Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine [PDF]
GMS Ophthalmology Cases, 2020 We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration.
Labiano, Aubhugn T., Arroyo, Milagros H.
doaj +3 more sources
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Gyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in the OAT gene, encoding the enzyme ornithine δ-aminotransferase.
Eleanor Palmer +10 more
doaj +3 more sources
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis [PDF]
Oman Journal of Ophthalmology, 2016 Gyrate atrophy of choroid and retina is an autosomal recessive condition characterized by peripheral multiple sharp areas of chorioretinal atrophy which become confluent with age.
Koushik Tripathy +3 more
doaj +3 more sources
Vision on gyrate atrophy: why treat the eye? [PDF]
EMBO Molecular Medicine, 2023 Abstract In the April issue of this Journal, Boffa and coworkers put forward a new therapeutic approach for Gyrate Atrophy of the Choroid and Retina (GACR; OMIM 258870) (Boffa et al, 2023). The authors propose to apply gene therapy to the liver for GACR, a metabolic disease primarily affecting eyesight due to ...
Arthur A Bergen +18 more
openaire +5 more sources
Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy [PDF]
American Journal of Ophthalmology Case Reports, 2021 Purpose: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years. Observations: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood.
Sara García Caride +2 more
doaj +2 more sources
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy [PDF]
Molecular Genetics and Metabolism Reports, 2022 Gyrate atrophy of the choroid and retina (GACR) secondary to deficiency of ornithine aminotransferase (OAT) is a rare autosomal recessive metabolic disorder usually diagnosed in childhood when patients develop myopia and a characteristic retinal ...
Aneta Kaczmarczyk +5 more
doaj +2 more sources
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy [PDF]
Molecular Genetics and Metabolism Reports, 2022 Hyperornithinemia with gyrate atrophy of the choroid and retina (HOGA) is a severe recessive inherited disease, causing muscular degeneration and retinochoroidal atrophy that progresses to blindness.
Rocio Maldonado +6 more
doaj +2 more sources
Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province [PDF]
Human GenomicsBackground Gyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by OAT mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations.
Feng-Juan Gao +9 more
doaj +2 more sources
Obscured interdigitation zone at the early stage of gyrate atrophy: A case report [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: To report an early stage of gyrate atrophy (GA) of the retina and choroid for which spectral-domain optical coherence tomography (SD-OCT) images revealed an obscured interdigitation zone (IZ).
Keisuke Nitta, Ryo Mukai, Hideo Akiyama
doaj +2 more sources
Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child [PDF]
Oman Journal of OphthalmologyGyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive ...
Nguyen Minh-Phu +4 more
doaj +2 more sources