Living with Coats plus syndrome
An inherited condition with a retina disease called Coats disease, plus changes in the brain, bones, and digestive system.
Understanding Coats plus syndrome
In Coats disease, blood vessels in the retina are widened and twisted, leak fluid, and can cause retinal detachment and vision loss. People also have brain changes such as calcium deposits, cysts, and loss of white matter (leukodystrophy) that worsen over time. These can cause slow growth, movement problems, seizures, and a decline in thinking skills. Low bone density makes bones fragile. GARD lists onset in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes:
- Leaky, twisted blood vessels in the retina
- Vision loss
- Calcium deposits and cysts in the brain
- Movement problems and seizures
- Slow growth
- Weak, easily broken bones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hunter's Hope Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: cerebroretinal microangiopathy with calcfications and cysts; cerebroretinal microangiopathy with calcifications and cysts; crmcc
Patient organizations
- Hunter's Hope FoundationCoats plus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Coats plus syndrome.
Explore research for Coats plus syndrome
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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