Gyrate Atrophy of the Choroid and Retina: A Case Report
<span style="font-size: x-small;">Introduction</span><br /> <span style="font-size: x-small;">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 con...
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2019-09-01
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| Series: | International Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://ijp.mums.ac.ir/article_12175_dac23e01666d72c7a7d1e33da369ad48.pdf |
| _version_ | 1797999098715963392 |
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| author | Somayyeh Hashemian Rahim Vakili Azadeh Zare Feizabadi |
| author_facet | Somayyeh Hashemian Rahim Vakili Azadeh Zare Feizabadi |
| author_sort | Somayyeh Hashemian |
| collection | DOAJ |
| description | <span style="font-size: x-small;">Introduction</span><br /> <span style="font-size: x-small;">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. </span><br /> <span style="font-size: x-small;">Case Report</span><br /> <span style="font-size: x-small;">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.</span><br /> <span style="font-size: x-small;">Conclusion</span><br /> <span style="font-size: x-small;">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.</span> |
| first_indexed | 2024-04-11T10:58:09Z |
| format | Article |
| id | doaj.art-0110be6c2bb443aaa7d42cc8d2ff0190 |
| institution | Directory Open Access Journal |
| issn | 2345-5047 2345-5055 |
| language | English |
| last_indexed | 2024-04-11T10:58:09Z |
| publishDate | 2019-09-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | International Journal of Pediatrics |
| spelling | doaj.art-0110be6c2bb443aaa7d42cc8d2ff01902022-12-22T04:28:41ZengMashhad University of Medical SciencesInternational Journal of Pediatrics2345-50472345-50552019-09-0179101191012310.22038/ijp.2019.36478.317912175Gyrate Atrophy of the Choroid and Retina: A Case ReportSomayyeh Hashemian0Rahim Vakili1Azadeh Zare Feizabadi2Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.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.Department of Pediatric Endocrinology and Metabolism, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.<span style="font-size: x-small;">Introduction</span><br /> <span style="font-size: x-small;">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. </span><br /> <span style="font-size: x-small;">Case Report</span><br /> <span style="font-size: x-small;">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.</span><br /> <span style="font-size: x-small;">Conclusion</span><br /> <span style="font-size: x-small;">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.</span>http://ijp.mums.ac.ir/article_12175_dac23e01666d72c7a7d1e33da369ad48.pdfAdolescentCoronary artery aneurysmIdiopathic aneurysmCardiac catheterization |
| spellingShingle | Somayyeh Hashemian Rahim Vakili Azadeh Zare Feizabadi Gyrate Atrophy of the Choroid and Retina: A Case Report International Journal of Pediatrics Adolescent Coronary artery aneurysm Idiopathic aneurysm Cardiac catheterization |
| title | Gyrate Atrophy of the Choroid and Retina: A Case Report |
| title_full | Gyrate Atrophy of the Choroid and Retina: A Case Report |
| title_fullStr | Gyrate Atrophy of the Choroid and Retina: A Case Report |
| title_full_unstemmed | Gyrate Atrophy of the Choroid and Retina: A Case Report |
| title_short | Gyrate Atrophy of the Choroid and Retina: A Case Report |
| title_sort | gyrate atrophy of the choroid and retina a case report |
| topic | Adolescent Coronary artery aneurysm Idiopathic aneurysm Cardiac catheterization |
| url | http://ijp.mums.ac.ir/article_12175_dac23e01666d72c7a7d1e33da369ad48.pdf |
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