Overview
Coats plus syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts (CRMCC), is a very rare genetic disorder that affects multiple organs in the body. It is caused by problems with a gene involved in maintaining the protective caps (called telomeres) on the ends of chromosomes. The disease primarily affects the eyes, brain, bones, and gastrointestinal system. The eye problems in Coats plus syndrome resemble a condition called Coats disease, which involves abnormal blood vessels in the retina that can leak fluid and lead to vision loss or retinal detachment. In the brain, the disease causes abnormal calcium deposits (calcifications), small cysts, and changes in the white matter, which can lead to seizures, movement difficulties, and cognitive problems. Many patients also develop poor bone health, with bones that break easily or have an unusual appearance on X-rays. Gastrointestinal bleeding from abnormal blood vessels in the stomach and intestines is another serious complication. There is currently no cure for Coats plus syndrome. Treatment focuses on managing individual symptoms, such as laser therapy or surgery for eye problems, medications for seizures, and blood transfusions or other interventions for gastrointestinal bleeding. The condition tends to worsen over time, and early diagnosis is important so that a care team can monitor and address complications as they arise.
Key symptoms:
Vision loss or declining eyesightAbnormal blood vessels in the retina (Coats disease-like eye changes)Retinal detachmentSeizures or epilepsyBrain calcifications visible on imagingWhite matter changes in the brain (leukoencephalopathy)Brain cystsGastrointestinal bleedingBones that break easily or look abnormal on X-raysPoor growth or short statureSparse or graying hair at a young ageAbnormal fingernails or toenailsAnemia or low blood countsLiver problems including portal hypertensionMovement difficulties or poor coordination
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Coats plus syndrome.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Coats plus syndrome.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition right now, and what symptoms should I watch for as the disease progresses?,How often should we schedule eye exams, brain imaging, and blood tests?,What is the plan if my child has a gastrointestinal bleeding episode?,Are there any clinical trials or research studies that my child might be eligible for?,What seizure medications are safest and most effective for this condition?,Should other family members be tested for the gene mutation?,What educational and developmental support services should we set up for my child?
Common questions about Coats plus syndrome
What is Coats plus syndrome?
Coats plus syndrome, also known as cerebroretinal microangiopathy with calcifications and cysts (CRMCC), is a very rare genetic disorder that affects multiple organs in the body. It is caused by problems with a gene involved in maintaining the protective caps (called telomeres) on the ends of chromosomes. The disease primarily affects the eyes, brain, bones, and gastrointestinal system. The eye problems in Coats plus syndrome resemble a condition called Coats disease, which involves abnormal blood vessels in the retina that can leak fluid and lead to vision loss or retinal detachment. In the
How is Coats plus syndrome inherited?
Coats plus syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Coats plus syndrome?
2 specialists and care centers treating Coats plus syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.