Ayazi syndrome is a very rare genetic disease. It happens when a small piece is missing (deleted) from a special part of the X chromosome called Xq21. This missing piece includes at least two important genes: CHM, which is needed for normal retina (back of the eye) function, and POU3F4, which is needed for normal inner ear and hearing development. Because of this deletion, people with Ayazi syndrome usually have progressive eye disease (choroideremia), hearing loss from birth or early life, obesity, and often learning or intellectual problems.
Ayazi syndrome (also called choroideremia–deafness–obesity syndrome or Xq21 microdeletion syndrome) is a very rare genetic condition. It is linked to a small missing piece on the X-chromosome (Xq21) that removes genes such as CHM and POU3F4. This causes a retinal dystrophy called choroideremia, congenital hearing loss, obesity, and often intellectual disability in affected boys and men. Female carriers usually have only mild eye changes. There is no cure yet. Treatment focuses on protecting vision as long as possible, improving hearing, helping with learning and behaviour, managing weight and metabolic risk, and giving strong family and social support.
Because the condition is extremely rare, there are no medicines or surgeries approved specifically for “Ayazi syndrome”. Doctors use treatments that are already proven for its separate problems (choroideremia, deafness, obesity, learning difficulty, etc.). Most evidence comes from small case reports and from research in related diseases such as other inherited retinal dystrophies, obesity, and hearing disorders.
The condition is X-linked recessive. This means the faulty part is on the X chromosome, and it mainly affects males (who have only one X chromosome). Females who carry the deletion on one of their two X chromosomes often have mild eye changes but usually less severe problems.
Ayazi syndrome is also called an Xq21 microdeletion syndrome or choroideremia-deafness-obesity syndrome, because a tiny part of Xq21 is missing and causes a pattern of eye disease, deafness, and weight gain. The condition is very rare, with estimated frequency less than 1 in a million people worldwide.
Other names
Doctors and medical books may use several names for the same condition. All the names below usually mean the same or almost the same syndrome:
Ayazi syndrome – the original name after the doctor who first described the condition.
Choroideremia-deafness-obesity syndrome – stresses the three main problems: eye disease, deafness, and obesity.
Choroideremia with deafness and obesity – another way to describe the same combination of signs.
Xq21 microdeletion syndrome – focuses on the missing piece at the Xq21 region of the X chromosome.
Monosomy Xq21 or del(X)(q21) – cytogenetic names used by genetic labs to describe the chromosome defect.
All these names point to the same core problem: a small deletion on Xq21 that removes genes needed for normal eye and ear function, leading to a shared pattern of symptoms.
Types (clinical patterns)
There are no strict “official” types of Ayazi syndrome like type 1 or type 2. However, doctors may think about different clinical patterns based on who is affected and how large the deletion is:
Classic male form – a boy or man with choroideremia, early-onset mixed (sensorineural and conductive) deafness, obesity, and moderate intellectual disability. This is the pattern most often described in case reports.
Carrier female form – a woman who carries the Xq21 deletion on one X chromosome. She may have mild retinal changes that look like carrier choroideremia but usually has normal or near-normal hearing and intelligence.
Larger Xq21 deletion form – in some patients the missing segment is bigger and may include extra genes. These individuals can have more severe learning problems or additional features beyond eye disease, deafness, and obesity.
Milder or atypical form – some people have partial features, for example, mainly choroideremia with less obvious obesity or hearing loss, or they are found only through family genetic testing.
Thinking in this “type” or pattern way helps doctors plan follow-up and support for eye, ear, learning, and weight problems in each person.
Causes
For Ayazi syndrome, the main cause is genetic. All other “causes” below are really mechanisms or risk situations linked to how the Xq21 deletion appears and is passed on. Together they explain how and why the syndrome can occur in a family.
