Authors
1 Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2 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.
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.
Keywords
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