<unk>  (CRMCC) is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progressive<unk> ,<unk>  and abnormalities of the white matter of the brain, usually occurring 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 conserved telomere maintenance component 1 (CTC1) gene, but its exact pathophysiology is still not well understood.<unk>  is alternatively known as the Coats plus syndrome, a reference to its most typical ocular phenotype.
Cerebroretinal microangiopathy with calcifications and cysts
Intraretinal microvascular abnormalities
Punctate inner choroiditis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chronic relapsing inflammatory optic neuropathy
Diffuse unilateral subacute neuroretinitis
Progressive outer retinal necrosis
Giant retinal ganglion cells