 I just pulled up this table from the BSCSE because I feel like this is probably like the worst possible way to try to study it's like an overwhelming list of things. So that's kind of similar to trying to learn birding. We just put them all together in one big poster. All these little loud birds look the same. I just put this photo in here. This is a photo of myself in med school slash grad school just reminds me because I entered med school with bad grades. I was assigned a studying coach, which actually was really helpful in that she taught me some things that I didn't really know about memorizing things. She said always group things in three to five, use repetition with increasing intervals and give yourself explanations for why things are the way they are. So humans can only remember about three things. That's why we have life, liberty and pursuit of happiness. That's why Obama and his speeches frequently uses the rule of three. So this is a photo of a dog with a vacuum cleaner just because it reminds me of how I taught my dog to tolerate the vacuum cleaner is actually kind of similar to how I tried to memorize things in medical school. You know at first I just turned it on for like five seconds and I had to do that multiple times a day. Then once he got okay with that, then I was able to turn it on for longer and do it like once a day and once a week. But then sometimes if I went too long without vacuuming, then you would forget how to tolerate the vacuum cleaner and have to start over again. You can use those increasing intervals as your familiarity increases. This is just a reminder that humans remember stories. So when we read this really boring article about deforestation, we don't really take away anything. But when we read the Lorax, we all remember that trees are important. So I just try to give myself explanations of this is why it is the way it is. So as far as the, oh, I, oh, at this point, let me just show you. So I feel like my brain is kind of like my computer. If I don't organize it, I won't be able to ever find anything again. I say Lin Hwang. Yes. Oh, okay. You're in the lobby. Okay, I'll have BK go out and meet. Thank you. I'll get the burger can. Okay. So I just wanted to show you, like, you know, I feel like I can't remember everything. So I try to organize, like, for example, all the papers, you know, that I've read, I try to file them away in PDF form so I can find them again. Anyway, but I try to organize my brain too. So the way I've chosen to organize these disorders is by their ocular phenotype. You guys have come up with some really great ways to organize and link these diseases together as well. So we can try to tie that in as we go. So there's the things that look like RPM also lumping some cone rod type of fetid bullseye, you know, maculopathy type of phenotypes in there as well as LCA like really severe, like when you're young nice type of issues. I also put the macular palms together. I don't know if you've seen this drawing before. This used to be the default of what Epic thought the macula looked like. So you're welcome to help yourselves to breakfast while we talk. And then fundus type of treatment. So things like albinism, myopia and retinal detachment, purple and non-perfusion. And then another there's always things that don't fit. So we'll start with the biggest groups. The vast majority of these inherited diseases that affect the retina and the rest of the body was phenotype that's like RP, LCA or cone rod. So since there are so many of these diseases, I've kind of subdivided them as well as made some gross generalizations about all the different. So gross generalizations. So a lot of these are enzymes. And the enzymes, if you have like half of the amount of enzyme, there's so much excess enzyme, it's looking to like do its job. For example, enzyme that's supposed to degrade, you know, this thing. Then if you have half of it, it's still going to be great. But it has none of that enzyme. So that's how I remember that both of these diseases are autosomal recessive. And another way to remember that they're recessive is that a lot of them are really pretty bad for your health, not just your eyes, like everywhere. And therefore, like if this was autosomal, it wouldn't make sense for it to be autosomal dominant because you wouldn't then pass on your keep passing on that gene. It always survives in those people that are heterozygous. Those are the ones that are reproducing and then passing it on. A lot of these diseases have really significant neurological problems, either neurodegeneration, death, like batten disease, or just kind of developmental delay. So the way I categorize these is by the different parts of the cell that are affected. So I think, oh, right, we're going to split people into teams. So let's see. So you do this half and then this half. Okay, I'm going to call this. They have Mvarex. Mvarex. Is it not a good grouping? There's too many people on this side. We have branded. We should actually put money on the line. What if we do like front row and back row? We'll do front and back. Okay, so we also probably need a band of white to keep the score. Is there any volunteers for that? I don't know. Abigail's volunteering to be a band of white. Do you want me to put it on the board? Yeah, so we're just going to have fun. Yeah. All right, so anyone have a guess as to what this red organelle is here? This is Cecilia. Oh, all the answers. Points. Okay. All right. How about one of those? She gets a point. Yeah. So how about these other organelles I'm trying to depict? How about the blue one? What do you think I tried to draw there? I don't know. I'm going to powerhouse this up. Money. Maybe Tyler was a lot louder so you can give the back a point. Can we just yell it out? Okay. Read the back of this. And how about these other two organelles in orange and green? Any guesses? Laces sounds. Laces sounds are made. danger. What else? Okay. All right. Tony got the process. That was the loudest. And then how about this? Like weird thing that I put there at the bottom. Like. I might be trying to illustrate there. Okay. I'm trying to illustrate there. Like L. Yeah. This is BLBL. So these are the different categories. Celia. Lysosomal storage. Proxies of biogenesis. Mitochondria. BLBL. Okay. So before we, we're going to take a break from the lecture part. And then we're going to go into kind of the world words practice. So I need you all to get onto box. On a device. You can take a break from your Vanoite duties. So you shall go on to box. And you should be in pairs because you're going to test each other. If you get onto. Box. You'll see that I've shared with you a folder that's called. Maybe Lucoria cases. Don't open any of the cases yet. But make sure you can find that. Did you guys. I'll find the. Lucoria. Could you share that with. Okay. Oh, yes. I should do that. So one of you is going to be the examiner and one of you is going to be the. Examiny. And then you're going to switch. So. And then I'll have you guys open up. You know, I'm going to be the examiner and then I'm going to be the. And then I'm going to be the examiner and then I'm then I'm going to be the examiner and you're going to be the examiner, I'm going to be the examiner and thenings on the next way and I'm going, do. I'll have you guys open up. You guys will start with case one, you guys will start with case two, you guys will start with three or five like that. And then he'll just once you've done one, you'll switch positions like with each other, like whoever was testing will then be the. Get tested and then you'll you'll can move on to the next case? Anyone else need access. So I think you guys were all about correct. What I read on the website is that I said you'll cover 14 cases in 50 minutes, so that averaged about 3 and 1 half minutes per case. I look like they're going to give you an opportunity to do seven cases. They used to say, oh, there's 10 total, and you just get through as many as you can to pass, but it looks like they've changed it. So I think one major question I had before oral boards was how much back and forth are you going to have with the examiner? Are they going to be stone cold where they don't