Macular Atrophy-Chorioretinopathy Syndrome

Macular atrophy-chorioretinopathy syndrome is a very rare eye disease present from birth. In this disease the back part of the eye (the retina) and the layer under it (the choroid) do not develop in a normal way. The optic disc (where the nerve enters the eye) looks like a coloboma, which means there is a missing piece of tissue. The macula, which gives sharp central vision, is thin and damaged (atrophy). Around the optic disc there is also chorioretinal atrophy (thinning of retina and choroid). [1]

Macular atrophy–chorioretinopathy syndrome is usually part of a very rare genetic condition called colobomatous optic disc–macular atrophy–chorioretinopathy syndrome. In this disorder, the optic disc (where the nerve enters the eye) is abnormal, the macula is thinned or “atrophic”, and there is scarring or thinning of the choroid and retina (chorioretinopathy). Children often have poor visual acuity from early life and may have eye shaking (nystagmus) and colobomas (developmental gaps) of the iris or retina.

Because the problem is structural and genetic, there is no simple cure or single “standard drug” for this syndrome. Treatment focuses on protecting the remaining vision, preventing complications (like retinal detachment or choroidal neovascularization), and giving strong low-vision support at school and home. Where needed, doctors may adapt modern therapies that were developed for other macular diseases (for example age-related macular degeneration and geographic atrophy), but this is always individualized and specialist-led.

Because of these changes, babies often have poor central vision and horizontal nystagmus (the eyes move quickly side-to-side). Some people also have missing pieces of tissue in the colored part of the eye (iris coloboma). The problem is genetic, so it is caused by a change in a gene, and it usually affects both eyes. [2]

Other names

Doctors and databases use several names for this condition. These names often describe the same disease from slightly different views. [3]

Other names 

• Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

• Colobomatous optic disc with macular atrophy and chorioretinopathy

• Optic disc anomalies with retinal and/or macular dystrophy

• Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome

• MONDO:0008927, OMIM entries linked to this syndrome (used in genetics databases)

Types

There is no strict official type system, but doctors sometimes group patients in easy ways: [4]

1. Main eye-only type – only the optic discs, macula, and nearby retina/choroid are affected; the rest of the body is healthy.

2. Eye type with extra eye malformations – there is macular atrophy and colobomatous optic discs plus iris coloboma or larger chorioretinal colobomas.

3. Eye type with variable severity – some people have milder macular atrophy and can read large print; others have very poor vision and large areas of atrophy.

These “types” help doctors talk about how severe the disease is, but they are all part of the same basic genetic condition. [5]

Causes

1. Pathogenic gene variant (main cause)
   The central cause is a harmful change (mutation) in a gene that controls how the optic disc, macula, and choroid develop. This change is present in all cells from birth and leads to abnormal eye structures and atrophy over time. [6]

2. Autosomal recessive inheritance
   Most reports describe autosomal recessive inheritance. This means a child gets one faulty copy of the gene from each parent. The parents are usually healthy “carriers,” but their child can develop the disease when both faulty copies meet. [7]

3. Carrier parents from the same family line
   When parents are related (consanguineous marriage), they are more likely to carry the same rare gene variant. This increases the chance of a baby being born with this recessive syndrome. [8]

4. New (de novo) mutation
   In some rare cases the gene change may happen for the first time in the child, not inherited from parents. This is called a de novo mutation. The parents’ genes may be normal, but the child’s eye tissues still develop abnormally. [9]

5. Abnormal optic disc development
   During early pregnancy, the area where the optic nerve enters the eye must close and form correctly. In this syndrome that process is disturbed, so the optic disc looks like a coloboma and blood vessels leave from the wrong place at the edge of the disc. [10]

6. Failure of optic fissure closure
   The optic fissure is a normal early gap in the forming eye that must close. When closure is incomplete, it can cause colobomas of the optic disc, retina, and choroid, which are key parts of this syndrome. [11]

7. Abnormal development of the macula
   The macula is a special central area of the retina. In this condition the cells in the macula do not fully develop or are lost early, leading to macular atrophy and poor central vision. [12]

8. Chorioretinal atrophy mechanism
   The choroid (blood-rich layer) and retina thin and degenerate. This may be due to poor blood supply, abnormal support cells, or direct effect of the gene defect on these tissues, causing chorioretinal atrophy around the optic disc and macula. [13]

9. Loss of retinal pigment epithelium (RPE)
   The RPE is a layer of cells that nourishes photoreceptors. Gene changes can make RPE cells fragile. When they degenerate, the photoreceptors above them die, adding to macular and chorioretinal atrophy. [14]

10. Photoreceptor degeneration
    Rod and cone cells, which sense light, may slowly die because the supporting layers are abnormal. This cell loss contributes to poor visual acuity and scotomas (blind spots). [15]

11. Secondary changes from abnormal retinal blood flow
    Odd position of retinal blood vessels on the colobomatous disc may alter blood flow to nearby retina and macula. Over time this can worsen local atrophy. [16]

12. Genetic background of the family
    Some families may have additional gene variants in other retinal dystrophy genes. These extra variants can modify how severe the macular atrophy and chorioretinopathy become. [17]

13. Epigenetic influences
    Even with the same mutation, the way genes are turned on or off (epigenetics) may differ between family members. This can partly explain why some relatives see better than others even though they share the same basic syndrome. [18]

14. Random developmental variation
    Eye development is complex and involves many steps. Small random differences in these steps may decide how large the coloboma is and how wide the chorioretinal atrophy extends in each person. [19]

