Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings
Beyoglu Eye Journal, cilt.8, sa.4, ss.301-307, 2023 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 8 Sayı: 4
- Basım Tarihi: 2023
- Doi Numarası: 10.14744/bej.2023.72473
- Dergi Adı: Beyoglu Eye Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.301-307
- Anahtar Kelimeler: Atypical presentation, gyrate atrophy, lamellar macular hole, multimodal imaging, retinitis pigmentosa
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.