ISSN: 2459-1777 | E-ISSN 2587-0394
Volume : 8 Issue : 4 Year : 2023
Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings [Beyoglu Eye J]
Beyoglu Eye J. 2023; 8(4): 301-307 | DOI: 10.14744/bej.2023.72473

Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings

Tugce Horozoglu Ceran1, Berrak Sekeryapan Gediz2, Kenan Sonmez2
1Department of Ophthalmology, University of Health Sciences, Diskapi Yildirim Beyazit Training, and Research Hospital, Ankara, Türkiye
2Department of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Türkiye

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.

Keywords: Atypical presentation, gyrate atrophy, lamellar macular hole, multimodal imaging, retinitis pigmentosa.

Tugce Horozoglu Ceran, Berrak Sekeryapan Gediz, Kenan Sonmez. Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings. Beyoglu Eye J. 2023; 8(4): 301-307

Corresponding Author: Tugce Horozoglu Ceran, Türkiye
Manuscript Language: English
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