CURE ADOA FOUNDATION
What is ADOA(-plus)?
Autosomal dominant optic atrophy (ADOA)
ADOA is an extremely rare hereditary condition. The term "autosomal dominant" describes how the condition can be inherited from parent to child. The term "optic" indicates that there is an issue with the optic nerve. The term "atrophy" means that this optic nerve progressively becomes thinner.
ADOA leads to a progressive loss of vision. The condition has overlaps – in addition to ophthalmology – with neurology and energy metabolism/mitochondria. ADOA involves progressive damage to the optic nerve with pallor of the optic disc (optic nerve head) and changes in vision. This includes a decrease in sharp vision, blurry vision, reduced contrast sensitivity, and abnormal color perception. Some degree of tunnel vision and abnormal pupil reactions may also be present.
From the earliest childhood years, ADOA patients experience a deterioration of central vision. Over time, their vision gradually becomes increasingly blurry. The degree of visual impairment can vary from moderate to almost complete blindness. The disease affects approximately 1 in 30.000 people (in Denmark, it's estimated to be 1 in 10.000-20.000). So far, there is no available treatment that can halt or cure the disease.
Cause of ADOA
ADOA is a hereditary disease. There is a mutation in the OPA1 gene, which means that there is an error in the DNA (our genetic material) on the OPA1 gene. This gene can be passed on from both the father and the mother. The OPA1 gene is responsible for the production of the OPA1 protein. This protein plays an important role in the mitochondria, the energy factories of our body. Due to the genetic error, too little or malfunctioning OPA1 protein is available for the mitochondria. These then break down or cannot provide enough energy. The optic nerve is very sensitive to the occurrence of a shortage of energy. This can cause nerve fibers to break and die. The diagnosis can be confirmed by means of genetic testing. The severity of the complaints can vary greatly within families. About 5% of people who are predisposed to ADOA do not develop any complaints.
Treatment at ADOA
There is currently no treatment for ADOA or ADOA-plus. Since the disease affects the optic nerve, visual aids such as glasses or contact lenses will not help improve vision problems. Eye examinations, such as the measurement of visual acuity, color vision and visual field, are required on a regular basis. This is to gain insight into the course of the disease.
Low vision aids can be useful for people with severely reduced visual acuity. Please contact us for this Royal Visio of Bartimeus. If you want to know whether it is possible to have children without risking passing down ADOA, you can read more about it here: pre-implantation genetic diagnosis. Because of the lack of research on ADOA, the core of our mission is to raise funds to support new research so that ADOA patients can one day experience treatment and healing.
Interview with Dr. Patrick Yu-Wai-Man, Cambridge University
Because there are so many questions about ADOA, we interviewed Dr. Patrick Yu-Wai-Man in May of 2018 (Dutch subtitles can be found in the settings: Subtitles (c)).
Autosomal dominant optic atrophy-plus syndrome (ADOA-plus)
ADOA-plus is a variant of ADOA and occurs in about 10 to 20% of all patients with ADOA. With ADOA-plus there are also complaints from other parts of the body. Examples include: deafness, muscle weakness, reduced coordination of movements, balance problems and reduced sensation. The severity and number of complaints differ per person.
Complaints to ADOA plus
The disease is characterized by bilateral vision loss and reduced color vision. This usually occurs in the first ten years of life. In addition, progressive hearing loss often occurs with ADOA-plus. This hearing loss is caused by loss of function of the auditory nerve. In most cases this occurs between the ages of ten and thirty. After the age of thirty, other complaints may also arise, such as weakness of the eye muscles (CPEO), muscle weakness and stiffness, especially in the thighs and upper arms (proximal myopathy), problems with balance, reduced coordination of muscle movements (ataxia) and/or reduced feeling. In rarer cases, there may also be Multiple Sclerosis-like complaints, migraine, enlarged heart muscle (cardiomyopathy), diabetes in later life and spasticity of the arms and legs.
It is not the case that all of the above complaints occur in people with ADOA-plus. Some patients experience one additional complaint and some experience several. It is not yet known why the pattern of complaints varies among patients.
Living with ADOA plus
Unfortunately, ADOA-plus cannot be cured. However, the quality of life can be improved in various ways. In case of visual impairment, aids can be considered to enable you to still see things, for example via Visio or Bartimeus.
In case of hearing loss, a cochlear implant (electrical implant) may be considered. Another option is a hearing aid, but this does not solve the problem properly. There are also other tools to improve quality of life, such as a special doorbell and solo equipment. The Royal Auris group, Royal Kentalis en National information point for deafblindness can provide support in this regard.
Physiotherapy programs for muscle complaints can be useful for patients with multiple sensory and motor impairments. Sometimes chiropractic care is also recommended. Occupational therapy is recommended for fatigue complaints. With occupational therapy you learn to balance your life and take care of energy distribution. Consuming alcohol and tobacco is not recommended, as is the use of medications that affect the mitochondria.
Impact of ADOA-plus
The life expectancy of people with ADOA-plus is just as high as in healthy people, but you can imagine that having ADOA-plus can have a considerable influence on quality of life. The combination of being visually and hearing impaired can be very frightening. That is why it is important that sufficient attention is paid to utilizing and having access to the right help and resources. Guidance from Bartimeus or Visio is therefore recommended, because they look at all solutions with a broad perspective. Here you will find an interview with Gabriëlle, board member and secretary, she also has the ADOA plus syndrome.
