Published date: Mar 10 2024

Journal Title: Journal of Ophthalmic and Vision Research

Issue title: Jan–Mar 2024, Volume 19, Issue 1

Pages: 118–132

DOI: 10.18502/jovr.v19i1.15446

Samira Molaei RamsheHeersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA

Safoura ZardadiDepartment of Biology, School of Basic Sciences, Science and Research Branch, Islamic Azad University, Tehran, Iran

Elham AlehabibStudent Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Ramin NouriniaOphthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Javad JamshidiNoncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran

Mohsen SoosanabadiDepartment of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran

Hossein Darvishdarvish_mg@yahoo.comNeuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran

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.

Keywords: Gyrate Atrophy, Mutation, Ornithine Aminotransferase, Vitamin B6

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