CURE ADOA FOUNDATION
Everything about ADOA-plus
What is ADOA-plus?
Autosomal dominant optic atrophy (ADOA) is a very rare inherited eye disorder. This is caused by damage to the optic nerve. Some people experience few symptoms. Most people experience progressive vision loss. Others become almost completely blind. With ADOA-plus, there are also symptoms in other parts of the body.
ADOA is rare. In the Netherlands, approximately 1 in 30.000 people develop it, which is about 600 people. Because there is no complete overview of all patients, this remains an estimate.
Approximately 1 in 5 people with ADOA receive ADOA-plus. In the Netherlands, at least 65 adults with ADOA-plus are known. The prevalence of ADOA-plus in children is unknown.
What are the characteristics?
In addition to eye problems, people with ADOA-plus may also experience:
Problems of the brain, nerves, and muscles (neurological problems):
- Hearing loss or deafness: usually in both ears (damage to the auditory nerve)
- Problems with balance
- Muscle weakness, especially in the upper legs and arms
- Muscle pain or muscle cramps
- More difficulty moving and controlling your movements (ataxia)
- Tingling, reduced sensation, or pain due to nerve damage (sensory neuropathy)
- High muscle tension (spasticity)
- Epilepsy
Other complaints:
- Severe and persistent fatigue
- Problems with thinking and understanding (cognitive). For example, difficulty with memory or concentration.
- Problems with the autonomic nervous system; which regulates heart rate and blood pressure, among other things.
How do you get ADOA Plus?
Defect in OPA1 gene causes energy deficiency
ADOA and ADOA-plus are caused by an error in the DNA, the hereditary material. Such an error is also called a genetic variant or gene mutation. In ADOA and ADOA-plus, the error is located in the OPA1 gene.
The OPA1 gene is responsible for the production of substances (proteins) that are important for the energy factories in the cell (mitochondria). If these do not function properly, the cells receive too little energy. As a result, problems often arise with organs or tissues that require a lot of energy. In ADOA, this involves the optic nerves. In ADOA-plus, there are also problems with the auditory nerves, muscles, or other organ systems.
There are several types of errors in the OPA1 gene. With some errors, there is a higher chance that someone will develop ADOA-plus.
Heredity
ADOA and ADOA-plus are rare hereditary diseases.
Both men and women can have the hereditary predisposition for ADOA and ADOA-plus and pass it on. Every child of a parent with ADOA and ADOA-plus has a 50% chance (1 in 2) of inheriting this hereditary predisposition. This applies to both sons and daughters.
Of the children born with a defect in the OPA1 gene, approximately 95% (19 out of 20) develop symptoms. These often begin in the first ten years. About 5% (1 out of 20) of people who have the defect do not develop symptoms. However, they can pass the defect on to their children.
How is it determined if you have ADOA Plus?
The diagnosis of ADOA has often already been made by the ophthalmologist.
Heredity research
The doctor specializing in hereditary diseases (clinical geneticist) can perform DNA testing to confirm the diagnosis of ADOA or ADOA-plus. Whether you want to undergo this test is a personal choice.
The clinical geneticist can discuss the pros and cons with you. This is called a conversation about heredity and choices (genetic counseling).
DNA testing can also clarify whether people who do not (yet) have symptoms carry the hereditary defect in their DNA. We call this predictive DNA testing.
Good to know:
- The costs of a consultation and DNA testing are covered by basic health insurance. You must first pay the deductible. You need a referral from your general practitioner or specialist for this.
- A consultation with the clinical geneticist has no effect on life insurance or disability insurance. See below under Insurance in 'What can you do yourself?'.
- When trying to conceive, there are various options if you or your partner has a hereditary defect. Read more under 'What can you do yourself?'.
Determining ADOA-plus
In people with ADOA, the doctor may consider ADOA-plus if other symptoms are present, such as impaired hearing, loss of strength, balance problems, and (unusual) fatigue. Fatigue alone as an additional symptom is insufficient for a diagnosis of ADOA-plus.
The ophthalmologist and the neurologist can make this diagnosis. Your own doctor (for example, the ophthalmologist, neurologist, clinical geneticist, or general practitioner) can refer you to an expertise center; a hospital that has extensive experience with ADOA-plus. Before making a referral, your doctor may first consult with this team.
Specialized research
Radboud Center for Mitochondrial Medicine
In the Netherlands, Radboudumc Nijmegen is the center of expertise for mitochondrial diseases: the Radboud Center for Mitochondrial Medicine (RCMM). There, a team of doctors and other healthcare providers has extensive knowledge of mitochondrial diseases. With these diseases, there is a problem with energy metabolism. See 'How do you get ADOA-plus?'.
