Aniridia genetic diagnosis, prognosis. Patient story. Mother and child aniridia. 10

Aniridia genetic diagnosis, prognosis. Patient story. Mother and child aniridia. 10

Aniridia genetic diagnosis, prognosis. Patient story. Mother and child aniridia. 10

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What is aniridia? What is the treatment option for aniridia? And what is the latest research aniridia of the eye? So congenital aniridia is a rare disease. But at the contrary of the term, when you say aniridia, you say, "okay, there is no iris." But aniridia is a panocular disease. [It affects an entire eye]. It is a developmental disease. Aniridia is a very interesting disease because it can be a model to understand many other eye diseases. And in aniridia, we have done a lot of research. We have a European program that has been accepted. We have done much research on aniridia. So we have research on aniridia that shows the mutation of the PAX6 gene to recover the protein PAX6. So there was a first clinical study of aniridia therapy with ataluren. Ataluren is quite a gene therapy also because it creates a jump over stop codons, and so ataluren recovers the nonsense mutations. So you can recover a protein PAX6. There was a clinical study that showed positive trends after oral therapy with ataluren. But it was not enough for approval of ataluren. But we also developed ataluren as eyedrops. We think that for the cornea, it could be very interesting to recover the transparency of the cornea. Recovering the PAX6 protein can be possible. Also, as I said, you know, phenotyping of aniridia is very important. So, if we have a good phenotype of aniridia patients, we have around those 350 aniridia patients. If you get a good phenotype [disease signs descriptions], and if you have done the genotyping, you can maybe go further to prevent more problems in aniridia patients. Some aniridia patients have more problems in the cornea, but other patients have more problems with glaucoma. And other aniridia patients have more problems with macular hyperplasia, which is more important but could be sometimes light. So a good phenotype with a good genotype in aniridia could be very interesting to match patients with the right therapy. It would make a better prognosis, preventing complications for these aniridia patients. That is very important because of the recognition of aniridia. It is also determining the correct way of aniridia treatment and diagnosis. As you mentioned, it depends on the phenotype. It depends on the correct description of the symptoms and doing the right diagnostic tests to really see what's going on with that particular aniridia patient on an individual basis. This is a very good question. Of course, I have a patient story, and it is very short. It's about congenital aniridia. It is an underrecognized eye disease. And I had a patient with aniridia. She was a woman of 35 years of age. She had in only one eye a coloboma of the iris. And she said, "well, they said that it was like this. And so it was okay. Well, I have very low vision, but nobody asked me for some special diagnostic tests. Okay, all right." And was she just married and had a child. The child had complete congenital aniridia. And it was a PAX6 mutation. It was both in the child and this patient. In this patient, the PAX6 mutation-related disease was not recognized. So she was not aware of having a risk of having a child with a complete congenital aniridia, with severe problems. So this patient was not aware of the risks of having a child with a severe aniridia disease. And those that are important to make the diagnosis. Sometimes partial aniridia is difficult to diagnose today. That's why anterior segment dysgenesis must be referred to the specialized eye centers because experts can go further with the diagnostic exploration. Then experts can have a discussion and follow up with the general practitioner. But I think this is very important to establish the correct diagnosis because the patient must be aware of risks and understand that they can have a child with severe disease. If the aniridia disease was recognized in this 35-year-old woman earlier, is there anything that could have been done to prevent the disease in her child? So is it a matter of genetic testing and potential selection of embryos who do not carry the mutation? Is there anything else that could influence the outcome? Of course, if you recognize the aniridia disease early in the patient and when she is pregnant, we can have both possibilities. We can select before the pregnancy to select the embryo without the PAX6 aniridia mutation. So that could be a very good option. I have some aniridia patients that did that. And also, we can see pregnancy interruption if the parents would like that. But of course, this is an option that could be very useful for parents with aniridia. But parents must know the possibilities, and so they accept, or they don't accept options. That's why timely diagnosis is important. Right. So it's, the decision could be more informed by knowing the diagnosis. And that was, that's a very important clinical story. It is an example of getting the right diagnosis at the right time. Exactly.

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