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

Overview

Journal Beyoglu Eye J

Publisher Kare Publishing

Specialty Ophthalmology

Date 2023 Dec 13

PMID 38089080

Authors

Tugce Horozoglu Ceran

Berrak Sekeryapan Gediz

Kenan Sonmez

Affiliations

Soon will be listed here.

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.

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