Cerebroretinal microangiopathy with calcifications and cysts (often shortened to CRMCC) is a very rare inherited disorder that mainly affects the brain and the eyes, and can also affect bones, blood, and the gut. The core problem is disease of very small blood vessels (microangiopathy). Over time, this can lead to brain calcifications (tiny calcium deposits), brain cysts (fluid-filled spaces), and white-matter changes (leukoencephalopathy), plus retinal blood-vessel leakage that can damage vision.
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also called Coats plus syndrome, is a very rare inherited disease that affects small blood vessels in the brain, eyes (retina), bones, bone marrow, and sometimes the gut.[1][2] In this condition, tiny brain vessels slowly become blocked, leading to abnormal calcium deposits (calcifications), fluid-filled spaces (cysts), and damage to the white matter that carries signals in the brain.[1][3] The retina develops fragile, leaking vessels that look similar to Coats disease, causing exudates, bleeding, and retinal detachment, which can seriously reduce vision.[1][3] Children are often small at birth, may be born early, and later develop anemia, fragile bones, and sometimes life-threatening intestinal bleeding.[1][2] Most cases are caused by changes (mutations) in the CTC1 gene, which is part of a complex that helps protect chromosome ends (telomeres).[2][3] Because this disease affects many organs and is progressive, care usually needs a team of specialists such as neurologists, ophthalmologists, hematologists, gastroenterologists, and rehabilitation experts.[1][3][9][10]
Another names
CRMCC is widely described as the same disorder as Coats plus syndrome (because the eye findings can look like Coats disease “plus” problems in other organs). In some medical papers, CRMCC is discussed as being on a spectrum with leukoencephalopathy with calcifications and cysts (LCC), because the brain imaging pattern can be very similar.
Types
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CRMCC1 (CTC1-related): the most classic form; often called Coats plus syndrome.
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CRMCC2 (STN1-related): a related “Coats plus” form caused by changes in STN1.
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Coats plus / CRMCC spectrum with telomere-biology overlap: some people also show features seen in telomere disorders (like skin, nail, bone marrow, or growth issues).
Causes
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CTC1 gene change (mutation) can cause CRMCC by disrupting telomere maintenance and small-vessel health, leading to the brain-eye pattern.
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STN1 gene change (mutation) can cause a Coats-plus/CRMCC form, also linked to telomere and genome instability.
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Autosomal-recessive inheritance (two changed copies) is the usual genetic mechanism; a child is affected when both parents pass on a changed gene copy.
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Small-vessel blockage (obliterative microangiopathy) in the brain is considered a key disease process that can slowly injure tissue.
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Slow tissue injury (chronic ischemia) from poor tiny-vessel flow can lead to scarring and later calcification.
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Dystrophic calcification after damage means calcium deposits form in areas of old injury, not because calcium in blood is high.
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Cyst formation after tissue loss can happen when injured brain tissue breaks down and leaves a fluid space.
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White-matter damage (leukoencephalopathy) can occur secondarily from long-term vessel disease and brain injury.
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Blood-retina barrier breakdown can allow fluid and fats to leak from retinal vessels, causing exudates and vision loss.
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Retinal telangiectasia (abnormally widened retinal vessels) is a common eye-side vessel problem that can bleed or leak.
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Systemic (whole-body) small-vessel fragility can contribute to bleeding problems in organs like the gut.
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Bone weakness (osteopenia) can be part of the disorder and may be linked to chronic disease effects and poor growth.
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Bone fractures may occur because bones can be thin and fragile in some affected people.
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Chronic anemia can happen in some patients and may worsen tiredness and weakness.
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Bone marrow failure (in some cases) can occur in the wider “telomere-biology” overlap picture.
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Poor growth / low birth weight is reported in some people and reflects multi-system involvement.
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Brain inflammation-like appearance is usually not the main cause; the pattern is more consistent with vascular injury than infection.
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Family history of similar illness increases risk because it is inherited; the “cause” is the shared gene change in the family.
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Consanguinity (parents related by blood) can raise the chance of recessive disorders like CRMCC in some populations.
