Gyrate Atrophy of the Choroid and Retina: A Case Report

Hashemian, Somayyeh and Vakili, Rahim and Zare Feizabadi, Azadeh (2019) Gyrate Atrophy of the Choroid and Retina: A Case Report. International Journal of Pediatrics, 7 (9). pp. 10119-10123.

[img] Text
IJP_Volume 7_Issue 9_Pages 10119-10123.pdf

Download (379kB)
Official URL: http://ijp.mums.ac.ir/article_12175.html

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.

Item Type: Article
Uncontrolled Keywords: Adolescent,Coronary artery aneurysm,Idiopathic aneurysm,Cardiac catheterization
Subjects: WS Pediatrics
QY Clinical Pathology
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 13 Oct 2019 11:53
Last Modified: 13 Oct 2019 11:53
URI: http://eprints.mums.ac.ir/id/eprint/12248

Actions (login required)

View Item View Item