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Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.

International ophthalmology - 7 Dec 2024

Díazceballos-García Ana Lía, Matsui Rodrigo, Chairez Miranda María Graciela, Rosales Padrón Jaime Francisco, Graue-Wiechers Federico, Zenteno Juan Carlos

Abstract excerpt

PURPOSE: Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT 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 (ffERG) and chromatic perimetry (CP) testing...

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Electroretinography
Fluorescein Angiography
Multimodal Imaging
Ornithine
Tomography, Optical Coherence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Visual Field Tests

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PMID: 39644342
DOI: 10.1007/s10792-024-03260-0
PMCID: PMC11625059

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