give you anything, not even a facial expression? Oh, maybe I should be taking my mask off to talk. Anyway, but in reality, they do want to help you. So they might interrupt you and move you on. If it seems like you have this down cold, they might just tell you to move on to the next case because they feel you've already demonstrated enough to pass. And they may also try to redirect you if you're getting off track. So I definitely had the experience where there was this really, really terrible picture, and it looked like there was a speck on the picture. And I assumed that was just a speck. But the examiner told me it was supposed to be an IOFB. But other people taking it that same session were not able to know that that was an IOFB. So anyway, so it's really variable depending on the person. But they're not going to give you a ton of information. As you ask about the vision, they're not going to tell you what the visual acuity is because they don't have that information. They have the information that you do, except for what's the correct answer and what things you should list about it. But also, if they keep telling you all this information, that's going to waste your time. I had one examiner who, it was clear to me based on the fact that the head examiner kept going in and out of his room, where he was taking too much time. And candidates were coming out late where they were trying to do an intervention on him because he kept giving you all this information. Then it was taking eight minutes to do one case. And it's like, no one's going to pass if you don't get through all the cases. So that's why there's not a lot of back and forth. And usually, the cases are such that you should be able to guess what's the top diagnosis just based on the information they give you. You won't have all the information, but just guess what's the top and go with that. So you did this. So I'll give you three minutes for the case. And then I'd like you to give your co-resident some feedback. So this is my preferred format for the answers. I don't waste a lot of time because you have that limited time describing the macula and the vessels and the optic nerve all appear healthy in the right eye and then the left eye. This is a fun color, but this photograph, that's going to waste your time. Really focus on the main things. There is optic nerve edema with the obscuration of all the vessels on the optic nerve head in the left eye. As far as the differential diagnosis, I prefer to put it front at the top right at the beginning because that helps me remember what questions to ask what things to look for on the exam later on. But some people put that later together with the most likely diagnosis. So you don't need to be like this kind of image and describe it. I didn't do that at all. I just said this is optic nerve edema. Yeah. Was there? Yeah. We only spend way too much time in FAA. I know. This is not right. But maybe you need to stall because you're like, I have no idea what the differential diagnosis for optic nerve edema is. Then you can spin out that stuff while your brain is working. But I can't really talk and think at the same time. So anyway, I need other questions about this. And then we'll get started. OK, I will hopefully have time to run through work cases. So is it my end is the format that you are not in all of us and told you that at some point? But it's the format that you have the case beforehand, like before you walk into the room or you walk into the room and then they present you the case. So you get in the room and then they have like an iPad and then they pull the case. And then once you're done with that, then they pull up the next case and the next case. You don't have time to think about it without them there. OK. All right. I was going to do one practice one. OK, who wants to volunteer for the practice one? You'll get a prize. I can do that. OK. All right. I'm going to give you the prize right off of that. You get to choose the finger puppet. You must be very low. That's a good need to pick one for her though. I get the count. All right. So here you go. This is a two-year-old female whose parents have noticed has a left exotropia. OK, so you have one of those both eyes and then the left eye you see macular dragging with straightening the vessels as well as a kind of fibrous scar moving from the optic nerve temporarily. So my top three differential items would be persistent fetal vasculature, fever, or ROP. And so additional history you want to know their birth story, if they're premature, if it was a complicated birth. They were not born prematurely. You would want to know any sort of visual activity they're noticing in this eye. You want to know family history and any other history of eye issues or genetic eye problems. And then for exam in a two-year-old, you want to see if they can read any optotypes or letters or fix and follow in that left eye, especially pupils, pressure, full dilated eye exam. And then ancillary studies, you probably want a exam under anesthesia and FA. As well as OCT to look for any leakage, which would help you differentiate between PFB and fever. And then blood testing or a cheek swab for genetics. And then I think my most likely diagnosis would probably be PFB and then prognosis discussed that the vision likely will not develop normally in this eye and the patient will have amblyopia. However, if it's PFB, it shouldn't be highly progressive and it would be a unilateral disease. Whereas with fever, there's potential for involvement of the other eye. OK, great. Wonderful. I think you were definitely within time and you really hit the major points. I'll just show you the slides I prepared for the examiners for each case. So there's the top differential. He got it right there. Family history, prematurity. Those are key points there. I guess you kind of alluded to the FA and whether the other eye is vascularized or not. Usually PFB is unilateral. So the other eye will be like totally normal. Whereas in fever, it's usually bilateral but can be really asymmetric. So there may be just like non-perfusion in the other eye. And the OCT does help to look for retained inner layers in the phobia as a clue to fever. And then to really evaluate for PFB, it helps to get a, and distinguish the PFB from the fever. It helps to get the axial length because oftentimes that PFBI will be shorter. Whereas the fever, they'll be the same size. And then also to look for elongated ciliary processes. So there's the genetic testing as he mentioned. And then, yeah. So, and then I just added an extra thing at the bottom for extra pimping if you feel like you want to give that to your co-residence. So, okay, so I think we'll get started with this part. So you can each, I think it was like one, two, three, four, five or something like that. So you can figure out which one of you is going to be tested and test, be the tester first. And then we'll just, I'll let you know in three minutes is up. One of you needs to look at the examiner. The other needs to look at the examiner. It looks like they're right. We need two left out. We need to look at the scar. The left eye can only have. I can see the object here. The vestibule is kind of straight forward. It's a little bit easier. Maybe that's for the retina. So she went on. As well. You're just going to be able to see the, you're just going to be able to see, like the, like the, the, the, I would say, I'm just, like, I'm just, like, I'm just going to be able to see. I think that's the, the, I'm just going to be able to see what it looks like. Those are really, you know, it's not, And I want to know what visual symptoms are wrong. They have developed over the last few months, what kind of visual behaviors they're seeing. Next. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. Exam. I think that this is a, um, I don't know, they're only six hours. Uh, should I, should I give her a condition when she is unlikely that the eyes will develop from the motion of that, right? And we didn't force it. And it's ability to see well if the cancer is out of here. Okay? As well. But that, it might, I might benefit from some reason that you've asked the first two minutes of the production. Okay, two minutes is up. Okay. Also you can discuss and give each other feedback. That's why I don't put it on their show. I just think that you don't have to give me a code. Is that, is that like five or six years of this reflection? I don't know. I just like, I can tell you, I can tell you that I like had it all in my head. I didn't do the job. I'm not the shape. I'm the shape. We can just, We can just move on and see. Maybe it's not as easy. We're just, we're just, we're just going. Let's go ahead and photograph. Yeah, you can, you can, are you guys ready to start the next one? Or, oh, we're just, Are you guys ready to start the next one or oh there they're still going because they're You think yeah, you are you guys ready to start the next one? Okay, technical difficulties All right start the next one down We did This is for... I'm ready. So, for... Take sure I'm not going to make a question. How easy is it to... Oh, that's a good... You have a thing, close examination. Oh, okay. External photograph of... of... which shows... and then... be spasperized... for lateral membrane and long insular processes. Okay. Top three differential items would include... both eyes, especially if this is a retinal detachment. P.F.P. Enter your P.F.P. Retinal blastoma... P.P.P. P.P. P.P. P.P. P.P. P.P. Especially... family history... uh... to give a... examination besides this... P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. P.P. So you're probably having a bad concern as for the noses, or just to talk about how the interest is developing in the affair, and it's fine. And that's something that they don't actually know. They also can't say that the post-report is relatively low. So what is this? So I guess it's a very, very bad concern. I don't know. I'm not sure about that. Searching for a profit membrane. I guess I'll take that. Well, there will be scandals. I mean, it's not true. It's connected to the left. Yes. I just want to show you. Okay. Which is kind of a short one. Let's explain that. Yeah. Yeah, you guys can just keep going back and forth. I mean, you do like to do an argument. It looks like it's passed. It's probably got it. It looked like it was there. Oh, yeah. Yeah, yeah. That's why I kept thinking, like, I'm thinking. Yeah, it looks like they're posted. It's kind of interesting. So where is it? That's I should say. When it sounds like it sounds like when you get in. It's the slow, dramatic. Just keep them bra. Okay. What did you feel when you got into bra? Well, I did. I did operate on that. Yeah. It was all three. Yeah. I was like, I was like, I was like, why is it? Now, you're in the right direction. So you're not. You're in the wrong. I would like to know what the vision was like before this one noted or by the vision you're like to have, you know, vision, pressure. I was like, this looks like it's going to be super. I did think it was the one you were talking about. I was going to say, I'm likely to probably have a look at the shoot about. What's that? Oh, it's like, oh, so this, I've definitely just addressed that. I'm going to try to do surgery and get some better anatomic compensation to be able to prevent. This is here. So we got a new year old boy. What photo? I was just going to tell you what I'm going to do. Look at that. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the right eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm going to do the left eye. I'm currently focusing on the ones that give a more RP-like phenotype versus the phenotype of those other ones. So what does NCL stand for? I know the C stands for seroid. Maybe lipofusion. Why should we care about diagnosing baton disease and distinguishing it from just RP where it's only going to affect the retina? Sometimes it's one of those things where it can kill the kid and they might present to your eye clinic and you diagnose them with RP. But that could be the first sign that they're going to have experience with this neurodegeneration that will eventually lead to death. What's the inheritance of NCL or baton disease? Yes, autosolorecessive, just like many of these disorders. So the mucopolysacredoses are expert here. And then the other things are alplamanosidosis, which is like aminopolysacredoses and then cystinosis. So in the mucopolysacredoses, what is building up? Glycosaminoglycans. And then how about cystinosis? What is building up? And then do any of these have non-autosolorecessive inheritance? Yes, hunter. We all know that from that school. Okay. So I just put this picture up here because the baton disease causes more of like a bullseye maculopathy, but it can cause more diffuse retinal, like RP like picture. And then these are more like a typical. So let's talk about the systemic problems. We talked about the neurodegeneration of death. How about the mucopolysacredoses? Do they experience kind of neurological problems? Yes. Yes, they do. And then what other problems do they experience? I don't know if those are fatal. Someone else might. Facies. Of course, facies. Yeah, so let's talk about the other eye problems. So I put up a picture which up here, over here, which disease do you think this goes with? Sure. Mucopolysacredoses. And then what other eye problems can these mucopolysacredoses get? Think your word for it. That they kept blood and sopastification. What other problems can they get? Hunter can get exoptalamus. Exoptalamus and Hunter. So they also get optic atrophy. And here's some picture of cystine crystals and the cystinosis. So we talked about the neuro problems in all these diseases. Does cystinosis have neuro problems? Not really. And then we talked about the differences between, you know, where bat and disease can lead to death. This is the picture I chose for death. And then we talked about the porous facies. And basically I just grouped the alpha-manosodosis together with the mucopolysacredoses. Systemic problems, I heard kind of mentions of this do cystinosis patients get? Kidneys. RTA. What type of renal tubular acidosis? One, two, or three? Two. Excellent. This comes up on opto questions like three times and I would always get it wrong every single time. Okay, what kind of electrolyte abnormalities in the blood are characteristic of RTA type two? How about potassium? Is that what's on time? I don't know. I have to look at the answer. Phosphate? Phosphorus? Such confidence. Low K. Okay, low K and low Phosphorus. I'm going to raise that point. Take my five for that. If you answer with confidence, you're wrong. If you answer with confidence, I believe you. Don't ever get too strong answers. I'm like, yes, that sounds right. You should get points for the confidence. All right. I feel like you guys probably remember more about this than I do. And then the dorphism is because the low Phosphorus causes to break it. Okay. So what is the difference between like cystinosis and homocystinuria? So in terms of like the retina, we just talked about what kind of phenotype does cystinosis have. Yeah, RP like phenotype. And then the anterior segment, what happens in cystinosis? And then in the rest of the body, we just talked about the renal tuberositis. How about homocystinuria? What happens in the rest of the body? They want you to like make sure you know of clots. Yeah, clots. Okay. And then what happens in the anterior segment? Lens dislocation. Lens dislocation. Like if you're taking this person to surgery for their lens being dislocated, you need to make sure you have an accurate assessment of their preoperative risk and what you need to do about it. So homocystinuria can create like a bullseye type of maculopathy. What is the pathogenesis of homocystinuria? What is the protein that's affected by the mutation? I think this came up on test. There's always, I wouldn't have it here. It looks like a cystin, cystothione beta synthase, which converts homocystine to methidine. So basically these people can't break down that homocystin and it builds up and it's homocystinuria, as opposed to the cystine building up in cystinosis. And then what direction does the lens dislocate? Down and in. Down and in in homocystinuria in contrast to Marfan, which is up and out. Okay. She's giving herself two points for that. Marfan is going