So, if someone with Alport Syndrome has some problems with their eyes, either see their GP or their optometrist and then they can get referred to their local ophthalmology eye department in the hospital, and cos obviously people with Alport Syndrome can get other eye conditions like everyone else can get as well, so it is worth having that looked at. But if they feel that there are certain things that aren’t being treated, or there are certain problems they’re having that aren’t being resolved, then sometimes as we’ve seen, now quite a few patients with Alport Syndrome we’d look at their eyes; we’ve got a feel of, of how these changes occur and what they look like. We’d be more than happy to see them as well, and at the moment I guess one could get in touch via Alport UK or via email and we could advise you about how you could maybe get your GP to refer you down to us in London, that’s another possibility.

Yeah I think one take home message is the fact that we are able to treat the anterior lenticonus, the lens abnormalities in Alport Syndrome, with very, very high levels of success; that’s quite a positive message that people should be aware of. I have sort of met patients who have Alport Syndrome who were discharged from eye hospitals and eye departments many years ago, saying there was nothing that could be done, but actually there are things that can be done and, and so if looked at in the right way with maybe with the right equipment one can see whether someone would benefit from lens surgery which can really improve their vision a great deal.

The good thing about Alports is generally if, if someone’s not having any problems with their vision there isn’t really anything to worry about, it’s not like there’s an early stage we could look at and do something before someone’s noticed any problems to prevent them having problems in the future. So, generally if someone’s not having any problems at all, no odd visual symptoms, or problems with their eyesight, then they don’t need to worry. We’re more than happy to still look at their eyes as part of the research cos it will be really helpful to help understand Alport Syndrome, but there’s no urgency for their vision to see us for example, and their local eye department should be fine. There’s also on the Alport UK website, and I understand they’re putting some information and some advice on, on what specific things to look for in the eyes and that can be helpful as well.

Yeah, so this particular study started a few years ago. But and so far we’ve looked at about fifty patients and relatives and done our sort of imaging tests which is non-invasive imaging. It’s basically photographing the back of the eye; it doesn’t hurt at all, and with specialised equipment that lets us see the layers of the retina. That’s only really been going for the last five years which is a long time but for something as rare as Alport Syndrome, and to try and you know have people agree to come down to see us in London, it’s just been steadily, the numbers have been increasing over the last few years, and probably we’re hoping to publish our preliminary findings within the next year or two on the people we’ve looked at so far, but this is probably a long-term project where we’re going to try and increase our numbers.

Yeah, so in the future in terms of diagnosis I think it’s going to be very helpful to have these retinal images, these advanced retinal images where we can see the layers of the retina, because so far that’s not really included in the test people do to see whether someone has Alport Syndrome or not, but now that we know that people have these changes it could be really helpful to look at that and in the future we can work out how useful those tests are to help diagnose Alport Syndrome.

So, so not everyone with Alport Syndrome has the eye affected; the eye may be unaffected, whereas the kidneys for example are always affected pretty much. And it can affect different parts of the eye. The lens inside the front of the eye that focuses light can become a bit abnormal in shape and we call it lenticonus. So, it normally looks a bit like a lentil and it, and it can become a bit more like a cone, and that’s why they call it lenticonus, and it’s something that really only happens in Alport Syndrome, so it’s quite specific to Alport Syndrome. And it can affect the vision, can reduce the vision quite a bit, but we are able to do an operation that can treat lenticonus; it’s similar to normal cataract surgery which most eye doctors do, and we generally get very good results.

Another way in which it can affect the eye is it can affect the retina – the nerve layer at the back of the eye – and it can cause a thinning in the retina and some little dots in the retina that we call flecks. And at the moment we don’t quite know why it causes the thinning of the retina and the flecks in the retina, and we’re looking at that in greater detail. But they tend not to affect vision so, from that point of view its good news for the patient in that those aspects of Alport Syndrome don’t seem to affect the vision much.

And another way it can affect the front of the eye making the eye a bit more dry or gritty, something called a recurrent corneal erosion. That can affect anybody but we, there’s a feeling that it may be more common in Alport Syndrome than in the general population, and that can normally be treated with artificial teardrops, so again that can usually be treated in most cases.