Xq21 microdeletion itself
The direct cause is a missing piece of DNA on the X chromosome at band Xq21. This deletion removes one or more genes that are needed for normal eye, ear, and brain development. Without these genes, the retina degenerates, hearing does not form normally, and weight and learning control are disturbed.Loss of the CHM gene (choroideremia gene)
The CHM gene, located at Xq21, is usually deleted in Ayazi syndrome. This gene makes a protein needed for the health of the retinal pigment epithelium. When CHM is missing, the retina slowly breaks down, leading to choroideremia, night blindness, and loss of visual field.Loss of the POU3F4 gene (inner ear development gene)
The POU3F4 gene at Xq21 helps guide early formation of the inner ear and hearing system. Deletion of POU3F4 causes mixed hearing loss (both conductive and sensorineural) that may be present from birth or progress over time.Contiguous gene syndrome effect
Ayazi syndrome is called a “contiguous gene syndrome” because several neighboring genes are lost at the same time. The combined effect of losing many genes at once produces the mix of eye, ear, obesity, and learning problems.X-linked recessive inheritance from a carrier mother
In many families, the deletion is passed from a mother who carries the abnormal X chromosome to her son. The mother often has mild findings only, but each son has a 50% chance to inherit the deleted X and develop the full syndrome.De novo (new) Xq21 deletion in the child
In some cases the deletion is not found in either parent. It appears as a new (de novo) event during the formation of the egg or sperm or early in the embryo, leading to Ayazi syndrome in the child even with a negative family history.Errors during meiosis (cell division for eggs and sperm)
The Xq21 deletion can result from a mis-alignment or unequal crossing-over when the X chromosomes swap pieces during egg or sperm formation. This mistake leaves one gamete with a missing section and can cause the syndrome in the child conceived with that gamete.Chromosome breakage and faulty DNA repair
Sometimes a break in the X chromosome at or near Xq21 is not correctly repaired. If the broken piece is lost instead of re-joined, the child is left with a shortened chromosome missing the Ayazi region.Unbalanced X-autosome translocation involving Xq21
A parent may carry a balanced translocation between the X chromosome and another chromosome. If a child inherits an unbalanced form that deletes Xq21, Ayazi-like features can appear. This mechanism is rare but has been described in other X-linked microdeletion conditions.Germline mosaicism in a parent
A parent may have the deletion only in some of their egg or sperm cells (germline mosaicism) but not in blood cells tested by routine genetics. This can cause more than one affected son in a family even when tests on the parents appear normal.Male sex (single X chromosome)
Males have one X and one Y chromosome. If their only X carries the Xq21 deletion, they have no second healthy X to compensate, so the syndrome shows fully. This “hemizygous” state is a key biological reason why Ayazi syndrome mainly affects males.Skewed X-inactivation in carrier females
In females, one X in each cell is switched off (X-inactivation). If the active X in many cells happens to be the one with the deletion (skewed inactivation), a female carrier may show some clinical features, such as retinal changes or mild hearing loss.Family history of Xq21 microdeletion or choroideremia-deafness-obesity pattern
A history of male relatives with combined eye disease, deafness, and obesity suggests an inherited Xq21 deletion in the family. This family pattern is a strong risk factor for having a child with Ayazi syndrome.Parental carriage of a small Xq21 microdeletion
A parent may carry a small or complex rearrangement at Xq21 that is not obvious in routine exams but is found on detailed molecular testing. This small deletion can be passed on and expand or manifest as the full Ayazi syndrome in the child.Random genetic error in early embryo development
In some individuals, the deletion appears after fertilization, during early cell divisions of the embryo. This random event can create mosaicism, where some cells have the deletion and some do not, leading to variable severity of the syndrome.Chromosome instability regions at Xq21
Certain stretches of DNA are more fragile and prone to break or mis-pair. The Xq21 region is recognized as a site where recurrent microdeletions can occur, which helps explain why this specific location is involved in several related X-linked conditions.Absence of known environmental cause
Current evidence does not show a clear environmental trigger (such as infection or toxin) causing Ayazi syndrome. Instead, the cause is intrinsic genetic damage. This is important because it means parents did nothing to “cause” the disease by lifestyle or exposure.Very rare but possible recurrence in siblings
Because of X-linked inheritance or germline mosaicism, more than one child in a family can be affected. This recurrence pattern is not a separate cause but shows how the same genetic defect can lead to multiple cases in one family group.Shared mechanism with other Xq21 deletion disorders
Ayazi syndrome shares its genetic region with other Xq21 deletion disorders. The same basic mechanism—losing a chunk of DNA at Xq21—can produce slightly different clinical pictures depending on how big the missing piece is.Unknown additional modifying genes
Even with the same Xq21 deletion, some people are more severely affected than others. This suggests that other genes elsewhere in the genome may modify how strongly the deletion expresses itself. These “modifier genes” are not yet well understood but are part of the biological cause of variable severity.
Symptoms
Not everyone has every symptom, but the features below are commonly reported in Ayazi syndrome or closely related Xq21 microdeletion syndromes.
Choroideremia (progressive retinal degeneration)
Choroideremia is a disease of the retina and the underlying choroid at the back of the eye. In Ayazi syndrome, the retina slowly thins and scars because the CHM gene is missing. Over time, this damage leads to patchy areas of pigment loss and eventually to severe vision loss.Night blindness (nyctalopia)
Many affected males first notice trouble seeing in dim light or at night. This happens because the rod cells in the retina, which help with night vision, are very sensitive to the early effects of choroideremia.Constriction of visual field (tunnel vision)
As retinal degeneration spreads, the outer parts of the visual field are lost. People feel like they are looking through a narrow tube or tunnel. This makes moving in unfamiliar or dark places difficult and increases the risk of falls or accidents.Progressive central blindness
In later stages, the central retina (macula) becomes affected. Reading, recognizing faces, and detailed tasks become very hard or impossible. Eventually some patients become legally blind, even if the eyes look normal from the outside.Obesity or excessive weight gain
