Kim (25) has autosomal dominant optic atrophy (ADOA), a condition in which the optic nerve fibers shrink. She has been a general board member of Cure ADOA Foundation since December 2019, in addition to her work as a physician researcher.

Autosomal dominant optic atrophy (ADOA) is a condition in which the optic nerve fibers shrink. What exactly does ADOA mean?
ADOA is a hereditary eye disease. There is a mutation in the OPA1 gene that causes insufficient production of the OPA1 protein. This protein is necessary for the mitochondria (the energy factories of the cell). The optic nerve uses a lot of energy. Because he does not receive enough of it, it becomes damaged. This results in optic atrophy and causes complaints such as reduced vision, a reduced field of view and problems with seeing colors and contrast.

In 10-20% of people with this mutation, this mutation also causes too little energy in other parts of the body. This can cause complaints such as hearing loss, muscle problems, parkinsonism and problems with the eye muscles. It is thought that this may be caused by other genes or factors.

It is an autosomal dominant disorder. What exactly does that mean?
This is about the degree of inheritance. The fact is that if someone has the OPA1 mutation, he or she has a 50% chance of having a child with ADOA. Regardless of gender.

Sometimes the mutation arises de novo. Then a new mutation has arisen.

5% of people with the OPA1 mutation experience no complaints. In principle, they do not actually have ADOA, they only have the gene, but they can inherit it to any children with a 50% chance. 

Men and women have an equal chance of getting ADOA. If one of the parents has ADOA, there is a 1% chance that the child will also get it. Do you also have family members with ADOA?
Yes, a lot actually. My brother also has ADOA. My brother and I inherited it from our father, and both his brothers also have it. My father gets it from his father, so my grandfather. However, I don't think he had any manifestations of the disease. I know it comes through him, because there are also people with ADOA from that side of the family. The mutation has certainly existed in my family since the mid-1800s. I know this because another board member of the Cure ADOA Foundation also has the disease and we have a connection in the family tree in the very distant past.

Are the complaints you experience comparable to those of your family members?
Not necessarily. My father and uncle are identical twins and have less than 10% vision and had very poor vision as a child, while their brother still sees around 30%. I see about 60% myself.

As mentioned, ADOA is hereditary and there is therefore a chance that you will pass it on to your possible child(ren). Is this something you take into account?
Yes, I take this into account. There is a possibility of having children through pre-implantation genetic diagnosis. This means that only eggs without the OPA1 mutation are used during an IVF procedure. If I want children later, I will consider this. In particular, because the severity of the disease can vary greatly and ADOA+ can suddenly develop within families. I am very conscious about it in that regard.

In addition to ADOA's effect on vision, it can also cause other complaints, also known as ADOA+. This includes complaints such as hearing damage and nervous system disorders. What complaints do you experience yourself?
I only experience problems with my vision. I see about 60%. Somewhere in the first grade I went to an ophthalmologist because my vision could not be completely corrected with glasses. The diagnosis of ADOA was not made at that time, because I did not have clear optic atrophy on the eye scan. I also think that the doctor who examined me at the time also had too little knowledge about this disease. My parents were also told in the past that women can only be carriers of the gene. So this is not correct.

When I was already studying medicine and finally saw the full name of the condition, I started doing my own research. I actually already knew it then, I also have ADOA. It was still a challenge to convince everyone of that. Of course I would have hoped that they were right, but alas.

I don't think many people realize the impact that reduced vision can have. Of course this also varies a lot per individual and I think that your own character and the way your family deals with this also has a major influence on this. I notice from contact with fellow sufferers that everyone deals with it very differently. One person ensures that his or her child receives as much support as possible, while the other prefers to act as normally as possible.

I am very happy that I have never been genetically tested in the past, because I think that if I had known then that I had ADOA, I would never have become a doctor.

I am often asked whether I could also become blind and whether I am afraid of that. I always find that question very difficult. Which is not possible, I think. In general, ADOA is slowly progressive, but I also know other stories. However, I am absolutely not scared by this, because I have full confidence that there will be a treatment before then!