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Different mutations can change severity (phenotypic variability), so symptoms can start earlier or later and be mild or severe.
Symptoms
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Vision problems (blurred vision, poor vision in one or both eyes) can occur from retinal leakage and damage.
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Retinal exudates (yellow-white deposits) can build up because leaking fluid contains fats and proteins.
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Retinal detachment may happen when leaked fluid lifts the retina, which can cause major vision loss.
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Seizures can occur when brain tissue is irritated or scarred near calcifications or cysts.
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Developmental delay (late sitting, walking, or learning) can happen if the brain is affected early.
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Cognitive decline (worsening thinking or memory) may appear in progressive cases.
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Spasticity (stiff muscles, tight legs) can happen when brain pathways in white matter are damaged.
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Ataxia (poor balance, unsteady walking) can occur if coordination pathways are involved.
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Dystonia (twisting movements or abnormal postures) can occur with deep brain involvement.
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Headache or raised pressure signs can occur if cysts grow or block fluid spaces in the brain.
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Weakness or easy tiredness can be linked to anemia or chronic illness.
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Bone pain or frequent fractures may occur if bones are fragile.
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Gastrointestinal bleeding (blood in stool, vomiting blood, black stool) can happen due to gut vessel problems in some patients.
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Poor growth / short stature can be seen due to multi-system disease effects.
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Skin, nail, or mouth changes in some cases (telomere-overlap features) can appear in a subset of patients.
Diagnostic tests
Physical exam (clinical exam)
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Full neurologic exam checks tone, strength, reflexes, balance, and walking to look for spasticity or ataxia.
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Eye/vision screening checks visual behavior, visual acuity (if possible), and obvious eye asymmetry.
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Growth measurements (height, weight, head size) help detect poor growth or unusual head growth over time.
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Bone and joint exam looks for tenderness, deformity, and signs of past fractures.
Manual test (bedside functional tests)
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Gait and balance tests (heel-to-toe walking, standing with feet together) can show ataxia or spastic gait.
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Cranial nerve bedside testing (eye movements, facial strength, swallow quality) helps map brain pathway involvement.
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Bedside cognitive screening (simple memory, attention, language tasks) can detect learning issues or decline.
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Basic vision function checks (pupil reaction, tracking objects) can suggest retinal/visual pathway disease.
Lab and pathological tests
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Complete blood count (CBC) looks for anemia or low platelets, which can happen in some patients.
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Iron studies and nutrition labs can help rule out common reasons for anemia and weakness, so CRMCC-related causes are clearer.
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Stool occult blood test checks hidden gut bleeding when there is anemia or dark stools.
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Bone metabolism labs (like vitamin D, calcium/phosphate if clinician chooses) can support evaluation of osteopenia risk.
Electrodiagnostic tests
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EEG (electroencephalogram) records brain electrical activity to support seizure diagnosis and seizure type.
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Visual evoked potentials (VEP) may be used in some centers to check how well signals travel from the eye to the brain.
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Nerve conduction studies / EMG (when needed) can help rule out other nerve or muscle diseases if weakness is unclear.
Imaging tests
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Brain CT scan is very good for seeing calcifications, which are a key clue in CRMCC.
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Brain MRI shows white-matter changes and cysts, and helps track growth or shrinkage of cysts over time.
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Eye fundus exam (ophthalmoscopy) lets an eye doctor directly see retinal telangiectasia, bleeding, or exudates.
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Fluorescein angiography (retina dye test) can show where retinal vessels leak and which areas are abnormal.
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Genetic testing (CTC1, STN1 and related genes) confirms the diagnosis and helps with family counseling and future pregnancy planning.
Non-pharmacological treatments (therapies and other care)
Because CRMCC is multi-system and chronic, non-drug therapies are very important for quality of life and long-term function.[1][3][9] Below are key options (I focus on the most practical ones; in real life, the care plan is individual).
