Article

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>

2024-04-30

Abstract excerpt

This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with v...

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Literature Corpus work: 3d2241fe-6c32-58f6-b30d-922bd420beb6
DOI: 10.20944/preprints202404.1957.v1

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