Coats plus syndrome

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. The most characteristic features are retinal telangiectasia and exudates, and a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts. It has been reported that mutations CTC1 and STN1 cause CRMCC. Both of them are members of CST complex, that plays multiple roles in telomere C-strand synthesis.