1. Physiotherapy and mobility training
Physiotherapy helps keep muscles strong, joints flexible, and movement as smooth as possible when brain and spinal pathways are damaged.[1][3] Regular stretching, balance practice, and gait training can slow stiffness (spasticity), reduce contractures, and lower the risk of falls.[2][3] Simple home exercise programs designed by a therapist can make daily tasks like walking, transferring, and sitting safer and less tiring.[3]
2. Occupational therapy for daily activities
Occupational therapists teach children and adults how to manage daily skills such as dressing, writing, using tools, or computer access, even when coordination or vision is limited.[1][3] They can recommend adaptive equipment (special utensils, chairs, grab bars) and energy-saving strategies so patients can stay as independent as possible in school, work, and home life.[3]
3. Speech and swallowing therapy
If CRMCC affects the parts of the brain that control speech and swallowing, speech-language therapists can help.[1][2] They work on clearer speech, communication tools (pictures, devices), and safe swallowing strategies to reduce choking and aspiration risk.[2][3] Thickened fluids, posture changes, and paced eating can prevent food and liquid from going into the lungs, lowering pneumonia risk.[1][3]
4. Low-vision rehabilitation
Retinal damage can cause severe visual loss, double vision, or light sensitivity.[1][3][10] Low-vision specialists offer magnifiers, high-contrast reading materials, large-print devices, screen readers, and lighting adjustments to make the best use of remaining sight.[3][10] Orientation and mobility training helps patients move safely indoors and outdoors, even with poor vision.[10]
5. Educational support and special schooling
Many children with CRMCC need extra help in school because of vision problems, motor issues, fatigue, or learning difficulties.[1][2] Special education services can include individualized education plans, extra time for tests, enlarged print, accessible digital materials, and support teachers.[3] Early involvement of school teams and regular re-assessment help keep learning goals realistic but hopeful.[1]
6. Psychological counselling and family support
Living with a rare, progressive disease is stressful for the child and the whole family.[1][3] Psychologists and counsellors can help with coping skills, grief, anxiety, and behavior problems.[3] Support groups (even small online communities) reduce isolation and help families share practical tips about care, schooling, and navigating health systems.[9]
7. Nutritional counselling and feeding support
Poor appetite, swallowing problems, and intestinal bleeding can cause malnutrition and anemia in CRMCC.[1][2] A dietitian can plan energy-dense, iron- and vitamin-rich meals that are easy to chew and swallow.[2][9] When oral intake is not enough, feeding tubes or special formulas may be suggested to maintain weight and healing.[1][3]
8. Bone health and fall-prevention strategies
Patients often have osteopenia, thin bones, and fracture risk.[1][3][11] Non-drug measures include safe weight-bearing exercise, vitamin D from food and safe sunlight exposure, and fall-proofing the home (non-slip flooring, handrails, good lighting).[3] Bracing or protective gear may be advised for children with severe balance problems to prevent fractures.[11]
9. Regular eye and brain imaging follow-up
Scheduled eye exams, brain MRI/CT, and sometimes ultrasound let doctors track retinal vessels, brain calcifications, cysts, and white-matter damage.[1][2][10] This helps time interventions such as retinal laser therapy or surgery before permanent vision loss, and detect complications like increased intracranial pressure or large cysts.[3]
10. Genetic counselling and family planning
CRMCC is usually autosomal recessive, often due to CTC1 variants.[2][3][11] Genetic counselling explains inheritance (25% risk in each pregnancy when both parents are carriers), options for testing at the family level, and possible prenatal diagnosis in future pregnancies.[2][11] It also helps families understand that nothing they did caused the mutation and supports informed family-planning choices.
Drug treatments (symptom-based – key examples)
No medicine is currently approved specifically to cure cerebroretinal microangiopathy with calcifications and cysts.[1][2] Drugs are used “off-label” to control seizures, stomach bleeding, anemia, bone fragility, and other complications, following general FDA-approved indications for those problems.[4][5][6][7][8] Doses must always be set by specialists. Below are examples of commonly considered drug types (not a complete or personal treatment plan).
