Choroideremia is a rare eye disease that slowly takes away sight over many years. It mainly affects boys and men because the problem gene is on the X chromosome. In this disease, three important eye layers are damaged: the retina (light-sensing layer), the retinal pigment epithelium, and the choroid (blood-vessel layer under the retina). People usually first notice trouble seeing in the dark. Later they lose side vision and, much later, central vision. Many people can become legally blind in adulthood if the disease is not treated.
Choroideremia is a rare inherited eye disease that slowly damages the light-sensitive tissue at the back of the eye (the retina), the blood layer under it (the choroid), and a support layer called the retinal pigment epithelium (RPE). Over time, this leads to night blindness, loss of side vision, and finally loss of central vision in many people. It usually affects boys and men because it is X-linked, but carrier women can have mild symptoms too. There is no simple cure today, but gene therapy and many support treatments are under study or already used to protect remaining vision and improve daily life.
This condition happens because of changes (mutations) in a gene called CHM. This gene gives instructions to make a protein called Rab escort protein-1 (REP1). REP1 helps many tiny “carrier” proteins inside cells to work properly. When REP1 is missing or not working, retinal cells slowly die over time. This cell loss causes the thinning and atrophy that doctors see when they look into the eye.
Choroideremia is inherited in an X-linked recessive way. This means the faulty gene is on the X chromosome. Males have only one X chromosome, so one bad copy is enough to cause disease. Females have two X chromosomes, so they are usually “carriers” and often have mild or no symptoms. The disease is rare, affecting about 1 in 50,000–100,000 people.
Other names
Choroideremia has several other names in medical books. Doctors may call it choroidal sclerosis, progressive choroidal atrophy, or progressive tapetochoroidal dystrophy. All these names describe the same basic idea: a long-term wasting (atrophy) of the choroid and retina that gets worse over time and leads to vision loss.
Types and clinical patterns
Doctors usually see one main genetic type of choroideremia, caused by changes in the CHM gene. However, the way it looks and behaves in the eye can differ between people and between men and carrier women. So, doctors often talk about clinical patterns or stages, rather than true separate types.
In classic male choroideremia, boys or young men develop night blindness first, then slowly lose side vision. The retina and choroid become very thin, and large pale areas appear in the back of the eye. This pattern is the most common, and the changes are usually similar in both eyes.
In female carriers, the changes are often milder and patchy. Some women have no symptoms at all. Others may have mild night problems or patchy areas of thinning in the retina when the doctor looks with special imaging. This happens because one X chromosome is turned off in some cells and not in others, leading to a “mosaic” pattern.
Doctors sometimes describe early-stage choroideremia when only subtle changes are present. At this stage, the person might only notice trouble seeing in very dim light. The central vision is still normal, and tests like electroretinography may show only mild changes.
In mid-stage disease, more of the peripheral retina and choroid are lost. Side vision narrows, and the fundus (back of the eye) shows large patches of exposed white sclera. At this point, people may struggle in low light and in unfamiliar places but can still read and do many daily tasks.
In late-stage disease, almost all the choroid and outer retina are gone, except for a small island under the fovea, the central seeing spot. Central vision then starts to fall. Some men eventually reach legal blindness, with very poor vision and almost no useful field.
Causes and genetic factors
All causes are different ways of saying “the CHM gene does not work properly.” They describe how and why this gene fails and who is at risk.
X-linked CHM gene mutation
The main cause is a mutation in the CHM gene on the X chromosome. This mutation stops the gene from making normal REP1 protein. Without REP1, the retina, retinal pigment epithelium, and choroid slowly degenerate, leading to progressive vision loss.Loss-of-function (null) variants
Many patients have “null” mutations, such as nonsense or large deletions, that completely stop REP1 production. These strong mutations often cause a more typical, severe form of choroideremia because there is almost no working protein.Nonsense mutations
Nonsense mutations insert an early “stop” signal in the gene. The protein is cut off early and cannot do its job in prenylation and intracellular transport. This faulty protein leads to early cell stress and gradual death of retinal cells.Frameshift mutations
Frameshift mutations add or remove DNA letters so that the reading frame changes. This usually makes a very abnormal protein or triggers the body to destroy the faulty message. The result is little or no useful REP1 in the eye.Splice-site mutations
Some changes occur at splice sites, which act like punctuation marks in the gene. These errors cause the cell to cut and join the gene code incorrectly, leading to missing or added pieces in the REP1 protein and loss of normal function.Large deletions of the CHM gene
In some families, all or most of the CHM gene is missing. Because the gene is gone, no REP1 is made at all. This is a clear and strong cause of choroideremia in affected males from these families.Rare missense variants
Missense mutations change just one amino acid in the REP1 protein. Some of these rare changes can still cause advanced disease, especially if they harm important functional sites in the protein.De novo (new) mutations
Occasionally, a mutation appears for the first time in a child, with no known family history. This is called a de novo mutation. The child is affected, and his future daughters may be carriers even if earlier generations seemed unaffected.Inheritance from a carrier mother
Most affected boys inherit the faulty CHM gene from a carrier mother. She usually does not have severe disease but passes the mutated X chromosome to half of her sons (who are affected) and half of her daughters (who become carriers).X-linked recessive inheritance pattern