15. Possible role of yet-unknown genes
    Not all families have a clearly identified gene. This suggests there are still unknown genes that can produce this same clinical picture when mutated. [20]

16. Other genetic retinal dystrophies in the differential
    Some conditions such as central areolar choroidal dystrophy or hereditary chorioretinal atrophies look similar and have overlapping gene pathways. Studying them helps researchers understand mechanisms for this syndrome as well. [21]

17. Genetic changes affecting optic nerve guidance
    Genes that guide nerve fibers from the eye to the brain can also influence how the optic disc is formed. Abnormal signaling here can contribute to disc anomalies seen in this syndrome. [22]

18. Gene–environment interaction (theoretical)
    The main cause is genetic, but factors such as nutrition in early pregnancy or maternal illness might slightly change how severe the eye malformation becomes. Evidence is limited, but this is discussed in broader coloboma literature. [23]

19. Chance of recurrence in siblings
    Because of recessive inheritance, each pregnancy of carrier parents has a 25% chance of another affected child. This is not a separate cause but explains why several siblings in the same family can have the condition. [24]

20. Unknown or unproven factors
    For some patients, doctors cannot fully explain why the atrophy looks more widespread or progresses differently. These cases are listed as idiopathic variation within the same genetic syndrome. [25]

Symptoms

1. Poor central vision from early life
   Many babies and children have blurred central vision from the start. Parents may notice that the child does not fix and follow faces well, or that school-age children struggle to read the board or books. [26]

2. Horizontal nystagmus
   The eyes may move quickly from side to side, especially when the child tries to look at an object. This nystagmus happens because the brain cannot get a clear central image from the damaged macula. [27]

3. Reduced visual acuity in both eyes
   Vision is reduced in both eyes because both maculae and both optic discs are affected. Glasses can correct any refractive error but cannot fully fix the central atrophy. [28]

4. Central scotoma (blind spot)
   Patients may describe a dark or blurred area in the middle of what they look at. They can see better from the side (peripheral vision) but not straight ahead, making reading and face recognition hard. [29]

5. Photophobia (light sensitivity)
   Some patients feel discomfort or glare in bright light. This may be due to loss of normal retinal pigment and abnormal reflection from atrophic areas. Sunglasses often help. [30]

6. Reduced contrast sensitivity
   Even when letters are large, patients may struggle to see pale objects against a pale background. This low contrast sensitivity comes from damage to the macular photoreceptors. [31]

7. Difficulty reading and doing near work
   Because central vision is poor, reading small print, threading a needle, or doing detailed crafts is very difficult. Many people need magnifiers or large-print materials. [32]

8. Eye misalignment (strabismus)
   Some children develop an eye turn (squint). The brain may suppress the poorer image from one eye, which can lead to misalignment as the child grows. [33]

9. Abnormal head posture
   To get the best view, patients may tilt or turn the head or use a particular gaze direction where vision feels a little clearer. Parents often notice this unusual head position. [34]

10. Delayed visual milestones
    Babies may reach for toys later or not track moving objects normally. This delay is due to the early visual impairment but does not mean there is necessarily a brain problem. [35]

11. Difficulty with fine motor tasks
    Because central vision helps guide hands, children may find it harder to write neatly, catch small balls, or do precise handwork. They may need extra practice and adaptations. [36]

12. Stable or slowly changing vision
    In some people, vision is poor but relatively stable over years. In others, atrophy may slowly extend, and central vision may worsen over time. This pattern varies between families. [37]

13. No pain or redness
    The eyes usually do not hurt and are not red. This helps doctors distinguish the condition from active infection or inflammation, which often cause pain and redness. [38]

14. Normal general health
    Most people have no serious problems in the rest of the body. Growth, intelligence, and other organs are usually normal, so the main issue is visual disability. [39]

15. Psychological and social impact
    Low vision can cause frustration, low confidence, or problems at school and work. Early support, special education services, and counseling can help the person live more independently. [40]

Diagnostic tests

Doctors use many tests to confirm the diagnosis, measure vision, and rule out similar diseases. Together they show the structure of the eye and how well it works. [41]

Physical exam tests

1. General eye and body examination
   The doctor first looks at the whole person and both eyes. They check head shape, face, eyelids, and pupils, and look for any birth defects in other organs. This helps decide if the eye problem is part of a wider syndrome or only affects the eyes. [42]

2. Visual acuity test (distance and near)
   The patient reads letters or symbols on a chart at distance and near. For young children, simple pictures or matching tests are used. This test shows how clear the central vision is and helps track any changes over time. [43]

3. Pupil reactions and eye movements
   The doctor shines a light to see if pupils react normally and asks the patient to follow a moving target to assess eye movements and nystagmus. Abnormal movements support the history of long-standing central visual loss. [44]

4. Strabismus and head posture assessment
   The alignment of the eyes is checked while the patient looks in different directions. Any squint or abnormal head turn is noted. This helps plan visual aids and sometimes orthoptic therapy. [45]

Manual functional eye tests

5. Confrontation visual field test
   The doctor sits opposite the patient and moves fingers in different parts of the field while the patient looks at their nose. This simple test can detect large central or peripheral blind spots caused by macular and chorioretinal atrophy. [46]

6. Amsler grid test
   The patient looks at a small square grid on paper. If central lines look wavy, broken, or missing, this suggests macular damage. Patients with this syndrome often see missing or blurred central squares. [47]

7. Color vision testing
   Special color plates or charts are used to see if the patient can recognize colored numbers or patterns. Macular and retinal dystrophies can cause color vision problems, so this test adds useful information. [48]