1. Levetiracetam (Keppra) – anti-seizure medicine
Levetiracetam is an antiepileptic drug approved to treat several types of seizures in adults and children.[4] It helps stabilize brain electrical activity and reduce abnormal bursts that cause seizures.[4] It is usually taken twice daily, with the dose gradually increased based on age, kidney function, and seizure control.[4] Common side effects include tiredness, dizziness, irritability, and mood changes, so behavior must be watched carefully.[4]
2. Valproic acid / valproate (Depakene, Depacon) – broad-spectrum antiepileptic
Valproic acid and valproate sodium are antiepileptic drugs used for many generalized and focal seizures.[5] They increase levels of gamma-aminobutyric acid (GABA), a calming brain chemical, and stabilize nerve cell firing.[5] Dose is adjusted to maintain a safe blood level and good seizure control.[5] Side effects can include weight gain, tremor, liver irritation, pancreatitis, and serious birth-defect risks, so monitoring and strict specialist supervision are essential.[5]
3. Acetazolamide (Diamox) – lowers certain pressures
Acetazolamide is a carbonic anhydrase inhibitor that reduces fluid production in the eye and brain, helping conditions like some glaucomas and raised intracranial pressure.[6] In CRMCC, it may be used to help control pressure-related symptoms such as headaches or eye pressure, under specialist guidance.[1][3] It is usually taken in divided daily doses.[6] Side effects can include tingling, taste changes, kidney stones, and metabolic acidosis, so lab monitoring is needed.[6]
4. Pantoprazole (Protonix) – proton pump inhibitor for stomach protection
Pantoprazole is a proton pump inhibitor that strongly reduces stomach acid.[7] In CRMCC, some patients have intestinal bleeding and may need acid suppression to protect the upper gut and reduce ulcer risk.[1][3][9] Pantoprazole is usually taken once daily; IV forms are used in hospital for bleeding.[7] Side effects can include headache, diarrhea, and, with long use, low magnesium and higher fracture risk, so duration is carefully considered.[7]
5. Iron preparations for anemia
Chronic blood loss from the gut and poor nutrition often cause iron-deficiency anemia in CRMCC.[1][2] Oral or intravenous iron products are used to rebuild iron stores and raise hemoglobin, improving energy and growth.[1][9] Doses depend on weight, iron level, and tolerance. Side effects include stomach upset, constipation, or, with IV iron, rare allergic reactions, so administration is done under medical supervision.
6. Blood transfusions and erythropoiesis-stimulating agents
When anemia is severe or sudden (for example after intestinal bleeding), packed red blood cell transfusions may be life-saving.[1][2] In some chronic marrow problems, doctors may also consider erythropoiesis-stimulating agents (ESAs) that stimulate red cell production in the bone marrow.[3] These medicines can raise hemoglobin but must be used carefully because they may increase clot risk and require close lab monitoring.
7. Zoledronic acid or other bisphosphonates – for bone fragility
Zoledronic acid is a potent intravenous bisphosphonate used for osteoporosis and cancer-related bone disease.[8] In selected patients with severe osteopenia and fractures, similar medicines may be considered to strengthen bones and reduce fracture risk.[1][11] Treatment is usually given as infusions at long intervals (for example once yearly in osteoporosis), and can cause flu-like symptoms, low calcium, and rare jaw bone complications.[8]
8. Antibiotics and antifungals for infections
Some CRMCC patients have low blood counts or fragile tissues, increasing infection risk.[1][2] Timely antibiotics (for bacteria) and antifungals (for fungal infections) are critical when fever or severe infection is suspected.[3][9] The choice and dose depend on the infection site, culture results, and kidney and liver function. Overuse is avoided to reduce resistance and side effects such as diarrhea or organ toxicity.
9. Antihypertensives and diuretics for blood pressure and fluid control
If small-vessel brain disease and kidney strain lead to high blood pressure, standard antihypertensive drugs may be used to keep blood pressure within safe ranges and reduce stroke risk.[2][3] In some patients with fluid overload or heart strain, diuretics help remove extra salt and water.[3] These medications require careful monitoring of blood pressure, electrolytes, and kidney function.