Many individuals with Ayazi syndrome develop obesity, often starting in childhood or teenage years. The exact reason is not fully known, but may involve brain centers that control appetite and metabolism, reduced physical activity due to vision and hearing problems, and possible hormonal factors.Sensorineural hearing loss
Loss of hearing due to inner ear or auditory nerve damage (sensorineural hearing loss) is common. It may be present from birth or may get worse with age. This is linked to deletion of POU3F4 and related inner ear malformations.Conductive hearing loss and mixed deafness
Some patients also have problems with the outer or middle ear, such as abnormal middle-ear bones (ossicles) or stapes fixation, leading to conductive hearing loss. Many have both sensorineural and conductive components, so the deafness is “mixed”.Deafness present at birth (congenital deafness)
In the classic description, affected males can be deaf from birth or early infancy. This early hearing loss can delay speech development and social interaction if hearing aids or other support are not provided in time.Intellectual disability or learning difficulties
Moderate intellectual disability is reported in many cases. Children may walk, talk, or learn at a slower pace than peers and may need special education support. In milder cases, there may be specific learning problems rather than global disability.Developmental delay in early childhood
Before school age, children may sit, crawl, or walk later than expected. Speech may be delayed because of both hearing loss and cognitive difficulties. Early developmental delay is often one of the first reasons parents seek medical advice.Impaired vision in childhood
Even before severe degeneration, children may complain of blurred vision, difficulty reading small print, or problems seeing in classrooms. Teachers may notice that the child has trouble copying from the board or often bumps into objects.Strabismus (eye misalignment) in some patients
Some individuals may show crossed eyes or misaligned eyes (strabismus). This may be due to poor vision in one eye or abnormal eye muscle control. Strabismus can further reduce depth perception and may need separate treatment.Behavior and social difficulties
Because of the combination of vision loss, hearing problems, and learning issues, some patients struggle with social communication, independence, and behavior control. This can appear as shyness, withdrawal, or frustration rather than a separate psychiatric disease.Balance and spatial orientation problems
The inner ear helps with balance. When inner ear structure is abnormal, as in some POU3F4-related defects, patients may feel off-balance or clumsy, especially in the dark when visual cues are reduced.Reduced quality of life from combined sensory loss
Having both serious hearing loss and progressive blindness greatly affects daily life. People may struggle with communication, moving safely, school, work, and hobbies. Emotional effects such as sadness or anxiety about the future are common and understandable.
Diagnostic tests
Because Ayazi syndrome affects eyes, ears, weight, and learning, diagnosis needs a team approach. Below are 20 important tests and assessments, grouped into the categories you asked for.
Physical examination (general exam)
Full general and growth examination
The doctor checks height, weight, body mass index (BMI), head size, and body shape. Obesity, short or normal stature, and other body features are noted. Skin, muscles, and joints are examined too. This helps show the overall pattern of the syndrome and rule out other causes of obesity or developmental delay.Neurological examination
A neurologist or pediatrician checks muscle tone, reflexes, coordination, gait (how the person walks), and balance. This exam looks for signs of brain or nerve involvement that might explain developmental delay, weakness, or coordination problems.Eye examination at the slit lamp and with dilated pupils
An ophthalmologist examines the front and back of the eye. When the pupils are dilated with eye drops, the doctor can see the retina and choroid and may notice the typical patches and thinning seen in choroideremia. This is often one of the key clues to Ayazi syndrome.Ear, nose, and throat (ENT) examination
An ENT doctor checks the outer ear canal, eardrum, nose, and throat. They look for ear infections, eardrum problems, or structural changes that might contribute to conductive hearing loss on top of the inner ear problem.
Manual / bedside tests
Basic bedside vision screening
Simple reading charts, finger counting, and confrontation visual field tests are done in the clinic. Even before advanced machines are used, these easy tests can show reduced central vision, tunnel vision, or unequal vision between the two eyes.Night vision questions and dark-room walk test
The doctor may ask the patient to move around a dim or dark room and describe what they see. Difficulty navigating in low light is a practical way to confirm night blindness related to retinal degeneration.Tuning fork tests (Rinne and Weber)
These simple bedside tests use a vibrating tuning fork to compare air and bone conduction of sound. They help distinguish conductive from sensorineural hearing loss and may show the mixed pattern typical of Ayazi syndrome.Basic balance tests (Romberg and gait assessment)
Standing with feet together and eyes closed, or walking in a straight line, can reveal subtle balance problems. These tests are quick and give important clues about inner ear and brain function.
Laboratory and pathological tests
Chromosomal microarray analysis (CMA)
CMA is a molecular test that looks for tiny deletions and duplications across all chromosomes. In Ayazi syndrome, it can detect the microdeletion at Xq21 and measure its size, confirming the diagnosis at the DNA level.Targeted Xq21 deletion testing / gene panel
A specific gene panel or targeted test for CHM, POU3F4, and nearby genes can be used when Ayazi syndrome or related X-linked retinal-deafness conditions are suspected. This test identifies exactly which genes are missing or changed.Whole-exome or whole-genome sequencing
In very unclear cases, exome or genome sequencing can be done. These tests read most or all genes and can show complex rearrangements or confirm a suspected Xq21 microdeletion. They are especially helpful in ultra-rare disorders like Ayazi syndrome.Basic metabolic and endocrine blood tests
Routine blood tests such as fasting glucose, lipid profile, thyroid hormones, and liver function tests are done to assess obesity-related risks and to rule out other causes of weight gain, fatigue, or developmental delay. While these tests do not prove Ayazi syndrome, they help with overall care.Genetic counseling assessment for the family
A session with a genetic counselor is not a lab test but is an important part of the diagnostic process. The counselor reviews the family tree, explains X-linked inheritance, estimates recurrence risk, and discusses options such as carrier testing or prenatal diagnosis.
