CRMCC (former name); Cerebroretinal Micro-angiography with calcifications and cysts
Inheritance from both parents will result in the disease
Age range at onset:
Specialists you may see:
The term “Coats plus” refers to an eye condition called Coats disease, plus abnormalities in the brain, bones and gastrointestinal system. Those with Coats disease have abnormally enlarged (dilated) blood vessels in their retina. These leak fluid causing the layers of the retina to separate in retinal detachment. This often results in loss of vision.
Brain abnormalities in this condition cause progressive difficulties such as slow growth, seizures, movement disorders and decreasing intellectual function. Osteopenia is common, as is anaemia causing pale skin and extreme tiredness. Abnormal bleeding in the gastrointestinal tract, portal hypertension and liver failure can be life-threatening. Life span is shortened and does not often exceed 30 years.
Less common symptoms include malformed fingernails and toenails, prematurely grey hair and abnormalities in pigmentation, such as light brown patches on the skin.
Coats plus syndrome is caused by mutations in the CTC1 gene, the STN1 gene or the POT1 gene.
The brain abnormalities of Coats plus are very similar to those of LCC, (Labrune syndrome). However LCC does not cause eye, bone, gut or blood problems and is caused by mutations in a different gene from those causing Coats Plus.
Before the genetic causes of CP and LCC were discovered it was thought that both of these conditions might be the same condition which was called CRMCC.