8. Refraction (glasses measurement)
   Using lenses and a retinoscope or autorefractor, the eye doctor measures any nearsightedness, farsightedness, or astigmatism. Correcting these errors with glasses gives the best possible remaining vision, even though atrophy itself cannot be reversed. [49]

9. Dilated ophthalmoscopy (fundus exam)
   After dilating drops, the doctor looks inside the eye with an ophthalmoscope. They can clearly see the colobomatous optic disc, macular atrophy, peripapillary chorioretinal atrophy, and any retinal or iris colobomas. This is a key clinical test. [50]

10. Slit-lamp biomicroscopy of the fundus
    Using a slit-lamp with special lenses, the doctor views the back of the eye under magnification. This shows fine details of the macula, choroid, and optic disc edges and helps document the pattern of atrophy. [51]

Laboratory and pathological tests

11. Targeted gene panel testing
    A blood sample is taken and DNA is tested for known genes linked to this syndrome and related optic disc/macular dystrophies. Finding a pathogenic variant confirms the diagnosis and allows family testing and genetic counseling. [52]

12. Whole-exome or whole-genome sequencing
    When a panel is negative, broader DNA tests may be done to search across many genes. This can discover new genes or rare variants that explain the condition in families that do not match known mutations. [53]

13. Basic blood tests to exclude other causes
    Tests such as full blood count, inflammatory markers, autoimmune screen, or infectious serology may be ordered mainly to exclude acquired chorioretinopathies and systemic diseases that can mimic this congenital syndrome. [54]

14. Metabolic or nutritional screening in selected cases
    If there is suspicion of another inherited metabolic disease alongside the eye findings, extra blood or urine tests can be done. In classic macular atrophy-chorioretinopathy syndrome, these are usually normal. [55]

Electrodiagnostic tests

15. Full-field electroretinogram (ERG)
    The ERG measures the electrical response of rods and cones to light flashes. In this syndrome, responses may be reduced or altered, showing how much of the retina is functioning and helping distinguish it from other dystrophies. [56]

16. Multifocal ERG
    This more detailed test looks at function in many small retinal areas, especially the central macula. It often shows reduced or absent responses in the macular region where atrophy is present. [57]

17. Visual evoked potentials (VEP)
    Electrodes on the scalp record the brain’s response to visual stimuli. VEP testing helps show whether signals from the eye reach the visual cortex and can rule out some optic nerve and brain disorders when interpreting the poor vision. [58]

Imaging tests

18. Fundus photography
    High-resolution color photos of the back of the eye record the pattern of optic disc coloboma, macular atrophy, and chorioretinal lesions. These images are used to follow changes over years and to share findings with other specialists. [59]

19. Optical coherence tomography (OCT)
    OCT is like an “optical ultrasound” that makes cross-section images of the retina. It clearly shows thinning of the macula, loss of outer retinal layers, and structural changes near the optic disc. It is one of the most important tools in this syndrome. [60]

20. Fundus autofluorescence and angiography (FA / OCT-A)
    Fundus autofluorescence shows patterns of RPE health, often highlighting atrophic areas as dark patches. Fluorescein angiography or OCT-angiography shows blood flow in retina and choroid. These tests help distinguish this inherited pattern from other macular diseases such as age-related macular degeneration or central serous chorioretinopathy. [61]

Non-pharmacological treatments (therapies and other measures)

1. Low-vision rehabilitation programs
Specialist low-vision clinics teach the child or adult how to use the remaining central and peripheral vision in practical ways. Training may include reading techniques, contrast enhancement, and use of magnifiers or electronic aids. Early referral improves independence, school performance and quality of life and is one of the most important “core treatments” for macular atrophy–chorioretinopathy syndrome.

2. Optical magnification (hand, stand and spectacle magnifiers)
Simple magnifiers, high-plus reading glasses and telescopic spectacles enlarge print and distant objects so that damaged macular areas are bypassed and healthier retina can be used. The exact device is chosen after careful refraction and trial. Many patients need different magnifiers for reading, computer work and mobility, and they often combine them with bright task lighting for best effect.

3. Electronic visual aids (CCTV, tablet and screen readers)
Closed-circuit television magnifiers, tablets with zoom and high-contrast modes, and screen-reading software allow text to be made extremely large or converted to speech. These tools help with reading books, schoolwork, medication labels, and phone screens. They can be updated as technology improves and are often easier for young people who are already comfortable with digital devices.

4. High-contrast and task lighting at home and school
Bright, directed light on reading material (for example an adjustable LED lamp) plus good room lighting can significantly improve function for people with macular disease. Non-glare bulbs and matte surfaces reduce reflections, which can be disturbing in atrophic or scarred macula. Teachers can seat the child where lighting is best and use bold black markers on white boards.

5. Large-print and accessible educational materials
Textbooks, exam papers, and classroom materials can be supplied in large print or electronic formats so the font and contrast can be adjusted. Simple changes such as wider line spacing, bold fonts and high-contrast diagrams reduce visual strain. Early documentation of visual impairment helps secure school accommodations and extra time for reading tasks.

6. Orientation and mobility training
Children with severe central vision loss may bump into obstacles, misjudge steps, or struggle with busy environments. Orientation and mobility specialists teach safe navigation, use of landmarks, and sometimes long-cane skills. The aim is to prevent accidents, build confidence, and allow independent travel to school and later to work.

7. Occupational therapy for daily-living adaptations
Occupational therapists analyse how visual loss affects dressing, cooking, writing and hobbies, then suggest practical adaptations. Examples include tactile markings on appliances, high-contrast chopping boards, raised stickers on medicine bottles and organized storage systems. These adjustments save time, reduce frustration and lower the risk of injury in the home.