Because choroideremia is X-linked recessive, males have a much higher risk. One mutated X chromosome is enough to cause disease in a male, while females need unfavorable X-inactivation to show strong symptoms. This pattern shapes how disease appears in families.Skewed X-inactivation in females
Female carriers normally inactivate one of their two X chromosomes at random in each cell. If more cells inactivate the healthy X, the faulty CHM gene becomes more active, and the woman may develop noticeable retinal changes and mild symptoms.Structural rearrangements near CHM
Rarely, chromosomal rearrangements such as translocations or complex structural changes can disrupt the CHM gene or its control regions. Even if the coding sequence looks normal, these rearrangements can reduce REP1 expression and cause disease.Genetic modifiers in other genes
Other genes linked to retinal health may act as modifiers. They do not cause choroideremia on their own but may speed up or slow down degeneration when combined with a CHM mutation, which helps explain why severity varies between families.Consanguinity (marriage of close relatives)
In some populations, marriages between close relatives are more common. This can increase the chance that a rare X-linked mutation like CHM is passed down through a family, leading to several affected males and female carriers in the same family tree.Family history of X-linked retinal dystrophy
A clear family history of night blindness and male-only severe vision loss is an important clue. This pattern suggests an underlying CHM mutation, even before genetic testing confirms the exact change.Lack of functional REP1 in retinal cells
The final common cause at the cell level is simply the absence of working REP1. Without REP1, certain Rab proteins are not prenylated and cannot move cargo correctly inside retinal cells. Over time, this transport failure injures and kills the cells.Progressive oxidative and metabolic stress
As REP1-deficient cells struggle, they build up waste products and reactive molecules. This chronic stress slowly damages the retina and choroid even more. It is not a separate cause but a direct result of the gene mutation.Carrier state in females
The carrier state itself is a genetic factor. While many carriers are symptom-free, some develop characteristic fundus changes and may have mild vision problems. This state shows that having one faulty copy can still affect the eye in some women.Multiple different CHM variants in the same registry
Studies of inherited retinal disease registries show hundreds of different CHM variants. This wide variety of changes proves that many distinct mutations in the same gene can cause the same disease pattern.Unidentified or complex CHM mutations
In a small number of patients, the exact mutation is not found at first with standard tests. Later, more advanced sequencing may reveal deep intronic or complex changes. Even though not obvious, these rare variants still act as the root cause by disturbing CHM function.
Symptoms and signs
Night blindness (nyctalopia)
The earliest and most common symptom is trouble seeing in the dark. Children or teenagers may be slow to adapt when lights are turned off or when moving from a bright room to a dim one. Parents may notice that the child avoids dark places.Difficulty in low-light places
People often struggle in dim restaurants, movie theaters, or on dark streets. They need more light than others to see faces or read signs. This makes evening activities and night travel hard and sometimes unsafe.Loss of peripheral (side) vision
As the disease progresses, the outer retina is damaged first. This causes loss of side vision, so people may not notice objects coming from the sides. They may bump into furniture, door frames, or other people in crowded places.“Tunnel vision”
Over time, the area of seeing can shrink into a small central “tube.” People describe this as looking through a tunnel. They can still see what is straight ahead but miss things above, below, and to the sides.Slowly reduced central visual acuity
Central vision often stays good for many years, but later it also declines. Reading small print, recognizing faces, and doing fine close work become difficult. This loss of detail vision can have a big impact on education and work.Trouble reading and near work
Because of both central vision changes and poor contrast, reading can become tiring. People may need brighter lights, larger print, or magnifiers. They might also lose their place on the page more easily because of narrow fields.Poor dark adaptation after bright light
After being in bright sunlight, it can take much longer than normal for eyes to adjust to lower light. This slow dark adaptation makes moving between different lighting levels uncomfortable and disorienting.Reduced contrast sensitivity
Objects may seem washed out, especially if they do not stand out strongly from the background. For example, light-gray text on a white page may be very hard to see. This makes daily tasks like reading signs and spotting steps harder.Problems with color vision (later stages)
Color vision is often normal in early disease but may worsen as more retinal cells die. Colors can look less bright or harder to tell apart, especially in low light. This change usually appears after other symptoms.Difficulty moving around in unfamiliar places
Because of side-vision loss and poor night vision, people may feel unsure in new or crowded environments. They may walk more slowly, scan the area more, or avoid unfamiliar places, especially at night.Increased risk of falls and bumps
Narrow fields and poor dark vision increase the chance of tripping or colliding with objects. This can lead to bruises and injuries, especially in older adults. Careful home safety planning is important.Glare and light sensitivity in some patients
Some people report that bright lights are uncomfortable or that glare makes it hard to see. This may be due to changes in the retina and loss of normal protective pigment. Sunglasses and hats can sometimes help.Headaches or eye strain
Straining to see in poor lighting or trying to scan with a narrow field can cause fatigue and headaches. These are not primary eye symptoms but are common because people work harder to see.Mild visual changes in carrier females
Some carrier females notice mild night difficulties or subtle vision problems. Eye doctors may see a patchy pattern of pigment and atrophy in the fundus, even when the woman’s vision is mostly normal.Emotional and social impact
Long-term vision loss can lead to worry, sadness, or social withdrawal. People may fear losing independence. Counseling, support groups, and low-vision services can help them adjust and stay active.
