Vision on gyrate atrophy: why treat the eye? [PDF]
EMBO Mol Med, 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 ...
Bergen AA +9 more
europepmc +5 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 +2 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
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 +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
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
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
Partial regression of foveoschisis following vitamin B6 supplementary therapy for gyrate atrophy in a Chinese girl [PDF]
BMC Ophthalmology, 2021 Background To report a case of genetically confirmed gyrate atrophy (GA) of choroid and retina, who showed partial regression of foveoschisis following vitamin B6 supplementary therapy.
Wenxue Guan +3 more
doaj +2 more sources
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report [PDF]
BMC Ophthalmology, 2018 Background To report the results of multimodal imaging of a biochemically confirmed case of a family with gyrate atrophy (GA) associated with foveoschisis and macular pseudohole.
Imène Zhioua Braham +6 more
doaj +2 more sources