to play. And then what's the treatment for cystinosis? Cystiamine. Someone said something else very confidently about cystinosis. Nothing more said. She's just going to kill for it. I say words. I think I have the right word. At least I say words. All right. So, all right, we covered Celia. We covered, like, the social storage. We're still in that RP, LCA, LCA, cone rod type of thing. So next is peroxisomes. Are you okay there, BK? No. Okay. So what do peroxisomes do? Break things down also. They also break things down. What do we mean by biogenesis? We mean, like, so the peroxisomes degrade the lipids, whereas lysosomes degrade, like, all sorts of different things. And then as far as biogenesis, we just mean, like, the function of the peroxisomes is affected, that either they're having trouble protein or they're not getting their proteins in. So tell me about these peroxisomal disorders. If someone can name one of them. Zellweger. Zellweger. Very good. Yeah. Neonatal, adrenal, legal, local dystrophy. Very good. So basically, those three diseases are all kind of on the spectrum of Zellweger syndrome. Infantile repsome disease is also together with that, whereas adult repsomes disease, instead of, like, affecting all of the peroxisomes, it's just one enzyme. So it's not as bad as having, being not able to degrade any lipids. It's a less, it's a more minor thing, and that's why it occurs during adulthood, whereas these, what kind of systemic findings occur with Zellweger syndrome? Neuro degeneration. Neuro degeneration. So it can be pretty bad. And then another word is a serirohepathomeanol. So those other organs can be affected. And then there's increased phytanic acid. Is the book saying to restrict the intake again? Yes. It's confused me because, like, over the years, initially it said to, and then it said not to, and then how it says, and then... It says something like it will change the eye, but it will help with the systemic or something. Land region. What? Okay. Both restricts phytanic acid. I don't know if they could die. It's a different piece. So restricting the intake of phytanic acid will help the body, but not the eye. But we're still going to do it because we want the kids to live. Even if their vision's not good. Sorry, I just showed you the answer. What happens in adult repsom disease for the systemic findings? Ictiosis. Okay. So now we're done with lysosomes, proxosomes, cilia. Now we're going to be on to mitochondria. So mitochondria provide energy, ATP. What are in general some systemic findings of these mitochondrial disorders? Fatigue ability. How about ocular findings? How about the ophthalmoplegia or CPEO or chronic progressive external ophthalmoplegia? Oh, and they also have hearing loss. I think of maybe the ears, you know, require a lot of energy too, just like the retina. And then in CPEO, you get this really bad ptosis. And then you can see that all those, she's trying to look different directions. Her eyes really aren't. Yeah, they're not. They're not. They're not. So why don't we name some mitochondrial disorders that cause the RP like phenotype? Pernser. Pernser. I think CPEO, maybe it's like, it's kind of like, yeah. Pernser. Pernser. Elos. Elos. Very good. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Nerve. Right. Encephalopathy, lactic acid, acidosis, and strobe. What does MIRF stand for? M is often means the termally inherited as you get your mitochondria from... Encephalopathy and ragged red fibers. Encephalopathy and ragged red fibers. Okay. T. How about, how about NARP? Neuromuscular weakness, ATX, CL, and RP. T. Neuromuscular weakness, ATX, and RP. BK is earning a lot of points for the backbone there. Don't count it. Okay. How about MID? DEFNESS. Maternal inherited diabetes. DEFNESS is heart. Diabetes. Diabetes, yes. Okay. Excellent. Oh, just kidding. The M's didn't stand for maternal. And then the MIRF was myoclotic epilepsy and ragged red fibers. Wrong. Close. Ragged red fibers is in there. All right. Okay. This is just a picture of heart block. Okay. So A beta lipoproteinemia. This is where I put a picture of the VLDL there. ApoB is one of those things that makes, is really important for making the VLDL. And there's fat malabsorption neurodegeneration. So supplementing fat soluble vitamins. It's key. Okay. Let's take a break from this. I don't think we're going to be doing on time. We're doing okay. All right. So we're going to do some ROP cases. I don't know if you guys want me to like take a break and like move around or, I don't know. Yesterday I was like doing a clinical study exam on a six year old. I was trying to get his OCT. So I just like, I would do one OCT and then had him like spread down the hall. And then I was really, he was really good at like holding still for another 10 seconds. Sorry. I just have a second. One person taking a break. Anybody else? When I was in high school and I used to fall asleep in class, my teacher had me do push-ups. Wow. That was a lot of work. Okay. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Hold on. Okay. Okay. He's talking... Yes. For the day, or in class for the weekend, No, for the weekend. Most of the room. One day was like five sicrs. Oh. Oh. It's alright now. Yeah, exactly. How do you tell? It's the baddest plus. Look at the phones. It's the first plus. Ah, this one. I'm going to do the second one. It's pretty cool. The way I do this is not bad. It's the same thing. It's the same thing. But that would completely screw your score. If you're like, I think it's pretty plus and not plus. I'm saying that they don't like That's the big thing. You're cheating. That's the biggest thing. And the other thing is I kept getting every time I thought it was zone 3. It's always zone 2. Well, they showed all the names. Yeah, I only saw the temple side. I didn't see any cases like that. There were a couple of them. There were a couple of them. I did like 1, 3, 3 and then split 4 and then 5. I didn't do it all at the last session. It was kind of fun. There's like... Oh my god, I know a little bit of that. I know. I know. Let me keep coming. She loves that. She was like, oh no. Do I like Pete? These are my favorite texts from Catherine. Do I have a friend? Should I have done Pete's? Literally last night she was like... I don't know what to say about what she had. Well, she was always like I can't see between you. That's why I'm doing a fellowship. These cases maybe will kind of like just go around calling on people. It's not going to be like a formal or it's format. I didn't realize I had put my mask on at some point again. I can't help it. Because I gave the other part of the lecture all with my mask on too. Alright, so RFP. Let's just start at this end of the room with Lydia. Lydia, your neighbor you're on her walk and your older neighbor asks you her granddaughter was born at 32 weeks and 4 pounds which is 18-14 grams. She's very chatty so she knows what you do and you know that premature babies can have serious problems so she wants to know should she ask you to go examine your granddaughter at Primary Children? Does she need an eye exam? No, she doesn't need an eye exam. Because it's a child phone. Would you recommend an eye exam in the NICU? So she doesn't need an eye exam. She doesn't need an eye exam. So she doesn't need an ROP screening exam. So what are the criteria for ROP screening? 1500. 