Electrodiagnostic tests
Electroretinography (ERG)
ERG measures the electrical response of the retina to light. In choroideremia and related retinal dystrophies, ERG often shows reduced or absent signals, especially from rod cells. In Ayazi syndrome, ERG confirms that the retina is not functioning normally and helps stage disease severity.Visual evoked potentials (VEP)
VEP measures the electrical response of the brain’s visual cortex to visual stimuli. It can help evaluate the pathway from the eye to the brain and may be used in children who cannot describe their vision clearly. Abnormal VEP supports a diagnosis of serious retinal or visual pathway disease.Pure tone audiometry with speech testing
Although often considered a standard audiology test, audiometry is also an electro-acoustic test that maps hearing thresholds across frequencies. In Ayazi syndrome, it usually shows mixed hearing loss, and repeated tests can track progression over time.Brainstem auditory evoked responses (BAER / ABR)
BAER measures how sound signals travel from the ear to the brainstem. It is very useful for testing infants or people who cannot cooperate with standard audiometry. In Ayazi syndrome, BAER can confirm congenital or early sensorineural hearing loss and help define its severity.
Imaging tests
Optical coherence tomography (OCT) of the retina
OCT uses light waves to create cross-section images of the retina. In choroideremia, OCT shows thinning and loss of retinal layers and choroid. For Ayazi syndrome, OCT helps document the structural damage behind the visual symptoms and monitor changes over time.Fundus photography and autofluorescence imaging
High-resolution photos of the retina, sometimes with autofluorescence, record the pattern of pigment loss and atrophy. These images create a visual “map” of disease, which is useful for follow-up and for comparing affected males and female carriers in a family.CT or MRI of the temporal bone and brain
CT scans of the temporal bone can show abnormal middle-ear or inner-ear structures related to POU3F4 deletion, such as stapes fixation or other malformations. Brain MRI can check for other structural problems and rule out alternative causes of hearing loss or developmental delay.
Non-pharmacological treatments
1. Low-vision rehabilitation
Specialist low-vision clinics teach the child or adult how to use the remaining sight in the safest and most efficient way. This may include magnifiers, high-contrast reading materials, large-print books, and training to move safely in dim light or at night. The purpose is to keep independence for reading, school, and daily tasks. The main mechanism is teaching compensatory strategies so that the brain and body make the best use of limited vision, not improving the retina itself.
2. Orientation and mobility training
Orientation and mobility specialists help people with severe night blindness and visual field loss learn safe routes at home, school, and outdoors. They may teach cane skills, safe street crossing, and how to scan the environment. The purpose is to reduce falls and injuries and support active life. Mechanism: repeated practice and environmental planning build muscle memory and spatial maps in the brain.
3. Hearing aids and aural rehabilitation (when useful)
If any residual hearing is present, well-fitted hearing aids plus listening training can improve sound awareness and speech understanding. Aural rehab includes lip-reading training, communication strategies, and family education. The purpose is better communication and social interaction. The mechanism is amplifying sound and training the brain to recognise speech patterns despite inner ear damage.
4. Cochlear-implant habilitation (post-surgery therapy)
When cochlear implants are used, long-term therapy is needed afterwards. Speech and hearing therapists help the person learn to interpret the new electrical sound signals and build language skills. The aim is to turn the surgical device into real-life communication gains. Mechanism: repeated exposure and practice drive brain plasticity, so auditory areas learn to decode implant signals as meaningful sound.
5. Sign-language and total-communication training
For children with profound congenital deafness, early sign-language teaching (to the child and family) is crucial. “Total communication” means using sign, lip reading, gestures, pictures, and speech together. The purpose is to avoid language delay and social isolation. Mechanism: giving a rich visual language input early allows normal language networks to develop even without hearing.
6. Speech and language therapy
Speech therapists help with articulation, vocabulary, and understanding language. They may use pictures, apps, and simple routines. The purpose is to maximise communication for school, relationships, and independence. Mechanism: structured, repetitive language tasks strengthen brain circuits for speech, memory, and comprehension, especially in children with intellectual disability.
7. Special education and learning support
Many people with Ayazi syndrome have moderate learning difficulties. Special-education teachers adapt school work with large print, simple language, extra time, and one-to-one help. The aim is to match teaching to the child’s abilities so they can progress academically. Mechanism: reducing cognitive load and using multisensory teaching lets the student encode and recall information more effectively.
8. Occupational therapy for daily living skills
Occupational therapists work on dressing, feeding, writing, computer use, and home tasks, using adaptive tools (big-button phones, tactile labels, large-key keyboards). Purpose: support independence and reduce caregiver burden. Mechanism: task-specific training, environmental modification, and practice build new habits and motor patterns.
9. Physical therapy and balance training
Poor vision and, in some cases, delayed motor skills can cause clumsiness and falls. Physiotherapists work on strength, balance, and safe walking patterns. The aim is safer mobility, better fitness, and less fear of moving. Mechanism: repeated balance challenges improve coordination between muscles, joints, eyes, and inner-ear systems.
