Article

Multimodal imaging and genetic screening in Mexican patients with Gyrate Atrophy. Identification of novel OAT pathogenic variants.

2024-01-19

Abstract excerpt

<title>Abstract</title> <p>Purpose Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of <italic>OAT</italic> gene in patients with Gyrate Atrophy (GA). Methods Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (f...

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Literature Corpus work: 0fbe1f29-5e68-5a8e-beb3-b1924f1e561b
DOI: 10.21203/rs.3.rs-3871876/v1

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