Alport Syndrome
Alport Syndrome and eyes
Although not all people with Alport Syndrome will experience eye abnormalities, some may develop eye problems or changes. For many people with Alport Syndrome, ‘flecks’ may be seen on their retina (‘dot-and-fleck retinopathy’) but ‘flecks’ don’t usually cause sight problems. Alport Syndrome is linked with certain lens abnormalities (also known as ‘anterior lenticonus’) which can lead to worsening eyesight and possibly cataracts (that may need removing). Some people may experience ‘corneal erosion’ which could give symptoms of dryness and itchiness. Here Dr Omar Mahroo, an eye doctor explains the problems people can experience with their eyes if they have 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.
Some people we interviewed were aware that eyesight problems can be part of having Alport Syndrome. Often people talked about hearing loss and eyesight issues together and whether they had experienced any problems with either.
Those with children with Alport Syndrome said it was important to have regular eye tests in case there were problems in the future. People spoke about other family members having problems with their eyesight. Debra said that she remembers her dad’s eyesight being really bad.
I think, you know, there was always things. I was always going to hospital for different stuff, and check-ups. And I've had my eyesight tested, I've had the hearing tests, I've had - you know - all sorts of things. So I remember going when I was wee, and getting - you know - the like putting the side of your face to hear, and they're saying that there's a certain frequency that I can't hear. They said that it doesn't affect my kind of normal day to day. My eyesight's alright, its fine. Didn't get that. But that's one of the things that I was really quite worried about, because literally all my family wear glasses. But my Dad's sight is really, really, really bad. Yeah. He's really bad. He's waiting - he's waiting, he'll go and get the surgery. He's been offered it. And he refused. And now he's saying he wants it again. But I think when it comes up again, he'll refuse it again, because he's got dementia now. So, and you can't force him to get something done. Because he might want it today, but then if he gets the appointment then he might not want it. I know. So the hearing, his hearing is really bad. He's got two hearing aids as well. But apart from that, I just - my general health's not bad.
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.
Some people who experienced eyesight problems were unsure about whether or how these were related to having Alport Syndrome, but some were sure it was due to Alports Syndrome. Some people couldn’t remember the name of their eye condition and wondered if their eye problems were caused by medication or kidney problems. People described having eye problems like an astigmatism or different shaped eyes that were “rugby-ball shaped” or “cone-like”. Others mentioned having flecks in their eyes.
But they also go for the eyes testing as well. Because they have flecks on the, not sure what they're called [laughing]. Little flecks.
The retina, is it?
Yeah. And they both do have those flecks as well, although their vision's fine. Yeah.
So that was picked up.
Yeah.
How old were they when that was picked up?
Well that was the consultant that said about that. Normally they'd just have their routine eyesight test at school, which brought up no problems. The school nurse does that. And I didn't feel like they needed it checking any more. But it was the consultant that said, "Are you aware of these eye problems?" And he said, "I suggest you go for their eyes testing every twelve months as well." So I just booked in to the local optician, and they send for them both every twelve months.
And they pick that up, do they?
Yeah they, they took a picture of the back of the eye. It was just like they're just really simple - put their head on this thing and just a flash in their eye. And when they've picked - they did show me the pictures, but over the last couple of visits, they haven't changed at all. So I'm quite happy with their eyes at the moment.
A few people said they had cataracts removed from their eyes. Some were unsure if the cataracts were due to Alport Syndrome or whether it was a side effect from medication (like steroids). Some people thought that cataracts had developed after their kidney transplant. People had different experiences of having their cataracts removed.
Paul: Yeah. Well, I don't - I don't know how, to what extent it affects, Alports affects the eyesight. But we, we didn't look into that any further did we. We was supposed to go up and have some tests at [the hospital], but –
Emma: I didn't have tests on my eyes.
Paul: But it was one of those things we said yeah, we'd be interested in possibly helping with, but we actually never got into it after that. But I had my - I had cataracts removed when I was what? Early twenties? Mid twenties? I can't remember now.