10. Behavioural and developmental therapy
Psychologists or behaviour therapists can help with attention problems, frustration, and challenging behaviours related to disability. They use positive reinforcement, routines, and coping tools. Purpose: improve behaviour at home and school and reduce stress for the family. Mechanism: consistent reward–consequence patterns reshape behaviour over time.
11. Nutritional counselling for obesity
Dietitians help create simple, realistic meal plans that are lower in calories but still enjoyable, taking into account local foods and family habits. Purpose: manage obesity and reduce risks of diabetes, high blood pressure, and joint problems. Mechanism: lowering calorie density and improving food choices shifts energy balance towards gradual weight loss.
12. Structured physical-activity programmes
Because vision and hearing problems may limit sports choices, planned safe exercise is important (indoor walking, stationary cycling, swimming with supervision, adapted games). Purpose: weight control, heart health, and mood. Mechanism: raising daily energy expenditure and improving insulin sensitivity help control body weight and metabolic health.
13. Sleep hygiene and possible sleep-apnoea support
Obesity and craniofacial features may increase the risk of obstructive sleep apnoea. Simple sleep rules (regular bedtimes, no heavy meals before bed, quiet dark room) plus CPAP if prescribed can improve sleep quality. Purpose: reduce daytime sleepiness, behaviour issues, and cardiovascular strain. Mechanism: supporting normal sleep cycles and oxygen levels.
14. Psychological counselling for patient and family
Chronic disability, progressive vision loss, and social barriers can lead to sadness, anxiety, or family conflict. Counseling provides a safe space to talk, learn coping skills, and plan for the future. The mechanism is emotional support, cognitive-behaviour tools, and problem-solving strategies that reduce distress.
15. Social-work and community support services
Social workers help families access disability benefits, school support, low-vision resources, transport services, and respite care. Purpose: reduce financial stress and caregiver overload. Mechanism: connecting families to existing systems and helping them navigate paperwork and rights.
16. Genetic counselling for the family
Because Ayazi syndrome is usually X-linked recessive, genetic counselling explains inheritance patterns, recurrence risk, and testing options for relatives. Purpose: informed family planning and early diagnosis in future pregnancies. Mechanism: DNA testing and risk calculation based on the family pedigree.
17. Environmental adaptations at home and school
Simple changes like good lighting, high-contrast edges on stairs, non-slip floors, labelled cupboards, and clear walkways make life safer. Purpose: prevent falls and help the person find things independently. Mechanism: reducing visual and physical barriers lowers accident risk and dependence on others.
18. Assistive technology (AT)
Screen-readers, magnification software, text-to-speech apps, vibrating alarms, and captioning tools help overcome sensory loss. Purpose: improved reading, writing, time management, and online access. Mechanism: technology replaces or boosts lost senses so information still reaches the brain.
19. Vocational training and supported employment
For adults, tailored job-skills training and supported employment programmes can match abilities with suitable work, such as jobs using touch or hearing more than vision. Purpose: independence, self-esteem, and income. Mechanism: structured training plus workplace accommodations.
20. Participation in clinical research (where appropriate)
In some countries, clinical trials for choroideremia gene therapy or visual aids may be open. Participation must always be voluntary and carefully explained. Purpose: potential access to new treatments and helping science progress. Mechanism: trial protocols testing new gene, cell, or device-based interventions under strict safety rules.
Drug treatments (based on components of Ayazi syndrome)
There is no single drug that cures Ayazi syndrome. Medicines are used to treat obesity and its complications, mental-health problems, and other associated conditions. Below are important drug groups often considered; all require specialist supervision and are not suitable for everyone, especially children or teens.
1. Orlistat (Xenical / Alli)
Orlistat is a lipase inhibitor used for obesity management. It blocks some fat absorption in the gut, so part of the fat eaten is passed out in stools instead of being stored. It is usually taken with meals that contain fat. The main purpose is weight loss and weight-maintenance in people with obesity. Common side effects are oily stools, gas, and urgent bowel movements, especially if the diet is high in fat.
2. GLP-1 receptor agonists: liraglutide (Saxenda)
Liraglutide injection is a GLP-1 receptor agonist approved for long-term weight management in adults and some adolescents with obesity, when combined with diet and exercise. It slows stomach emptying, reduces appetite, and improves insulin sensitivity, helping people eat less and lose weight. It is given once daily under the skin, with dose gradually increased. Possible side effects include nausea, vomiting, diarrhoea, and (rarely) gallbladder or pancreas problems.
3. GLP-1 receptor agonists: semaglutide injection (Wegovy)
Semaglutide injection once weekly is also a GLP-1 agonist approved for chronic weight management and for reducing cardiovascular risk in people with obesity and heart disease. It strongly reduces appetite and helps many people lose significant weight when combined with lifestyle change. Side effects are similar to liraglutide (GI upset, possible gallbladder issues), and there is a boxed warning about thyroid C-cell tumours seen in rodents.
4. Semaglutide tablets (for diabetes, sometimes helpful for weight)
Oral semaglutide tablets are approved for type 2 diabetes, not primarily for obesity, but they also improve blood sugar and reduce weight in many patients. In an individual with Ayazi syndrome who also has diabetes, this medicine might be considered by specialists as part of metabolic control. Side effects and thyroid warnings are similar to the injection.
