ArticleDocumenta ophthalmologica. Advances in ophthalmology2014
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 25 citations in OpenAlex.
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Combined intraocular and intravenous gene delivery for therapy of gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Combinatorial gene therapy for gyrate atrophy of the choroid and retina.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.International ophthalmology · 2024Article
- Article
- Ornithine aminotransferase promoted the proliferation and metastasis of non-small cell lung cancer via upregulation of miR-21.Journal of cellular physiology · 2019Article
- Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.Ophthalmic genetics · 2018Article
- Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic Pathways.Biology · 2017Review
- Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.Case reports in ophthalmological medicine · 2015Article
- A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.Journal of ophthalmic & vision researchArticle
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7 authors at 1 institution in 1 country.
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Abstract
backgroundGyrate atrophy (GA) of the choroid and retina is an extremely rare inherited chorioretinal dystrophy. Ornithine aminotransferase (OAT) gene mutations are identified in patients with GA. The purpose of this study was to report a novel deletion mutation of the OAT gene and describe clinical features of two brothers with GA in a Japanese family.
methodsWe performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp biomicroscopy, dilated funduscopy, fundus autofluorescence imaging, optical coherence tomography, visual field testing, and full-field electroretinography (ERG). Serum ornithine concentrations and OAT activities were analyzed. Mutation screening of the OAT gene was performed using Sanger sequencing.
resultsBoth brothers had compound heterozygous mutations (p.K169DfsX10 and p.R426X), one of which was novel. Their unaffected parents carried one of the mutations heterozygously. An arginine-restricted diet was started in the younger brother at the age of 2 years, while the diet was not initiated in the older brother until the age of 6 years. After more than 15 years of follow-up, the dietary treatment seemed to slow the progression of the chorioretinal lesions in the younger brother. However, when compared at the same age, the younger brother had more reduced ERG amplitudes and constricted visual fields than his older brother.
conclusionsWe identified a novel frameshift mutation (p.K169DfsX10) in the OAT gene. While an early arginine-restricted dietary treatment suppressed the fundus changes of GA to some degree in the younger brother, the efficacy of suppressing the progression of visual function loss could not be clearly determined.
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