Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

@article{Romaniello2013CerebroretinalMW,
  title={Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.},
  author={R Romaniello and Filippo Arrigoni and Andrea Citterio and Alessandra Tonelli and Cinzia Sforzini and Carmelo Rizzari and Marco Pessina and Fabio Triulzi and Maria Teresa Bassi and Renato Borgatti},
  journal={Journal of child neurology},
  year={2013},
  volume={28 12},
  pages={1702-8}
}
Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. Here we describe a boy affected by Norrie disease who developed typical features of cerebroretinal microangiopathy with calcifications and cysts. Direct sequencing of the CTC1… CONTINUE READING