Examinations at this VWS-recognized center of expertise are usually performed during an outpatient clinic appointment with the internist or neurologist specializing in mitochondrial diseases, possibly in combination with the nurse practitioner and/or the dietitian. Sometimes additional examinations are necessary, such as a muscle biopsy or DNA testing. This varies from person to person.
For many problems involving various organ systems, a short hospital stay is sometimes necessary; the specialist and the patient decide on this together. During this admission, various healthcare providers each perform their own examinations. This is called the 'Mitostraat'. Afterwards, the results are discussed in a meeting with multiple doctors simultaneously (MDO). One or more doctors will then tell you the outcome and, together with you, create a plan to support you as best as possible.
Employees of Mitostraat are:
- Rehabilitation physician, with the physiotherapist, speech therapist, and occupational therapist
- Internist and nurse specialist
- Cardiologist
- ENT doctor and hearing specialist (audiologist)
- Neurologist
- Eye doctor
- Dietician
- Sometimes other doctors
Amsterdam UMC – Center of Expertise for Hereditary Eye Diseases
Amsterdam UMC is a VWS-recognized center of expertise for hereditary eye diseases. By the end of 2025, the collaboration between this center and LUMC and Bartiméus will also be recognized as a specific VWS-recognized center of expertise for ADOA.
Radboudumc Centre of Expertise for Hereditary Hearing Loss
Within the Radboudumc Centre of Expertise for Hereditary Hearing Loss, specialized (genetic) diagnostics are performed for various forms of hearing loss.
Other centers
The VWS-recognized centers of expertise at Amsterdam UMC and Erasmus MC Rotterdam have also been designated as centers of expertise in the field of mitochondrial diseases or muscle diseases, and thereby as centers of expertise for ADOA and/or ADOA-plus.
The Rotterdam Eye Hospital is a VWS-recognized center of expertise for rare eye diseases.
In addition to the centers mentioned, other UMCs also provide care to people with rare eye diseases such as ADOA and ADOA-plus.
What happens after the diagnosis?
After the diagnosis of ADOA-plus
Once it has been determined that you have ADOA-plus, you will make arrangements regarding support together with the doctor. This may vary from person to person. Often, your own doctor can help you further. Sometimes you remain under supervision at the expertise center, for example once a year.
How the condition progresses in your life varies from person to person. This can even differ within the same family, as well as between parent and child. For most people, symptoms worsen over the years. How much and how quickly this happens depends, among other things, on the type of error in the DNA.
Ultimately, ADOA-plus unfolds differently for everyone. This is important for the treatment and support.
What treatments are there?
Unfortunately, there is currently no treatment that cures ADOA-plus. This chapter discusses the treatment of the 'plus' symptoms.
Treatment for hearing problems
The combination of poor vision and hearing problems in ADOA-plus makes life extra difficult. Therefore, it is important that hearing problems are detected in time. An ENT specialist and an audiologist can work together to find the best way to support hearing.
Aids for hearing problems
People with hearing loss are usually given hearing aids. In cases of severe hearing problems, surgery is often possible to place a cochlear implant (CI). A CI works differently from a hearing aid. It converts sound into an electrical signal that stimulates the auditory nerve. This allows people to (usually) hear again as they did with a hearing aid. The ENT specialist and audiologist determine whether a CI is suitable.
It is important to take into account the further increase in hearing loss due to ADOA-plus when choosing a hearing aid. In addition to hearing loss caused by ADOA-plus, people often experience a decline in hearing due to aging in old age.
A hearing aid or cochlear implant is an assistive device. It can remain difficult to understand people in noisy environments. Sometimes, simple solutions such as a quieter (work) environment or explaining things to classmates, teachers, colleagues, family, and friends can be very helpful. There are also other aids available to help follow classes, the phone, TV, presentations, or meetings better. These aids can also be helpful in places like restaurants or theaters.
Support
An occupational health and safety audiology center and/or audiologist provides support in obtaining hearing aids or assistive devices and can offer advice regarding work and social situations. The most important advice is not to wait too long to seek help for hearing problems. Most people find that their quality of life improves as a result.
Hearing protection
To prevent further hearing damage as much as possible, it is advised not to listen to loud music (too often and for too long) or to be in noisy environments. Or, if necessary, to wear hearing protection.
Communication in deafblindness
If someone has both hearing and visual impairment (deafblindness), new ways of communicating are needed. For deafblindness, tactile sign language can be suitable. This is called Four-Hand Sign Language. This also includes finger spelling in the hand.
In this, the conversation partners hold each other's hands, and the deafblind person can feel what is being gestured.
Some people can still see well enough to see gestures. They can use Dutch Sign Language (including finger spelling in the air).