5. Phentermine / topiramate extended-release (Qsymia)
This combination medicine is approved for chronic weight management in people with obesity. Phentermine decreases appetite; topiramate affects brain pathways related to satiety and cravings. It is taken once daily with careful dose titration. It can cause tingling, dizziness, mood changes, and must not be used in pregnancy because of birth-defect risk.
6. Naltrexone / bupropion extended-release (Contrave)
This combination tablet acts on brain reward and hunger circuits to reduce appetite and food cravings. It is approved for weight management in adults with obesity or overweight plus risk factors. It carries a boxed warning about suicidal thoughts (from the bupropion component) and has many important drug-interaction and seizure-risk cautions, so it must be prescribed and monitored carefully.
7. Metformin for insulin resistance or type 2 diabetes
Metformin is a first-line medicine for type 2 diabetes and insulin resistance. In people with obesity and high diabetes risk, it can improve blood sugar and modestly assist weight control. It works mainly by reducing glucose production in the liver and improving insulin sensitivity. The main risks are gastrointestinal upset and, rarely, lactic acidosis in high-risk patients.
8. Statins (e.g., atorvastatin)
Because long-term obesity increases cardiovascular risk, statins like atorvastatin may be used if cholesterol is high. These drugs block a liver enzyme (HMG-CoA reductase) to reduce LDL cholesterol and lower the risk of heart attack and stroke. They are usually taken once daily. Side effects can include muscle aches and rare liver or muscle injury.
9. Antihypertensive medicines (if high blood pressure develops)
If obesity and metabolic changes lead to high blood pressure, standard blood-pressure medicines such as ACE inhibitors, ARBs, or calcium-channel blockers may be used. The purpose is to reduce stroke and heart-disease risk and protect the kidneys. The mechanism is lowering vascular resistance, relaxing blood vessels, or reducing fluid load. Choice of drug depends on age, other illnesses, and local guidelines.
10. Vitamin and mineral replacement when deficient
People with restrictive diets or orlistat use may need extra fat-soluble vitamins (A, D, E, K) and sometimes B-complex or iron, depending on blood tests. These are usually given as oral tablets at standard recommended doses. The goal is to prevent deficiency-related problems such as anaemia, bone weakness, or night-vision worsening.
11. Psychotropic medicines (for significant mood or behavioural disorders)
In some individuals, anxiety, depression, or severe behavioural problems may require selective-serotonin reuptake inhibitors (SSRIs) or other psychiatric medicines. These are not specific to Ayazi syndrome but can improve quality of life when used along with therapy. Prescribing must be done cautiously by child or adult psychiatrists, with close monitoring for side effects and mood changes.
12. Short-term medicines for sleep or severe agitation (specialist use only)
Occasionally, short courses of sleep medicines or medicines for severe agitation may be needed (for example, around stressful medical procedures). These are used for the shortest time possible, at low doses, and only under supervision, because of risks of dependence or paradoxical agitation.
Because Ayazi syndrome is so rare, it is not realistic or evidence-based to list 20 separate, proven drug treatments that are specific to this condition. The medicines above focus on the most important, well-studied areas: obesity and metabolic risk, mental health, and vitamin balance. All medications must be tailored to the person’s age, other health problems, and local rules, and must never be started or changed without a doctor’s advice.
Dietary molecular supplements
(Use only under medical supervision, especially in children.)
1. Omega-3 fatty acids (fish-oil or algal oil)
Omega-3s may support heart and vessel health, especially in people with obesity and metabolic risk. They can modestly lower triglycerides and may reduce inflammation. Typical doses are in the range used for cardiovascular health, but exact dosing should come from a clinician. Mechanism: they change cell-membrane fatty-acid composition and influence inflammatory signalling and lipid metabolism.
2. Vitamin D
Vitamin D helps bone health, muscle strength, and immune function. Obesity is often linked to low vitamin D levels. Supplementation in standard daily or weekly doses can correct deficiency under medical guidance. Mechanism: acting as a hormone to regulate calcium, bone metabolism, and some immune pathways.
3. Calcium (with vitamin D, if needed)
Calcium supports bones and teeth. In individuals with reduced physical activity or steroid use, bone protection becomes important. Regular dietary intake plus supplements when intake is low can maintain bone density. Mechanism: providing building blocks for bone and helping proper nerve and muscle function.
4. Multivitamin with trace elements
A balanced multivitamin can cover small gaps in diet, especially when oral intake is picky, limited, or affected by weight-loss regimens. Doses usually follow recommended daily allowances. Mechanism: ensuring enzymes and metabolic pathways have their required co-factors.
5. Lutein and zeaxanthin (eye-health carotenoids)
These carotenoids concentrate in the macula and may support retinal health in some conditions. Evidence is stronger in age-related macular degeneration, not specifically in choroideremia, but some doctors consider them as an adjunct. Mechanism: antioxidant effects and light-filtering properties that may protect photoreceptors.
6. B-complex vitamins (especially B6, B9, B12)
These vitamins support nerve health, red-blood-cell production, and energy metabolism. In people with limited diets or malabsorption, supplementation can prevent anaemia and neuropathy. Mechanism: acting as co-enzymes in many metabolic pathways.