Diagnostic tests
Doctors use several groups of tests to diagnose choroideremia, check how far it has gone, and guide genetic counseling.
Physical exam and clinical tests
Detailed medical and family history with eye exam
The doctor asks about night blindness, vision changes, and relatives with similar problems, especially males. Then they examine the eyes with lights and lenses. A strong pattern of male-only severe disease plus typical fundus changes strongly suggests choroideremia.Visual acuity test (eye-chart test)
The patient reads letters on a chart at distance and near. This shows how sharp central vision is. In early choroideremia, acuity may be normal. Later, the numbers decline as central retinal cells are lost.Color vision testing
Special color plates or computer tests check how well the person sees different colors. Many people with early disease do well, but color vision may drop in advanced stages, helping to track progression along with other tests.Slit-lamp and dilated fundus examination
After dilating the pupils, the doctor uses a slit-lamp and lenses to look at the retina and choroid. They may see areas of choroidal and RPE atrophy with visible large blood vessels and patches of bare white sclera, which are classic signs.
Manual and functional visual field tests
Confrontation visual field testing
At the clinic, the doctor asks the patient to look at a central point and report when they see fingers or small targets from the sides. This quick test can show obvious loss of side vision and helps decide if more detailed field testing is needed.Automated visual field testing (e.g., Humphrey)
The patient looks into a dome and presses a button when lights appear. The machine maps where the person sees or misses spots. In choroideremia, this often shows ring scotomas and progressive narrowing of the field over time.Kinetic perimetry (Goldmann visual field)
In kinetic perimetry, moving lights of different sizes are used. This test is helpful in advanced disease and research because it can show the shape and size of remaining islands of vision more clearly than some automated tests.Dark adaptation testing
Dark adaptometry measures how quickly the eye recovers sensitivity after a bright light. People with choroideremia often have delayed dark adaptation, matching their complaints of poor night vision and slow adjustment in low light.Amsler grid test for central vision
An Amsler grid is a simple square grid on paper or screen. The patient looks at the center dot and reports missing or distorted lines. This helps detect central changes in later stages when the disease begins to affect the fovea.
Laboratory and pathological / genetic tests
Molecular genetic testing for CHM mutations
DNA from blood or saliva is tested to look for mutations in the CHM gene. Finding a clearly harmful mutation confirms the diagnosis, guides family counseling, and may qualify patients for gene therapy or clinical trials.Targeted inherited retinal disease gene panel
Many labs use panels that test dozens or hundreds of retinal disease genes at once. CHM is one of the genes on these panels. This approach helps distinguish choroideremia from other conditions, such as retinitis pigmentosa, that can look similar.Carrier testing in female relatives
Female relatives of an affected male can have genetic testing to see if they carry the CHM mutation. This helps them understand their own risk of mild eye changes and their chance of having affected children.Prenatal or preimplantation genetic diagnosis
In families with a known CHM mutation, genetic testing can be offered during pregnancy or with in-vitro fertilization. This allows parents to know if a fetus or embryo is affected or a carrier and to make informed choices.Immunoblot / Western blot for REP1 protein
In rare cases where the DNA result is unclear, a blood-cell test can measure REP1 protein levels. If REP1 is missing or much reduced, this supports the diagnosis of choroideremia even when the mutation is hard to find.
Electrodiagnostic tests
Full-field electroretinography (ERG)
ERG measures the electrical response of the retina to flashes of light. In choroideremia, rod responses are reduced early, matching the night vision problem. Later, cone responses also decline as more retinal cells are lost.Multifocal ERG
Multifocal ERG tests function in many small retinal areas at once. It can show which central zones are still working and help follow subtle changes over time, which is useful in research and gene therapy trials.Visual evoked potentials (VEP)
VEP records electrical signals from the visual cortex in the brain after visual stimulation. It is not specific for choroideremia but can help rule out optic nerve or brain problems and confirm that reduced signals are mainly from retinal disease.
Imaging tests
Color fundus photography
Standard fundus photos take detailed color images of the back of the eye. In choroideremia, they show large pale areas of choroidal and RPE loss and islands of preserved tissue. These images help document disease and show progression over years.Fundus autofluorescence (FAF)
FAF imaging shows natural glow from retinal pigment. In choroideremia, bright and dark patterns reflect where RPE is still present or lost. FAF is very useful to measure how fast the disease spreads and is widely used as an outcome measure in studies.Optical coherence tomography (OCT)
OCT uses light waves to make cross-section pictures of the retina. It can show thinning of layers, loss of photoreceptors, and the remaining central island of tissue. OCT is painless and is one of the key tools for diagnosis and for monitoring treatment effects in clinical trials.
Non-pharmacological treatments (therapies and others)
1. Low-vision rehabilitation programs
Low-vision rehabilitation is a structured program with eye-care specialists, optometrists, and therapists. They teach you how to use the vision you still have in the best possible way, using special tools and new strategies for reading, working, and self-care. These programs can include training on magnifiers, lighting, contrast, and task planning. The main goal is not to cure the disease but to keep independence, reduce frustration, and improve quality of life even as vision slowly changes.