10. Pain-relief medicines for headaches, bone pain, and procedures
Headaches (from raised intracranial pressure), fractures, and procedures can be very painful in CRMCC.[1][2] Doctors may use carefully selected pain-relief drugs such as paracetamol (acetaminophen) and, when needed, short-term opioid medicines.[3] Non-steroidal anti-inflammatory drugs (NSAIDs) are often used with caution or avoided if there is kidney disease or bleeding risk.[3][9] Dose and duration are minimized to lower side effects like liver strain or constipation.
Dietary molecular supplements
There is no supplement that can reverse CRMCC, but some carefully chosen nutrients can support blood counts, bone health, and general strength when guided by a doctor or dietitian.[1][3][9]
1. Iron supplements (elemental iron)
Iron is essential for making hemoglobin in red blood cells. In CRMCC, frequent bleeding and poor intake often cause iron deficiency.[1][2] Oral iron (drops, syrups, tablets) or IV iron can rebuild stores, improve oxygen carrying capacity, and reduce fatigue.[1][9] Too much iron can be harmful, so doses are based on lab results, and side effects such as stomach upset or constipation are watched.
2. Folic acid
Folate is needed for DNA synthesis in rapidly dividing cells, including bone marrow cells that make blood.[2][3] Folic acid supplements support red and white blood cell production and may help reduce some anemia types.[3] However, folate alone cannot fix anemia from ongoing bleeding or bone-marrow failure, so it is always used as part of a broader plan.[1]
3. Vitamin B12
Vitamin B12 is another key nutrient for nerve function and red blood cell production.[2][3] In patients with low B12 or poor absorption, replacement by mouth or injection can correct macrocytic anemia and help nerve health.[3] Levels must be tested first, because giving B12 without checking can hide other problems, and not all anemia in CRMCC is due to B12 deficiency.[1]
4. Vitamin D and calcium
Vitamin D helps the gut absorb calcium and supports bone mineralization. Together with calcium, it can reduce the risk of fractures in patients with osteopenia.[1][3][11] In CRMCC, modest supplementation may be used alongside diet and weight-bearing exercise, with blood levels monitored to avoid excess calcium, especially when bisphosphonates or other bone drugs are used.[8][11]
5. Omega-3 fatty acids
Omega-3 fats from fish oil or algae oil have gentle anti-inflammatory effects and may support heart and vessel health.[3][9] While they do not treat the underlying microangiopathy, they can be part of a healthy diet pattern that supports brain and retinal function. They may thin the blood slightly, so doctors consider bleeding risk before recommending high doses.
Immune, regenerative and stem-cell-related treatments (selected)
Because CRMCC involves damaged small vessels and sometimes bone marrow failure, some patients may be evaluated for more advanced supportive or experimental therapies in specialized centres.[1][2][3] These are complex and not used in every case.
1. Hematopoietic growth factors (for low blood counts)
Drugs that stimulate bone marrow, such as erythropoiesis-stimulating agents for red cells or granulocyte colony-stimulating factors for white cells, may be considered in selected patients with chronic low counts and recurrent infections.[3] They act like signals telling the marrow to produce more blood cells. Benefits must be weighed against risks like clotting or bone pain, and they require frequent lab monitoring.
2. Intravenous immunoglobulin (IVIG) in selected immune-related problems
If part of the blood problem has an immune component (for example, immune-mediated platelet destruction), IVIG may sometimes be used.[3] It provides pooled antibodies from donors that can temporarily modulate the patient’s immune response. Effects are usually short-term, and treatment is expensive and given in hospital, so doctors reserve it for specific, serious situations.
3. Hematopoietic stem-cell transplantation (HSCT) – very specialized
In theory, replacing damaged bone marrow with healthy donor stem cells could help severe marrow failure in some telomere-related disorders, but in CRMCC this approach is still experimental and high-risk.[1][2][3] HSCT involves high-dose chemotherapy and transplant of donor cells, which can cause serious infections, graft-versus-host disease, and organ damage. Decisions are made only in expert centres after very careful discussion of risks and uncertain benefits.
