Imaging findings
The most consistent finding are widespread calcifications, which involve
the white matter of the cerebrum mostly adjacent to the junction with the grey matter, the thalami, the basal ganglia and the brainstem. The white matter of the cerebellum and the dentate nuclei are less often involved. However, the brain may appear normal in the neonatal period. The calcifications are visible both with computed tomography and with magnetic resonance imaging. Magnetic resonance imaging shows additionally diffuse or patchy white matter changes, especially in the periventricular region, the thalami and the internal capsule. Cerebellar and brainstem lesions are less common. Imaging also uncovers parenchymal cysts situated mainly in the thalamic region and more rarely in the brainstem, the parietal lobe and the frontal lobe. The long bones may be osteopenic and various skeletal changes are found in several patients, such as metaphyseal sclerosis and mild flaring, which is most pronounced in the femur and  tibia. Laboratory findings
The cerebrospinal fluid and blood tests are typically normal, except for anemia and thrombocytopenia in some children. Screening
Because of the rarity of the syndrome, it is not routinely screened before birth. Prenatal diagnosis is possible in families in which a prior child has been diagnosed, because the responsible gene CTC1is known. Management
Seizures are managed with anticonvulsive medications. Laser coagulation or cryoablation (freezing) of the retina can be used to destroy the abnormal blood vessels. Retinal detachment is repaired with a scleral buckle or with vitrectomy.
General
Most patients continue to grow poorly after birth. Genetics
Typical childhood-onset cerebroretinal microangiopathy with calcifications and cysts is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene located in chromosome 17p.31. A late-onset phenotype without abnormal eye findings from a CTC1 mutation has been reported.CTC1 is a component of the CST complex, which is additionally composed of oligonucleotide/oligosaccharide-binding fold containing 1 (coded by OBFC1, also known as STN1) and telomerase capping complex subunit homolog 1 (coded by TEN1). CST complex is evolutionarily conserved. It binds to single-stranded DNA and associates with a fraction of telomeres, potentially protecting them. Pathophysiology
Angiomas and numerous abnormal, small, dilated telangiectatic vessels with thickened, sclerotic and calcified walls have been found in those brain areas which also show calcifications.By analogy to Coats disease, the exudative retinopathy is thought to result from breakdown of the blood-retinal barrier at the level of the vascular endothelial cell, resulting in leakage of blood plasma and lipid. Macrophages then migrate into the retina and subretinal space and digest the lipid. The accumulation of the proteinaceous exudate and macrophages thickens the retina, leading to exudative retinal detachment. Diagnosis
Clinical
The retinal changes are easily identified by ophthalmoscopy, which is performed under general anesthesia if the child is very young. The abnormal vessels are even better seen with fluorescein angiography. In advanced disease, glaucoma is diagnosed by measuring intraocular pressure and cataract by using slit lamp biomicroscopy.