2. Optical magnifiers and telescopes
Hand-held magnifiers, stand magnifiers, high-power reading glasses, and small telescopes can make print, faces, and distant signs larger and easier to see. These tools are chosen after a low-vision exam and are adjusted to the person’s eye measurements and daily needs. Magnifiers can help people with choroideremia continue reading books, schoolwork, labels, and phone screens for longer. The purpose is to enlarge images, not to fix the retina, so they are used along with regular eye checks and other rehabilitation measures.
3. Electronic magnification devices
Electronic devices, such as closed-circuit televisions (CCTVs), desktop video magnifiers, and tablet or phone apps, can zoom text and pictures and change contrast and color. People can choose big fonts, high contrast (like white letters on black), and bright screens that match their comfort. These tools often allow longer reading time than simple glasses because they reduce strain. The goal is to use technology to make everyday tasks—reading, writing, banking, school, and office work—possible even with advanced visual field loss.
4. Screen readers and speech output software
When vision becomes too poor for reading even large print, screen readers can read out loud what is on the computer or phone screen. Examples include built-in accessibility tools on smartphones and laptops. They allow people with choroideremia to send messages, browse the internet, study, and work despite very low vision. The purpose is to shift from visual reading to audio information so that loss of central vision does not stop education or employment.
5. Orientation and mobility (O&M) training
O&M training teaches safe walking and travel skills for people with low vision. Trained specialists help patients learn how to use their remaining peripheral or central vision, hearing, and touch to move around safely indoors and outdoors. This may include learning to use a white cane, cross streets, use public transport, and navigate unfamiliar places. For choroideremia, where side vision is often lost, O&M reduces falls, accidents, and fear of going out alone.
6. Home and workplace environmental adaptations
Simple changes in the home or office can make a big difference. This includes removing trip hazards, adding handrails, marking steps, using contrasting colors on edges, and decluttering pathways. In the workplace, better lighting, larger monitors, and flexible seating help people continue their job. These changes aim to make spaces safer and easier to navigate, lowering the risk of injuries and helping people stay independent for longer.
7. Lighting optimization and glare control
People with choroideremia often struggle with dim light or glare. Adjusting lighting—using brighter but diffused lamps, task lights for reading, and avoiding direct glare from windows—can help a lot. Wearing hats with brims and using tinted lenses can cut down glare outside. The purpose is to maximize comfortable vision under different lighting conditions and reduce eye strain, headaches, and fatigue during daily tasks.
8. High-contrast and large-print materials
Using black text on white or yellow backgrounds, bold fonts, and large print makes reading easier when contrast sensitivity is reduced. Large-print books, school materials, medicine labels, and financial documents can all be prepared this way. Labeling items at home with large, bold letters (for example, on spice jars or cleaning bottles) decreases mistakes and accidents. The goal is to make objects and text stand out clearly from their background so less visual effort is needed.
9. Occupational therapy for daily living skills
Occupational therapists teach practical methods for cooking, cleaning, dressing, and self-care when vision is poor. They may suggest adaptive tools like talking scales, high-contrast cutting boards, and tactile markings on appliances. The purpose is to keep daily life as independent and safe as possible, and to reduce the need for constant help from others. For many patients, this also improves mood and confidence.
10. Psychological counseling and support groups
Progressive vision loss can cause anxiety, sadness, and fear about the future. Talking with psychologists or counselors trained in vision-related issues can help people cope. Peer support groups, especially for rare diseases like choroideremia, give a safe place to share experiences and learn from others. The main purpose is emotional support and building coping skills so that mental health is protected alongside eye health.
11. Genetic counseling for patients and families
Because choroideremia is inherited, genetic counseling is important for understanding how the condition passes through families. Counselors explain X-linked inheritance, carrier status in women, and options for family planning and testing. The purpose is to give clear information, reduce confusion and guilt, and support informed decisions about having children and screening relatives.
12. Educational accommodations for students
Children and young adults with choroideremia often need special help in school: sitting at the front of the class, enlarged print, digital materials, extra time in exams, and note-taking support. Teachers and school counselors can work with low-vision specialists to design an individual education plan. The goal is to ensure that vision loss does not block good education and future career choices.
13. Vocational rehabilitation for adults
Vocational rehabilitation services help adults with low vision keep their job or retrain for new kinds of work that match their visual abilities. This may include workplace modifications, adaptive technology, and training on how to use new tools. The purpose is financial and social independence—helping people remain part of the workforce rather than leaving work early due to sight loss.
14. Regular low-vision and retina follow-up visits
Routine visits with a retina specialist and low-vision team are vital. Doctors monitor disease progression, check for treatable complications (such as cataract or retinal detachment), and update glasses or low-vision aids. Early detection of complications allows timely surgery or other treatment, which can preserve remaining sight. Follow-up also gives repeated chances to adjust rehabilitation plans as vision changes.
15. UV-blocking sunglasses and eye protection
People with choroideremia are often advised to wear sunglasses that block ultraviolet (UV) light when outside. UV-blocking lenses may reduce discomfort from bright light and possibly protect remaining retinal cells from additional light-related stress. Protective eyewear also shields the eyes from physical injury during sports or work. This is a simple daily habit that can support long-term eye comfort and safety.
16. Fall-prevention and balance training
Because side vision is lost, it is easy to bump into objects or miss steps, which increases the risk of falls. Balance and mobility exercises, sometimes with physiotherapists, teach safe ways to move, turn, and climb stairs. Combined with home safety changes, they lower the chance of fractures and head injuries, especially in older adults. This keeps people active and reduces hospital visits.
