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

Romina Romaniello, Filippo Arrigoni, Andrea Citterio, Alessandra Tonelli, Cinzia Sforzini, Carmelo Rizzari, Marco Pessina, Fabio Triulzi, Maria Teresa Bassi, Renato Borgatti

Research output: Contribution to journalArticle


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 and NDP genes in this patient shows the presence of compound heterozygosity for 2 mutations in CTC1 (c.775G>A, pV259M and a novel microdeletion c.1213delG) and a missense mutation in the NDP gene (c.182T>C, p.L61P). Based on these genetic findings and on the expression of both genes in endothelial cells, we postulate that microangiopathy might be a primary underlying pathologic abnormality in cerebroretinal microangiopathy with calcifications and cysts. This hypothesis is further supported by magnetic resonance imaging (MRI) data showing multiple minute calcifications in the deep gray nuclei and in terminal arteriolar zones.

Original languageEnglish
Pages (from-to)1702-1708
Number of pages7
JournalJournal of Child Neurology
Issue number12
Publication statusPublished - 2013



  • cerebral calcification
  • CTC1 genes
  • leukoencephalopathy
  • NDP gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

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