Christine: It was when –
Paul: It was early twenties.
Christine: Yeah, it was.
Paul: It was early twenties. So I had cataracts growing all the time, because of all the steroids I was taking, etc. And Alports, I'm assuming. But I, we don't know, I don't know exact reasons for that. I know why you get the hearing problem, because of the -
Collagen, isn't it.
Christine: Yeah, collagen.
Paul: Yeah, the collagen missing in the kidney and the ear, it's the same one, from the DNA. But I don't know about the eyes. But I had cataracts growing, and I had those taken out. I had lens, artificial lenses put in. And I've actually just had some laser treatment on the left one, because if you have lenses put in at an early age, fibres start growing across them.
Okay.
Paul: So they've had to blast a hole through that, so that it's clear. It was starting to get all blurry, so I went and got that sorted out. And that's, that's another thing. It's just, it's just a hundred and one things you have to deal with, and - you know - as I say, that's why a dentist appointment is just another pain in the backside. More so than for most people. So that's sorted. So my, yeah - I wear glasses. It's like anybody else so, you know, I don't - you know, that's not a problem. I haven't had to, because I had the lenses put in. But that was just another part of it, so. I don't regard that as - I don't know. I never thought of that as being Alports. I thought of that as being the steroids, which was connected to it, I suppose. Which was a kidney problem.
Christine: Some things are connected in a roundabout way, isn't it.
Paul: Yeah. Yeah. Yeah.
Christine: Because it's to do with the treatment maybe, that causes something.
Paul: Yeah. Yeah.
Christine: Or a side effect.
More recently I've had some issues with my eyesight, which is linked to the Alports as well. So that's been - again, so I think of the eyes separately, as separate, and the kidneys as something else as well. I had the lens replacements done on my eyes, so I've effectively - I've had cataracts starting. I think that's partly because of the medication we have to take, after the transplant. You know, which can make that accelerate. So last year I had both my lenses replaced. And that's - again, I didn't realise it at the time, but that's had a huge impact on making things so much easier. I mean, previously I think I was a minus ten and a minus eleven, my eyes. And I had sort of really heavy glasses [laughing]. Whereas now I'm - I think minus one, and one and a half, so. You know, I can see without my glasses, which was quite strange, having gone all those years not being able to see much at all. But yeah, so that was linked to the Alports as well, so.
Ah, okay. So yeah, with your eyesight issues then, did that then start - what age were you, and when did that start? Could you tell me a little bit about that?
I started with some form of short-sightedness when I was around sort of 14, 15. Whether that was due to Alports, or just getting a bit short-sighted, I've no idea. But the problems really started - I say problems, the issues started after I'd had my transplant. I think maybe two or three years in. Every time I got new glasses, within three or four months they weren't working effectively because the back of my eyes were changing quite frequently. So I was having to - because obviously you have to do it privately, so I was paying quite a lot of money out every year for, you know, a new prescription probably every six months. And every time the eyes were more and more and more short-sighted. So yeah, it because a bit of a, a bit difficult because I couldn't always do - I couldn't always see what I wanted to see [laughing], for a start. And it started - when it really became problematic was when I was driving at night, I was getting quite a lot of dazzling from oncoming headlights. So I mentioned that to my optician, and he referred me then to the specialist at the hospital. I went there, and he said "Yeah, you've got sort of an early onset cataracts, so we'll get those taken off and put new shiny lenses in." And that's what they did, and it's been great [laughing]. It's really made a huge difference.
And how did you know that that was linked to the Alports? Was that then - did the specialist say that, or?
Yeah, the specialist mentioned - you have to be - I can't remember if he said it was linked to the Alports, or the fact that I'd had the transplant. I'm not quite sure which of the two it was. But I do know that every time I went to see the specialist, he called all his team in to have a look. Because I know that the lenses are cone-shaped, in patients with Alports. Rather than just the normal shape. So, so that's quite unusual. And I do remember him saying that the operation would be a little trickier because of that. So normally the cataract operation takes sort of ten, twenty minutes - you know - for one eye. Mine took about an hour and a half. Because they have to do it much more slowly, and the technique is slightly different, I think. But I know my surgeon just found it quite interesting, it was a different procedure for a change. It was no more difficult, it just took a bit longer. But yeah, it's worked fantastically well.