8. Sunglasses and UV / blue-light protection
High-quality sunglasses with full UV-A and UV-B protection and sometimes blue-light–filter tints can reduce glare and may help protect remaining retinal cells from light-related stress. Wrap-around frames or fit-over shields are useful in bright outdoor conditions. Tinted lenses can also improve contrast and comfort for some patients.

9. Protective polycarbonate spectacles
Because the structure of the eye is abnormal, any trauma can cause serious damage, including retinal detachment. Polycarbonate safety lenses are impact-resistant and protect the eye during sports and daily life. Even if the refractive error is small, wearing protective glasses is often advised to safeguard fragile eyes.

10. Early intervention and developmental support in childhood
Babies and toddlers with visual impairment need early stimulation programs that use touch, sound and safe movement to support brain and motor development. Specialist teachers for the visually impaired can guide parents on play activities, positioning, and how to encourage visual attention without over-straining the eyes.

11. Psychosocial counselling and support groups
Living with a rare genetic eye disease can cause sadness, anxiety and social isolation, especially in teenagers who may feel different from their peers. Counselling, peer support groups and family education reduce emotional burden and improve coping skills. Mental health care is part of holistic eye care, not a separate luxury.

12. Assistive technology and accessibility settings
Using built-in accessibility tools (large cursor, high contrast, screen readers, voice assistants) on phones and computers helps patients study and work more efficiently. Many operating systems allow custom color schemes and zoom functions that are very useful when the macula is damaged. Training in these tools should start early.

13. Driving and safety assessments (for older adolescents/adults)
In countries where driving is allowed only above certain visual thresholds, formal assessment helps decide whether driving is safe or needs to be avoided completely. For some people, choosing not to drive is safer than forcing borderline vision, and planning for alternative transport protects both the patient and public.

14. Home safety modifications
Simple environmental changes such as contrasting stair edges, grab rails in bathrooms, non-slip mats and clutter-free corridors reduce the risk of falls and injuries. Labelling cupboards and using high-contrast chopping boards or plates also make cooking safer and more enjoyable.

15. Genetic counselling for the family
Because the syndrome is usually autosomal recessive, parents may be carriers and siblings could be affected or carriers. Genetic counselling explains inheritance patterns, options for family planning, and the possibility of genetic testing. This does not treat the eye disease but helps prevent surprises in future pregnancies.

16. Regular full-eye examinations and systemic review
Even though the main problem is congenital, complications such as cataract, glaucoma, or retinal tears can appear later. Regular eye exams with wide-field imaging and OCT help detect problems early, when they may be easier to manage. The doctor also monitors for associated systemic features if the syndrome is part of a wider genetic disorder.

17. Lifestyle measures: no smoking and good cardiovascular health
Smoking, uncontrolled blood pressure, and high cholesterol damage the retina and choroid further, similar to age-related macular degeneration. Avoiding smoking and keeping blood pressure, blood sugar and lipids under control support the remaining retinal circulation and may help slow additional damage.

18. Sleep and stress management
Poor sleep and chronic stress can make visual symptoms feel worse and reduce concentration when using low-vision aids. Simple routines like regular sleep times, short breaks during near work, relaxation exercises and physical activity can improve overall functioning and reduce eye strain.

19. Training family and teachers in visual communication
Family members and teachers can learn practical habits such as speaking before touching, describing actions, using clear verbal instructions, and allowing extra time for visual tasks. These simple communication skills reduce frustration and help the person with macular atrophy–chorioretinopathy syndrome participate fully in daily life.

20. Participation in clinical registries and research studies
Where available, enrolling in registries for rare inherited retinal diseases helps researchers understand the natural history of the syndrome and may open doors for future gene or cell-based therapies. Data are anonymized and participation is voluntary, but these programs are the foundation for tomorrow’s targeted treatments.

---

Drug treatments

At present there are no drugs specifically approved for “colobomatous optic disc–macular atrophy–chorioretinopathy syndrome”. The medicines below are examples of how ophthalmologists may treat associated complications like macular edema, choroidal neovascularization or geographic atrophy, using drugs that are approved for other macular diseases. Always follow your retina specialist’s guidance.

1. Complement C3 inhibitor pegcetacoplan (Syfovre)
Pegcetacoplan is a complement C3 inhibitor approved for geographic atrophy secondary to age-related macular degeneration and is given by intravitreal injection once every 25–60 days by a trained eye doctor. It slows enlargement of atrophic lesions, although it does not restore lost vision and can increase the risk of inflammation and neovascularization. In macular atrophy–chorioretinopathy syndrome, use would be highly experimental and only considered in specialized research settings.

2. Complement C5 inhibitor avacincaptad pegol (Izervay)
Avacincaptad pegol blocks complement component C5 and is also approved for geographic atrophy secondary to AMD, given as intravitreal injections at regular intervals. Clinical trials show reduced growth of atrophic areas compared with sham treatment, with side effects including elevated intraocular pressure, intraocular inflammation and rare ischemic events. Any use in this syndrome would again be off-label and limited to cases with overlapping geographic atrophy patterns under expert supervision.

3. Anti-VEGF agents (aflibercept, ranibizumab, brolucizumab, faricimab)
These drugs inhibit vascular endothelial growth factor (VEGF) to control abnormal blood vessel growth and leakage in wet AMD, diabetic macular edema and similar conditions. Examples include aflibercept (Eylea, Eylea HD), ranibizumab (Lucentis, Susvimo implant), brolucizumab (Beovu) and faricimab (Vabysmo). They are injected into the vitreous at intervals ranging from 4 to 16 weeks, with main risks of infection, inflammation and increased intraocular pressure. They may be considered only if a patient with this syndrome develops secondary choroidal neovascularization.

