{"title":"Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.","authors":"Tugce Horozoglu Ceran, Berrak Sekeryapan Gediz, Kenan Sonmez","doi":"10.14744/bej.2023.72473","DOIUrl":null,"url":null,"abstract":"<p><p>Gyrate atrophy (GA) is a hereditary condition characterized by ornithine aminotransferase deficiency-related large areas of retinal pigment epithelium and choriocapillaris lobular-shaped atrophy in the peripheral retina. In this report, we present a case of atypical presentation of GA. The aim of this report is to present two siblings, one of which was associated with a lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of GA was made only after her brother, who was 5 years younger than her was diagnosed with GA. In addition, in this report, we evaluated GA in terms of multimodal imaging findings, differential diagnosis, and treatment of macular complications.</p>","PeriodicalId":8740,"journal":{"name":"Beyoglu Eye Journal","volume":"8 4","pages":"301-307"},"PeriodicalIF":0.0000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10711583/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Beyoglu Eye Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14744/bej.2023.72473","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Gyrate atrophy (GA) is a hereditary condition characterized by ornithine aminotransferase deficiency-related large areas of retinal pigment epithelium and choriocapillaris lobular-shaped atrophy in the peripheral retina. In this report, we present a case of atypical presentation of GA. The aim of this report is to present two siblings, one of which was associated with a lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of GA was made only after her brother, who was 5 years younger than her was diagnosed with GA. In addition, in this report, we evaluated GA in terms of multimodal imaging findings, differential diagnosis, and treatment of macular complications.
Gyrate 萎缩（GA）是一种遗传性疾病，其特征是与鸟氨酸氨基转移酶缺乏症有关的大面积视网膜色素上皮细胞和周边视网膜绒毛膜叶状萎缩。在本报告中，我们介绍了一例表现不典型的 GA 病例。本报告的目的是介绍两对兄弟姐妹，其中一人伴有片状黄斑孔，并曾被诊断为视网膜色素变性。在她比她小 5 岁的哥哥被诊断出患有 GA 之后，她才被延迟诊断出患有 GA。此外，在本报告中，我们还从多模态成像结果、鉴别诊断和黄斑并发症的治疗等方面对 GA 进行了评估。
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