Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

@article{Nakamura2004EnhancedSS,
  title={Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).},
  author={Yosuke Nakamura and Takaaki Hayashi and Kenichi Kozaki and Akiko Kubo and Satoshi Omoto and Akira Watanabe and Kazushige Toda and Tomokazu Takeuchi and Tamaki Gekka and Kenji Kitahara},
  journal={Acta ophthalmologica Scandinavica},
  year={2004},
  volume={82 5},
  pages={616-22}
}
PURPOSE To describe the clinical characteristics of a Japanese male patient with enhanced S-cone syndrome (ESCS) and investigate the existence of mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor. METHODS Fundus examinations, fluorescein angiography, colour vision tests, spectral sensitivity, and full-field and spectral electroretinography were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction (PCR… CONTINUE READING

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