OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina

@article{Katagiri2014OATMA,
  title={OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina},
  author={S. Katagiri and T. Gekka and T. Hayashi and H. Ida and T. Ohashi and Y. Eto and H. Tsuneoka},
  journal={Documenta Ophthalmologica},
  year={2014},
  volume={128},
  pages={137-148}
}
AbstractBackground Gyrate atrophy (GA) of the choroid and retina is an extremely rare inherited chorioretinal dystrophy. Ornithine aminotransferase (OAT) gene mutations are identified in patients with GA. The purpose of this study was to report a novel deletion mutation of the OAT gene and describe clinical features of two brothers with GA in a Japanese family.MethodsWe performed ophthalmic examinations, including best-corrected visual acuity, slit-lamp biomicroscopy, dilated funduscopy, fundus… Expand
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