4. Verteporfin photodynamic therapy (Visudyne)
Verteporfin is a photosensitizing drug given by intravenous infusion, followed by activation in the eye using a special laser to seal leaking choroidal neovascular membranes. It was developed for predominantly classic choroidal neovascularization in AMD and is sometimes used for chronic central serous chorioretinopathy. Side effects include infusion-related reactions, transient vision loss and photosensitivity requiring strict light protection. In this syndrome, it might be used only if specific treatable neovascular lesions develop.

5. Dexamethasone intravitreal implant (Ozurdex)
Ozurdex is a biodegradable implant that slowly releases dexamethasone into the vitreous cavity to treat macular edema from retinal vein occlusion, non-infectious uveitis and certain diabetic eyes. It reduces inflammation and fluid but may raise intraocular pressure and accelerate cataract formation. In macular atrophy–chorioretinopathy, it might be considered if significant inflammatory macular edema co-exists.

6. Intravitreal triamcinolone acetonide (Triesence / similar)
Triamcinolone injectable suspension is an intraocular steroid used for severe ocular inflammation and sometimes for macular edema, providing powerful but temporary anti-inflammatory action. It is injected into the vitreous at doses such as 4 mg under strict aseptic conditions, with risks of glaucoma, cataract and infection. It is rarely used long-term but may help in carefully selected eyes with inflammatory complications.

7. Topical lubricating eye drops (artificial tears)
Although these drops do not treat macular atrophy itself, many patients have associated dry-eye symptoms from reduced blinking or nystagmus. Preservative-free artificial tears improve comfort, reduce foreign-body sensation and support the ocular surface, which is important for clear images reaching the retina. Over-the-counter products are usually safe but should still be checked with an eye care professional.

8. Topical anti-inflammatory drops (NSAID or mild steroid)
Non-steroidal anti-inflammatory eye drops or short courses of mild topical steroids may be used after surgery or in associated inflammatory conditions to control pain and swelling. They act mainly at the front of the eye but can indirectly help visual comfort. Long-term steroid use is avoided because it can induce glaucoma and cataract, so follow-up monitoring is essential.

9. Systemic corticosteroids (for associated uveitis or systemic inflammation)
If the patient has associated systemic autoimmune disease or posterior uveitis, short-term systemic steroids may be given to control inflammation. These medicines are powerful and can cause weight gain, high blood sugar, mood changes, osteoporosis and infection risk, so they are prescribed at the lowest effective dose for the shortest possible time.

10. Systemic immunosuppressants / biologics (in selected overlap syndromes)
Some genetic or autoimmune syndromes that affect the choroid and retina may also require steroid-sparing immunosuppressants, such as methotrexate or biologic agents, to control inflammation. These do not fix the congenital macular atrophy but protect the eye from additional immune-related damage. They are managed jointly by rheumatology and ophthalmology teams with regular blood tests.

11. Oral carbonic anhydrase inhibitors (e.g., acetazolamide) for cystoid macular edema
In other inherited retinal diseases, short courses of carbonic anhydrase inhibitors can reduce cystoid macular edema and improve retinal architecture on OCT. They work by altering fluid transport in the retinal pigment epithelium and choroid. Side effects include tingling, kidney stone risk and metabolic acidosis, so they must be monitored carefully.

12. Intraocular pressure-lowering drugs (for glaucoma or ocular hypertension)
If optic nerve damage or high eye pressure develops (which can happen in eyes with structural anomalies), glaucoma drops such as prostaglandin analogues, beta-blockers or carbonic anhydrase inhibitors may be used to protect the optic nerve. These medicines reduce the risk of further field loss on top of the existing macular problem.

13. Anti-oxidant oral formulations based on AREDS2
AREDS2-type supplements contain vitamin C, vitamin E, zinc, copper, lutein and zeaxanthin. In intermediate AMD they reduce the risk of progression to late disease, although they do not cure existing damage. In macular atrophy–chorioretinopathy syndrome they may support retinal health in a general way, but evidence is indirect and dosing must respect smoking status and medical history.

14. Omega-3 fatty acid supplements (EPA/DHA)
Omega-3 fatty acids from oily fish are linked to better long-term eye health, although supplement trials in AMD show mixed results. Capsules may be considered if dietary intake is low, especially when there are other cardiovascular benefits, but they can interact with blood-thinning drugs and may increase bleeding risk in high doses.

15. Neuroprotective agents under investigation
Experimental intravitreal drugs and implants, such as brimonidine-based neuroprotective devices, are being studied to slow photoreceptor loss in degenerative retinal diseases. Evidence is not yet strong enough for routine use, but patients with this syndrome may be eligible for future clinical trials as research grows.

16. Systemic management of associated conditions (e.g., diabetes, hypertension)
Strict control of diabetes and blood pressure helps protect retinal blood vessels and prevents extra macular damage from diabetic macular edema or ischemia. This often involves standard systemic drugs such as metformin, ACE inhibitors or statins, prescribed by physicians rather than eye doctors. Good general health supports eye health.

17. Short-term mydriatic/cycloplegic drops for painful complications
In painful inflammatory episodes, doctors occasionally use dilating drops to rest the iris and ciliary body and reduce spasm. These drops blur near vision temporarily but improve comfort and allow better examination of the fundus. They are used short term under supervision because long-term dilation can raise intraocular pressure.