Surgical and interventional treatments
1. Retinal laser therapy and cryotherapy
Abnormal retinal vessels can leak and cause exudates, bleeding, and retinal detachment.[1][3][10][12] Eye surgeons may use laser photocoagulation or cryotherapy (freezing) to seal these vessels, reduce leakage, and slow progression.[10][12] These procedures aim to preserve as much vision as possible and prevent painful complications like neovascular glaucoma, but several sessions may be needed.
2. Vitrectomy and retinal detachment repair
In advanced cases with vitreous hemorrhage or retinal detachment, vitrectomy (removing the gel inside the eye) and retinal re-attachment surgery may be considered.[1][3][10] A scleral buckle or internal tamponade (gas/oil) can hold the retina in place while it heals.[10] Surgery is technically difficult in fragile retinal tissue and carries risks of further bleeding or cataract, so timing is crucial.
3. Gastrointestinal surgery or endoscopic therapy for bleeding
Some patients develop severe gut bleeding from fragile, abnormal vessels in the stomach or intestines.[1][2][3] Endoscopic procedures (clips, cautery, injections) may stop active bleeding. In rare, localized lesions, segmental bowel resection might be needed. Because tissues are fragile and healing is slow, surgeons try to use the least invasive approach and coordinate closely with hematologists and intensivists.
Preventions and long-term safety tips
Because CRMCC is genetic, we cannot prevent it completely, but we can reduce complications and slow deterioration.[1][2][3][9]
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Early diagnosis and regular specialist follow-up help detect eye, brain, bone, and gut problems before they become emergencies.[1][3]
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Prompt treatment of infections and fever reduces the risk of sepsis and hospitalizations in patients with low immunity.[2][3]
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Fall-prevention and safe home design lower fracture risk in patients with weak bones and balance problems.[1][11]
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Healthy, nutrient-dense diet supports growth, anemia management, and tissue repair.[1][9]
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Avoiding unnecessary NSAIDs and blood-thinning medicines can reduce bleeding risk, especially with gut involvement.[3][9]
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Regular dental and skin care help prevent infections that could spread in a fragile immune system.[3]
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Vaccinations (as advised by specialists) protect against pneumonia, influenza, and other infections that can be particularly severe in CRMCC.[3][9]
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Genetic counselling for family members can prevent recurrence in future pregnancies by informing choices like carrier testing and prenatal diagnosis.[2][11]
When to see doctors urgently
People with CRMCC should have routine visits with neurologists, ophthalmologists, hematologists, and other specialists, but some signs need urgent medical attention.[1][2][3][9] Sudden or worsening headaches, repeated vomiting, confusion, new seizures, or sudden weakness can signal raised intracranial pressure or bleeding in the brain and require emergency care.[1][2] Any fresh blood in vomit, stool, or black tarry stools, or pale, very tired appearance can mean significant gut bleeding or severe anemia.[1][3] Eye symptoms such as sudden loss of vision, severe eye pain, or a new “white pupil” also need immediate eye assessment.[1][10] High fever, breathing difficulty, or extreme sleepiness may indicate serious infection or multi-organ problems, especially in patients with low blood counts.[3][9] Families should have a written emergency plan and know which hospital to go to.
Diet: what to eat and what to avoid
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Eat iron-rich foods like lean red meat (if culturally acceptable), poultry, fish, beans, lentils, and dark green leafy vegetables to support hemoglobin.[1][2]
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Include vitamin C sources (citrus, guava, tomatoes) with iron-rich meals to improve iron absorption and help tissue repair.[3][9]
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Choose calcium and vitamin D sources such as dairy products, fortified plant milks, eggs, and safe sunlight exposure to support bone strength.[1][3][11]
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Emphasize high-protein foods (eggs, fish, pulses, nuts, yogurt) to help growth, muscle strength, and healing after fractures or surgery.[3]
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Use soft, easy-to-chew textures (soups, stews, mashed foods) when swallowing is difficult, to maintain intake without fatigue or choking.[1][3]
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Avoid very hard or sharp foods (hard nuts, chips, bones) if there is swallowing risk or severe dental problems, to prevent choking and injuries.[3]
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Limit very spicy, fried, or acidic foods if there is gut bleeding, reflux, or ulcers, because they can worsen stomach discomfort.[3][9]
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Avoid alcohol and tobacco exposure (in adolescents and adults) because they can harm blood vessels, bone health, and overall immunity.[3]
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Watch added sugar and ultra-processed foods, which add calories but few nutrients and may worsen weight gain and metabolic issues.[3][9]
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Follow individualized diet plans from a dietitian who understands CRMCC, especially when there are food restrictions, tube feeding, or growth problems.[1][3][9]
Frequently asked questions (FAQs)