How were you ultimately diagnosed?
That was 6 or 7 years ago now, so I don't remember exactly. I was referred to the ophthalmologist at the UMCG who, I believe, diagnoses and checks all people with ADOA in the Groningen and Drenthe area. I first had a simple vision test, which was abnormal at the time, a pressure measurement of the eye, visual field exercises, I had to do something with blocks and contrast and one of the important tests was an OCT scan in which the optic nerve is clearly visible. I think the last examination was not too bad for me, but recently the optometrist noticed that my optic nerve is pale. In the end I did not have genetic testing done, because the clinical picture and my family tree were sufficient and I was afraid that this would get me into trouble with insurance. 

You see 60%. What should I imagine?
With 60% I can see something clearly at a distance of 60 meters that someone else can still see clearly at 100 meters. If someone else can read letters from 10 meters away, I can do so from 6 meters. At least, that's what I was told once. So not that dramatic for me. How he or she sees differs per person, but in principle problems arise with central vision. Your brain often completes it itself, so you have an image. I don't have visual field loss myself, but others sometimes do. 

Can you predict how ADOA will develop for you in the coming years?
In general the disease is slowly progressive. However, I know from contact with other people with ADOA that things can sometimes suddenly deteriorate considerably. I hear in particular from women who have had children that their vision has deteriorated during pregnancy. I expect that my vision will continue to be 'reasonable' for the rest of my life and I am not afraid that my vision will be as bad as my father.

Although ADOA is slowly progressive, you can never be 100% sure how it will develop for you. How do you stay so optimistic?
I think that's because I mainly live in the here and now. Because I only found out about the diagnosis later, I did not let it unnecessarily limit my life. Also, the world today is so different than when my father was young. If things suddenly deteriorate significantly, I will find my way around it. There are good agencies such as Visio and Bartimeus. I also think that within ten years there will be a treatment that slows the disease. 

To what extent does ADOA influence you in your daily life?
I used to want to be a surgeon. I immediately talked this out of my head, but I found it to be the most difficult part of the diagnosis. That my dream for the future had suddenly been taken away from me. That's why I couldn't really enjoy this internship, because I didn't want to enjoy it too much, because that would be too confrontational. Fortunately, I was at the beginning of my training and now have other career goals. I recently started as a physician-researcher. I hope that I will still like this after the process, so that I can always fall back on it if my vision becomes too bad to work in the clinic, but of course we don't assume that at all!

Unfortunately, there is no treatment that can cure ADOA. Are there treatments or things you can do yourself to limit the complaints?
Yes, there are some general guidelines, such as moderating alcohol, not smoking and a healthy diet. However, I think this counts for everyone!

There are also many stories going around about vitamin supplements and so on. However, there is no hard evidence for this and we do not recommend this on our website. People often think: it doesn't help, it doesn't hurt. Only sometimes it hurts the wallet... Haha. We do have a list on our website of medications that have been proven to have a negative effect on mitochondrial diseases, which includes ADOA.

To your knowledge, are there currently any studies underway into the treatment and/or cure of ADOA?
Yes, a lot of research has been done lately. For my volunteer work as a board member of the Cure ADOA Foundation I am in regular contact with pharmaceutical companies who are well on their way to providing treatments. A number of volunteers also regularly interview researchers for our website (The road to treatment | Cure ADOA Foundation). We also raise money for research done at Stanford University. There is currently money available for a year's worth of research specifically into ADOA. At this point we have raised almost 100.000 euros, which is enough for an additional year, so we hope that we will reach this amount and eventually Stanford will want to continue with the research and that we can then fund the second year of this research as well! 

TIP:
A special site has been created about ADOA by the Cure ADOA Foundation: www.adoa.eu
Nina Warink, Kim's niece and a well-known YouTuber, has also made a documentary about ADOA: documentary ADOA
Are you willing and able to spare something for research into ADOA? Then you can go through this link to donate.