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   Articles with "gyrate atrophy" as a keyword



A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)

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recommendations! Published in 2024 at "Graefe's Archive for Clinical and Experimental Ophthalmology"

DOI: 10.1007/s00417-024-06540-8

Abstract: Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive inherited metabolic disorder (IMD) characterised by progressive retinal degeneration, leading to severe visual impairment. The rapid developments in ophthalmic genetic therapies warrant knowledge… read more here.

Keywords: age; choroid retina; atrophy choroid; gyrate atrophy ... See more keywords

Multimodal imaging and genetic screening in Mexican patients with Gyrate atrophy: identification of novel OAT pathogenic variants

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recommendations! Published in 2024 at "International Ophthalmology"

DOI: 10.1007/s10792-024-03260-0

Abstract: Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA). Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography… read more here.

Keywords: mexican patients; plasma levels; ornithine plasma; pathogenic variants ... See more keywords
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Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene

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recommendations! Published in 2021 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2020.1870149

Abstract: ABSTRACT Background: Gyrate Atrophy (GA) is a rare autosomal recessive disorder characterized by progressive chorioretinal degeneration. It is caused due to mutations in OAT gene that encodes a defective ornithine-δ-aminotransferase enzyme. We aim to identify… read more here.

Keywords: nonsense mutation; gyrate atrophy; oat gene; mutation ... See more keywords

A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease

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recommendations! Published in 2022 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2022.2098986

Abstract: ABSTRACT Background Loss of function variants in the ornithine aminotransferase (OAT) gene cause accumulation of ornithine levels, leading to gyrate atrophy. The benefit of ornithine-lowering therapies has been documented in a mouse model and young… read more here.

Keywords: ornithine; ornithine levels; pyridoxine; gyrate atrophy ... See more keywords

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

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recommendations! Published in 2025 at "Acta Ophthalmologica"

DOI: 10.1111/aos.17498

Abstract: Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia. Clinically, GACR… read more here.

Keywords: molecular cellular; mechanisms underlying; gyrate atrophy; atrophy ... See more keywords

Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report

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recommendations! Published in 2022 at "European Journal of Ophthalmology"

DOI: 10.1177/11206721221085868

Abstract: Purpose Gyrate atrophy of the choroid and retina (GA) is a rare genetic ophthalmologic condition which primarily manifests in childhood. It is characterized by hyperornithinemia and progressive chorioretinal atrophy. Patients may develop macular intraretinal cystic… read more here.

Keywords: intraretinal cystic; cystic spaces; treatment resistant; atrophy ... See more keywords
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Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

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recommendations! Published in 2023 at "European journal of ophthalmology"

DOI: 10.1177/11206721231178147

Abstract: INTRODUCTION Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of… read more here.

Keywords: retinal phenotype; atrophy; gyrate atrophy; clinical characteristics ... See more keywords

[Gyrate atrophy of the choroid and retina with ornithinemia and foveoschisis (clinical observation)].

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recommendations! Published in 2022 at "Vestnik oftalmologii"

DOI: 10.17116/oftalma202213805180

Abstract: Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to… read more here.

Keywords: atrophy choroid; gca; ornithinemia foveoschisis; foveoschisis ... See more keywords

A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.

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recommendations! Published in 2021 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"

DOI: 10.29271/jcpsp.2021.11.1354

Abstract: Gyrate atrophy is a metabolic disorder characterised by typical progressive circular chorioretinal atrophy, myopia and early developmental cataract. The disease is caused by deficiency of ornithine aminotransferase (OAT) enzyme. Although OAT is expressed in most… read more here.

Keywords: gyrate atrophy; foveoschisis; atrophy; deficiency ... See more keywords
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Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT

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recommendations! Published in 2024 at "Genes"

DOI: 10.3390/genes15081020

Abstract: This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation… read more here.

Keywords: variant allele; gyrate atrophy; oat; carrier one ... See more keywords

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.

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recommendations! Published in 2020 at "Arquivos brasileiros de oftalmologia"

DOI: 10.5935/0004-2749.20200028

Abstract: Gyrate atrophy is a rare metabolic autosomal recessive disorder caused by ornithine aminotransferase enzyme deficiency that leads to characteristic progressive, degenerative chorioretinal findings. Patients complain mostly of low vision, night blindness, and peripheral vision loss.… read more here.

Keywords: gyrate atrophy; atrophy; brinzolamide nepafenac; topical brinzolamide ... See more keywords