30 weeks and 1500 grams. Excellent. Okay, Abigail, so the NICU is receiving a transfer patient who was born at 24 weeks and 700 grams. He is now 29 weeks and has not had any eye exams. I think it's like at the equivalent of 30 weeks. Well, it's going to be like now and it can't be later than 6 weeks. From birth or whichever one comes first, right? Either way, this will end up 30 weeks. So either way, it's next week. So it's 31 weeks. The table, there might be different answers, different places, but this is like the AP recommendations 31 weeks. BCSC says it's like 31 weeks or 4 weeks after birth whichever is later but cannot be more than 6 weeks after birth. Okay. So that covers like these 22 and 23 weekers to have an earlier exam but everyone else getting them at 31 weeks. So but if you're born later, then you're not going to get at 31 weeks. If that's, I don't know, I'm not explaining well. Okay. And then Ali, at what age does a 28-weeker need their first ROP exam? So I think it'd be 4 weeks, right? Because that would be later than 31 because it's later that 4 weeks is 32 weeks, which is later than 31 weeks. So why is it like this? Like what's the explanation for these? Like, you know, it has like a kind of a usual time course after the kids born. They like get exposed to all this oxygen which shuts down their blood vessel development. And then like after some time blood vessel development resumes and that's when it can go awry. But there's that time. Okay, so let's go on with the Wow! So this picture on the left is the current eye exam and then it's solved. Wow! You're sure it's in treatment? It's in stage 3. So I'll call this zone 1. And then what do you think of like the time course of how quickly this has gotten worse? Is that faster? Faster. It looks like they had no ROP in that area and now they have this like raging states reason to your word at home. I just don't call it aggressive nations where they get exposed. There's so many definitions that they've like kind of like combined them all into one, but it gets worse quickly. Sometimes there's plus disease out of proportion to the amount of stage 3. Sometimes there's flat new vascularization. Sometimes there's shunts developing posterior. I think it's like the definition is unclear. That's the latest version of eye crop just kind of holds everything together to one. What do you think of this? Do you think this is like what stage do you think this is? Yeah, so well, so it looks like stage. Yeah, I think it looks like stage 2. Yeah. Probably. I was so too. I was so too. I was so too. I was so too. I was so too. I was so too. And then do you think there's plus disease? There's no plus disease. Okay, so what do you think we should when should we examine this child next? So I guess kid has stage 2 and feel cute. We'll examine the kid in two weeks. So let's talk about when to treat her. She took her like an hour to make that last night. She kept redoing it. She made it last night. She's the rest of her time. Did Catherine send this to you last night? Catherine sent me this. She kept making it over and over and over again. And then she would quiz me to make sure I could like read the key right. Well, I still feel confused. Like what do these squiggles mean? That's plus disease. Because it's plus disease in zone 1 and then plus disease in zone 2 with stage 2. Oh, she's like. Why is there this long line, and she's like. I give what you're saying now. She was doing too much. Okay, so in zone 1 we treat if there's either stage 3 or plus disease. We just saw a case which is like, I think many times the case that there's both raging stage 3. But if you just have plus disease there could be like this flat envy that you can't really see. So that's why we would treat that. And then I guess you could also have stage 3 without plus disease. So we would treat that too, because that's all pretty bad because it's right there threatening your vision. And then in zone 2 the key is that you need to have plus disease and stage 3. So Sean, let's say there's like a really sick NICU baby and like the NICU nurses are like, don't touch her, she's going to die. You know, can you just like take a two second look at just the posterior retina and determine if that kid needs treatment? I mean, you should be able to see the extent of zone 1 with a 28. Yeah, I think you would be able to see zone 1. And so if you get to zone 2 any disease without plus it's going to be observation. So if you're just looking at that zone 1 you can figure out if there's stage 3 in zone 1. And then you can see the poster pole vessel so you can see if there's plus disease. If there's no plus disease even if you can't see they're in zone 2 and you can't see that vascular junction you don't need to you know you don't need to treat them but I probably see them again in a week so you don't know what's working out there. So, very good. Okay, how about this Marshall what's stage is this? So, it looks like you certainly have some bastard dilation maybe a little bit of tortuos maybe I'd give it plus Okay, Marshall's going to give it plus. And then zone 2 I think I see some areas of envy I think it's zone 2 stage 3 zone 2 Yeah, okay. So he's calling it stage 3 zone 2 with plus disease so would you treat? Yeah, but like 3 plus versus plus How about if this was what if Mubarak is saying hey this looks like stage 2 to me it doesn't really look like stage 3 to me it looks more like stage 2 I believe stage 2 zone 2 with plus disease you would still treat it so it doesn't matter if Mubarak's right or Marshall's right but we're probably who knows who's right you know if we determine it's plus disease then we know we know we're going to treat but the plus disease determination is quite difficult so I'll tell you what I do is I look at I like these photos I like to look at the photos from iCrop look at this is the most recent one just came out at least their red cam photos so not those like old cryo-rop photos where you can only see like the optic nerve so this one they called it mild 3 plus this one they said 3 plus this one they said 3 plus and then this one they called plus and then also sometimes I go to this website this iRop website which I put over here and then they also have examples of 3 plus Do you feel like the dilation is like makes it plus they specifically addressed this in iCrop and said it's everything and it's not can scleral depressing yeah so the question is whether sclerally depressing the globe can cause plus disease so there are people that say you should look at for the plus disease first before you start bashing around what I've noticed is actually sometimes the opposite can occur like kid has facial demer whatever that like alfanzo is like so tight compared to their tiny little helpable fissure is that you're squishing the eyeball and like cutting off blood flow and it looks like they have like vascular attenuation but then if you like let up oh it looks like they might have plus disease so I just wanted to show you I just wanted to show you that in the iCrop they put this like thing that they recognize that basically there's a lot of different opinions on plus disease so they kind of like had a panel of experts and they surveyed them in terms of how many and then they showed the pictures how many of them thought it was plus disease so on this like red was like everybody thought it was plus disease green was like nobody thought it was plus disease and then in between like there were various people so yeah and that is critical because that determines whether or not you treat most of these kids are in zone 2 yeah so when you're doing like a inter and intra observer study like this how what are you choosing or how do you compare it to what is considered right well their point here is that there's no right well but maybe for the ones on the very end there is a right and then the ones in between there's just a so the picture earlier which is a 3 plus or plus who knows you get to decide how are you treating it you want to treat me almost just like deciding if they want to treat this kid or not and if you want to treat they'll call it plus disease I'm not going to say that doesn't happen I had another question there have been a few there were a few photos in the simulator and one there were like the hemorrhages I kind of thought that if you saw those hemorrhages it was sort of implied envy in stage 3 but it seems like that's not necessarily true based on the standard photos and also like what I've observed like in real life is that there can be so he can be used to stuff I think in real life also like what they've observed with OCT is that some neobasterization is I think happening in stage 2 on OCT there is blood flow but it's just not it's just in a ridge and not making these like crazy teeth that go back so I think our old thinking that like stage 3 is neobasterization and stage 2 is only fibrous tissue may not might not be correct that's good to know okay Mubarak this like looks really similar same just another crazy so sorry okay Mubarak what kind of stage