18. Antibiotic or antiviral eye medications (for intercurrent infections)
Structural abnormalities in the eye may slightly increase infection risk (for example after surgery). When surface or intraocular infections occur, targeted antibiotic or antiviral drops or injections are essential to protect the remaining vision. Rapid treatment of infections prevents catastrophic complications like endophthalmitis.

19. Systemic nutritional support and multivitamins (when malnutrition is present)
In children with poor appetite or associated syndromes, paediatricians may prescribe multivitamins or nutritional drinks to correct deficiencies in vitamins A, C, E, zinc and other nutrients important for retinal function. This is not a specific treatment for the syndrome but prevents avoidable worsening from malnutrition.

20. Clinical-trial investigational drugs (gene or cell therapies)
Emerging therapies include gene replacement for specific mutations and stem-cell–derived retinal pigment epithelium patches. These are still experimental and available only in tightly controlled clinical studies, but in future they may target structural macular atrophy more directly in selected genotypes.

---

Dietary molecular supplements

Evidence for supplements in this exact syndrome is lacking; most data come from age-related macular degeneration and general eye-health research. Always discuss supplements with a doctor, especially if you take other medicines, are pregnant, or are a smoker.

1. AREDS2-based formula (vitamin C, vitamin E, zinc, copper, lutein, zeaxanthin)
AREDS2-type supplements are designed to provide high doses of antioxidants and zinc with added lutein and zeaxanthin instead of beta-carotene. In people with intermediate AMD, they lower the risk of progression to late disease. Typical commercial products are taken as 1–2 capsules per day with meals, but exact dosing follows the product label. They may support macular pigment and antioxidant defences in other macular conditions.

2. Lutein and zeaxanthin
Lutein and zeaxanthin are carotenoids concentrated in the macula, where they filter blue light and neutralize reactive oxygen species. Supplements often provide around 10 mg lutein and 2 mg zeaxanthin daily, mirroring AREDS2, though exact products differ. They are particularly useful when diet lacks leafy greens and yellow vegetables, and may support retinal cells exposed to chronic light stress.

3. Omega-3 fatty acids (DHA/EPA) capsules
When oily-fish intake is low, omega-3 capsules (for example 500–1000 mg combined EPA/DHA daily) may help support photoreceptor membranes and have cardiovascular benefits. Observational studies link dietary omega-3 intake with lower AMD risk, although supplement trials show mixed outcomes, so these products should be used as part of a broader healthy diet, not as a stand-alone cure.

4. Vitamin D supplements
Vitamin D deficiency is common and may be associated with higher risk of several chronic diseases. Correcting low vitamin D with doses recommended by local guidelines can support immune and bone health and may indirectly benefit retinal health. Blood tests are usually done before long-term supplementation to avoid excessive levels.

5. B-complex vitamins (B6, B9, B12)
B vitamins are important for nerve function and homocysteine metabolism. Some studies suggest that good B-vitamin status may support microvascular health, although evidence in macular disease is not strong. When diet is poor or absorption is reduced, a daily B-complex tablet may be considered under medical advice.

6. Coenzyme Q10
Coenzyme Q10 is involved in mitochondrial energy production and acts as an antioxidant. It is sometimes used in neurodegenerative and vascular conditions; doses in eye-health products vary but are often 30–100 mg per day. Human data for macular atrophy are limited, so it should be seen as an optional adjunct, not a proven treatment.

7. Curcumin (turmeric extract)
Curcumin has anti-inflammatory and antioxidant properties and is being studied in several chronic inflammatory diseases. Standardized extracts are usually taken with meals and black pepper or lipid carriers to improve absorption. In eye disease, evidence is early and mostly experimental, so any use should be cautious and monitored for interactions with anticoagulants.

8. Resveratrol
Resveratrol, a polyphenol from grapes, has antioxidant and vascular effects in laboratory studies. Some supplements provide 100–250 mg daily, but robust clinical data for retinal diseases are scarce. It should not be considered essential; instead, a diet rich in fruits and vegetables gives a broader mix of helpful antioxidants.

9. Taurine
Taurine is an amino-sulfonic acid abundant in the retina and important for photoreceptor survival in animal models. Supplements are sometimes used at doses like 500–1000 mg per day, though evidence in human inherited macular diseases is limited. It should be discussed with a physician, especially in people with heart or kidney problems.

10. N-acetylcysteine (NAC)
NAC replenishes glutathione, a key intracellular antioxidant, and is sometimes explored in eye conditions with oxidative stress. Typical oral doses in general practice are 600–1200 mg per day, but in eye disease this remains experimental. Gastrointestinal upset and rare allergic reactions can occur, so medical supervision is important.

---

Immunity-booster / regenerative / stem-cell–related approaches

These options are experimental or indirect and are listed for completeness. They are not standard care for this syndrome and should only be considered in clinical trials or under specialist advice.

1. Complement-pathway modulation (pegcetacoplan, avacincaptad pegol)
Complement inhibitors such as pegcetacoplan and avacincaptad pegol modulate part of the innate immune system that may drive retinal cell loss in geographic atrophy. By dampening over-activation of complement, they can slow lesion enlargement in AMD. In macular atrophy–chorioretinopathy syndrome, any use would be experimental and off-label, only in research settings where atrophic changes resemble GA.

2. Investigational stem-cell–derived retinal pigment epithelium (RPE) patches
Clinical trials are exploring transplantation of human embryonic or induced-pluripotent stem-cell–derived RPE cells into areas of macular atrophy. The aim is to support or replace damaged RPE and photoreceptors, potentially stabilizing or improving vision. These procedures remain highly specialized and carry risks like immune rejection, proliferation problems and surgical complications.