I mean, before the operation my - I mean, obviously - there's obviously a small risk with the op, same as there is for having a cataract, I think it's about two percent chance that you might have a significant problem afterwards. So I was, I wasn't particularly concerned about that. I mean, people play, play the lottery with much worse odds than that. So, so yeah. So I wasn't particularly concerned about it, but I've always been quite squeamish about my eyes. Anything else, you can cut, slice and do what you like. But I've always been really squeamish about it, couldn't put contact lenses in. I tried those when I was I think about 20, couldn't bear it, I had to - you know - I couldn't even let the optician put the second one in, I had to have that one taken out and that was it. Couldn't do that anymore. So I wasn't looking forward to the operation at all. And I did feel slightly ridiculous, because when I went to the waiting room for the operation - because there's lots of people having the operation on the same day, but they're mostly sort of nice old ladies in their sort of seventies. And they'd already had one operation, they were waiting for the second. And they said, "Oh, it's no big deal." So I did feel a bit silly, that I'm a sort of bloke in my early forties, sort of worried about this operation, and all these lovely old ladies are telling me they've just had it and its fine. But the operation itself was incredibly straight forward. Sort of few drops in the eye, you can't feel anything. My, I suppose my big fear - I thought I'd be able to see somebody sort of coming towards me with scalpels and things. You don't see anything like that at all. They shine a bright light in your eye, you're gowned - obviously you can't see anything out of your other eye anyway. They shine a big white light in your eye, so all you can see is white. And you can hear them talking, and they talk you through it and it's really nice, and its fine, it's calm. And then sooner than you realise, they say, "Okay, that's it, it's done." And then you just wear a patch on your eye. Take it off the next day, and you can see. It's - what you can see is a bit wonky for a few days, but once that calms down, it's amazing the difference. Because I can get away with not wearing glasses at all now. The only reason I wear them is because once you've had the cataract operation, you have fixed vision, you can't focus, you can't change focus, so your eyesight at fixed at distance for focus. So I need for close reading. So I wear varifocals now, just to make it more convenient. But I could just wear reading glasses when I need them. But because I'm teaching, I'd be forever taking glasses on and off, which I was doing for a few weeks. I thought 'this is ridiculous', so I got varifocals to make it easier. But yeah, I mean. I go canoeing a couple of times a year, up in Scotland. So I'm particularly looking forward to going this year, because I won't need to wear glasses, which always get covered in water and which you then can't see anyway, so. So yeah, things like that will make a big difference.
So it wasn't as scary as you thought, the operation?
No, not all. I felt ridiculous after the first operation. I just thought 'I can't believe I was dreading that, it was so easy'. So when I went for the second one, a couple of months later, that was just no big deal at all. I didn't give it a thought, because I knew it was really straight forward. So yes, it was surprising, because I was - I was more concerned about having the first cataract done than I was about my transplant. Because obviously when I had the transplant, I knew all about that, I knew I wouldn't be awake while they were doing it, so it didn't really bother me. But yeah, I wasn't looking forward to the first eye operation at all. But it turned out it was really easy.
Yeah, it was fine. And you said you had a second operation? So, what - they do one eye first and then?
Yeah, they do one eye at a time. Just because for about three or four days afterwards, your eyesight's really off. So if they did both, you'd be blind [laughing]. So, so they tend to do one at a time. And I guess also if you have some bad reaction, then you've at least got one eye that's still working.
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.
