Ceran Tugce Horozoglu, Gediz Berrak Sekeryapan, Sonmez Kenan
Department of Ophthalmology, University of Health Sciences, Diskapi Yildirim Beyazit Training, and Research Hospital, Ankara, Türkiye.
Department of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Türkiye.
Beyoglu Eye J. 2023 Dec 1;8(4):301-307. doi: 10.14744/bej.2023.72473. eCollection 2023.
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.
回旋状萎缩（GA）是一种遗传性疾病，其特征是鸟氨酸转氨酶缺乏相关的视网膜色素上皮和脉络膜毛细血管在周边视网膜出现大片小叶状萎缩。在本报告中，我们展示了一例GA的非典型表现病例。本报告的目的是介绍一对兄弟姐妹，其中一人伴有黄斑板层裂孔且既往有色素性视网膜炎诊断史。GA的诊断延迟，直到比她小5岁的弟弟被诊断出患有GA后才得以确诊。此外，在本报告中，我们从多模态影像学表现、鉴别诊断以及黄斑并发症的治疗方面对GA进行了评估。
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