Interview Cansu de Muijnck, by Maud van Gerwen (board member)

Cansu is a PhD student doing doctoral research on hereditary opticus atrophies (including ADOA). She works with Camiel Boon, Arthur van Bergen and Mies van Genderen, all specialists in this field.

Cansu is originally from Turkey and came to the Netherlands four years ago for love. It took her a year to get her medical degree recognised here and she then worked in various positions in a hospital.  A year and a half ago, she started her PhD in Ophthalmology. She officially works at the UMC Utrecht, but all the research takes place at the AMC and at Bartiméus. The AMC and Bartimeus are centres of expertise for hereditary eye diseases.  

Cansu explains that her research consists of two parts. ‘First: In 40 per cent of people with hereditary opticopathy, no abnormal gene has been found with the regular diagnostic tests. We will check whether we can still find an abnormal gene.  Secondly, sometimes a gene abnormality has been identified but is very rare. Little is known about the clinical characteristics that go with it then. We are going to describe those characteristics. We will also look at the electrophysiological characteristics of hereditary opticopathy, by measuring the signals the optic nerve transmits to the brain. ‘

I notice that Cansu keeps referring to ‘opticopathy’ where we more often speak of ‘opticus atrophy.’  She explains to me that opticopathy means ‘disease of the optic nerve’ and opticus atrophy means a ‘dead optic nerve’.

How do you know someone has a hereditary defect if you can’t find a genetic defect? ‘By looking at family circumstances. If it is more common in the family, you safely assume it is hereditary. But it’s still an assumption. That’s why we always talk about a suspicion of hereditary opticopathy if no genetic abnormality has yet been identified by genetic testing. You can also try to rule out other causes. If it is not inflammation, brain tumour, excessive alcohol consumption etc, it could be something hereditary’

‘If there is an abnormality on the OPA1 or OPA3 gene, we speak of ADOA. But of course, there are many more genes where something can be wrong. Nowadays, we test for 34 genes. In the past, this number was 3. As soon as an article is published, it is changed again. In France, they are already testing for 80 genes.’

Cansu will spend four years on her research. That is the time allowed for a PhD. She now is one and a half years into it. ‘Last time, I arranged all the consent for the genetic part of the study. I have just started patient inclusion.’ Cansu also writes articles. She is involved with research on ‘Wolfram-Like syndrome’. This is like ADOA but caused by a different gene. An article will be soon published by her.

What do you hope to have achieved with your research in four years’ time? ‘I hope to find the cause of disease for some patients. Knowing where your disease comes from is important to many people.  If you know on which gene there is an abnormality and you know what symptoms go with it, you can make a better prognosis for someone. ‘Also, Cansu wants to build up a lot of knowledge about Wolfram-Like syndrome.’ That is the second most common abnormality after the OPA1 gene.

Cansu is still looking for patients to participate in her study. If you are interested, please get in touch. Taking part means taking blood once.