It is important that the gestures are made within the field of vision. Sometimes, support from a speech-to-text interpreter can be helpful.
Through training, you can learn how the different methods of communication work. This prepares you for the future. What suits you best depends on the situation and the form of deafblindness. You can also take these training courses together with your loved ones.
Various organizations offer these training courses, including Bartiméus, Kentalis, Koninklijke Visio, and GGMD (Mental Health Care and Social Services for the Deaf and Hard of Hearing).
You can find an overview at the bottom of this page.
Guidance on managing ADOA-plus
With diseases of the cellular energy factories (mitochondrial disease) such as ADOA-plus, general statements are often incorrect. For example, regarding the severity of the disease, the progression, and what to do. The severity of the condition varies from person to person, even within the same family.
That is why it is very important that the information, support, and treatment are well-suited to your situation. This way, you can work together with your doctor or healthcare provider(s) to see how you avoid becoming overburdened. It is also important to focus on what *can* be done, rather than only looking at the limitations. Read more under 'What can you do yourself?'.
For healthcare providers of people with ADOA-plus, there is a brochure from the Expertise Center for Mitochondrial Diseases at Radboudumc Nijmegen. This brochure contains advice on recovery and coping with limitations (rehabilitation) for adults with mitochondrial diseases such as ADOA-plus. This is important because general rehabilitation advice is often unsuitable for ADOA-plus.
Tip: Point out to your healthcare provider the brochure on rehabilitation for mitochondrial diseases such as ADOA-plus.
Points to consider when using medication
People with ADOA-plus need care that suits them ('tailored care'). It is important that care providers pay attention to the medication they administer.
People with a mitochondrial disease, such as ADOA-plus, should preferably not use some medications.
A group of doctors and researchers from various countries has compiled a list of:
Tip: Always tell your doctors about this list.
Alternative treatments
Unfortunately, there are no medications yet that can cure ADOA-plus. However, a lot of research is being done in this area.
For people who eat too little or are malnourished, tablets containing extra vitamins and minerals (supplementation) can be beneficial, in addition to a good diet.
See 'What you can do yourself' under 'Healthy nutrition'.
Research
Researchers are investigating ADOA and ADOA-plus. They are first trying to find a medication that keeps vision stable, so that it does not deteriorate further. It could still take years before a medication or other treatment is actually available.
New types of treatments, such as gene therapy or stem cell therapy, are also being investigated.
More research is important, because a cure for ADOA and ADOA-plus remains the ultimate goal of the Cure ADOA Foundation.
What can you do yourself?
It is important to live a healthy life: eat healthily, exercise sufficiently, and distribute your energy well.
Healthy nutrition: preventing undereating (malnutrition)
A healthy diet following official dietary guidelines is important with ADOA-plus. The parts of the cell that produce energy (mitochondria) function less effectively, and as a result, your body has different energy requirements. See How do you get ADOA-plus?
It is important to obtain sufficient energy from your diet. If this is not achieved, malnutrition can occur. With malnutrition, your body is often too thin due to insufficient body fat and muscle mass. You then have a poor nutritional status.
To prevent malnutrition:
- Definitely not, and do not go on a strict diet where you eat very little (crash diet).
- Keep in mind that your body needs more energy when you have a fever.
A dietitian can provide advice on what diet suits you. The goal is for your diet to be healthy, your nutritional status to be good, and thus for you to have a better quality of life.
Getting enough exercise without overexertion
A physiotherapist (specialist in movement) can advise you on a training program that suits you. This helps improve your fitness and strength. With strength training, the focus is primarily on how long you sustain an effort (endurance) and less on becoming as strong as possible.
Examples of good workouts are walking/running with a buddy, tandem cycling, swimming, fitness, and dancing.
Distribute energy well
An occupational therapist can teach you how to distribute your energy effectively, for example by using handy methods or aids. This prevents you from becoming overloaded and allows you to simultaneously discover what you *can* do.
What should you not do?
There are also things you are better off avoiding if you have ADOA-plus. The advice is:
- Do not engage in very strenuous physical activities.
- Avoid stress or excessive exertion, for example when ill or having a fever.
- Definitely not, and do not follow a strict diet where you suddenly eat very little (crash diet).
- Do not smoke and do not use an electronic cigarette (vape).
- Drink no alcohol.
- Don't use drugs.
- Do not take medicines that are bad for people with ADOA-plus.
Coping with your disability
The symptoms of ADOA-plus have a significant impact on your daily life. Poor vision, poor hearing, and fatigue have consequences for school, your career choices, your social life, and your hobbies.