do you think this is yeah so I see a ridge I think in stage 3 yep this is stage 3 because it's not just like a thin ridge it's got all this like crazy stuff going on back here I think what's happened is this is like a stage 2 ridge and then there's also a second one sometimes you get these like double things and this is like stage 3 over here and then what zone do you think we're in oops I'll say zone 1 yeah I think it's zone 1 I think we just use our imaginations like this is pretty close to the nerve but I cannot tell on photos but I like really failed a lot of the cases because I'm running so anyway I started to learn as you do more of the cases like how to tell this so how they put this on the photo so I got better okay do you think there's plus disease Mubarak there does look to be tortuosity now there is tortuosity and dilation Mubarak's going plus disease so how would you manage it so this is zone 1 so yeah very good so it's since it's zone 1 either plus or stage 3 and this kid probably has both I guess if you're waffling on the plus disease you'd still treat the kid alright and then Tyler do you think we should treat this kid when do you think we should see this kid again two weeks what kind of things make you think we should see the kid in one week if this kid had what would you see him again in one week okay so what I would do is if it's stage 3 or if it's in zone 1 I would follow up in one week everything else I would follow up in two weeks because if it's plus disease you're treating I don't think they'll test you on that but in general one week would you guys call would you call it I called it zone 2 or is this state did I mean to oh is this one this is meant to be zone 1 but I feel like I saw vessels I think the vessels are like ending here temporarily and maybe so if it were zone 1 when would you see the kid again well if it was zone 1 I would see them in a week but I guess when I'm wondering I'm wondering if this is like zone 2 stage 0 right because there's no yeah this is stage 0 there's no zone 2 but with plus disease oh that's true I would see them again or plus disease so there's nothing at that junction this looks smooth and normal good question excellent question alright how about how about this kiddo when would you guys tell me when would you see this kid again wait is this the same kid okay oh this actually addresses my last question so Tony what does this look like to you so I'd say this looks like zone 2 zone 2 stage stage 3 well I think this is like stage 1 I can tell you like looking at first there's some of the ambassabilization there this kind of looks like that so even though there's lots of vessels kind of branching out there that's you wouldn't consider that yeah so that's a very good question so you know preferably people can get this what is the word for that when they branch that's like but basically there's arborization that sounds good okay let's call it arborization so so you can get like a ton of this if you don't have that much ROP it's it doesn't like I guess it's a sign something's going on but we don't use that to determine the stage when to treat it definitely gives you the heebie jeebies that's a little like going like that so my question I'm a little confused because one of the cases that we did I kind of circled around one of those like arborization things it was like neopascarization I thought that's what it meant unless are you looking for like other signs well I would yeah I just look at the looks like this if you could find that one for me again I'd love to look at it together so zone 2 stage 1 that looks like plus disease it wouldn't treat it would not treat even though there's plus disease it's only stage 1 here 1 to 2 weeks sorry Dr. Hoffman Dr. Hoffman's calling hi this is Eileen how do I feel I'll let you know this one that's one of the years whether or not the treat is right now not stage 1 or stage 2 I know because looking at that I would call that stage 2 I treated it I'm willing to yes yes yes pre-threshold if it's type 2 pre-threshold if it's type 2 which is zone 2 zone 2 1 with actually you don't include that so this would be like there's no way there's no way type 2 pre-threshold doesn't treat it's only stage 1 but I'm totally willing to actually have already told you that I'm not lying to you there's no way it's from the guide that one they see it's just out plus it must be treated okay I'm a fan too okay I'll tell the residency you said hi in the middle of their lecture it's okay it's okay they're enjoying their break okay it's all up one week okay okay follow up in one week yes for the plus disease even though that wasn't on my table there we can't really find a spot where this falls because they talk about type 2 pre-threshold or like just below needing treatment if you're in zone 2 it has to be stage 3 without plus but they don't talk about plus disease without stage 2 or 3 in zone 2 okay I just feel like it looks scary in real life you hardly ever get plus disease without stage 2 or 3 so that's why it wasn't on my table and maybe they're not comfortable in there so but in the postage of asset life anything goes but anyway that's a different story okay how about how about this are we on DK? yeah okay what do you think of this yeah so this looks like stage 2 to 3 most like the 3 zone yeah I think 3 because it's got that messiness to it where it's like behind there and it's got a little I'll say zone 2 zone 2 yeah probably because of Matt that was looking pretty good on this one yeah and no plus disease and no plus disease so when would you see this kid again? one week yes for the stage 3 okay Matt I had a question yes so that picture on the left is just showing that the bridge is not in the picture right yeah zone 2 zone 1 I kind of just try to figure out where I think the phobia would be so we know that this is not in zone 1 and then since we can get a photo of it we know it's not in zone 3 when you're on Pete's Dr. Hoffman or whoever will have you look close to your pole and then you'll look nasally first and if you see something nasally you know you're in zone 2 likely 360 but if you don't then you're probably looking out farther but it doesn't work on the long run yeah it doesn't work zone determination on the photos is not good okay so we covered what's the phenotype that we covered already we just spent all that time covering inherited diseases that affect the retina and the rest of the body what's the eye presentation that we've already covered rp like exactly what are the other eye presentations that I had on my little regular issues really small over here maybe you can extrapolate there's fundus hypo pigmentation um myopia and rd and peripheral non perfusion so got a little to cover we're doing great doing well what's our score right now what team is up by 3 back teams back teams okay okay okay she starts shouting like Tyler anything so the price I have some amazon gift cards and whoever the team that wins gets to there's only two gift cards we're going to try it together how to spend it on behalf of the alright so so macular problems some gross generalizations is that they tend to be recessive and have neurological problems similar to like what we've talked about before and many of them are lysosomal storage disorders we kind of you know shouted some of those out when we were thinking of the lysosomal storage disorders so what are the lysosomal storage disorders that cause mucopolysaccharidosis mucopolysaccharidosis excellent and cystinosis and so the ones that cause this macular problems are sphingolipidosis as opposed to mucopolysaccharidosis as well as as well as as well as phucosidosis and then there's trinucleotide repeat disorders so sphingolipidosis I guess what are what's different about sphingolipids compared to mucopolysaccharidosis like chemically like what are they or glycosamino glycans which are degraded having problems being degraded like fatty so the sphingolipids are fatty where in our body is that fat important so their brain it's important in the myelin so sphingolipidosis and then how about the glycosamino glycans there are obviously in the brain too but they're kind of building up in various other parts of the body the