Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants
Ana Lía Díazceballos-García, Rodrigo Matsui, María Graciela Chairez Miranda, Jaime Francisco Rosales Padrón, Federico Graue-Wiechers, Juan Carlos Zenteno · 2024
Read Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants by Ana Lía Díazceballos-García, Rodrigo Matsui, María Graciela Chairez Miranda, Jaime Francisco Rosales Padrón, Federico Graue-Wiechers, Juan Carlos Zenteno (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11625059.txt.
Description
Ana Lia Diazceballos-Garcia and five co-authors report eye and gene findings in Mexicans with gyrate atrophy, a rare eye disease, in a 2024 paper. The illness slowly eats away at the back of the eye, narrowing sight. It stems from faults in a gene called OAT, which normally helps break down a protein part called ornithine.
The team tested twelve eyes from seven patients with photos, scans, field tests, and light response checks. All eyes showed pinched fields of view and worn patches at the back of the eye. Blood levels of ornithine ran high in most, though one gene-proven case had normal levels. Gene checks found two new harmful variants, growing the known list for this illness.
Catalog record
| CREATOR | Ana Lía Díazceballos-García, Rodrigo Matsui, María Graciela Chairez Miranda, Jaime Francisco Rosales Padrón, Federico Graue-Wiechers, Juan Carlos Zenteno |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 28 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |