Coats Plus Syndrome

Coats plus syndrome is a very rare, inherited, multi-system disease where tiny blood vessels (especially in the retina of the eye and the brain) are abnormal and “leaky,” causing retinal telangiectasia with exudates (a Coats-like eye disease) plus a typical brain pattern of calcifications (calcium spots), cysts, and white-matter damage (leukoencephalopathy). Over time, these vessel problems can also affect the gut (bleeding from fragile vessels), bone marrow (low blood counts), bones (weak bones/fractures), and growth (poor growth before and after birth). Many confirmed cases are linked to biallelic (two-copy) disease-causing variants in the CTC1 gene, which is part of a telomere-maintenance system (telomeres are protective ends of chromosomes that matter for healthy cell division).

Coats plus syndrome is a very rare genetic disease that affects many parts of the body, especially the eyes, brain, bones, bone marrow, and digestive system. In the eyes it causes abnormal, leaky blood vessels in the retina (the “film” at the back of the eye), which can lead to yellow-white deposits, bleeding, and loss of vision. In the brain it can cause calcium deposits, white-matter damage, and fluid-filled cysts. In the bones it often causes low bone density and easy fractures. The bone marrow can become weak and make fewer blood cells, so the person may get anemia or low platelets and bleed easily. Many people also develop serious bleeding from the stomach or intestines and high pressure in the vein going to the liver (portal hypertension). Coats plus is usually inherited in an autosomal recessive way and is most often caused by harmful changes in a gene called CTC1, which helps protect chromosome ends (telomeres). [1]

Another names

Coats plus syndrome is also known by these names (you may see any of these in papers and reports):

• Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

• Cerebro-retinal microangiopathy with calcifications and cysts (same meaning, different spelling)

• CTC1-related Coats plus syndrome (when gene cause is confirmed)

Types

Because this disorder is rare, “types” are usually described by age of onset and which organs are most involved, not by one universal official typing system. Commonly described clinical patterns include:

• Classic childhood-onset Coats plus (eye + brain + systemic features)

• Prematurity/early-infancy presentation (early retinal findings may be noticed during infant eye screening)

• Late-onset / adult-onset Coats plus (can present later, sometimes with brain-led symptoms)

• Eye-predominant pattern (retinal disease is the first big problem)

• Neuro-predominant pattern (brain imaging changes and neurologic symptoms are more obvious early)

Causes

Important note: Coats plus is mainly a genetic disease, but people still ask for “causes” meaning “all the main biological reasons behind the disease and its major problems.” Below are 20 evidence-based causes/mechanisms that explain the condition and its key complications.

1. CTC1 gene disease-causing variants (two copies affected) are a major direct cause in many diagnosed patients. This changes how cells protect chromosome ends and can lead to multi-organ problems.

2. Autosomal-recessive inheritance is the usual inheritance pattern, meaning a child is affected when they inherit one changed copy from each parent.

3. Telomere maintenance failure is a core biological reason: when telomere systems do not work well, tissues that need regular cell renewal (blood, gut lining, vessel lining) can fail.

4. Small-vessel microangiopathy (disease of very small blood vessels) is considered a key driver, especially in brain and retina, leading to fragile vessels, leakage, and tissue injury.

5. Weak/abnormal retinal vessels (retinal telangiectasia) cause the “Coats-like” eye disease by forming widened, abnormal vessels that leak fluid and fat into the retina.

6. Breakdown of the blood-retinal barrier leads to ongoing retinal leakage (exudation), which can build up under the retina and contribute to retinal detachment.

7. Progressive brain calcifications happen because injured small vessels and surrounding brain tissue develop characteristic calcium deposits seen on imaging.

8. Brain cyst formation can occur after repeated micro-injury and tissue breakdown, leaving fluid-filled spaces that may raise pressure or affect nearby brain areas.

9. White-matter damage (leukoencephalopathy) is caused by long-term small-vessel injury and reduced support to brain tissue, affecting nerve signal pathways.

10. Fragile gut blood vessels (intestinal telangiectasia) can bleed repeatedly, causing anemia and sometimes severe bleeding episodes.

11. Chronic or acute gastrointestinal bleeding directly causes iron loss and anemia, and can become life-threatening if bleeding is heavy.

12. Bone marrow dysfunction (reduced healthy blood-cell production) can occur in some patients, worsening anemia and sometimes lowering platelets.

13. Thrombocytopenia (low platelets)—when present—can increase bleeding risk and make gut bleeding harder to control.

14. Poor prenatal growth (IUGR) can be part of the syndrome, meaning growth is slow before birth due to the underlying disease effects on development.

15. Poor postnatal growth/failure to thrive can result from chronic illness burden, recurrent bleeding, and multi-organ involvement.

16. Osteopenia (low bone density) is a common skeletal problem, making bones weak and easier to fracture.

17. Pathologic fractures happen because weak bone structure cannot handle normal stress, especially in long bones.

18. Neurologic irritation from brain lesions can lead to seizures, spasticity, and movement problems, depending on where calcifications/cysts/white-matter damage occur.

19. Eye complications secondary to retinal disease (like glaucoma or cataract) can develop when retinal damage and detachment disrupt normal eye fluid flow and eye health.

20. Overall tissue “high-turnover” vulnerability (blood, gut, vessel lining) is increased in telomere-biology disorders, explaining why multiple organs can be involved in one genetic condition.

Symptoms

1. Vision loss or reduced vision can happen when the retina is damaged by leaking vessels and swelling, or when the retina detaches. This may start in one eye or both.

2. Leukocoria (a “white pupil” look in photos/light) may appear when a large amount of retinal exudate or detachment reflects light back. Parents often notice it first.

3. Eye redness or irritation can occur due to retinal disease complications or increased eye pressure, and the child may rub the eye or avoid light.

4. Retinal detachment symptoms may include sudden worsening vision, poor tracking of objects, or abnormal eye behavior in small children who cannot describe vision changes.

5. Seizures can occur because brain tissue is irritated by calcifications, cysts, or white-matter injury. Seizures may be one of the first neurologic signs in some patients.

6. Spasticity (stiff muscles) happens when brain pathways controlling movement are damaged. The child may walk on toes, have tight legs/arms, or have difficulty with smooth movement.

7. Ataxia (poor balance and coordination) can develop if brain regions that manage balance and coordination are involved, causing shaky walking or frequent falls.

8. Developmental delay or learning problems may occur, especially if brain white matter is affected. Some children struggle with school skills or daily tasks as the disease progresses.

9. Headache or signs of high brain pressure can happen if brain cysts grow or block fluid flow, leading to vomiting, headache, or behavior change.

10. Poor growth / short stature is common, starting before birth or in early childhood, and the child may stay smaller than peers.

11. Anemia symptoms (pale skin, tiredness, fast heartbeat) can result from chronic gut bleeding or bone-marrow problems, reducing oxygen delivery to the body.

12. Easy bleeding or bruising may occur if platelet counts are low or if fragile vessels bleed more easily, especially when gut bleeding is part of the picture.

13. Recurrent gastrointestinal bleeding can show as black stools, blood in stool, or repeated unexplained anemia, because small gut vessels can be abnormal and fragile.

14. Bone pain or fractures after minor injury may happen because bones can be thin (osteopenia) and break more easily than normal.

15. Skin/hair/nail changes (like sparse or early-greying hair and nail changes) can appear in some patients, fitting with broader telomere-biology disorder features.

Diagnostic tests

Physical exam tests 

1. Full eye-and-vision check (basic clinical exam) looks for reduced vision, abnormal pupil reflexes, and visible retinal disease signs that suggest Coats-like changes. It helps decide how urgent eye imaging and treatment are.

2. Neurologic examination checks muscle tone, reflexes, strength, balance, and coordination. This helps detect spasticity or ataxia linked to white-matter brain disease.

3. Growth assessment (height, weight, head circumference, growth curve review) is important because poor growth is a common clue, especially in childhood-onset disease. It also helps measure progression and nutrition impact.

4. Bleeding and anemia screening by bedside exam checks pallor, fast pulse, fatigue signs, bruises, and abdominal tenderness. This physical review supports urgent lab testing when gut bleeding is suspected.

Manual tests (hands-on clinical tests) 

5. Visual acuity testing (age-appropriate) measures how well the patient sees in each eye. In children, simple picture charts or fixation tracking can be used, and worsening scores can signal retinal damage or detachment.

6. Pupil reflex testing (light response) checks whether both pupils react normally to light. Abnormal responses can suggest severe retinal disease or optic pathway involvement needing urgent eye imaging.

7. Intraocular pressure measurement (tonometry) is a hands-on eye test used to detect glaucoma, which can occur as a complication of severe retinal disease and detachment. High pressure can threaten vision and cause pain.

8. Focused motor tone and spasticity assessment (range of motion, passive stretch, tone scoring) helps identify spasticity severity and guides referrals for rehab and brain imaging review. It is not a “machine test,” but it is very useful clinically.

Lab and pathological tests 

9. Complete blood count (CBC) checks hemoglobin (anemia), platelets (bleeding risk), and white cells. Many patients can have anemia and sometimes low platelets, especially with gut bleeding or marrow involvement.

10. Iron studies (ferritin, iron, transferrin saturation) help show if anemia is from iron loss due to chronic bleeding. This matters because repeated intestinal bleeding is reported in Coats plus.

11. Stool occult blood test checks for hidden blood in stool when bleeding is not obvious. It is a simple way to support the suspicion of ongoing intestinal bleeding.

12. Bone marrow examination (aspirate/biopsy) when needed is used if doctors suspect marrow failure or unusual blood-cell production problems. Some reports describe marrow abnormalities alongside anemia or low platelets.

13. Genetic testing for CTC1 (and related genes when clinically indicated) is a key confirmatory test. Finding disease-causing variants supports a clear diagnosis and helps family counseling about recessive inheritance.

14. Telomere length testing (supportive test) may be considered because Coats plus is linked to telomere biology problems. Short or abnormal telomere findings can support the broader disease mechanism, especially in complex cases.

Electrodiagnostic tests 

15. EEG (electroencephalogram) measures brain electrical activity and helps confirm seizures, classify seizure type, and guide treatment. This is important because seizures are reported with the brain changes in Coats plus.

16. Visual evoked potentials (VEP) measure how well signals travel from the eye to the brain. It can help when vision loss is present and doctors need to understand pathway function beyond the retina alone.

17. Electroretinography (ERG) tests retinal function by recording electrical responses of the retina to light. It can support severity assessment in retinal vascular/exudative disease when used by specialists.

Imaging tests 

18. Brain CT scan is excellent for seeing intracranial calcifications, which are a very characteristic imaging clue in this syndrome. CT can make the “calcium pattern” clear and guide further work-up.

19. Brain MRI shows white-matter disease (leukoencephalopathy) and brain cysts in detail, and it can track progression over time. MRI is often used with CT to fully describe the classic brain triad.

20. Retinal imaging (fundus exam with fluorescein angiography and/or OCT) helps map abnormal retinal vessels and leakage. Fluorescein angiography shows telangiectasia and leak areas, while OCT can show fluid/exudate layers and retinal structure damage.

Non-pharmacological treatments (therapies and other supports)

1. Regular eye monitoring by a retina specialist
A retina specialist checks the back of the eyes at regular times using special lenses and scans. The purpose is to find new leaky vessels, fluid, or bleeding early, before permanent damage happens. The mechanism is simple: by watching the retina closely, the doctor can treat problems (with laser, injections, or surgery) at an earlier stage, which may slow vision loss and reduce the risk of eye complications. [3]

2. Vision rehabilitation and low-vision aids
If vision is reduced, vision therapists can train the person to use the remaining sight as well as possible. The purpose is to keep independence in daily life, school, and work. Tools like magnifiers, high-contrast reading material, special lighting, large-print devices, and screen readers help the brain make better use of the vision that is left. The mechanism is compensation: instead of fixing the retina, these supports help the person adapt to vision loss. [4]

3. Protective eyewear and head-injury prevention
Because the retina and brain blood vessels are fragile, even minor trauma can cause bleeding. Wearing protective glasses during play and sports, using helmets when needed, and making the home safer (no sharp edges, safe flooring) can lower the risk of eye and head injuries. The mechanism is risk reduction: fewer hits and falls means fewer chances for bleeding or new damage. [5]

4. Physiotherapy for strength and balance
Physiotherapists design exercises to build muscle strength, improve balance, and keep joints flexible. The purpose is to lower the chance of falls and fractures in people with fragile bones and possible brain involvement. The mechanism is musculoskeletal training: stronger muscles and better coordination protect bones and help the person move more safely and confidently. [6]

5. Occupational therapy for daily skills
Occupational therapists teach practical ways to manage dressing, bathing, school work, and home tasks with limited vision, weakness, or coordination problems. They may suggest adapted tools (special cutlery, writing aids, or computer setups). The purpose is to keep independence and quality of life. The mechanism is task modification: instead of forcing the body to do things in the old way, the tasks and tools are adjusted to fit the body’s abilities. [7]

6. Speech, language, and swallowing therapy
If brain involvement affects speech or swallowing, a speech-language therapist can help. The purpose is to improve clear speech, safe swallowing, and communication skills. The mechanism includes exercises to strengthen mouth and throat muscles, training in safe swallowing positions, and use of communication strategies or devices when needed. [8]

7. Individualized education and developmental support
Some children with Coats plus have slow growth, learning difficulties, or developmental delay. Working with special-education teachers, psychologists, and school support services helps adapt teaching style, classroom seating, and workload. The purpose is to give the child a fair chance to learn. The mechanism is environment adjustment: changing the learning environment rather than expecting the child to fit a rigid system. [9]

8. Psychological counseling and family support
Living with a rare, unpredictable disease is stressful for the patient and the family. Counseling offers a safe space to talk about fear, sadness, or guilt and to learn coping skills. The mechanism is emotional processing and stress management, which can reduce anxiety and depression and improve adherence to medical care. [10]

9. Nutritional counseling for bone, blood, and gut health
A dietitian can plan meals that support strong bones (enough calcium and vitamin D), healthy blood counts (iron, folate, B12, protein), and a sensitive stomach or bowel. The purpose is to prevent malnutrition and to reduce triggers of gut bleeding or liver problems. The mechanism is targeted nutrition: giving the body the building blocks it needs while avoiding foods that irritate the gut or worsen portal hypertension. [11]

10. Fall-prevention and bone-health programs
Because of osteopenia and fracture risk, structured fall-prevention programs are useful. These combine exercise, vision checks, home safety checks, and education about safe movement. The mechanism again is risk reduction: fewer falls means fewer broken bones and less pain, surgery, or immobility. [12]

11. Seizure first-aid and safety education
If the person has seizures, the family and caregivers are taught what to do during a seizure (protect the head, roll to the side, time the event, call emergency services when needed). The purpose is to reduce injury and fear. The mechanism is response training: when everyone knows what to do, seizures are less likely to cause harm or panic. [13]

12. Gastrointestinal bleeding emergency plan
Families are taught to recognize signs of gut bleeding, such as black stools, red blood in vomit or stool, or sudden weakness. They also learn when to go straight to the emergency department. The purpose is early action to prevent shock or death. The mechanism is preparedness: quick recognition and rapid hospital care can be life-saving in Coats plus. [14]

13. Vaccination planning and infection prevention
Because bone marrow may be weak, infections can be more serious. A doctor can plan vaccines (like flu and pneumonia shots) and discuss extra precautions if white blood cells or platelets are low. The mechanism is immune protection: preventing infection is safer than treating severe infection in someone with fragile blood counts. [15]

14. Gentle physical activity and energy-management
Light regular activity (such as walking, stretching, or swimming when safe) helps maintain muscle, mood, and circulation without over-tiring the person. The purpose is to avoid both extreme fatigue and extreme inactivity. The mechanism is pacing: matching activity to energy levels to avoid crashes and deconditioning. [16]

15. Dental and oral-health care
Good dental care matters because low platelets and fragile vessels can make gum bleeding worse, and infections in the mouth can be serious in people with low white cells. Regular gentle cleaning, fluoride, and professional dental checks help. The mechanism is infection control and bleeding prevention through clean, healthy gums and teeth. [17]

16. Genetic counseling for the family
A genetics specialist can explain how Coats plus is inherited, what the CTC1 mutation means, and the chance of future children being affected. They can also discuss options like carrier testing for relatives. The mechanism is informed decision-making: families can plan pregnancies and screening based on clear information. [18]

17. Multidisciplinary rare-disease clinic care
Because Coats plus affects many organs, care in a center that brings together neurology, ophthalmology, gastroenterology, hematology, and genetics is helpful. The purpose is coordinated planning instead of separate, conflicting advice. The mechanism is team care: doctors share information and agree on priorities for the patient. [19]

18. Social-work and practical support
Social workers help with disability paperwork, financial support, transport to hospital, and connection to rare-disease charities or support groups. The mechanism is reducing practical stress, so families can focus more energy on health and daily life. [20]

19. Palliative-care and symptom-relief services
Palliative care does not mean “giving up.” It means expert help with pain, nausea, breathlessness, and emotional strain at any stage of the illness. The purpose is to improve comfort and quality of life alongside active treatment. The mechanism is symptom-focused care, using both non-drug strategies and careful medications. [21]

20. Home and school adaptations for safety and access
Simple changes like grab bars in the bathroom, railings, good lighting, non-slip mats, and accessible classroom seating can make a big difference. The purpose is to keep the person safe and included. The mechanism is environment design: changing the surroundings so that limitations in vision, balance, or strength cause fewer problems. [22]

---

Drug treatments

All dosing below is general. Real doses depend on age, weight, organ function, and other medicines. Only a specialist should decide exact dosing.

1. Intravitreal ranibizumab (Lucentis or biosimilars)
Ranibizumab is injected into the eye to block VEGF, a protein that drives abnormal retinal blood vessel growth and leakage. It is approved for several retinal diseases and sometimes used off-label in Coats-like conditions to reduce exudation and swelling. Typical regimens involve monthly injections at first, then less often as the retina stabilizes. Main side effects include eye pain, temporary increased eye pressure, and a small risk of infection inside the eye (endophthalmitis). [23]

2. Anti-VEGF via ocular implant (SUSVIMO – ranibizumab)
SUSVIMO is an implant that slowly releases ranibizumab into the eye over months. It is approved for some chronic retinal diseases and may be considered in selected cases needing long-term VEGF suppression. The mechanism is continuous drug delivery close to the retina. Surgery is needed to place the implant, and risks include conjunctival problems, infection, and implant dislocation. [24]

3. Levetiracetam (Keppra) for seizures
Levetiracetam is an antiepileptic drug used widely as add-on or sometimes main therapy for many seizure types. In Coats plus, it can help control seizures caused by brain calcifications or cysts. It works by modulating synaptic neurotransmitter release. Usual dosing is started low and slowly increased. Side effects can include sleepiness, dizziness, and mood changes, so behavior should be watched closely. [25]

4. Other antiepileptic drugs (e.g., valproate, lamotrigine, topiramate)
Depending on seizure type and EEG findings, neurologists may choose other antiseizure drugs. These act through different mechanisms such as blocking sodium channels, enhancing GABA, or reducing glutamate activity. They are selected carefully because some can affect the liver or blood counts, which may already be fragile in Coats plus. Monitoring of levels and blood tests is important. [26]

5. Proton-pump inhibitors (pantoprazole) for stomach protection
Pantoprazole reduces acid made by the stomach. It is used to treat and prevent ulcers and bleeding, and can be given by mouth or by intravenous infusion during acute bleeding. In Coats plus, PPIs may help protect the upper gut when there is portal hypertension or when other medicines irritate the stomach. Side effects may include headache, diarrhea, and, with long-term use, low magnesium or bone effects. [27]

6. Octreotide (Sandostatin) for severe GI bleeding
Octreotide is a somatostatin-like drug given by injection that reduces blood flow and hormone release in the gut. Case reports in Coats plus describe long-term octreotide use helping control life-threatening gastrointestinal bleeding linked to vascular malformations and portal hypertension. It is usually started in hospital with careful monitoring. Side effects can include gallstones, abdominal pain, and changes in blood sugar. [28]

7. Non-selective beta-blockers (propranolol) for portal hypertension
In some patients with portal hypertension and varices, non-selective beta-blockers such as propranolol are used to reduce portal blood pressure and lower the risk of bleeding. They work by slowing the heart and reducing blood flow into the portal system. Doses are increased slowly and heart rate and blood pressure are monitored. Side effects may include tiredness, cold hands, and wheezing in people with asthma. [29]

8. Iron replacement (e.g., ferric maltol or oral iron salts)
Repeated gut bleeding can cause iron-deficiency anemia. Oral iron (such as ferric maltol or ferrous sulfate) replaces iron stores so the bone marrow can make new red cells. Doses are usually given one or two times daily, often away from food to improve absorption. Side effects commonly include dark stools, constipation, or stomach upset. Intravenous iron may be used if the gut cannot absorb iron well. [30]

9. Iron-chelation therapy (deferasirox) after many transfusions
Some patients need many blood transfusions for anemia, which can overload the body with iron. Deferasirox is an oral iron chelator that binds extra iron so it can be removed from the body. It is used when blood tests show high iron stores (for example, high ferritin). Dosing is based on body weight. Side effects can include kidney and liver problems, so blood tests and urine tests are checked regularly. [31]

10. Vitamin D and calcium (as medicines when levels are low)
If tests show low vitamin D or calcium, prescription-strength supplements may be used to support bones. Vitamin D helps the gut absorb calcium and supports bone mineralization; calcium provides the raw material for bone. Doses depend on blood levels and age. Too much can cause high calcium and kidney problems, so levels are monitored. [32]

11. Bisphosphonates (e.g., alendronate) for severe osteopenia
In severe low bone density with fractures, doctors may consider bisphosphonates. These drugs attach to bone and reduce the activity of cells that break down bone, which can help strengthen bones over time. They are usually given in cycles with periods off treatment. Side effects can involve bone pain, flu-like symptoms, or rare jaw problems, so dental checks and monitoring are important. [33]

12. Antiemetic drugs for nausea and vomiting
Nausea from gut problems, medicines, or increased pressure in the brain may be treated with anti-nausea drugs. They work through different brain and gut receptors to reduce the feeling of sickness. The purpose is to maintain nutrition and comfort. Side effects depend on the drug but may include drowsiness or constipation. [34]

13. Analgesics (mainly paracetamol/acetaminophen)
Pain from fractures, headaches, or procedures is often treated with paracetamol as a first choice because it does not thin the blood like many NSAIDs. It works centrally to reduce pain signals and fever. Doses must be limited to avoid liver damage, especially if other liver stresses are present. Stronger pain relievers may be used for short periods under strict medical supervision. [35]

14. Stool softeners and laxatives
Chronic anemia, low activity, and some medicines can cause constipation, which may worsen gut symptoms and bleeding risk from straining. Gentle stool softeners and osmotic laxatives help keep stools soft and easier to pass. The mechanism is drawing water into stool or lubricating it. Drinking enough fluids and eating fiber, as allowed, improves their effect. [36]

15. Antibiotics for infections
Because bone marrow suppression can lower white blood cells, infections may become serious quickly. Doctors may prescribe oral or intravenous antibiotics if there is fever, chest infection, urinary infection, or gut infection. Antibiotics work by killing or stopping growth of bacteria. Choice and duration depend on the infection site and local resistance patterns. [37]

16. Platelet and red-cell transfusions
Although not “drugs” in the usual sense, blood products are key treatments. Packed red cells raise hemoglobin so oxygen transport improves; platelet transfusions reduce bleeding risk when counts are very low or during procedures. The mechanism is replacement of missing blood components. Risks include allergic reactions, infections, and iron overload, so transfusions are given only when clearly needed. [38]

17. Diuretics for portal hypertension-related swelling
If liver involvement and portal hypertension cause fluid build-up in the belly (ascites) or legs, diuretics may be used to help the kidneys remove extra salt and water. This reduces swelling and breathlessness. They must be used carefully to avoid kidney injury or electrolyte imbalance. [39]

18. Proton-pump inhibitor plus octreotide “combo” during acute bleed
In a major upper-gut bleed, doctors often use a PPI infusion together with octreotide, as seen in case reports of Coats plus with severe GI bleeding. The PPI reduces acid and stabilizes clots, while octreotide reduces portal blood flow and hormone-driven vasodilation. This combined mechanism can help stop bleeding before or alongside endoscopic treatment. [40]

19. Thrombopoietin receptor agonists (for selected platelet problems)
In certain chronic low-platelet conditions, thrombopoietin receptor agonists can stimulate the bone marrow to make more platelets. Their use in Coats plus would be highly specialized and off-label, but conceptually they support platelet production. Close monitoring is needed because they can increase clot risk or affect liver tests. [41]

20. Experimental or clinical-trial medicines
Because Coats plus is a telomere-related disorder, some centers may explore medicines tested in other telomere diseases (for example, certain androgens or novel agents) within clinical trials. The purpose is to see whether telomere maintenance and bone-marrow function can be improved. These are experimental and should only be used in research settings with ethics approval and strict safety checks. [42]

---

Dietary molecular supplements (always under medical supervision)

1. Vitamin D3
Supports calcium absorption and bone mineralization, which is very important in osteopenia. Typical doses are adjusted based on blood levels; too much can be dangerous. It works by binding to vitamin D receptors in gut and bone, increasing calcium uptake and incorporation into bone. [43]

2. Calcium
Provides the raw mineral needed for bone strength and for normal heart and muscle function. Supplemental calcium is used when dietary intake and blood levels are low. It works by raising blood calcium, which the body can store in bones. Excess intake can cause kidney stones or high calcium, so dosing must be careful. [44]

3. Iron supplements
Oral iron (tablets or liquids) provides iron atoms for hemoglobin, helping treat iron-deficiency anemia from chronic blood loss. It works by being absorbed in the small intestine and then used in bone marrow to build red blood cells. Side effects include dark stools and constipation, and overdose is dangerous, especially in children. [45]

4. Folate (vitamin B9)
Folate is needed for DNA synthesis in dividing cells, especially in bone marrow. Supplementation is useful if blood tests show folate deficiency. It works by supporting normal red-cell formation and lowering certain harmful amino-acid levels (homocysteine). Too much folate can hide vitamin B12 deficiency, so both should be checked. [46]

5. Vitamin B12
Also crucial for normal red-cell production and nerve function. Low B12 can worsen anemia and nerve problems. It works as a cofactor in reactions that build DNA and maintain myelin (the covering around nerves). It can be given by mouth or injection depending on the cause of deficiency. [47]

6. Omega-3 fatty acids
Found in fish oil and some plant oils, omega-3s have anti-inflammatory and possible vascular-protective effects. They may support heart and vessel health and help with general inflammation. Mechanistically they are incorporated into cell membranes and alter inflammatory mediator production. They can thin the blood slightly, so they must be used cautiously in people with bleeding risk. [48]

7. Antioxidant vitamins (C and E) in balanced doses
These vitamins help neutralize free radicals that can damage cells. In theory, they may support overall tissue health in chronic disease. The mechanism involves donating electrons to unstable molecules, making them less harmful. Very high doses can be harmful, so supplements should stay within recommended limits. [49]

8. Protein supplements
If the person struggles to eat enough due to fatigue or gut issues, protein shakes or powders can help meet protein needs. Protein provides amino acids to build muscles, blood proteins, and repair tissues. Too much protein may stress the kidneys, so amounts should be tailored, especially if there is liver or kidney involvement. [50]

9. Probiotics (in selected cases)
Probiotics are helpful bacteria given by mouth to support gut microbiota balance. In some chronic gut conditions they may reduce diarrhea or bloating. They act by competing with harmful bacteria and influencing immune responses in the gut lining. Use in immunocompromised patients must be cautious because rare bloodstream infections have been reported. [51]

10. Balanced multivitamin/mineral supplement
A standard-dose multivitamin can help cover small dietary gaps when appetite is poor. It works by supplying small amounts of many vitamins and minerals needed for enzyme functions and tissue repair. Mega-dose products are not recommended because of toxicity risk. The exact choice should be guided by a doctor or dietitian. [52]

---

Immunity-supporting, regenerative, or stem-cell–related therapies

1. Hematopoietic stem-cell transplantation (HSCT)
In theory, HSCT replaces diseased bone marrow with healthy donor stem cells. This can correct some forms of bone-marrow failure, but in telomere-related disorders like Coats plus it carries high risks, including serious infections, organ damage, and graft-versus-host disease. Conditioning regimens must be specially adapted. HSCT is considered only in very selected cases at expert centers. [53]

2. Erythropoiesis-stimulating agents (ESAs)
ESAs such as epoetin alfa stimulate bone-marrow stem cells to make more red blood cells. They bind to erythropoietin receptors on progenitor cells, triggering maturation into red cells. They may reduce transfusion needs in certain anemias, but can increase clot risk and require careful dosing and iron sufficiency. Their role in Coats plus, if any, would be highly individualized. [54]

3. Granulocyte colony-stimulating factor (G-CSF)
G-CSF (for example filgrastim) stimulates bone marrow to produce more neutrophils. It is used in some neutropenias and chemotherapy-induced low white counts. It binds to receptors on myeloid progenitors and speeds their maturation. In a Coats plus patient with severe recurrent infections and low neutrophils, a specialist might consider it, but there is a theoretical risk of worsening marrow stress. [55]

4. Thrombopoietin receptor agonists
These agents stimulate platelet production by activating thrombopoietin receptors on megakaryocyte precursors. They are licensed for some chronic low-platelet conditions. In Coats plus, they could in theory support platelets when bleeding risk is high, but experience is very limited. They also can increase clot risk and must be used only by experts. [56]

5. Intravenous immunoglobulin (IVIG)
IVIG is pooled antibodies from many donors. It can modulate the immune system and is used for some autoimmune and immune-deficiency conditions. It works by many mechanisms, including blocking harmful antibodies and changing immune-cell signaling. In a Coats plus patient with specific immune problems or certain autoimmune complications, IVIG may be considered. It is given by infusion and can cause headache, kidney issues, or allergic reactions. [57]

6. Future gene- or cell-based therapies (research only)
Because Coats plus is linked to genes controlling telomeres, future treatments may try to correct or bypass these gene faults using gene therapy or engineered stem cells. At present, these approaches are experimental and available only in research. They aim to restore healthier telomere biology in stem cells so that tissues like bone marrow and brain vessels age more slowly. [58]

---

Surgeries and invasive procedures

1. Retinal laser photocoagulation
An eye surgeon uses a laser to seal off leaky, abnormal retinal vessels. This can reduce exudation and help preserve remaining vision. It works by creating tiny burns that close damaged vessels and reduce fluid leakage. Multiple sessions may be needed, and there is a risk of scarring and some loss of peripheral vision. [59]

2. Vitrectomy surgery
If there is dense bleeding or traction inside the eye, a vitrectomy may be done to remove the gel (vitreous) and clear blood. The surgeon places small instruments through the eye wall, removes the cloudy gel, treats the retina directly, and replaces the gel with clear fluid or gas. This can improve vision or prevent further damage but carries risks like retinal detachment or infection. [60]

3. Neurosurgical drainage of brain cysts or shunt placement
Large brain cysts or pressure build-up in the brain may be treated by placing a drain or a shunt to divert fluid, often from the brain to the abdomen. The goal is to relieve pressure, reduce headaches, vomiting, and risk of further brain damage. The mechanism is mechanical: giving fluid a safe alternative pathway. As with any brain surgery, there are risks of infection, bleeding, and shunt blockage. [61]

4. Endoscopic or radiologic treatment of GI bleeding
During severe gut bleeding, doctors may use an endoscope to clip, band, or inject bleeding vessels, or interventional radiology to block abnormal vessels from the inside. These procedures directly control bleeding sources. They are often combined with medicines like PPIs and octreotide and are life-saving but require anesthesia and expert teams. [62]

5. Procedures for portal hypertension (e.g., shunts, TIPS)
In selected patients with severe portal hypertension and variceal bleeding that cannot be controlled, surgeons or interventional radiologists may create shunts (such as TIPS – transjugular intrahepatic portosystemic shunt) to lower portal pressure. This can reduce bleeding risk but may worsen other problems like confusion from liver toxins. Careful weighing of risks and benefits is essential. [63]

Ways to help prevent complications

1. Attend all regular check-ups with eye, brain, liver, and blood specialists so problems are found early. [64]

2. Avoid smoking and second-hand smoke, which can harm blood vessels and bones. [65]

3. Use protective gear (glasses, helmets) to reduce eye and head injuries. [66]

4. Follow vaccination plans to lower the chance of severe infections. [67]

5. Maintain a healthy weight and gentle activity, which supports bones and circulation. [68]

6. Avoid NSAIDs and other medicines that increase bleeding, unless a doctor says they are safe. [69]

7. Limit alcohol, which can worsen liver and bone problems. [70]

8. Protect the skin from injury and sunburn, as the skin may be fragile and pigmented. [71]

9. Treat constipation early so straining does not trigger gut bleeding. [72]

10. Have a clear emergency plan for seizures or gut bleeding, agreed with doctors in advance. [73]

---

When to see a doctor or go to emergency care

Anyone with Coats plus syndrome should have regular planned visits with their care team. However, urgent medical attention is needed if there is sudden vision loss, new or severe headache, repeated vomiting, seizure lasting more than a few minutes, repeated seizures without full recovery between them, black or red stools, vomit that looks like coffee grounds or fresh blood, chest pain, severe shortness of breath, very pale skin with fast heartbeat, or a high fever that does not settle. These signs can mean serious bleeding, brain pressure, infection, or other emergencies that need rapid treatment in hospital. [74]

---

What to eat and what to avoid ideas

Helpful to eat (as allowed by your doctors):

1. Calcium-rich foods like dairy, fortified plant milks, and some leafy greens, to support bones. [75]

2. Vitamin-D sources such as fortified foods and safe sunlight exposure (following skin and eye advice). [76]

3. Iron-rich foods like lean meats, beans, lentils, and fortified cereals if anemia is present. [77]

4. High-protein foods (eggs, fish, beans, yogurt) to help tissue repair and maintain muscle. [78]

5. Plenty of fruits and vegetables, chosen to match the person’s gut tolerance, to provide vitamins and fiber. [79]

Often wise to limit or avoid (doctor may individualize this):

6. Very salty foods (chips, instant noodles, processed meats) that can worsen fluid retention and portal hypertension. [80]

7. Alcohol, which stresses the liver and can weaken bone and blood counts. [81]

8. Caffeine and energy drinks in large amounts, which may affect heart rhythm or sleep. [82]

9. Very spicy, fried, or acidic foods if they trigger heartburn or gut pain. [83]

10. Unnecessary herbal products or supplements that have not been checked by the medical team, as they may affect the liver, blood, or other treatments. [84]

---

Frequently asked questions (FAQs)

1. Is Coats plus syndrome curable?
Right now there is no cure that can remove the underlying gene problem. Treatment focuses on managing symptoms, slowing damage, and improving quality of life by protecting the eyes, brain, bones, blood, and gut as much as possible. [85]

2. How is Coats plus syndrome diagnosed?
Doctors use a mix of eye exams, brain imaging (CT or MRI), bone scans, blood tests, and genetic testing for CTC1 and related genes. The pattern of retinal disease, brain calcifications and cysts, bone changes, and bone-marrow problems together with gene results usually confirms the diagnosis. [86]

3. Is Coats plus syndrome inherited?
Yes. It is usually inherited in an autosomal recessive pattern. This means a child gets one faulty copy of the gene from each parent, who are usually healthy carriers. Genetic counseling can explain the exact risk for each family. [87]

4. Can anything be done before birth?
If the family’s exact gene variants are known, prenatal or preimplantation genetic testing may be possible in future pregnancies. This is a complex personal and ethical decision and must be discussed with genetics professionals. [88]

5. Why does Coats plus affect so many organs?
The CTC1 gene and related telomere genes are active in many cell types. When telomere maintenance is abnormal, small blood vessels, bone, bone marrow, and other tissues can age or fail too early, causing problems in the eye, brain, bones, gut, and skin. [89]

6. Will everyone with Coats plus have the same symptoms?
No. Coats plus is highly variable. Some people have mainly eye and brain problems, while others have very severe gut bleeding or bone-marrow failure. Even siblings with the same mutation can be affected differently. [90]

7. What eye problems are most common?
Common eye findings include retinal telangiectasia (twisted, leaky vessels), exudates, hemorrhages, and sometimes retinal detachment. These can lead to blurred vision, loss of side vision, or white pupil reflex (leukocoria). Regular retinal exams are essential. [91]

8. Why is gastrointestinal bleeding such a concern?
Fragile blood vessels in the gut and portal hypertension can lead to repeated bleeding episodes. These can cause severe anemia and, in extreme cases, life-threatening shock. Case reports show that managing this bleeding is one of the hardest parts of care. [92]

9. Can children with Coats plus go to school?
Many can, especially with support. Vision aids, special-education services, and flexible schedules can help. Frequent medical visits and fatigue may require adjustments, but education and social contact are very important for quality of life. [93]

10. What is the long-term outlook (prognosis)?
Because Coats plus is rare, exact survival numbers are not clear. Some children develop severe complications early, while others live into adulthood with varying levels of disability. Early diagnosis, careful monitoring, and aggressive treatment of bleeding, infections, and neurologic problems may improve outcomes. [94]

11. Can someone with Coats plus live independently as an adult?
It depends on how strongly the eyes, brain, and other organs are affected. Some adults with milder forms can live semi-independently with support, while others need significant help with daily activities. Planning for future care and support is important as the person grows older. [95]

12. Are there clinical trials for Coats plus?
A small number of research studies are exploring telomere-related diseases including Coats plus or related conditions. ClinicalTrials.gov and rare-disease networks list current studies. Participation is voluntary and only offered at certain centers. [96]

13. Does Coats plus always need surgery?
No. Some people are managed mainly with medicines and monitoring. Surgery is considered only when clear problems such as retinal detachment, large brain cysts, or uncontrolled bleeding require a procedure. The risks and benefits are discussed in detail with the family. [97]

14. What can families do day-to-day to help?
Families can keep appointments, give medicines as prescribed, encourage gentle activity, offer emotional support, and watch for warning signs such as new vision changes, severe headaches, or bleeding. Connecting with rare-disease groups can also reduce isolation. [98]

15. Where can we find more reliable information?
Trusted sources include rare-disease organizations, national genetics information sites, and peer-reviewed medical articles. Examples are GARD/NIH, Orphanet, Global Genes, and published case reports and reviews on Coats plus syndrome. Your own specialists can suggest the best reading for your situation. [99]

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.