17. Use of tactile and audio labeling
Tactile markers (raised stickers, bump dots, textured tape) and audio labels can mark important items like stove controls, medicines, and remote controls. People can identify objects by touch or by playing a recorded message. This reduces mistakes, such as taking the wrong medicine. The aim is to replace visual information with touch and sound so that daily tasks remain safe and efficient as vision declines.
18. Access to patient registries and research programs
Patient registries for inherited retinal diseases collect medical and genetic data to match people with suitable clinical trials, especially for gene therapy studies. Joining a registry may offer access to cutting-edge treatments and gives researchers valuable information. For choroideremia, this is especially important because new gene therapies are actively being tested.
19. Healthy lifestyle and exercise programs
Regular physical activity, good sleep, and stress management do not cure choroideremia, but they support overall health and mental strength. Exercise can improve balance, mood, and cardiovascular health, which helps people handle the challenges of living with low vision. Structured programs, such as walking groups or adapted sports, also reduce social isolation.
20. Family and caregiver education
Teaching family members about what the person can and cannot see is very important. When relatives understand the condition, they can adjust how they communicate, offer the right amount of help, and avoid unsafe behaviors like rearranging furniture unexpectedly. Educated caregivers can also encourage regular checkups and rehabilitation, which improves long-term outcomes.
Drug treatments related to choroideremia
Today, there is no FDA-approved drug that directly cures or stops choroideremia itself. Most medicines are used to treat complications (such as abnormal blood vessels or swelling in the retina) or to manage other eye conditions that occur along the way. Many are off-label in this disease. All injections into the eye must be done only by a retina specialist.
Below are key drug groups, with information based on FDA prescribing labels for these products.
I will describe 10 important medicines/groups used for complications:
1. Ranibizumab (Lucentis)
Ranibizumab is an anti-VEGF (vascular endothelial growth factor) injection for diseases with abnormal leaking vessels in the retina, like neovascular age-related macular degeneration and macular edema. It is given as a small injection into the eye, usually monthly at first, by an eye surgeon. The drug blocks VEGF, a signal that causes weak new blood vessels to grow and leak. In choroideremia, it may be used off-label if similar new vessels appear, to reduce swelling and protect central vision. Common side effects include eye pain, floaters, and small bleeding on the eye surface.
2. Aflibercept (Eylea, Eylea HD)
Aflibercept is another anti-VEGF drug given by intravitreal injection. It binds VEGF and related growth factors to stop abnormal vessel growth and leakage. Typical dosing starts with monthly injections, then often every two months, as per the FDA label. For choroideremia complications like choroidal neovascularization, doctors may use aflibercept off-label to reduce fluid and preserve remaining central vision. Side effects can include eye pain, increased eye pressure, floaters, and rare serious infections inside the eye.
3. Ranibizumab-nuna (Byooviz)
Byooviz is a biosimilar version of ranibizumab with similar structure, mechanism, and clinical effects. It is used for the same approved indications as Lucentis and is delivered as intravitreal injections by eye specialists. In practice, a retina doctor may choose a biosimilar for cost or access reasons when treating VEGF-driven retinal disease. For patients with choroideremia-related neovascular complications, it can be used in a similar way as Lucentis, following the label dosing schedule, though this is still off-label. Side effects are similar to those of other ranibizumab products.
4. Ranibizumab ocular implant (Susvimo)
Susvimo is a small surgical implant filled with ranibizumab that is placed in the eye wall and slowly releases the drug over time. It is indicated for certain patients with diseases like diabetic macular edema who have already responded to anti-VEGF injections. The device is refilled in clinic at intervals set in the label. While not designed specifically for choroideremia, the principle is to provide steady VEGF inhibition with fewer injections. Side effects include risk of implant-related complications, infection, and eye irritation.
5. Aflibercept biosimilars (Yesafili, Enzeevu and others)
Biosimilar aflibercept products provide alternatives to originator Eylea. They share the same core mechanism—binding VEGF to reduce abnormal new vessel formation and retinal leakage. They are injected into the eye at intervals similar to Eylea, according to their FDA labels. For retinal conditions that behave like other VEGF-driven diseases, including some complications in inherited retinal dystrophies, these biosimilars may be used under specialist guidance. Possible side effects include inflammation, increased eye pressure, floaters, and very rare retinal detachment or infection.
6. Ziv-aflibercept (Zaltrap)
Ziv-aflibercept is a systemic (intravenous) anti-VEGF drug used mainly in cancer treatment, not directly in the eye. It is mentioned here only because it shares the same VEGF-blocking principle. In routine care of choroideremia, it is not used as an eye treatment but may appear in medical history if the person is treated for certain cancers. The mechanism is systemic VEGF inhibition to stop blood vessel growth in tumors. It has a wide side-effect profile, including high blood pressure and bleeding risks, so it is strictly used under oncology supervision.
7. Intravitreal corticosteroids (for macular edema)
In some inherited retinal diseases, cystoid macular edema (swelling in the central retina) can appear. Eye doctors may use steroid injections or implants, such as triamcinolone or dexamethasone implants, to reduce inflammation and fluid. These drugs reduce inflammatory signals and stabilize the blood-retina barrier. They are not specific to choroideremia but may be considered if swelling is present. Side effects can include cataract progression and high eye pressure, so careful monitoring is essential.
