What is Coats Plus Syndrome (CRMCC)?
Cerebroretinal Microangiopathy with Calcifications and Cysts or Coats Plus Syndrome (CRMCC) is an inherited rare genetic disorder, which affects multiple organs. This syndrome is characterized by an eye disorder called Coats disease. In addition, there are abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
What Are the Symptoms of CRMCC?
Symptoms of CRMCC may include:
- Premature birth
- Impaired vision, luekokoria, redness, and irritation of the eye due to retinal detachment and glaucoma
- Seizures
- Spasticity
- Partial epilepsy
- Ataxia
- Cognitive impairment
- Migraine-like headaches
- Recurrent intestinal bleeding
- Anemia
- Osteopenia
- Thin, greying hair
- Café au lait spots
- Nail dystrophy
- Poor overall growth
How Do You Get Coats Plus Syndrome (CRMCC)?
CRMCC is caused by mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres. Telomeres are found at the end of chromosomes which trigger the cell to either stop dividing or to self-destruct. More research is needed to determine how these mutations cause the symptoms of Coats plus syndrome.
How Is CRMCC Diagnosed?
Retinal changes can be identified by an ophthalmologist. MRI can show any white matter changes and cysts in the brain. Spinal tap and blood test results are typically normal but may find anemia and thrombocytopenia in some children.
Is There a Treatment for CRMCC?
There is no treatment that can cure CRMCC and treatment is symptomatic.