atrophic zones, while infrared retinography highlighted well-demarcated, hyper-reflective scalloped patches. Spectral-domain optical coherence tomography identified significant cystoid macular edema (CME) predominantly within the outer retina. Laboratory analysis confirmed a pathognomonic hyperornithinemia of 950 µmol/L. Following management with a low-arginine diet, vitamin B6, and oral acetazolamide, the six-month follow-up showed a reduction in plasma ornithine levels to 252 µmol/L, correlating with a one-line improvement in visual acuity and stabilization of the macular status. This case underscores the utility of multimodal imaging in diagnosing GA and identifying treatable macular complications like CME, which remain significant obstacles to visual rehabilitation.