8. Topical and peri-operative antibiotics
Whenever intravitreal injections or eye surgery are done, doctors use antibiotic drops or antiseptic solutions to reduce infection risk. These medicines do not treat the retinal disease itself but protect the eye during invasive procedures. Common options include fluoroquinolone drops used for a short time around the procedure. The purpose is to prevent endophthalmitis, a serious infection inside the eye.
9. Post-operative anti-inflammatory eye drops
After cataract surgery or retinal procedures in patients with choroideremia, doctors often prescribe anti-inflammatory eye drops (steroids and/or non-steroidal drops). These reduce pain, redness, and internal eye inflammation. Good inflammation control helps the eye heal and protects fragile retinal tissue after surgery. Side effects may include temporary increased eye pressure or irritation, so follow-up visits are important.
10. Systemic analgesics (pain-relief medicines)
After procedures such as intravitreal injections or surgery, simple pain medicines like acetaminophen may be used. They are not specific to choroideremia and do not affect vision loss, but they improve comfort so patients can sleep and function better after treatment. These should always be used at recommended doses and checked for interactions with other health problems.
Important: All medicines must be chosen and dosed by a qualified eye specialist or physician. Patients should never try to inject or change doses on their own.
Dietary molecular supplements
Right now, there is no proven supplement that stops choroideremia, but general retinal-friendly nutrition is often suggested as supportive care.
1. Omega-3 fatty acids (DHA and EPA)
Omega-3 fats from fish oil and algae are important components of photoreceptor cell membranes. A diet rich in fatty fish or omega-3 supplements may support retinal structure and function. Some experts suggest regular intake of DHA as part of a healthy diet for inherited retinal disease, though it is not a cure. Dose and safety should be discussed with a doctor, especially if the person takes blood thinners.
2. Lutein
Lutein is a carotenoid concentrated in the macula (central retina). It acts as a natural filter for blue light and as an antioxidant. Supplements or lutein-rich foods (like spinach and kale) may help reduce oxidative stress in retinal cells. Usual supplement doses are often around 10 mg/day in commercial products, but the exact benefit in choroideremia is still under study.
3. Zeaxanthin
Zeaxanthin, a partner carotenoid of lutein, also accumulates in the macula. It helps absorb blue light and neutralize free radicals that can damage cells. It is found in foods like corn and orange peppers and in mixed macular pigment supplements. Typical supplement doses are similar to lutein, and products often combine them. Evidence is strongest in macular degeneration, but the same biological principles may support other retinal tissues.
4. Vitamin A (with caution)
Vitamin A is essential for the visual cycle and photoreceptor function. However, in some inherited retinal diseases, high doses can be risky or not recommended. For choroideremia, routine high-dose vitamin A is not standard care; any supplementation should be limited to normal dietary amounts unless an expert specifically advises otherwise. Too much vitamin A can damage the liver and bones.
5. Vitamin C
Vitamin C is a water-soluble antioxidant that helps protect cells from oxidative stress. It is present in fruits like oranges, berries, and guava. Normal dietary intake is generally safe and supports general health and immunity. While it does not directly treat choroideremia, maintaining sufficient vitamin C can be part of a balanced antioxidant strategy for the whole body, including the eye.
6. Vitamin E
Vitamin E is a fat-soluble antioxidant present in nuts, seeds, and vegetable oils. It protects cell membranes from oxidative damage. In some retinal conditions, combinations of vitamins (including E) have been studied for slowing degeneration, though evidence is mixed. Supplement doses must be managed carefully, since very high doses may increase bleeding risk. Always seek medical advice before starting high-dose vitamin E.
7. Zinc
Zinc is a trace mineral involved in many enzyme systems in the retina. It helps with antioxidant defenses and vitamin A metabolism. Some eye health supplements include zinc, based on macular degeneration research. Normal dietary intake from foods like beans, seeds, and meat is usually adequate. Because excessive zinc can cause side effects like stomach upset or copper deficiency, any supplement use should follow medical advice.
8. Selenium
Selenium is another trace element that is part of antioxidant enzymes such as glutathione peroxidase. It helps reduce oxidative stress in many tissues, including the retina. Low doses in multivitamins or from foods (like Brazil nuts and seafood) are generally enough. There is no specific trial proving selenium benefit in choroideremia, but maintaining normal levels supports overall health and immune function.
9. Coenzyme Q10 (CoQ10)
CoQ10 is involved in mitochondrial energy production and also has antioxidant properties. Some small studies in neuro-degenerative and retinal conditions have explored its role. In theory, it may help protect cells from energy failure and oxidative damage, but strong evidence in choroideremia is lacking. Typical supplement doses vary, and interactions with other drugs (like blood thinners) must be checked with a doctor.
10. General multivitamin with balanced micronutrients
For many patients, a simple balanced multivitamin that meets daily requirements of vitamins and minerals is enough. It helps cover small dietary gaps and supports general health, immune function, and healing after surgery or infections. It should not be seen as a treatment for choroideremia itself. Excessive or unbalanced supplement use should be avoided; “more” is not always “better,” especially with fat-soluble vitamins and minerals.
Regenerative / immunity-supporting and experimental therapies
These are not routine treatments and should only be discussed with retinal specialists and research teams.
