Gyrate Atrophy of the Choroid and Retina: A Case Report

Publish Year: 1398
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:

JR_INJPM-7-9_013

تاریخ نمایه سازی: 20 مهر 1398

Abstract:

Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision, and Posterior Subcapsular Cataracts. Patients have lower amounts of ornithine aminotransferase. Case Report In this study, we report a 17-year-old boy referred to our hospital by an ophthalmologist, with progressive visual loss from 7 years of age. The eye examinations manifested chorioretinal degeneration and high myopia. In lab data, plasma ornithine amount was elevated 10-fold higher than normal. By this finding, he was diagnosed as having Gyrate Atrophy. Conclusion Treatment with pyridoxine and low arginine diet can reduce the ornithine plasma level in Gyrate Atrophy. Our report is to describe the first case of gyrate atrophy in pediatric endocrinology department in Iran diagnosed by biochemistry and treated with pyridoxine and low arginine diet.

Authors

Somayyeh Hashemian

Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Rahim Vakili

Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran AND Medical Genetic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Azadeh Zare Feizabadi

Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.