In this interview, Dr. shares De Coo shares his knowledge and insights about Autosomal Dominant Optic Atrophy (ADOA), Dr. René De Coo has given an interview that has been published on the website of the Catholic Foundation for the Blind and Visually Impaired (KSBS). René is also a member of the medical advisory board of the Cure ADOA Foundation.

Dr. René de Coo is a pediatric neurologist and a leading expert in the field of genetics and neurology. He was trained as a neurologist at the Radboud Hospital and later specialized as a pediatric neurologist. His special attention was paid to mitochondrial disorders or disorders in energy management. He worked in Rotterdam for twenty years as a specialist in energy management disorders. For five years he has been working as a neurologist and researcher at the University of Maastricht at the faculty of 'Health, Medicine and Life Sciences'. There he sees and examines children and adults with rare neurological disorders and conducts research into diseases such as ADOA. Dr. de Coo is also a medical advisor for the NeMO Foundation (Neuromuscular and Mitochondrial Research). This foundation is committed to research into rare disorders in energy management. https://stichtingnemo.nl/

I interviewed Dr. de Coo about the rare hereditary condition ADOA.

What is ADOA?
ADOA is the abbreviation for autosomal dominant optic atrophy. Autosomal dominant means that the condition is hereditary. If one of the parents is a carrier, each child has a 1 in 2 chance of passing on the condition. Optic atrophy refers to the damage of the optic nerve.

What then happens to the optic nerve?
Light enters through the lens of the eye, which then reaches the retina with the pigment cells via the vitreous humor. From here, signals are passed on to the optic nerve nodes (called retinal ganglion cell [RGC]). These optic nerve nodes lie against the vitreous humor and form the beginning of a long nerve path that ensures that the light signal from the eye is transported via the optic nerve to the brain. This RGC layer does not function properly in ADOA. As a result, the signals are not transmitted properly. The result is that vision decreases.

What are the first symptoms of ADOA?
In most cases, ADOA manifests itself in the first ten years of life. If one of the parents has ADOA themselves, they will be attentive to how their child's vision is developing and will quickly raise the alarm if they have any doubts. But it is a bit more difficult for parents, who hardly have any complaints themselves. Very young children cannot yet indicate that their vision is becoming worse. In addition, the first symptom is that they see less in the center of their field of vision. Children compensate for this by moving their heads back and forth. It is also true that the lenses of young children are still very flexible, which means that an optician does not immediately have a clear image.

How is the diagnosis made?
If parents visit an experienced ophthalmologist, they will notice two things: pallor at the papilla, the place where the optic nerve enters the eye, and moving the head back and forth to reduce vision in the center of the field of vision. compensate. In some people, color vision, especially blue/yellow vision, is reduced. A retinal scan (OCT) provides the ophthalmologist with even more information. If ADOA is subsequently suspected, genetic testing may follow.

Is the hereditary condition ADOA 100% transmissible?
If one parent has ADOA, a child has a 50% chance of developing ADOA. This does not mean, however, that the extent to which ADOA reveals itself is the same for everyone. The condition can also manifest itself at a different age within one family and the severity of the eye condition can also differ.

How is that possible?
ADOA is expressed in varying ways, because the disease is not only dependent on a defective gene, but also on other substances in the body. We don't know exactly how that works.

What is the course of the disease?
In general you can say that the disease is slowly progressive. In practice, this means that vision continues to deteriorate, but here too you see a varying picture. In some patients stabilization occurs, but other patients may become blind.

Is there a treatment for ADOA?
Studies are underway with medication, but so far there is no specific medication that actually has an effect. Furthermore, research is underway into the possible effects of vitamin D3 and the amino acid taurine. Attempts are also being made to tackle the defective gene called OPA1. Gene therapy can work for a gene that is easy to access and that only has one function, but that is not the case here. Another element that makes it complicated is that we have found that ADOA is not only caused by the faulty gene, but also by other substances and processes in the body.

Are there no prospects at all?
Yes I think so. All kinds of research is still being done. There are so-called sleeping cells in our body. In the distant future it may be possible for such a cell to take over the function of a defective nerve cell.
And what we are also investigating is whether we can increase the energy level of patients. It is a common complaint that patients experience great eye strain. If we can boost the mitochondria, the energy factories in the cells, this can have a positive effect on the patient's well-being. I think within two to four years we will be able to say whether this is a viable treatment that could potentially slow progression of the condition.

What can the patient association do for ADOA patients?
A lot! It is a particularly active association that regularly organizes information days. In addition, contact with fellow sufferers is useful and important. Patients can register via the website

The documentary was released last year Blurred – Living with ADOA by Nina Warink.

You can find the original interview here: https://www.ksbs.nl/de-stem-van-grave/artikelen-uit-de-stem-van-grave/oogaandoeningen/adoa-ofwel-autosomale-dominante-opticusatrofie