Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy

@inproceedings{AbdallaElsayed2017HeterozygousMI,
  title={Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy},
  author={Maram EA Abdalla-Elsayed and Patrik Schatz and Christine Neuhaus and A O Khan},
  booktitle={Molecular vision},
  year={2017}
}
Purpose Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results A now 17-year-old boy presented 12 years earlier with a… CONTINUE READING

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