Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. Its hallmarks are widespread progressive calcifications, cysts 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. Cerebroretinal microangiopathy with calcifications and cysts is alternatively known as the Coats plus syndrome, a reference to its most typical ocular phenotype. Signs and Symptoms
Presentation
Before birth
A child who has inherited this disorder will grow slower than normal in the uterus before birth and typically will be born before term. The pregnancy can be complicated by gestational hypertension and pre-eclampsia. After birth
The majority of affected children present with symptoms and signs relating to the eyes such as leukokoria, redness, irritation and impaired vision, which result from retinal detachment and glaucoma. A minority present with seizures or spasticity. The time of onset of symptoms varies from infancy to adolescence. Because a child born before term will need to undergo screening for retinopathy of prematurity, some will have abnormalities in their retinal blood vessels detected when they have no symptoms yet. Brain
Neurologic symptoms and signs vary depending on the site of the brain abnormalities. Common symptoms are partial epilepsy, asymmetric spasticity, ataxia and cognitive impairment. The latter affects visuospatial and visuoconstructive skills first.
However, genetic and family studies have demonstrated that the presence of Darwins tubercle may be more likely to be influenced by ones environment or developmental accidents than it is by genetics alone. There is no clear argument for whether the trait has significance in sexual dimorphism studies or age related studies. In some studies, there is clear data that Darwins tubercle is not associated with sex. In contrast, others indicate that there is a correlation with sexual dimorphism between men and women, where men tend to have the tubercle more than women in some populations. Two studies indicate that older men tend to have greater expression of Darwins tubercle than do older women. See also
Human vestigiality

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