face, the liver, the spleen as opposed to having more neurological problems here and then phucosidosis is the sugar so systemically we talked about having neurodegeneration is this the kind of thing where sometimes it can be bad and lead to the death or just like the cognitive delay or bones yeah so definitely like I think tasax can lead to death so here are the various phenotypes which one of these diseases cause like a cherry red spot tasax and gosher so gosher I know in the book it says cherry red spot but when I like google imaged it oops why do I have macular halo twice anyway cross that out and put like white spots so the gosher it seems like maybe looking at google imaged it's like the white spots are our characteristic and then how about macular halo I don't know I don't know I think about the different types but okay we'll go with and then how about retinal vessel tortuosity excellent okay and also the phucosidosis what's the inheritance of all these processive except for one of the bad reads so here's a bunch of pictures what do you think this one is sacks with the cherry red spot what do you think this one is favorite favorite you're trying to capture the vessel tortuosity here how about this one white spots with gosher and then how about this one macular halo and nemen pick we're gonna go these two are the trinogluotide repeat disorders so we'll cover those so in Fabri another name for Fabri is angiocarotoma corpusum the way I think about it is that these sphingolipids are like building up in the blood vessel walls and those smooth muscle cells so it's causing like blood vessel issues kind of everywhere in the skin in the conjunctiva, the retina and then there also what is this a picture of and then can Fabri's be treated so there's some drugs that can be used to treat Fabri so somebody came up with like a list of the different diseases that could be treated that was Marshall nice what are some of these other diseases that can be treated once I putt I guess was like LCA just because of the LCA with gene therapy incongnanship and mentee but mostly just because you can treat like a skin fight I guess you can treat like the skin and the eye findings from the skin in the eye soon as Anthem Elasticum soon as Anthem Elasticum wait how do you treat you can treat with anti-abedget oh okay you can treat the chorotomy of vasterization and I separate it into like things that are that with the vision which is treatable stuff that only the systemic stuff is treatable but not the vision and then like not treatable at all just vision and systemic stuff that's treatable at least like symptoms from the Bible and like vitamin A deficiency, Fabri's disease, cystinosis cystinosis and vitamin A deficiency excellent yeah so and then in PXE it seems like they like to put them on aspirin because they they get some sort of do they get like aortic root dilation or something not aortic root I don't know what do they get when they get like GI please do they avoid aspirin I don't know how they treat it you can almost look up the soon as Anthem when it's up to you you could like probably take yours yeah yeah they'll do like the ask a surgery for like you look up and make sure about the aspirin if we're supposed to avoid it it does seem to avoid aspirin oh I got it totally wrong they do lip and lowering though oh and they put them on studs okay excellent soon as Anthoma no aspirin and yes studs thank you alright so the trinucleotide repeat disorders what's an example of a trinucleotide repeat disorder that doesn't affect the eye so what's the inheritance of trinucleotide repeat disorders dominant because you're getting that copy bad copy from one of your parents and then it keeps getting bigger and bigger okay so the two trinucleotide repeat disorders are myotonic dystrophy and spinal cerebellar ataxia just anyone want to tell me anything about myotonic dystrophy frontal balding they have that straight note there yeah they have trouble letting go when they grab something cataracts cataracts what kind of cataracts Christmas tree cataracts that's fantastic abnormal ERGs abnormal ERGs I'll have to take your word for it I think that's enducian oh it is enducian at least calling him out that doesn't feel like you're that minus one she's presenting other neuromuscular issues so it's like muscular whole sections there's other ones who also have ERG problems too possibly we'll resolve this at a later time okay and then spinal cerebellar ataxia it's pretty obvious you know ataxia and then their macular findings myotonic dystrophy can cause like a pattern dystrophy and then spinal cerebellar ataxia can cause it so which one of them causes pattern dystrophy and then which one causes macular ataxia and then problems with myotonic dystrophy I got this picture last year is that the malania white house it's the malania white house plus oh yeah that was christmas trees christmas trees this is malania's christmas decoration a couple years ago of the white house wait there's action like that no not the facts that's like on his tail that's like weird white house weird white house and then this is just showing a small cerebellar oh wait we forgot about the CPEO in the myotonic dystrophy we just mentioned that so now we're on to myopia and retinal detachment we're getting close and peripheral non-perfusion how are we doing that type okay no we're on to fundus hypopigmentation okay what are some of these diseases that cause hypopigmentation algea is a one way for us there's a cause okay tyrosidemia I don't know what does it we'll take tyrosidemia algea and retinal detachment oh algea and retinal detachment so what uh yes so you guys know all about algea because of your millions of patients consults how about wardenburg the other white white wardenburg and they can have iris heterochromia how about so what about the inheritance of ocular versus oculocutaneous albedism x-linked versus recessive and then we got it back can we try ocular is ocular is x-linked yes okay um and what other eye findings are there in albedism other than DIDs DIDs abnormal decisive nystagmus nystagmus oh you guys are going I already got it okay everyone because of the mis-routing I forgot exactly what happens you probably heard electrical creoles does he still give you his life lessons lecture or he tells you like not to get married not to have kids and not to like buy a retirement home in hawaii that's all visual potentials so the patterns of reversal okay why why does creel doctor creel say those things those things so those are his life lessons I don't think we got that lecture yet well those are all the mistakes that he's made so I don't know perhaps I'm sorry that you don't get his life lessons lecture it's very funny it's the albedism lecture not the life lessons wait how does albedism with your life lessons go together we should ask creel discovered this thing about albedism he discovered the difference in like oh creel discovered the fact of the Dekasage Mimers whatever it is I've been excited to discover it it's pretty like significant yeah okay maybe I'll just make the diagnosis maybe I'll just make the diagnosis so how about Chediak, Hey Gashi and Hermansky, good luck that's like an immuno yeah they have immune disease low platelets is that in both of them yes Chediak you said has neutropenia yeah you're gonna see someone with that alright I put here P pulmonary fibrosis I don't think we mentioned and I need to add some sort of tyrosine what is it called herosinemia okay you definitely you keep saying it I think we should keep this subtracting yeah but that's in relation to albedism well anyway we're gonna resolve the task there's an absence of macular pigment but okay let's move on to myopia and retinal attachment this is I don't know I tried to find a photo of sick glasses and this is what came up sick the photos so a lot of these diseases in contrast to what we previously saw are autosomal dominant a lot of them are structural proteins so unlike an enzyme where if you have half cleaning up these structural proteins half is not enough so what are some of these diseases that cause myopia or syndrome alligilas we covered that previously it still calls myopia Wagner what gene is mutated