At Visio or Bartiméus, you can request a meeting with a social worker or psychologist. They can help you learn to cope with your double disability. Additionally, they can provide tips on how to find more ease in your life, such as using an assistive device when watching TV, making calls with headphones, using a special pass on public transport, possibly taxi transport, etc.
Fellow sufferers contact
It can be comforting to share experiences with people who have the same illness. This is called peer support. It shows you that you are not alone. You can exchange tips and practical solutions.
There is a special ADOA-plus day every year. There is also a separate group in the ADOA app. And a WhatsApp group exclusively for people with ADOA-plus (you can sign up via 06-57276427).
Bundling
We also have our own app for everyone connected to ADOA(-plus). With this app, you can have conversations in group chats or chat one-on-one with each other.
We also share news items and activities in the app. So with this app, you stay up to date with all the latest news.
wish for children
If you (or your partner) have a hereditary disease, this may play a role in your decision whether or not to have children. It also means that there are choices to reduce the risk of ADOA and ADOA-plus in a child.
With ADOA and ADOA-plus, you know that every child has a 50% (1 in 2) chance of inheriting the defect in the OPA1 gene. If a child inherits this defect, approximately 95% (19 in 20) will develop actual symptoms.
Choices regarding the desire to have children differ from person to person. It can also depend on how someone experiences their life with ADOA and ADOA-plus. It is good to know that the severity of symptoms in the child may differ from that in the parent.
Not wanting to have a child with ADOA or ADOA-plus does not mean that wanting a child is impossible. There are various possibilities, including PGT. This is a test performed on embryos before they enter the uterus (embryo selection, pre-implantation genetic testing).
Tip: Talk to your doctor about your desire to have children even before conception.
Insurance
It is good to know that a hereditary defect in your DNA can sometimes have consequences if you want to take out insurance. For example, life insurance and/or disability insurance (insurance for when you can no longer work). With regard to disability insurance, this applies (almost) exclusively to self-employed individuals. People who are employed are (almost) always insured collectively through their employer.
A consultation with the clinical geneticist has no influence on this. Up to a certain amount, the insurer does not ask about hereditary diseases in the family. Nor do they ask about the results of your own DNA testing. Above this amount, an insurer is allowed to ask about this. This applies even if you have not had DNA testing done yourself, but one of your parents has symptoms consistent with ADOA (plus).
What does the Cure ADOA Foundation do?
Since November 2018, the Cure ADOA Foundation has been dedicated to people with ADOA or ADOA-plus and their families. It is a recognized patient organization.
The foundation has four goals:
- Support scientific research
- Advocacy
- The popularity of ADOA(-plus)
- Peer support.
The ultimate goal is to prevent and cure ADOA and ADOA-plus. Questions about ADOA-plus? Send us an email!
Want to know more? You might also find this interesting:
On our website
- What is ADOA – Dutch digital patient leaflet
- ADOA Plus Day March 29: learned a lot from Dr. Janssen and each other!
- ADOA podcast Episode #13: Dr. Mirian Janssen about ADOA-plus
- Gabrielle's story
- The road to treatment 21 on heredity
- Overview 'The road to treatment'
- Lifestyle tips
- Medication list for ADOA/ADOA-plus (downloads)
- ADOA and child wish (PGD)
- Other useful links
Fellow sufferers contact
- Fellow sufferers contact
- The Cure ADOA Foundation app: in touch with each other!
- A WhatsApp group exclusively for people with ADOA-plus (you can sign up via 06-57276427)
Other websites
Erfelijkheid.nl:
- Autosomal dominant inheritance
- DNA testing for a diagnosis
- What if you could pass on a hereditary disease
Radboud:
- Radboud Center for Mitochondrial Medicine – Information for patients
- Radboud Center for Mitochondrial Medicine – Brochure for healthcare providers on rehabilitation for mitochondrial diseases
- Hereditary hearing loss
Other
- Kinderneurologie.nl – DOA-plus syndrome
- Orpha.net: Autosomal dominant optic atrophy plus syndrome
- Oogfonds.nl
- Expertise Center for Hereditary Eye Diseases Outpatient Clinic Amsterdam UMC, AMC location | Amsterdam UMC
- DB Connect | Everything about deafblindness – the national information point
- Independent Platform for Cochlear Implantation Foundation (OPCI)
- Hoormij Foundation
Aid organizations
- Vilans Assistive Devices Guide
- Overview of assistive devices for people with hearing and visual impairments – Deelkracht
- Royal Visio
- Bartimeus
- Eye Association
- Royal Auris group
- Royal Kentalis
- National Deafblindness Information Point DB-connect
- Information about hearing and balance disorders – Stichting Hoormij
- Deafblind – Deaf
- GGMD – Living a better life with deafness or hearing impairments
- Dutch Sign Language Center
