What questions do patients ask about their vision with inherited retinal disease?

In this blog post, I ask Professor Michaelides what common questions patients ask about retinal disease.
Jane Olver: What are the main things patients ask you… the main things… what I mean is what is inside them, their main fear that they either do voice or do not voice to you when they are sitting in a consultation with you?
Professor Michel Michaelides: They are often unclear about

• whether their disease is truly inherited and genetic, and if it is something that is inherited, is it something they can pass on and what is the likelihood of it being passed on? That is a common question because at least half the time, there are no other family members known to have inherited retinal disease. So, patients often say, how can it possibly be inherited when there is no one else in the family who has the condition? So, that is a widespread concern.
• There is also a concern about if there is something else they could have done to not pass it on.
• Is there something they could do to improve their outcome and slow their rate of progression?
• Are there any treatment trials out there?
• Should they be heading to all these places they find on the internet, which is a great and a terrible source of information at the same time. Should they be going to all these far-flung places to pay enormous amounts of money to have “treatments”?
• Another main concern is, will they lose their vision in its entirety, so they are very concerned if will they go “blind.”

Jane Olver: Do you actually use that word with them or do they use it?
Professor Michel Michaelides: They use it. And, sometimes you can tell that is what they are asking. So, I will then use the word so that we are clear what we are talking about it and actually the good news is that it is very, very unusual, very rare for patients to lose vision altogether, so they almost always retain a degree of vision.
Jane Olver: So how long… I do not remember inherited retinal disease existing. When I was at Moorfields, and I am not that old, but I am fairly old, but we had medical retina, and the big thing was age-related macular degeneration. There was perhaps a little bit of age-related macular degeneration and a bit of retina pigmentosa. Now it seems to have mushroomed and grown. Is it really an expanded subject? Are there enough doctors to go around to cover this area?
Professor Michel Michaelides: I think that is right, so it is a field you are right without a doubt has mushroomed over the last two to three decades particularly. Partly because of the advances in molecular genetics, so the identification of the first gene and then after that over three hundred genes have been identified and that without a doubt has made a massive difference. Also, the novel therapies that have come online in the last few decades including gene therapy, stem cell therapy, artificial vision. I think because of the therapy side of the things it has now not been deemed an area of only academic interest, so I think more people have been attracted to the area. So you are right it has been transformed over the last three decades. You are also right that it could do with a lot more specialists without a doubt and there is still that sort of specialist joke – if that is the right word – ‘orphan doctors for orphan conditions’, so we could definitely do with more specialists. I am hopeful that there will be more moving into it.