3. Gene-replacement therapies for inherited retinal diseases
Approved gene therapies (such as those for RPE65-related disease) show that replacing faulty genes in retinal cells can slow degeneration in some conditions. For macular atrophy–chorioretinopathy syndrome, specific gene targets are still being clarified, and gene therapy remains experimental, but the principle offers hope for future personalized treatment.

4. Neuroprotective implants and slow-release agents
Slow-release intravitreal devices delivering neuroprotective molecules (for example brimonidine) are under study in degenerative retinal diseases to protect ganglion cells and photoreceptors from apoptosis. They aim to stabilize function even when the original structural defect persists. So far, these remain trial-based and are not standard for this syndrome.

5. Systemic lifestyle-based immune support
Healthy sleep, balanced diet, regular physical activity and stress management keep systemic immunity and microcirculation in better condition, which indirectly supports retinal tissue. These non-drug measures reduce inflammation burden in the body, complementing any specific eye treatment and lowering risk for other chronic diseases.

6. Participation in clinical trials for inherited retinal dystrophies
Joining carefully designed clinical trials exposes patients to cutting-edge therapies (such as cell, gene or novel drug treatments) with strict safety monitoring. While not guaranteed to help, these programs advance scientific knowledge and sometimes offer access to interventions unavailable in routine practice.

---

Possible surgeries

1. Prophylactic laser around retinal coloboma
In some patients with large chorioretinal colobomas or lattice degeneration, laser photocoagulation may be applied around the edge of the lesion to reduce the risk of retinal detachment. Small burns create chorioretinal adhesions that “spot-weld” the retina in place. This does not improve existing vision, but it may prevent sudden, devastating detachments.

2. Retinal detachment repair (scleral buckle or vitrectomy)
If a retinal detachment occurs, urgent surgery with scleral buckle, vitrectomy and intraocular tamponade (gas or oil) is needed to reattach the retina. The aim is to preserve as much remaining vision as possible. Success depends on the extent of detachment, macular involvement and underlying structural anomalies.

3. Cataract extraction with intraocular lens implantation
Children and adults with inherited retinal disease can also develop cataract, which further clouds vision. Standard phacoemulsification surgery with careful choice of intraocular lens can significantly improve brightness and clarity, even if central macula remains atrophic. Surgeons take extra care to avoid complications in eyes with colobomas or high myopia.

4. Strabismus or nystagmus surgery (in selected cases)
If the eyes are misaligned (strabismus) or nystagmus is severe, surgery on the eye muscles may improve head posture or cosmetic appearance and, in some cases, reduce oscillopsia (sense of moving images). These operations do not cure macular atrophy but can make daily activities and social interactions easier.

5. Future retinal prosthesis / macular implant surgery
Retinal prostheses and subretinal implants designed for advanced macular degeneration are being tested and have shown partial restoration of central vision in some patients. In the future, similar devices might be adapted for severe central loss from congenital macular atrophy, but at present this remains experimental and available only in specific trials.

---

Prevention and risk-reduction strategies

Because this condition is largely genetic and congenital, it cannot usually be fully prevented, but some strategies may reduce additional damage or help future generations.

1. Genetic counselling before pregnancy – helps carrier parents understand recurrence risk and options such as prenatal or pre-implantation genetic diagnosis where legally and ethically available.

2. Healthy pregnancy care – avoiding alcohol, tobacco, recreational drugs and unnecessary medications during pregnancy reduces background risk of other ocular malformations.

3. Avoiding known teratogens – strict medical supervision of any medicines with potential fetal toxicity helps protect general fetal eye development.

4. Early newborn eye screening – checking red reflex and eye alignment soon after birth allows rapid referral if abnormalities are seen, preventing late diagnosis.

5. Regular specialist follow-up for affected children – early detection of complications like glaucoma, cataract or detachment allows quicker treatment and better outcomes.

6. Lifelong UV protection – using sunglasses and hats outdoors reduces light-induced stress on already fragile macular cells.

7. Smoking avoidance and cardiovascular risk control – avoiding tobacco and controlling blood pressure and blood sugar lowers the chance of further retinal vascular damage.

8. Eye-safe environment and sports protection – impact-resistant glasses and safe play areas reduce trauma risk in structurally fragile eyes.

9. Healthy, eye-supportive diet from childhood – encouraging leafy greens, colored fruits, nuts and oily fish provides nutrients that support retinal health.

10. Prompt treatment of eye infections and inflammations – rapid care for conjunctivitis, uveitis or trauma prevents avoidable scarring on top of the congenital changes.

---

When to see a doctor

You (or a child) with macular atrophy–chorioretinopathy syndrome should see an eye doctor urgently if any of the following occur:

• Sudden drop in vision, especially if one eye becomes much worse than the other.

• New flashes of light, a shower of floaters or a curtain-like shadow, which may signal retinal detachment.

• Red, painful eye with blurred vision or light sensitivity, which could mean infection or severe inflammation.

• Rapid increase in head tilting or nystagmus, or obvious new squint in a child.

• Headaches, eye pain or halos that might indicate raised intraocular pressure.

Routine follow-up with a retina or inherited-retinal-disease specialist is also important even when symptoms seem stable.

---

Things to eat and things to avoid

What to eat (general guidance, not a strict diet plan)

1. Dark leafy greens (spinach, kale, collards) – rich in lutein and zeaxanthin that concentrate in the macula.

2. Brightly colored vegetables (carrots, sweet potatoes, peppers) – provide carotenoids and vitamin A precursors.

3. Oily fish (salmon, mackerel, sardines) twice a week – supply omega-3 fatty acids that support retinal cell membranes.

4. Citrus fruits and berries – good sources of vitamin C and other antioxidants.

5. Nuts and seeds (almonds, walnuts, sunflower seeds) – contain vitamin E and healthy fats; watch portion size to avoid excess calories.