1. AAV2-REP1 gene therapy (experimental)
Gene therapy for choroideremia uses a harmless viral vector (AAV2) to carry a healthy CHM gene (encoding REP1) into retinal cells. In clinical trials, a small amount of vector is injected under the retina during surgery. Some studies show improved or stabilized vision, while others show mixed results and complications like retinal stretching and inflammation. Dosing is strictly fixed by trial protocols and is not available for self-use. This is currently the most promising disease-modifying approach.
2. Other viral vector gene-supplementation strategies
Researchers are exploring other viral vectors and dosing strategies to improve safety and durability of CHM gene delivery. These approaches try to optimize how much gene package reaches the correct retinal cells without causing immune reactions or toxicity. At this time, they remain in early-phase trials and animal studies, with all dosing controlled by research teams, not by patients or ordinary clinicians.
3. Stem-cell–based retinal support (research stage)
Some laboratories are studying retinal pigment epithelium (RPE) or photoreceptor cells grown from stem cells and transplanted into eyes with retinal degeneration. The idea is to replace or support damaged layers. In choroideremia, this could theoretically help once underlying gene issues are managed, but it is still experimental. Doses (cell numbers) and methods differ between trials, and there is no approved standard care yet.
4. Neuroprotective and antioxidant drug candidates
Various systemic or local drugs that protect nerve cells from damage are being studied in inherited retinal dystrophies. These may include small molecules that boost mitochondrial function or reduce oxidative stress. For choroideremia, such compounds are mostly in preclinical or early clinical stages. Doses are set in trials; these are not over-the-counter eye medicines. Patients should see clinical trial centers for information.
5. Vaccinations and general immune support
Routine vaccines (such as influenza and COVID-19 vaccines) do not treat choroideremia, but they protect overall health and reduce the risk of serious infections that could delay eye surgery or clinical trial visits. Staying up to date with vaccines and managing chronic illnesses like diabetes supports the body’s healing ability and general immunity. Dose and schedule follow national vaccination guidelines, not eye-disease-specific protocols.
6. Healthy-lifestyle-based immune support
Good sleep, regular exercise, balanced diet, and stress control help the immune system work properly. They also reduce systemic inflammation, which can affect blood vessels and healing. While these are not “drugs,” they function as natural boosters for the body’s repair systems. Doctors often recommend them as a foundation for any chronic disease management plan, including choroideremia.
Surgical options
1. Retinal detachment repair
If the retina pulls away from the back of the eye, urgent surgery is needed. Techniques like vitrectomy, gas or oil tamponade, and laser or freezing treatment are used to reattach it. In choroideremia, the retina is thin and fragile, so surgery is challenging but can save remaining vision if done early. The surgery is done in an operating room under local or general anesthesia.
2. Cataract surgery
Cataracts (clouding of the lens) are common in people with inherited retinal dystrophies. Removing the cloudy lens and replacing it with a clear artificial lens can improve brightness and focus. It does not fix the damaged retina but can make the remaining vision clearer. Careful pre-surgery counseling is important so patients understand what improvement to expect.
3. Subretinal gene-therapy surgery
For gene therapy trials, surgeons perform a vitrectomy and inject the gene vector under the retina, creating a small bubble (bleb). The aim is to deliver the treatment directly to affected cells. This surgery carries risks like retinal tears, detachment, and inflammation, so it is done only in specialized centers with strict protocols and follow-up.
4. Surgery for macular holes or epiretinal membranes
If scar tissue on the retinal surface or macular holes form, surgery may be offered to remove the membrane or close the hole. This may stabilize or modestly improve central vision. In choroideremia, surgeons must weigh risks and benefits carefully because underlying tissue is already weakened.
5. Implantation of drug delivery devices (e.g., Susvimo)
For some retinal diseases, a small drug reservoir implant is placed in the eye wall to deliver anti-VEGF over months. Though not specifically approved for choroideremia, similar techniques might be considered in selected patients with overlapping conditions under specialist care. Surgery includes placing the device and later refilling it in clinic.
Prevention and risk reduction
Genetic counseling and informed family planning – Helps families understand X-linked inheritance, identify carriers, and make informed reproductive choices, which can prevent transmission to future generations.
Early diagnosis and regular monitoring – Detecting choroideremia early allows timely low-vision rehabilitation, safety adaptations, and earlier entry into clinical trials when suitable.
Protection from UV and bright light – Wearing UV-blocking sunglasses and hats may reduce additional light damage and discomfort, supporting long-term retinal health.
Avoiding smoking – Smoking can harm blood vessels and increase oxidative stress. Not smoking supports better eye and cardiovascular health.
Managing systemic diseases (like diabetes and hypertension) – Good control of these conditions protects blood vessels in the eye and reduces the risk of extra retinal damage.
Healthy diet rich in fruits, vegetables, and omega-3 fats – Supports general and eye-specific nutrition, including antioxidants and essential fatty acids for retinal cells.
Fall-prevention measures at home and work – Reducing clutter, marking steps, and using mobility aids prevents injuries that can worsen disability.
Vaccinations up to date – Preventing serious infections reduces hospital stays and protects opportunities for eye surgery or trial participation.
Regular low-vision rehabilitation reviews – As vision changes, new devices and strategies may be needed; regular reviews keep care up to date.
