Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease

Abstract

An 8-month-old girl presented with vitreous hemorrhage, peripheral retinal arteriovenous anastomosis, and hypoplasia of the thumb. Magnetic resonance imaging of the brain showed multiple hyperintensities, cysts, and calcifications in the white matter. DNA testing showed a mutation in one allele of the CTC gene, supporting the diagnosis of cerebroretinal microangiopathy with calcifications and cysts (CRMCC), or Coats plus disease, despite which designation this condition can present without subretinal exudate. In infants with peripheral retinal vascular disease, neuroimaging can identify the characteristic abnormalities of CRMCC.