Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene
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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
Sign Up to like & getrecommendations! 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
Regression of treatment-resistant gyrate atrophy-associated intraretinal cystic spaces using long-term diet restriction: A case report
Sign Up to like & getrecommendations! 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
Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.
Sign Up to like & getrecommendations! 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)].
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.
Sign Up to like & getrecommendations! 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