 Okay, so talking about the fecomatoses today, and the way I decided to do this was to, like Russell said, the fecomatoses are really high yield for OCAPs. They actually do come up in clinic from time to time, especially on the Peds rotation and neuro-ophthalmology. And I remember I always get excited when a patient with one of these comes in because you actually get to see what you've been trying to memorize. And there's a, so my approach to these, I actually decided to do this table and kind of walk through the table. And the reason is I feel like these are really hard for me to remember everything. And a few of the problems are each of them have two names, at least two names. They all have some, there's some overlap and similarities between a lot of them. And the other thing is a lot of it's just kind of memorizing and remembering what goes with what. And so for me, looking at a table to see, oh, this is where this fits in, this is where that fits in, it's really helpful. So we'll kind of walk through this and pay attention and if I'm missing anything, let me know. I tried to get, stick with the BCSC for this, no I was going to have everyone flip it over. The quiz won't be bad though. The quiz won't be bad. There's someone here, Russell. So we'll just kind of walk through that and look for patterns and things that are one place and things that are distinguishing between the features. And the other reason that the fakeomatosis were hard for me, especially as a P2I2, is I had just, you know, I was really proud of my new Greek skills. I knew what fake-o meant and pseudo-fake-ik, a-fake-ik, I was like, I know what fake-ik means, it means lent. And so I remember, I was like, but the lens doesn't show up in any of these. So I actually looked up where it comes from, so fake-o means spot or lens. So this is actually from the spot part of the word fake-o and not from the lens part. So don't, you know, don't be, I would get really stressed out, I was like, but how does one of the lenses affect the lens? So the fakeomatosis at the top of the table here, I have the definition. So they're also known as neurocutaneous syndromes. I was actually going to ask you, Dan, do you, when you guys learn about these syndromes, what do you call them? You call them fakeomatosis too, I didn't know if I was just, I hadn't heard that word before, ophthalmology residency. So also known as neurocutaneous syndromes, which I think is a little more descriptive. And the characteristic is they have corastomas, haemartias, and haemartomas involving different organ syndromes. So anyone know what a haemartia is? I don't even know if I'm pronouncing that right. So haemartia versus haemartoma, am I pronouncing it right? I just sound like Turkey. Yeah, I wanted to do it with a Spanish accent. So haemartia and haemartomas are abnormal tissue in the right spot. The difference is haemartomas are growing and haemartias don't grow. And they're really good ones so long. But so that's the definition. So we're kind of walk through these. And then my slides, I just have pictures because I feel like pictures for these are helpful to understand instead of just the words, just memorizing the words. So neurofibromatosis, there's NF1 and NF2. So NF1 is the von Recklinghausen syndrome. And like I said, I feel like the things on this table are all really high yield. And probably if you knew this, you'd do well on this part on OCAPs. So it's autosomal dominant and the gene is 17Q11. Does anyone have a way to remember 17? So there are 17 letters in von Recklinghausen, that's how I remember it. That seems silly, I don't count them every time and I don't remember how to spell it but that just helps me remember 17. So 17Q11 and then the classic findings. So I broke it up into the classic findings, the other eye findings that are, that's something that's often tested and then just other findings in general. So the classic findings are the cafe au lait spots. So here's a picture of those and then as you'd expect neurofibromas or the other classic and then the optic nerve glioma is the other one that's classic. And Lychanodgules, which are iris hamartomas, is another way that those can be described. And then they also have Breckling of the axiol in the Inguenes areas. And then the other eye findings, they can get plexiform neurofibromas, diffuse uveal thickening, ectropion uvea, retinal astrocytic hamartomas, which show up in other places. The myelinated RNFL, I feel like it's tested. And then they're also at increased risk of meningiomas and schwannomas. But the optic nerve gliomas are the ones that are really very characteristic of NF1. And then other findings that also show up. So absence of greater wing of sphenoid, so they get pulsating exophthalmos with that. And then the just