7. Probiotics
Probiotic supplements containing beneficial bacteria may support gut health and metabolic balance, especially during changes in diet. Mechanism: modifying gut microbiota, which can affect energy extraction from food and low-grade inflammation.
8. Fibre supplements (psyllium, inulin)
When diet is low in fibre, simple fibre supplements can improve satiety, bowel habits, and cholesterol levels. Mechanism: adding bulk, slowing digestion, and binding some cholesterol and bile acids.
9. Protein supplements (if intake is low)
If someone eats poorly or loses weight too quickly, protein powders or fortified drinks may help maintain muscle mass while still controlling calories. Mechanism: providing essential amino acids for muscle repair and immune function.
10. Antioxidant blends (vitamin C, vitamin E, etc.)
Some people use antioxidant combinations hoping to protect retinal or neural tissue. Evidence in Ayazi syndrome is limited, and high doses of some antioxidants may be harmful, so they should only be used at standard doses and under professional advice. Mechanism: scavenging free radicals and reducing oxidative stress.
Regenerative, immunity-supporting, and stem-cell–related approaches
1. Experimental gene therapy for choroideremia
Several clinical trials are testing viral-vector gene therapy (AAV-based) for choroideremia, aiming to deliver a healthy CHM gene to retinal cells. Results so far suggest possible stabilisation or modest improvement of vision in some patients, but no therapy is yet fully approved for this specific condition. Mechanism: replacing the missing gene so cells can produce normal REP-1 protein.
2. Future retinal cell or tissue replacement
Research is exploring retinal pigment epithelium (RPE) cell transplants or photoreceptor cell layers derived from stem cells for inherited retinal diseases. In the future, such approaches might help people with advanced choroideremia, but at present they remain experimental and available only in trials. Mechanism: replacing dead retinal cells with functioning ones to preserve or restore vision.
3. General vaccination to support immune resilience
Routine vaccines (influenza, COVID-19, pneumococcal, etc.) do not cure Ayazi syndrome, but they support the immune system by preventing serious infections that could worsen overall health. Mechanism: training the immune system to recognise and fight specific pathogens quickly.
4. Nutritional and lifestyle immune support
Adequate sleep, balanced diet, regular moderate exercise, and stress management help keep the immune system functioning well. This is important for anyone with chronic illness. Mechanism: reducing chronic stress hormones, supporting gut health, and optimising metabolic function.
5. Neuroprotective research drugs (future possibilities)
Some research focuses on neuroprotective molecules for retinal or neural degeneration in inherited diseases. These drugs are not established therapy for Ayazi syndrome and should only be used within properly approved clinical trials. Mechanism: trying to slow cell death or improve cell survival pathways in retina or brain.
6. Experimental cell-based therapies for inner-ear damage
Early studies are investigating stem-cell or gene-based methods to repair inner-ear structures in deafness. None is currently routine clinical care. For Ayazi-related congenital deafness, such treatments remain a long-term research hope, not a standard option. Mechanism: regenerating hair cells or auditory neurons to restore some hearing.
Surgeries (procedures)
1. Cochlear implant surgery
For severe or profound sensorineural deafness, cochlear implants can bypass damaged inner-ear hair cells and directly stimulate the hearing nerve. The purpose is to restore access to sound and speech. After surgery, intensive hearing and speech therapy is essential for benefit.
2. Middle-ear surgery for conductive components (e.g., stapes surgery)
If there is a conductive element to the deafness (for example, stapes fixation), ENT surgeons may perform procedures to repair or replace small ear bones. The aim is to improve sound conduction from the eardrum to the inner ear.
3. Bariatric (weight-loss) surgery
In adults with severe obesity and serious complications, and who have failed non-surgical methods, bariatric procedures such as sleeve gastrectomy or gastric bypass may be considered. These surgeries reduce stomach size and sometimes alter gut hormones, leading to significant weight loss and improved metabolic health. They are major operations and need lifelong follow-up.
4. Strabismus (squint) surgery
If the person has strabismus that causes double vision or cosmetic concerns, eye-muscle surgery may be used to realign the eyes. The purpose is more comfortable single vision and better appearance, which can help social confidence.
5. Cataract or other eye surgeries if needed
If cataracts or other treatable eye problems develop on top of choroideremia, standard eye surgeries may improve the remaining vision. The goal is to remove any extra obstacles to sight so that people can use their residual retinal function as effectively as possible.
Prevention
Because Ayazi syndrome is genetic, we cannot prevent the condition itself in a born child. Prevention mainly focuses on familial risk management and complication control:
Genetic counselling for families with a known Xq21 deletion to understand inheritance and risk in future pregnancies.
Carrier testing for female relatives when appropriate.
Prenatal or pre-implantation genetic diagnosis in some settings for families who choose these options.
Healthy weight management from childhood to reduce extra strain from obesity-related risk on top of genetic obesity tendency.
Regular eye checks to detect treatable problems (like cataract) early.
Regular hearing reviews to adjust aids or implants and detect middle-ear infections quickly.
Vaccinations and infection prevention, especially for respiratory infections that could worsen overall health.
Early developmental and educational support to prevent avoidable delay and behavioural issues.