Many of the people we talked to had not experienced any eyesight issues at all. Karen and Michael X said their families had experienced deafness and kidney problems, but no eyesight issues. People spoke about wearing glasses and having eye issues that they thought were not related to their Alport Syndrome. Angela said she had developed a squint in her eye but said she didn’t think it was caused by Alport Syndrome but was just “bad luck”. Several people said they had short-sightedness. Michelle said her son wore glasses and had short sightedness. Alan said he needed glasses but that his eyes “up to now are okay”. Diane said that she had very thorough checks on her eyes for problems with Alport Syndrome and although she says she has bad eyesight, the doctors had “never been able to find anything”.
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.
Dr Omar Mahroo explains how Alport Syndrome can affect the eyes.
Dr Omar Mahroo explains how Alport Syndrome can affect the eyes.
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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.
Those with children with Alport Syndrome said it was important to have regular eye tests in case there were problems in the future. People spoke about other family members having problems with their eyesight. Debra said that she remembers her dad’s eyesight being really bad.
Frances’ eyesight is fine although she previously worried because there are eyesight problems in the family.
Frances’ eyesight is fine although she previously worried because there are eyesight problems in the family.
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Dr Omar Mahroo gives advice on what to do if you have Alport Syndrome and have eyesight problems.
Dr Omar Mahroo gives advice on what to do if you have Alport Syndrome and have eyesight problems.
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Jayne’s sons have ‘flecks’ but no problems with their vision and the consultant recommends they have annual eye tests.
Jayne’s sons have ‘flecks’ but no problems with their vision and the consultant recommends they have annual eye tests.
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The retina, is it?
Yeah. And they both do have those flecks as well, although their vision's fine. Yeah.
So that was picked up.
Yeah.
How old were they when that was picked up?
Well that was the consultant that said about that. Normally they'd just have their routine eyesight test at school, which brought up no problems. The school nurse does that. And I didn't feel like they needed it checking any more. But it was the consultant that said, "Are you aware of these eye problems?" And he said, "I suggest you go for their eyes testing every twelve months as well." So I just booked in to the local optician, and they send for them both every twelve months.
And they pick that up, do they?
Yeah they, they took a picture of the back of the eye. It was just like they're just really simple - put their head on this thing and just a flash in their eye. And when they've picked - they did show me the pictures, but over the last couple of visits, they haven't changed at all. So I'm quite happy with their eyes at the moment.
Paul and Christine discuss Paul’s eyesight and whether his cataracts were caused by medication or Alport Syndrome.
Paul and Christine discuss Paul’s eyesight and whether his cataracts were caused by medication or Alport Syndrome.
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Emma: I didn't have tests on my eyes.
Paul: But it was one of those things we said yeah, we'd be interested in possibly helping with, but we actually never got into it after that. But I had my - I had cataracts removed when I was what? Early twenties? Mid twenties? I can't remember now.
Christine: It was when –
Paul: It was early twenties.
Christine: Yeah, it was.
Paul: It was early twenties. So I had cataracts growing all the time, because of all the steroids I was taking, etc. And Alports, I'm assuming. But I, we don't know, I don't know exact reasons for that. I know why you get the hearing problem, because of the -
Collagen, isn't it.
Christine: Yeah, collagen.
Paul: Yeah, the collagen missing in the kidney and the ear, it's the same one, from the DNA. But I don't know about the eyes. But I had cataracts growing, and I had those taken out. I had lens, artificial lenses put in. And I've actually just had some laser treatment on the left one, because if you have lenses put in at an early age, fibres start growing across them.
Okay.
Paul: So they've had to blast a hole through that, so that it's clear. It was starting to get all blurry, so I went and got that sorted out. And that's, that's another thing. It's just, it's just a hundred and one things you have to deal with, and - you know - as I say, that's why a dentist appointment is just another pain in the backside. More so than for most people. So that's sorted. So my, yeah - I wear glasses. It's like anybody else so, you know, I don't - you know, that's not a problem. I haven't had to, because I had the lenses put in. But that was just another part of it, so. I don't regard that as - I don't know. I never thought of that as being Alports. I thought of that as being the steroids, which was connected to it, I suppose. Which was a kidney problem.
