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- Title
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
- Authors
Ramshe, Samira Molaei; Zardadi, Safoura; Alehabib, Elham; Nourinia, Ramin; Jamshidi, Javad; Soosanabadi, Mohsen; Darvish, Hossein
- Abstract
Purpose: Gyrate atrophy of the choroid and retina (GACR) is a rare congenital disorder and mutations in the ornithine aminotransferase (OAT) gene has been specified as the underlying cause. Patients show a high level of ornithine in body fluids which may be controlled by low protein diets. Pyridoxine (vitamin B6) supplementation may also be effective, however, most patients appear to be nonresponsive to this modality of treatment. Case Report: Here, we report a characterized case of a vitamin B6-responsive GACR who had a splicing mutation in the OAT gene. The GACR diagnosis was confirmed through the clinical features, imaging, biochemical findings, and whole-exome sequencing (WES) results. WES data revealed the splicing mutation in intron 4 of the OAT gene (NM_001322967: c.425-1G>A). Conclusion: Our knowledge about the diagnosis and treatment of GACR can be improved by identifying novel mutations in the OAT gene and accurate follow-up of the patients to determine how they respond to treatment.
- Subjects
RETINAL disease diagnosis; VISION disorders; EYE abnormalities; RETINAL diseases; TREATMENT effectiveness; DNA; GENES; ELECTRORETINOGRAPHY; VITAMIN B6; EYE examination; AMINO acid metabolism disorders; UVEAL diseases; GENETIC mutation; IRANIANS; ANTERIOR eye segment; AMINOTRANSFERASES; SEQUENCE analysis
- Publication
Journal of Ophthalmic & Vision Research, 2024, Vol 19, Issue 1, p118
- ISSN
2008-2010
- Publication type
Article
- DOI
10.18502/jovr.v19i1.15446