Safe home and school environments to prevent falls and injuries due to poor vision.
Routine screening for blood pressure, cholesterol, and diabetes in older children, teens, and adults with obesity so problems are treated early.
When to see a doctor
You should urgently or promptly see a doctor (or take a child to a doctor) if:
Vision seems to worsen quickly, with new difficulty seeing in bright light or sudden loss of central vision.
There is a sudden big change in hearing, pain, discharge, or balance problems.
The person has loud snoring, pauses in breathing at night, or serious daytime sleepiness.
Weight increases very fast, or there are signs of diabetes (excessive thirst, frequent urination, unexplained weight loss).
School performance suddenly drops, behaviour becomes very aggressive or withdrawn, or there are thoughts of self-harm or hopelessness.
There are new seizures, repeated falls, or serious headaches.
Regular planned visits with ophthalmology, ENT/audiology, endocrinology/weight clinic, genetics, and developmental/mental-health services are also important, even when no new symptom appears.
Diet: what to eat and what to avoid
What to eat (5 points)
Plenty of vegetables and fruits – especially colourful ones; they provide fibre, vitamins, and antioxidants with relatively few calories.
Whole grains such as brown rice, whole-wheat bread, and oats for slow-release energy and better blood-sugar control.
Lean protein like fish, eggs, beans, lentils, and skinless poultry to support muscles and keep you full.
Healthy fats from nuts, seeds, olive oil, and small amounts of fatty fish; these help heart health and satisfaction after meals.
Water as the main drink, with unsweetened tea or coffee if allowed, to reduce sugary beverage intake.
What to avoid or limit (5 points)
Sugary drinks such as soda, energy drinks, and many fruit juices, because they add many calories with little nutrition.
Highly processed snacks (chips, biscuits, instant noodles) that are rich in salt, sugar, and unhealthy fats.
Fast foods and deep-fried foods, which are very energy-dense and make weight control much harder.
Very large portions; using smaller plates and practising mindful eating can help.
Excessive late-night eating, which may worsen weight gain and sleep quality.
All dietary changes should be planned with a dietitian, especially in children and teens, so that growth and nutrition remain adequate.
Frequently asked questions (FAQs)
1. Is Ayazi syndrome the same as choroideremia?
No. Choroideremia is the retinal disease. Ayazi syndrome is a contiguous gene deletion that causes choroideremia plus deafness, obesity, and intellectual disability together.
2. Can Ayazi syndrome be cured?
At present, there is no cure. Treatment focuses on managing symptoms, slowing complications, and supporting learning, communication, and quality of life.
3. Does everyone with Ayazi syndrome go completely blind?
Many affected males develop severe vision loss in adulthood, but the speed and degree can vary. Early low-vision support helps them use remaining sight for as long as possible.
4. Will hearing always be very poor?
Congenital deafness is typical, but the exact level varies. Some people benefit from hearing aids or cochlear implants; others rely mainly on sign language and visual communication.
5. Is the obesity part “just lifestyle”?
No. There seems to be an internal biological tendency toward obesity in this syndrome, but lifestyle (diet, activity, sleep) still has a strong effect and can improve health outcomes.
6. Can gene therapy help right now?
Gene-therapy trials for choroideremia are ongoing, and some results look promising, but no gene therapy is yet standard care for Ayazi syndrome. People may be offered trials in specialised centres only.
7. Are weight-loss injections safe for this condition?
Medicines like liraglutide or semaglutide are approved for obesity and may be considered if the person meets criteria, but they have important warnings and side effects. A specialist must weigh risks and benefits for each individual.
8. Does diet alone ever work for weight control?
For some people, consistent diet change plus activity leads to meaningful weight loss; for others, medicines or surgery may be needed. Even small weight reductions improve health and are worth working towards.
9. Can children with Ayazi syndrome attend regular school?
Many can, especially with support such as large-print materials, assistive technology, and special-education services. Some may do better in specialised settings. The best plan is individual.
10. Is life expectancy always shortened?
We do not have large long-term studies, but life expectancy is likely influenced by obesity-related disease (diabetes, heart disease), accidents due to vision loss, and access to care. Good medical follow-up can improve outlook.
11. How often should eyes and ears be checked?
Usually at least yearly, and more often if changes are noticed. Specialists may suggest different intervals depending on age and disease stage.
12. Can girls have Ayazi syndrome?
Girls with the deletion are usually carriers, often with mild retinal changes but without the full syndrome. Rarely, if X-inactivation is skewed, they can show more symptoms.
13. Will my next child definitely have Ayazi syndrome?
No. Risk depends on whether the mother is a carrier and on the baby’s sex. Genetic counselling and testing are needed to estimate the exact chance.
14. What specialists should be on the care team?
Typically: ophthalmologist, ENT/audiologist, paediatrician or internist, endocrinologist/weight specialist, geneticist, neurologist or developmental paediatrician, psychologist/psychiatrist, dietitian, physical/occupational/speech therapists, and social worker.
15. What is the most important thing families can do?
Start early, coordinated support—for vision, hearing, learning, and weight—while also caring for emotional health of the whole family. Building a strong, informed care team and stable routines usually makes the biggest difference over time.
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: January 15, 2026.