Mental-health support – Early counseling and peer support reduce the risk of depression and help people stick with long-term care plans.
When to see a doctor
People with known choroideremia or a strong family history should see an eye doctor (preferably a retina specialist) regularly, even if they feel stable. It is important to seek urgent care if there is sudden worsening of vision, new flashes of light, a curtain-like shadow, severe eye pain, or redness after injections or surgery. These can signal retinal detachment or infection, which need fast treatment. Anyone who notices night blindness or side-vision loss and has relatives with choroideremia should ask for a detailed eye exam and genetic testing if available.
What to eat and what to avoid
Eat: Oily fish (like salmon or sardines) 1–2 times per week for omega-3 fats, unless your doctor says otherwise.
Eat: Dark green leafy vegetables (spinach, kale) for lutein, zeaxanthin, and other antioxidants.
Eat: Colorful fruits and vegetables (berries, oranges, carrots, peppers) for vitamins C, A (in safe amounts), and many plant antioxidants.
Eat: Nuts and seeds (almonds, sunflower seeds, flaxseed) in moderate portions for vitamin E and healthy fats.
Eat: Whole grains and legumes for stable energy and minerals like zinc and selenium.
Avoid or limit: Smoking and second-hand smoke, which damage blood vessels and increase oxidative stress.
Avoid or limit: Very high sugar diets and sugary drinks that worsen diabetes and vascular problems.
Avoid or limit: Excessive alcohol, which can harm general health and nutrient balance.
Avoid: High-dose supplements (especially vitamin A, E, or zinc) without medical advice, because overdosing can be harmful.
Aim for: A consistent, balanced eating pattern rather than quick, extreme diets; steady nutrition supports long-term eye and body health.
FAQs about Choroideremia
1. Is there a cure for choroideremia right now?
No, there is no complete cure yet. However, gene therapy trials are in progress and have shown early signs of benefit in some patients, and many supportive treatments can protect function and quality of life.
2. Does every person with choroideremia go completely blind?
Many affected men eventually lose most useful vision, but the speed and final level of vision can vary widely. Some retain limited central vision late in life. Good low-vision care helps people use whatever sight remains for as long as possible.
3. Can women get choroideremia?
Yes. Women who carry the faulty gene can have mild to moderate symptoms, such as patchy retinal changes and some night or side-vision problems. They usually lose vision more slowly than males, but still need regular eye checks.
4. Is choroideremia painful?
The disease itself is not usually painful. Most people notice night blindness and shrinking side vision rather than pain. Pain can occur only if there is another problem, such as infection, inflammation, or glaucoma, which needs urgent care.
5. Can glasses or contact lenses fix choroideremia?
Glasses and contacts can correct refractive errors (like nearsightedness), but they cannot repair damaged retinal cells. However, good optical correction can make the best use of any remaining vision and should not be ignored.
6. Is gene therapy available for everyone with choroideremia?
At present, gene therapy is available only in research trials or a few specialized programs. Each study has strict rules about age, gene type, and disease stage. People must be referred to trial centers and carefully evaluated for eligibility.
7. Will diet alone stop my vision from getting worse?
No diet can stop the genetic process of choroideremia. But a balanced diet supports general health, blood vessels, and immune function, which can help the body handle surgeries or infections better and may protect overall eye health.
8. Should I take special eye vitamins for choroideremia?
There is no single proven “choroideremia vitamin.” Some doctors may suggest general eye-health supplements with antioxidants and omega-3s, but they should not replace healthy food. Always ask your doctor before starting any supplement, especially at high doses.
9. Can children be tested for choroideremia?
Yes. Children at risk can have detailed eye exams and, where available, genetic testing to confirm the diagnosis. Early detection allows timely support at school and early low-vision care if needed.
10. Is it safe to play sports if I have choroideremia?
Many people can still enjoy non-contact or adapted sports, especially with good orientation and mobility training. Protective eyewear and careful choice of activities reduce injury risk. Your doctor or low-vision team can guide safe options for your stage of vision.
11. How often should I see the eye doctor?
This depends on your age, disease stage, and any complications. Many experts suggest at least yearly visits, and more often if there are active issues or after surgery or injections. Your doctor will set a personalized schedule.
12. Can I drive if I have choroideremia?
Driving depends on vision standards in your country and your actual visual field and acuity. Many people with early disease may meet standards for a time, but as peripheral vision worsens, driving usually becomes unsafe and illegal. Eye doctors can test and advise you about this.
13. Are there international support organizations?
Yes. Groups focused on inherited retinal diseases and choroideremia provide information, support, and links to research, including patient registries and trial updates. Your doctor or low-vision rehab team can help you find trusted organizations.
14. Does stress make choroideremia worse?
Stress does not directly change the gene mutation, but it can worsen sleep, diet, and overall health. High stress can also make it harder to cope with vision loss. Relaxation techniques, counseling, and social support may improve quality of life and help you manage symptoms better.
15. What is the most important thing I can do right now?
The most important steps are: get a full evaluation with a retina specialist, ask about genetic testing and counseling, start low-vision rehabilitation early, protect your eyes from injury and UV, and keep your body as healthy as possible with good lifestyle and regular medical care. Staying informed about clinical trials through registries and trusted organizations also keeps future options open.
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 14, 2026.