6. Eggs – especially yolks, which naturally contain lutein and zeaxanthin.

7. Whole grains (oats, brown rice) – support stable blood sugar and vascular health.

8. Legumes (beans, lentils) – provide plant protein, fibre and micronutrients without excess saturated fat.

9. Olive oil and other healthy plant oils – fit well with a Mediterranean-style diet associated with lower AMD progression.

10. Plenty of water – good hydration supports general health and may ease dry-eye symptoms.

What to limit or avoid

1. Cigarette smoking and second-hand smoke – strongly associated with worse retinal outcomes and higher AMD risk.

2. Heavy alcohol intake – can worsen nutritional status and oxidative stress in many organs, including the eye.

3. Foods high in trans fats and saturated fats (fried fast food, processed snacks) – contribute to atherosclerosis and poor retinal blood flow.

4. High-glycaemic white bread, pastries and sugary drinks – promote glucose spikes and may harm retinal vessels over time.

5. Excessive red and processed meats – linked to cardiovascular disease; they may displace healthier protein choices like fish or legumes.

6. Highly salted snacks – worsen blood pressure control and fluid balance.

7. Very high doses of unmonitored supplements (especially vitamin E or beta-carotene in smokers) – can increase health risks instead of helping.

8. Energy drinks with excessive caffeine – may disturb sleep and increase stress, indirectly worsening coping with low vision.

9. Long-term crash diets or extreme restrictive eating – risk nutritional deficiencies that harm eye and general health.

10. Self-medicating with herbal products without medical review – some herbs interact with anticoagulants, blood-pressure or seizure medicines and may not be safe.

---

FAQs

1. Is macular atrophy–chorioretinopathy syndrome curable?
No. It is a structural genetic disorder of the optic disc, macula and choroid, so current treatments cannot “repair” the malformation. Management focuses on protecting remaining vision, preventing complications and maximizing daily function with low-vision aids and support.

2. Will vision always get worse with age?
Many patients have poor but relatively stable vision once the eyes finish developing, although additional problems like cataract or retinal detachment can occur. Regular follow-up allows early treatment of new issues, which can help maintain the best possible vision for longer.

3. Can modern macular injections help this syndrome?
Complement inhibitors and anti-VEGF injections were developed for AMD and related conditions. They might help if a person with this syndrome also develops similar complications (for example geographic atrophy-like changes or choroidal neovascularization), but this is off-label and must be decided by a retina specialist.

4. Are eye vitamins enough to treat the condition?
Eye vitamins, especially AREDS2-type formulations, can support general macular health and may be helpful if there is overlapping AMD, but they do not cure genetic structural anomalies. They should be used as an addition to, not a replacement for, professional eye care.

5. Can a child with this syndrome go to regular school?
Yes, many children attend mainstream schools successfully when they receive low-vision aids, large-print materials, seating accommodations and specialist teacher support. Good communication with the school and early planning are key to success.

6. Will glasses fix the vision problem?
Glasses can correct refractive errors such as myopia or astigmatism and may improve clarity slightly, but they cannot repair macular atrophy or coloboma. However, they are still important to give the eye the best possible focus and often act as physical protection.

7. Is the condition painful?
The congenital structural changes themselves are not usually painful. Pain tends to occur only if there is a complication like infection, inflammation, acute glaucoma or trauma, all of which need urgent care.

8. Should family members be tested?
Because inheritance is typically autosomal recessive, genetic counselling and, where available, genetic testing may be offered to siblings and parents. This helps clarify carrier status and guides future reproductive decisions.

9. Is there a risk of total blindness?
Most people keep some useful vision (for example light perception, peripheral vision or reading with magnification), but the central acuity can be very poor. The aim of treatment is to delay or avoid extra damage from complications so that useful vision is preserved as much as possible.

10. Can diet really make a difference?
Diet cannot correct the genetic structural defect, but a pattern rich in leafy greens, fruits, nuts and oily fish supports retinal health and overall circulation, and it may help reduce additional degenerative changes similar to those seen in AMD.

11. Are contact lenses recommended?
In most cases, regular spectacles are safer because they provide physical protection. Special contact lenses might be considered in some refractive situations but should be discussed with a cornea and low-vision specialist, considering infection risk and handling difficulty.

12. How often should eye checks be done?
For children, at least yearly reviews with an ophthalmologist familiar with inherited retinal disease are typical, with extra visits if any new symptoms occur. Adults may be seen yearly or every 1–2 years depending on stability and associated conditions such as glaucoma or diabetes.

13. Can screens or mobile phones worsen the disease?
Normal use of screens does not usually accelerate genetic macular atrophy, but high-contrast, high-brightness settings can cause eye strain. Using accessibility settings, taking breaks and keeping devices at a comfortable distance make screen use safer and more comfortable.

14. Will future treatments be available?
Research into complement inhibitors, gene therapy, stem-cell therapy and retinal implants is moving quickly, especially for macular diseases like geographic atrophy and AMD. People with rare syndromes may benefit from these advances in the future, making participation in registries and follow-up with specialists very valuable.

15. What is the most important message for families?
While the structural eye changes cannot currently be reversed, early low-vision support, school accommodations, healthy lifestyle and regular specialist care can make a huge difference to independence and quality of life. Families are not helpless; they have many tools to help their child or relative grow, learn and participate fully in life.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: February 10, 2025.