Home » Eye Diseases » Retinal vein occlusion. Diagnosis. Genetic link to blood clots, thrombosis. 11
Retinal vein occlusion. Diagnosis. Genetic link to blood clots, thrombosis. 11
sdWhat is retinal vein occlusion in children? And how often does retinal vein occlusion in children happens? What are treatment options for retinal vein occlusion? So definitely, retinal vein occlusion in children is a very, very rare disease. And I have a story for that. And it could be useful to understand how in 10 years, we go to a correct diagnosis of retinal vein occlusion. And the first time I’ve seen a six-year-old child boy with a very special eye fundus. It was so similar to retinal vein occlusion in adults. I said, okay, it’s a retinal vein occlusion. They say that’s a very unusual situation. Are you sure? It’s probably something else. I said, No, really, it seems to be retinal vein occlusion because there is disc edema, there is a retinal hemorrhage. It seems to me that it was unilateral. And so, we make a complete diagnostic checkup. And we had many, well, many possibilities of diagnosis. And we found that there were variants of thrombophilia. And they say, well, you know, that’s quite, quite frequent. But there were two variants of thrombophilia. I say, okay, but this is only one case. So just one case. You’re a researcher, but you can’t say, with one case, I have thrombophilia as a cause of symptoms. But for sure, retinal vein occlusion is such an unusual pathology. So it could be a more frequent cause from generally associated pathologies. I mean, like leukemia or all the systemic problems. But when there is a healthy child, you say, okay, we must investigate more to see something. When you see thrombophilia variants you say, there is a problem with the fluidity of the blood. So you have treatment because you can go on low-dose aspirin. Okay, so we have this patient. I had in my department also a very nice pharmacy student. And I say, well, you have nystagmus in one eye. Did you have any problems? And he said, Well, I was 16. And I had a problem. They said that I had a retinal vein occlusion. I said, Okay, well, and can you explain that? He said, Well, we did a large workup, but they said that they found nothing, and so that’s okay. I don’t see any more from this eye. But it’s alright. I say, Can you bring me your diagnostic workup? And on the workup, there were two thrombophilia variants. So there were two patients now. But you know, two patients is not enough. So I’m part of ERN-EYE, a European Reference Network for rare eye diseases. I say to my colleagues: do you have any retinal vein occlusion in children? And no, no, I don’t have that. I don’t have that. And one colleague, a very nice colleague from Poland, said, Oh, yes, I have a patient with a retinal vein occlusion. I have two such patients. Wow. Okay, if you have to, that’s nice. Could you tell me exactly what was going on? I saw the photos of the ocular fundus. And I say, well, that’s, that’s exactly retinal vein occlusion. So we try to get both children, but we had only one child with retinal vein occlusion. And so, we also did the genetic research for the thrombophilia variants. And they were also thrombophilia variants. So the three patients. Well, that’s nice, but okay. Not perfect. And so I was discussing with French colleagues, and one colleague said, Yes, I know someone. Oh, she is a 17 years old girl. One. I think she had that. So I saw the girl. And well, I tried to see the girl and the parents say okay, she is studying in Spain. So they said, don’t worry. I will be home for the holidays. I will be free to see her. I was expecting her, and she didn’t come so we’re just very disappointed. And just called the parents. The parents say, okay, well, the problem is the grandfather just passed away. Or I was so sorry. And they say, okay, no worries, just come back when you have time. So they come back when they had time. We just explored the diagnosis. She had the same thrombophilia variants. So we have four cases of retinal vein occlusion caused by thrombophilia variants. So that was nice. And we were discussing it with her father. He did not have a problem with his eyes. But he had the problem of phlebitis. So really, it was good. So we put all these children on treatment with low-dose aspirin. We wrote a scientific publication. And after the publication, one colleague in France called me, and they had one case of thrombophilia variants. So sometimes, you have in mind some specific problem. And so you try to solve it, and you say, okay, I’ve individualized this problem. And so now, we’re just working on other patients with thrombophilia variants and retinal vein occlusion because it could be very interesting also to understand that. So really, that’s a long time, ten years, but it works. This is a very interesting illustration of the fact that sometimes a diagnosis, so the people did get the diagnosis, retinal vein occlusion. Here you go, you know, this is your diagnosis, but that’s not just the diagnosis. It’s a symptom behind which is a systemic problem that can manifest itself in other ways. And blood clots can happen not only in the retinal vein but in the lower extremities. Blood clots can travel to the lungs that can cause pulmonary embolism with a high mortality rate. And blood clot problems can have implications also for the other members of the same family, which could have this thrombophilia gene, you know, affect that this genetic variant or mutation. So sometimes, there is a diagnosis behind the diagnosis. It can be completely hidden. That’s true. Thank you.
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