More symptom information
Learn more about specific symptoms of this leukodystrophy in these pages.
Also known as: CRMCC (former name); Cerebroretinal Micro-angiopathy with calcifications and cysts
Coats plus syndrome is a rare genetic multisystem condition caused by mutations in the CTC1, STN1, or POT1 gene and characterised by abnormal small blood vessels affecting the brain, eyes, bones and gastrointestinal tract. People with Coats plus syndrome are affected by an eye condition called Coats disease. Coats disease causes abnormally enlarged (dilated) blood vessels in their retina leading to vision problems. Unlike Coats disease, people with Coats plus syndrome also have abnormalities in the brain, bones and gastrointestinal system. Additional symptoms may include brain calcifications, intellectual disability and skeletal abnormalities. Management is supportive, aiming to address the specific symptoms and provide the best possible quality of life for affected individuals.
A new diagnosis can be overwhelming as it brings unique challenges and adjustments, but it is important to remember that you are not alone.
Coats plus syndrome is caused by mutations in the CTC1, STN1, or 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.
Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.
Genetic counselling is essential for affected families due to the inheritance pattern of the condition. This is available at hospitals and Regional Genetic Centres. Please contact your doctor if you have any questions.
Learn more about genetic testing and counselling here.
People with Coats plus syndrome are affected by an eye condition called Coats disease. Coats disease causes 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.
Unlike Coats disease, people with Coats plus syndrome also have abnormalities in the brain, bones and gastrointestinal system. 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 in those with Coats plus syndrome 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.
Symptomatic management includes monitoring of eyes, treatment of seizures, monitoring bone health, gastrointestinal health and supporting development.
Learn more about specific symptoms of this leukodystrophy in these pages.
Although there is currently no specific treatment for this leukodystrophy, there is condition management information that may be useful for you in managing your or your loved one’s leukodystrophy.
There may be a current clinical trial, natural history study or patient registry for your condition. Check our current research page and ask your specialist doctor for more information.
We understand that research is a significant priority and source of hope for the leukodystrophy community. There is more research in leukodystrophy now than ever before. Alex TLC actively promotes and supports research in a number of ways.
Every month we update our database of research summaries with the most recent research. This includes summaries of leukodystrophy articles, clinical trials and pharmaceutical press releases. Our summaries allow our community to read about relevant recent research developments in a format that is easily understood.
Learn about the ways in which we can help in the how we support you section. When you or a family member are diagnosed with a leukodystrophy it may be difficult to know where to go for more advice – this information could help.
Our services and equipment section is here to help leukodystrophy patients and their families manage their condition. All information is based on our knowledge of UK services, however, our team are happy to receive support requests from other countries – email us.
You may be introduced to many different medical professionals which you may find confusing. View our guide to the health and care professionals you may encounter, with short descriptions about what they do.
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