Associated Papers
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs MJN et al.
Acta Ophthalmologica, 2025
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.
da Palma MM et al.
Ophthalmic Genetics, 2023
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R et al.
Frontiers in Molecular Biosciences, 2021
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Doimo M et al.
Human Mutation, 2013
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI et al.
Ophthalmology, 2012
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Mashima YG et al.
Ophthalmic Genetics, 1999
B6-responsive disorders: a model of vitamin dependency.
Clayton PT
Journal of Inherited Metabolic Disease, 0
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Balfoort BM et al.
Molecular Genetics and Metabolism, 0
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
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