Articles with "retinal phenotype" as a keyword



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Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

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Published in 2023 at "European journal of ophthalmology"

DOI: 10.1177/11206721231178147

Abstract: 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… read more here.

Keywords: retinal phenotype; atrophy; gyrate atrophy; clinical characteristics ... See more keywords