Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). This is caused by mutations of the CTC1 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations of the CTC1 gene
  • The transmission is autosomal recessive

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Synonym

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Genetics

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Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Synonym

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References

  1. Xu W, Zhao J, Zhu Y, Zhang W. Cerebroretinal microangiopathy with calcifications and cysts: A case report. Medicine (Baltimore) 2017; 96:e5545.
  2. Bisserbe A, Tertian G, Buffet C, et al. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Rev Neurol (Paris) 2015; 171:445-449.
  3. Xu W, Zhao J, Zhu Y, Zhang W. Cerebroretinal microangiopathy with calcifications and cysts: A case report. Medicine (Baltimore) 2017; 96:e5545.
  4. Bisserbe A, Tertian G, Buffet C, et al. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Rev Neurol (Paris) 2015; 171:445-449.

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