Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

@inproceedings{Yzer2012OcularAE,
  title={Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290},
  author={Suzanne Yzer and Anneke I. den Hollander and Irma L{\'o}pez and Jan-Willem R. Pott and Jan Tjeerd H.N. de Faber and Frans P. M. Cremers and Robert Koenekoop and L. Ingeborgh van den Born},
  booktitle={Molecular vision},
  year={2012}
}
PURPOSE This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). METHODS Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequencing or with heteroduplex analysis. Ophthalmic examinations were performed on all patients. Scans of the central nervous system were reassessed in three patients and obtained in two. Renal function… CONTINUE READING