Clinical and genetic features in Italian Bietti crystalline dystrophy patients

@inproceedings{Rossi2013ClinicalAG,
  title={Clinical and genetic features in Italian Bietti crystalline dystrophy patients},
  author={Settimio Rossi and Francesco Testa and Anren Li and Fulya Yaylacioğlu and Carlo Gesualdo and J Fielding Hejtmancik and Francesca Simonelli},
  booktitle={The British journal of ophthalmology},
  year={2013}
}
AIM The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). METHODS All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene were sequenced. The effect of mutations on protein function was estimated by a combination of web based… CONTINUE READING
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