Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

@article{Shimizu2015NextGenerationSM,
  title={Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia},
  author={Kayo Shimizu and Akio Oishi and Maho Oishi and Ken Ogino and Satoshi Morooka and Masako Sugahara and Norimoto Gotoh and Nagahisa Yoshimura},
  journal={Case Reports in Ophthalmology},
  year={2015},
  volume={6},
  pages={246 - 250}
}
We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In addition, the presence of macular hole in 1 of the 2 patients, together with a previous report… 

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