in Wagner called to A1 A2 no that's stickler it's called to A1 okay what other diseases are there diseases cause myopia and retinal attachment our pants what's myopia why is that no also we have podlar what gene is mutated and marg-an fibrillant excellent how about wild Marge-asani oh it can actually be fibrillant as well it's weird it's the same gene but it can cause like opposite in some ways opposite effects Or it can also be add us to 10. And then you've got no block, it's collagen 18. Wagner's Versacan, you can't. Okay, I think we probably know a lot about the other ocular findings. How about systemic findings of Stickler? Also, you're very familiar from all the NICU consoles that you did. Do they have you doing those anymore? They have all the time. Maybe just me, I don't know. I'm shaking their head, but basically anytime, you know, when kids born with like a small jaw and, you know, yeah, they have to like eat them and stuff. And they, yeah, they face hypoplasia and then they console ophthalmology to roll out Stickler's. Confidence, you read them in the NICU. Yeah, and then you do retinoscopy because the myopia is congenital as opposed to myopia is which developed later. Okay, oh, and then they're vitreous. I haven't read the ophthalmology. I don't think we really, this is not something you're gonna be tested on. And then they got arthritis. Nobloc gets encephalosyel, barfin, oh, Marciassani, I think you know about. Okay, we're gonna do peripheral non-perfusion. So what diseases cause like peripheral non-perfusion? That's true, sickle cell does cause that. What was your question again? Diseases that cause retinol non-perfusion and problems in the rest of us. Fever. Continent chest. Fever, Ken. Continentia pigmenti. Codes plus, yeah. Okay, good, excellent. So with codes, there's like codes plus which can cause like, what else does codes plus have with other than codes of generation, neurodegeneration? And then the name of this one kind of tells you they have bone problems. What's the inheritance of most of these things? AR accept. Yes, very good. They're all autosomal recessive except nori disease. What is the inheritance of nori? Oh, actually not all, okay. Nori is one exception. What is the inheritance of nori disease? Ex-link, ex-recessive. Okay, there's one other disease on here that's not autosomal recessive. Negative. I'm so confident. There's one other disease on here. This is something you could definitely be tested on because it's one of the few diseases like incontinentia pigmenti. So. You didn't even say it right. My bro was God's. My bro was God's regional diameter. That's what we say around here. So, nori disease is ex-recessive. So what's the only gender or sex that occurs in? Nails. You only see norian males. How about incontinentia pigmenti? Nails. Only in girls, why guys die? Yeah, it's ex-dominant and it's lethal in the males. And then incontinentia pigmenti, obviously they get a rash. What else do they get? Teeth. Teeth problems. Good. And brain, they can have seizures. How about, the rest of these, these are never gonna be on a test but Dr. Hartnett may pimp you on these. So. I'm rising a little low. Low. Apparently this, oh, right. Okay. Yeah, I forgot. This LRP5 mutations causing fever can give you osteoporosis and that can either be dominant or recessive but you don't have it for everything. Okay. Are these sporadic? Or are they like always like? So when like, could they be a de novo mutation? I guess, yeah. Is that like a significant percentage of them or are you yourself gonna think about it? The fever one yesterday that was sporadic. Yes. I think of being not like a monogenic inherited disease whereas like, I'd like be the first person in your family to have the mutation, which it's like I call it de novo mutation but you could pass it on to your kids. So it'd still be like a ex-dominant disease but you would be, your parents don't have it, your wallet, if they're going to have it. Okay, so you don't, okay. So de novo, de novo mutation of something you want to consider is sporadic. I don't think so. Yeah, like someone has to get it to pass it on. Okay. The other, okay. So what is the other thing that causes dental problems other than, I don't know. Yes, Jaleelie. Okay, what does Viettae cause? Crystals. Okay, good. What is this picture of? What are these things called? That's cardi. Yes, this is our cardi disease. Cardi disease. What did you say? You can put it also in a Wisconsin accent, it's okay. But no, they're lacunae, lacunae, yes, excellent. These are lacunae. And then what is it picturing here at iCardi? Agenesis of the corpus callosa. Excellent. And as we mentioned, Alport syndrome, what does that cause? Lashings. Lashings? I don't know, burns the epimion, some sort of blossoms. Oh, I know, they could have temporal atrophy of the back. I swear to God. That's not going to come off. Maybe it's a closed shape. What else does Alport syndrome cause in the eye in the anterior segment? Is the most. Most of your lenticotas, okay. I think it's an anterior. And technically they can get anterior lenticotas, but no one's like, it just gets too confusing. Okay. And then Alport also gets like kidney and hearing issues. What is the inheritance, inheritance of Alport? X. Yeah, most commonly X, recessive. Okay, you made it to the end. Oh, just in time. Okay, who's our winner? The back row violin. Okay, the back row violin. To figure out how to spend these, there's $250 a card. Which questions to kind of answer. There's a lot of. The retinal loss. The retinal loss. The retinal loss. The retinal loss. The retinal loss. That's what I'm like, that's the old jamship. Like coffee drops. Yeah. Oh, I thought you were gonna, Nicole, just like, smile at me. I'll never forget it. Oh no, that's what you're like, you're never going to get this. I'm gonna sit here and wait for you to try. My parents didn't smile at me. Thank you guys for being engaged and being here. Well, I mean, we don't have to. Thank you so much. Thank you so much. Thank you so much. Thank you so much. Thank you so much. Yeah, that's what this is. Oh, that's what you have. Love you all. This presents you well. I still want to see it. Do you see it in real life? Can I see a photo of my little wife? Try to find a lot of things. Cheers. The first thing was like, I bet you don't know what a lot of things is too. No. That's like, it's the only worst one. It's the best. All right. There's no comment. No. Oh, thank you. Yeah, there you go. Minutes of courtesy, love that. That was so quick. We're gonna talk about all the things that show. Oh, I just, that's all left here. I just watched him, beginning with that line, beginning up with Sonnestada. I've also used this one. It's one of the all the things she used to do. Yeah, yeah. He only goes, No, I think what Nico said was that later, he had gotten more though, right? It wasn't like in the video, or maybe the clip was... I only watched the beginning. I only watched the beginning also. When I watched it, I thought it was a joke. And I thought it was some kind of parody thing. Like it wasn't an actual video. I thought it was like an SNLC and talking about the lecture and the food. Yes. Hey, what do we want to do with the extras? We're going to bring it to the reservoir. No, I mean, bring it to other options. That's not me. Take some of the V8. It's used to the V8. Yeah, right? That's a take on point. I feel like lectures like this will trip me on. I don't like learning about this. I don't think that that was the... Oh, no. Oh, hi there. You were smiling, but maybe I got a lecture from a medical school that scared me. Yeah. I need a photo. I don't like things like a lot of individual pieces of information. I got like... Morning. Yeah. What's up? Hi. Hi. Yeah, I know. I was like very tight as not to be able to. Yeah. And then you texted us that it was open. Yeah. But then I had the last couple of books. I spent so much time on trying to come with us. Yeah. And I was just like... I was... I was just like... Whatever you want. I'll take the rest of it. Yeah. I was always on the lecture. It was a difficult call. Yeah. It was a difficult call. And I sent you the email about that. Okay. Yeah. I got a call.