Article
Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.
European journal of ophthalmology - 1 Jan 2024
Pauleikhoff L, Weisschuh N, Lentzsch A, Spital G, Krohne T U, Agostini H, Lange C A K
Abstract excerpt
INTRODUCTION: Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy. However, a GA-like retinal phenotype (GALRP) without elevated ornithine levels has also been reported. The aim of this study is to compare the...
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