Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal microangiopathy with calcifications and cysts, abbreviated CRMCC, is a rare genetic disorder that affects multiple organs. Its hallmarks are widespread progressive calcifications, cysts and abnormalities of the white matter of the brain, usually together with abnormalities of the blood vessels of the retina. Additional features include poor prenatal growth, preterm birth, anemia, osteopenia and bone fractures, and gastrointestinal bleeding. It is caused by compound heterozygous mutations in the CTC1 gene, a component of telomere maintenance, but its exact pathophysiology is still not well understood. It is alternatively known as Coats plus syndrome, after its most typical eye finding.