1. Is cerebroretinal microangiopathy with calcifications and cysts the same as Coats plus syndrome?
Yes. CRMCC is often called Coats plus syndrome because of the characteristic retinal vessel changes that look like Coats disease plus brain, bone, and bone-marrow problems.[1][2][3] The term highlights that this is a multisystem condition, not just an eye disease.
2. What causes this disease?
Most cases are caused by mutations in the CTC1 gene, which is part of a telomere-maintenance complex.[2][3][11] These mutations appear to damage small blood vessels and lead to calcifications, cysts, and white-matter injury in the brain, as well as bone and marrow abnormalities. Parents are usually healthy carriers.
3. Can CRMCC be cured?
At present there is no cure that can reverse the genetic problem or fully stop disease progression.[1][2][3] Treatment focuses on controlling seizures, protecting vision, treating anemia and bone fragility, and preventing complications such as infections and bleeding. Research is ongoing to better understand telomere-related disorders.
4. What is the usual age of onset?
Most patients are recognized in infancy or early childhood, often because of eye findings like leukocoria (white pupil), strabismus, or poor vision.[1][2][3] Some may first present with seizures, poor growth, or unexplained fractures. Very rare later-onset cases in adolescence or adulthood have been described.[4][8]
5. How is CRMCC diagnosed?
Doctors use a combination of brain imaging (showing calcifications, cysts, and white-matter changes), retinal examination (showing telangiectatic, leaking vessels), bone studies, blood tests, and genetic testing for CTC1 mutations.[1][2][3][11] Because it is rare, diagnosis often requires referral to a specialized centre and careful exclusion of similar conditions.
6. How does it affect life expectancy?
CRMCC is serious and life-limiting, but the exact course varies.[1][2][3] Some children die in early childhood from severe bleeding or infections, while others live into adolescence or young adulthood. Early detection, comprehensive supportive care, and rapid treatment of complications can improve both length and quality of life.
7. Will all children with this condition lose vision?
Many patients have significant visual impairment due to exudative retinopathy and retinal detachment, but severity differs.[1][3][10][12] Early ophthalmology care, laser or cryotherapy, and timely retinal surgery may preserve more useful vision in some eyes. Low-vision rehabilitation helps patients function even when sight is limited.
8. Is pregnancy possible for someone with CRMCC?
This depends on disease severity, organ involvement, and individual health.[2][3] Because pregnancy puts extra stress on the heart, blood, and gut, it may be very high-risk. Any pregnancy should be planned and managed in a high-risk obstetric and genetic counselling setting. Valproate and some other antiepileptic drugs have serious pregnancy risks and must be discussed with specialists.[5][12]
9. Can brothers and sisters also have CRMCC?
Yes. In an autosomal recessive condition, each full sibling of an affected child has a 25% chance of being affected, 50% chance of being a carrier, and 25% chance of being unaffected and not a carrier.[2][3][11] Genetic counselling and, when appropriate, carrier and prenatal testing can clarify risks for the family.
10. What can families do day-to-day to help?
Families can help by keeping regular specialist appointments, giving medicines as prescribed, watching for warning signs (new seizures, bleeding, vision changes), keeping a safe, supportive home, and encouraging gentle activity and social interaction.[1][3][9] Emotional support and connection with other rare-disease families can also make a big difference to quality of life.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: February 01, 2025.