Christine: Some things are connected in a roundabout way, isn't it.
Paul: Yeah. Yeah. Yeah.
Christine: Because it's to do with the treatment maybe, that causes something.
Paul: Yeah. Yeah.
Christine: Or a side effect.
Kevin was told he had early onset cataracts but is unclear if cataracts occur as the result of having Alport Syndrome.
Kevin was told he had early onset cataracts but is unclear if cataracts occur as the result of having Alport Syndrome.
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Ah, okay. So yeah, with your eyesight issues then, did that then start - what age were you, and when did that start? Could you tell me a little bit about that?
I started with some form of short-sightedness when I was around sort of 14, 15. Whether that was due to Alports, or just getting a bit short-sighted, I've no idea. But the problems really started - I say problems, the issues started after I'd had my transplant. I think maybe two or three years in. Every time I got new glasses, within three or four months they weren't working effectively because the back of my eyes were changing quite frequently. So I was having to - because obviously you have to do it privately, so I was paying quite a lot of money out every year for, you know, a new prescription probably every six months. And every time the eyes were more and more and more short-sighted. So yeah, it because a bit of a, a bit difficult because I couldn't always do - I couldn't always see what I wanted to see [laughing], for a start. And it started - when it really became problematic was when I was driving at night, I was getting quite a lot of dazzling from oncoming headlights. So I mentioned that to my optician, and he referred me then to the specialist at the hospital. I went there, and he said "Yeah, you've got sort of an early onset cataracts, so we'll get those taken off and put new shiny lenses in." And that's what they did, and it's been great [laughing]. It's really made a huge difference.
And how did you know that that was linked to the Alports? Was that then - did the specialist say that, or?
Yeah, the specialist mentioned - you have to be - I can't remember if he said it was linked to the Alports, or the fact that I'd had the transplant. I'm not quite sure which of the two it was. But I do know that every time I went to see the specialist, he called all his team in to have a look. Because I know that the lenses are cone-shaped, in patients with Alports. Rather than just the normal shape. So, so that's quite unusual. And I do remember him saying that the operation would be a little trickier because of that. So normally the cataract operation takes sort of ten, twenty minutes - you know - for one eye. Mine took about an hour and a half. Because they have to do it much more slowly, and the technique is slightly different, I think. But I know my surgeon just found it quite interesting, it was a different procedure for a change. It was no more difficult, it just took a bit longer. But yeah, it's worked fantastically well.
Kevin describes his cataracts operation and how positive he feels about the operation.
Kevin describes his cataracts operation and how positive he feels about the operation.
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So it wasn't as scary as you thought, the operation?
No, not all. I felt ridiculous after the first operation. I just thought 'I can't believe I was dreading that, it was so easy'. So when I went for the second one, a couple of months later, that was just no big deal at all. I didn't give it a thought, because I knew it was really straight forward. So yes, it was surprising, because I was - I was more concerned about having the first cataract done than I was about my transplant. Because obviously when I had the transplant, I knew all about that, I knew I wouldn't be awake while they were doing it, so it didn't really bother me. But yeah, I wasn't looking forward to the first eye operation at all. But it turned out it was really easy.
Yeah, it was fine. And you said you had a second operation? So, what - they do one eye first and then?
Yeah, they do one eye at a time. Just because for about three or four days afterwards, your eyesight's really off. So if they did both, you'd be blind [laughing]. So, so they tend to do one at a time. And I guess also if you have some bad reaction, then you've at least got one eye that's still working.
Dr Omar Mahroo says that treating lens abnormalities in Alport Syndrome has a high success rate.
Dr Omar Mahroo says that treating lens abnormalities in Alport Syndrome has a high success rate.
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Dr Omar Mahroo gives advice to people who are not experiencing eye problems.
Dr Omar Mahroo gives advice to people who are not experiencing eye problems.
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Dr Omar Mahroo talks about the ongoing research he and his colleagues are doing.
Dr Omar Mahroo talks about the ongoing research he and his colleagues are doing.
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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.
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