hamartomas in other places. Anything else to add on the one? Do you see that absence of the greater wing of the sphenoid? Yes. Is that, does that come up? Yeah. It's not coming out, but it is pulsating. Yeah, it's pulsating. So the eye would be pulsating, but they're just not really coming out. That's helpful. And so moving on, NF2, also known as MISMI syndrome, so that's multiple inherited schwannomas, I think, and meningiomas that are pulled up here. Multiple inherited schwannomas, meningiomas, and endemomas. I haven't heard of called that except on OCAP's practice questions. It was tricky for me. So this one is also autosomal dominant, and then it's on chromosome 22. So this one's easy for a way to remember. It's NF2 on chromosome 22. And then so kind of the defining classic things for this are the bilateral acoustic neuromas, which Russell mentioned. So that was the connection between our lectures. And this is a picture of that. And then the meningiomas are very common with this. And then another thing that's important is that they do not get lish nodules. It's what the BCSC says. Does that hold true in real life? No, I can't imagine. Yeah, he has to describe it. And then the other eye findings, posterior subcapsular cataract. They can also get wedge cortical cataracts and combined retinal RPE hemartomas, schwannomas, neurofibromas. They can get the gliomas. And then deochromocytoma should not be in the eye findings. I don't know why I put it in there. So any comments so far NF1, NF2? Questions about differentiating them? So moving on. So tuberous sclerosis, also known as Born-Dill syndrome. So this one is also typically autosomal dominant, but can be sporadic as well. And then there are two genes for it. And so below you see where I have it in italics, the tuberous sclerosis. The reason I have that there is that's where the abbreviation for the genes comes from. So the T for tuberous and then the SC for sclerosis. So the genes are TSC1 or TSC2. TSC1 is on chromosome 9, and it's called haemartin. And TSC2 is on chromosome 16 and called tuberin. And I don't have a good way to remember those. So if anyone comes up with one, let me know, because I need it. Because that does show up on O-cap's right console. O-cap practice questions. So there's the classic triad. So adenoma sebacea. And I have, looks like, is this there? Because I feel like that's what it looks like on a picture. Mental deficiency and epilepsy are the classic triad. Not every patient has bad mental deficiency or really bad epilepsy. There's some variability with it. So the eye findings. So astrocytic haemartoma of the retina, which does come up in a few other diseases. But it's common in this one. And this is what an astrocytic haemartoma looks like. And then they can also get astrocytic haemartomas of the optic nerve. And then the other findings that end up being really important are seizures. And I think that's where we see quite a few patients with tuberous sclerosis is that on the P's rotation, a lot of these are on, what's that? What's the other name for it? A lot of patients are on that. So they get frequent eye exams and you'll see they have astrocytic haemartomas. So you get really a chance to see a lot of patients with tuberous sclerosis and a lot of patients with astrocytic haemartomas. And then the, so the adenoma subation we mentioned, and then the ash leaf spots are hypo-pigmented spots that fluoresce under a wood's light. And then they can also get sub-dependable haemartomas and cardiac rapid myomas. They have a high risk for those. And then the next one is cerebral facial angiomatosis. Or it can be called encephalotriminal angiomatosis. Or it can be called Sturge-Webber syndrome. And this one kind of an important feature of this one is that it's sporadic, it's not inherited. And then the, so the nevus fleumius or port wine stain, also known as spacial hemangioma, is one of the characteristics of it and it's in a fifth nerve distribution. Then they get the choroidal hemangioma that re-switches the abnormal line. So the, does anyone remember the kind of buzzword for this? It'll catch up, fundus. So it's actually this side. The right eye is the abnormal one and the left eye is the normal, more pale fundus and you can see the choroidal vasculature. That's the classic, but you're right. So what the terminal catch up fundus is, is if it's diffuse involvement, you can't have a focal involvement. And so I looked at a few pictures last night. It looks kind of the same, like, but just not the whole area. So they can also get dilated tortuous vessels of the Conch and Episcularia. And they can get, they're at higher risk for glaucoma. So the same, so this, I felt like, comes up on OCAPs, the congenital versus the juvenile. That's what I had to do with