Article

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

2023-02-17

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine ƍ -aminotransferase. Impaired enzymatic activity leads to systemic hyperornithaemia, which in turn underlies progressive chorioretinal degeneration. In this study, we describe the clinical and molecular findings i...

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Literature Corpus work: bc66d19a-7cdb-55de-8929-9aabf7e964ed
DOI: 10.1101/2023.02.15.23285700

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