DR. KALYAN SINGH MAURYA

DR. BRIJESH KUMAR KUSHWAHA, DR. TANMAY SRIVASTAV, DR. PRASHANT BHUSHAN

Abstract

Aim: Gyrate atrophy is a rare autosomal recessive disorder caused by a mutation in the ornithine-δ-amino transferase gene. We report a case of Gyrate atrophy in north Indian teaching hospital. Methods: We present an rare case of a 14-year young boy who presented with decreased visual acuity. Results: Peripheral vision fields were narrowed and scalloped atrophic peripheral chorioretinal lesions were discovered. The diagnosis of gyrate atrophy was confirmed when blood tests revealed a plasma ornithine level of 1148 mol/L (normal range: 32–88 mol/L). Despite not tolerating nutritional treatment, the patient’s central vision remained intact. Conclusion: Gyrate atrophy is non-treatable. Lowering increased systemic ornithine is thought to reduce illness progression, but due to the condition’s rarity and slow rate of change, the efficacy of such therapies is difficult to confirm. To improve vision and the quality of life connected with it, refraction and low vision aids should be used.