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

Tugce Horozoglu Ceran; Berrak Sekeryapan Gediz; Kenan Sonmez

doi:10.14744/bej.2023.72473

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

Beyoglu Eye J. 2023 Dec 1;8(4):301-307. doi: 10.14744/bej.2023.72473. eCollection 2023.

Authors

Tugce Horozoglu Ceran¹, Berrak Sekeryapan Gediz², Kenan Sonmez²

Affiliations

¹ Department of Ophthalmology, University of Health Sciences, Diskapi Yildirim Beyazit Training, and Research Hospital, Ankara, Türkiye.
² Department of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Türkiye.

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.

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

Publication types

Case Reports