 Turn it over to Brian Byrd, who actually comes to us from University of Nevada. Alright, like I said, my name is Brian. I'm a visiting student from the University of Nevada, Reno. Knowing I'd be five out of six here, I thought we could use a little battle cry of enthusiasm here. So with a little help from Tina, I found this picture here, just like the excitement I thought we might need here. The case I want to share with you guys today starts with a 36-year-old Caucasian female. She came into our clinic just requesting a checkup. As we worked through her history, it was pretty non-contributory there. And then her workup was that of a healthy 36-year-old Caucasian female. So as we moved along through the examination, we started our SILT Lab exam. We found this finding right there on the cornea there. And I want to give everyone a chance to just kind of look at that and think to themselves what that might be. I want this called as a posterior embryo toxin. And so it's associated with other congenital defects. And so we went through the rest of the exam. We found that it was quite normal. But because of that finding a posterior embryo toxin, we went ahead and did a gonioscopy. And we found, if you can see that image right there, we found these broad-based peripheral anterior sceniciae that were scattered throughout the eye as well. And then going through the back of the eye was pretty normal as well. So if you think to yourself, all right, posterior embryo toxin plus these PAS, what could be the diagnosis for that? And so you can think to yourself, a few of them. I've listed a few up here. And as it says on the list right there, axinfiltanomaly was actually the diagnosis for our patient here. And so axinfiltanomaly is part of a bigger spectrum of syndromes, the axinfilt-raggers syndrome. Basically, it's a spectrum of disorders that differentiate it based on the extent of clinical findings you have, axinfiltanomaly being the most benign of those. And so these are caused by defective neural crust-cell related processes during fetal development. It's most commonly inherited in an onosomal dominant fashion related to the genes PITX2, PAK6, FoxC1, and RIEG2, among others that we're studying right now because of the advent of genetic sequencing methods. The reason it's so important is because it imparts a 50% risk of developing glaucoma. So that's why we want to identify these patients and start with treatment. Because it is congenital, it's most commonly diagnosed in infancy or early childhood, but really it takes a few years for that glaucoma to develop. So to kind of dig into the spectrum a little bit, I thought it would be helpful to go ahead and parse each of them out. Starting with most benign, we've got the axinfiltanomaly. Again, that's that posterior embryo toxin in addition to that eridicorio stranding there. When you see this, I thought it would be important to talk a little bit about posterior embryo toxin, simply because it's found in a lot of the people in the population. Some papers were claiming estimates about 15%. I found probably the best estimate was found in the Nature paper back in 2004. It took about 700 patients and found that the prevalence was about 7%. Again, it's innocuous in most of these people, but it can be associated to more severe syndromes, including axinfilterega syndrome and others. So as we move up in severity, additional malformations, so with axinfiltanomaly plus iris and pupil anomalies, we call that Riger anomaly. With additional malformations, we can see now that the patients will have additional symptoms. And so because of the iris and pupil defects, patients might start complaining about photophobia and glare problems as well. And then the most severe end of the spectrum here is the full-blown axinfilterega syndrome. So this is a Riger anomaly. And in addition to that, now we're also seeing extraocular malformations. Again, keep in mind that these mutations are caused in neural crest cell-related genes. And so these are often transcription factors with really large downstream effects. And so you can see these effects throughout the entire body where the neural crest cells are involved. Most commonly, they are the maxillofacial abnormalities. You can see in this image there, that was actually taken from a case study. That patient only had 23 teeth instead of the normal, which is 32. And then you can see some of the other abnormalities that are listed there. One I thought was actually kind of interesting as I was doing some readings, is that this excess periambilical skin is oftentimes misdiagnosed as a hernia or just an outie bellybutton. So it actually might be more significant of finding than that. So the control, the management of these patients focuses on the glaucoma itself. And so just like any patient with glaucoma, we want to go ahead and start with medical options using drops. And then however most patients aren't able to control the glaucoma based on the eye drops alone. So that's only moved to surgical treatment. I thought it was important to understand that because of the angled dysgenesis, we actually see that the trabeculotomy and the goniotomy surgery are less effective in these patients. And so they're just historically more difficult to control. So most of these patients on average require about one and a half surgeries per eye, eventually to get the glaucoma under control. Other considerations that are important to make when you're managing these patients, again as those iris and pupillary defects can cause that photophobia and glare. And so as we're managing glaucoma, managing these patients and their syndrome, we can think about getting them these pain and prosthetic contact lenses, which not only can help with the photophobia and glare, but in addition it has that aesthetic benefit that the patients are obviously interested in. Additionally, to kind of tie it all back to that case of the lady that came into our clinic, this is an autosomal dominant disease with complete penetrance. And so you need to monitor the kids and family. This lady actually had two kids and in classic autosomal dominant fashion, one of them did have the syndrome as well. And so these people and these patients will need lifetime monitoring, so we can go ahead and stay on top of that disease. So looking at kind of what's next, so this originally this anomaly was first described in 1920. So we're creeping up on the 100 year anniversary of this syndrome. So we've come a long way as you'd expect and as you'd hope. And so mostly what we're seeing right now is actually we're seeing that more genes are being identified and we're getting better understanding of these genes. We have just so many genetic sequencing technologies that are disposable now that we're actually learning quite a lot about it. Additionally, I thought the second paper was really interesting. It actually showed that Fox C1, which is associated in the syndrome, actually has been associated with reduced optic nerve size and cell number of the retinal ganglion cell layer. This is independent of the glaucoma damage. So just the mutation itself will actually show some of this decreased number in the retinal ganglion cell layer. And so we're learning a lot about the disease and with more understanding comes better treatment options. And so just a quick list of my references and a big thank you to the physician who helped me out for being able to do this rotation here at the program. Thanks guys.