Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants
This study provides new information regarding functional and structural diagnosis in patients with GA, expands the understanding of retinal phenotype in patients with GA, reports two novel mutations and presents the first case of GA confirmed by genetic testing with normal ornithine levels.
Authors
- Ana Lía Díazceballos-García (ORCID: https://orcid.org/0000-0003-1972-6429)
- Rodrigo Matsui (ORCID: https://orcid.org/0000-0002-4492-7006)
- Juan Carlos Zenteno (ORCID: https://orcid.org/0000-0002-9716-8146)
- Jaime Francisco Rosales Padrón (ORCID: https://orcid.org/0000-0003-2377-8125)
- María Graciela Chairez Miranda
- Federico Graue‐Wiechers
Institutions
- Institute of Ophthalmology (MX)
- Universidad Nacional Autónoma de México (MX)
Publication Details
- Journal
- International Ophthalmology
- Published
- 2024-12-07
- DOI
- https://doi.org/10.1007/s10792-024-03260-0
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00