ArticleBiochemia medica2018
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the
Article in Biochemia medica, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Early proteomic and metabolic signatures of liver and eye in OAT-deficient mice.Experimental eye research · 2026Article
- Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?Acta ophthalmologica · 2025Review
- Ocular Tissue-Specific Amino Acid Metabolism in Gyrate Atrophy.Advances in experimental medicine and biology · 2025Review
- Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants.International ophthalmology · 2024Article
- A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.Journal of ophthalmic & vision researchArticle
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive disorder that occurs due to deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT). Hyperornithinemia causes degeneration of the retina with symptoms like myopia, reduced night vision and progressive vision loss. Our patient is a 10-year-old girl with impaired vision and strabismus. As part of the metabolic work-up, plasma amino acid analysis revealed significantly increased concentration of ornithine (1039 μmol/L; reference interval 20 - 155 μmol/L). Molecular genetic analysis revealed homozygous mutation in exon 7 of the
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Registered trials
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