it. So they're at higher risk for congenital glaucoma, meaning they're at higher risk for angle problems. So they have drainage problems. But not all of them will get that. They're also at higher risk for issues with outflow and elevated Episcularial venous pressure. So if the glaucoma comes on later, then that's the issue. And that's an important distinction to keep track of. Then they also can get leptominigial vascular malformations if salateral to the port wine stain. And then they can't have issues with seizure and amyplasia mental belay from those malformations. And then there's Clopel Trinani Weber. It's a variant that also has the nevus phoemius, the heme angiomas, varicositis, intercranial angiomas, and then the hemihypertrophy of worms. So that's a Sturge Weber syndrome. So the next one is Von Hippel-Lindau syndrome, so also called retinal angiomatosis. And that's a tough thing for me to remember for some reason, the retinal angiomatosis associated with Von Hippel-Lindau. It's also autosomal dominant. And the gene is VHL, which is easy to remember, and it's located on chromosome three. And so my way to remember this one is that it has three names, Von Hippel-Lindau, and three locations for tumors, and then it's located on chromosome three. So the three classic locations for the hematomas are the eyes, brain, and then the kidney. And so the eye finding is the retinal angioma. And this is a picture of this. And I think this is something that's pretty distinctive. And before I had seen one, it was hard for me to keep like astrocytic hematoma, retinal angioma, keep all those distinct, or the choroidal heme angioma. So this one's actually really distinctive. So you'll see a small tumor, and then it has two vessels coming out of it, one's a vein and one's an artery. And I saw some several patients with these on the retina rotation is that have other people seen them. So they come up because they can lead to exudative retinal detachments. And then the other is they can get cerebellar heme angioblastomas, renal cell carcinomas, pheochromocytomas. And so that's Von Hippel-Lindau syndrome. And then there's Von Hippel disease, and that's if there's only ocular involvement. Next one is ataxia-telangictasia, also known as Lewis-Barr syndrome. So this one is the only one that's autosomal recessive. And so that's remembering those autosomal dominance and autosomal recessives. I remember this one, the ataxia-telangictasia is autosomal recessive, and then streach-weber and weiburn-mason are sporadic, and then all the other ones are autosomal dominant. I'm sure that's the case. Normally that's the case, right, if it's so. So on chromosome 11, and then so I like it ataxia-telangictasia, it's in the name. So progressive cerebellary ataxia, and then they get ocular cutaneous conjunctival telangictasia. So here's a picture of that. And then the other thing that I think is really important for these is they have eye movement issues. So they get super-nuclear gaze policies, impaired convergence, nystagmus, and I read the ocular motor apraxia is one of the early, and then other findings, they get the, they have cutaneous telangictasias, and then it also affects the thymus and T-cell function, and then increased risk of malignancy, generally, and coarse hair in the skin. And the last one to talk about is this racemos hemangiomatosis, also known as weiburn-mason syndrome, and this one is also sporadic, and it's usually unilateral, and they get this racemos hemangioma of the retina. So it's an AV malformation with really markedly dilated vessels. So you can, so people without this disorder can get AV malformations in the retina, but they're normally not as extensive. These are normally very extensive and remarkable when you see them. And because of these, they can get intraocular hemorrhages, which is one of the things that caused a lot of visual loss for them, that also increased risk for glaucoma, and then they can get AV malformations in the brain, seizures, peresis, mental changes, things from that, and then also other AV malformations in the orbit and facial bones. Okay, any comments on these or patterns? Anything I missed? They are tough, they're tough for me, for OCAPs, but they come up a lot, but I feel like this is pretty much this information. What the name of the disease is, what the classic findings are, some of the other eye findings, especially, the genes can come up. I was like, I think I get the lecture on this, not sure what's happening. I still have a lot of your notes from that, because... So this is the quiz. For the quiz, just fold it like this so you can see the names only. And so just name the... So these are all classically associated with one of the diseases. This is number one. This is a... Look at us looking. Right?