 Hi, good morning, everyone. Before we get started, I just wanted to get up here and say a huge congratulations to our four chiefs who did fellowship match yesterday and to a person just matched at exceptionally amazing locations. And so we are so proud of them. Congratulations to Tyler, Tony, Brandon, and Lydia. We could not be prouder of you guys. All right. Thanks, everyone, for coming to today's grand rounds. We have three residents presenting, I believe, two different cases in one potentially research project. The first case is presented by Sam Wilkinson, one of our very own PGY-2s. The title of his presentation is Unwrapping a Frosted ICL Mystery. I apologize for my voice. I am not ill. I am going to try to be the next Marlboro man, I guess. I just can't talk. So an interesting thing about Sam, for those of you who are Harry Potter fans, I chose that Sam's Patronus would be a Capybaras because it is actually the nicest animal in all of the animal kingdom. So give it up for Sam. Good morning. Thank you, Tyler. That is far too kind of an introduction. All right. And before I go any further, I just want to say huge congratulations to all of our chiefs. I really look up at each one of you and thank you so much for all your mentorship and looking forward to at least six and a half more months with all of you. So thank you for inspiring us, PGY-2s. And for those who don't know me, I am Sam, like Tyler said, PGY-2. And I'm going to be presenting a case report that I actually wrote with Dr. Ethridge and with Dr. Volershell. So let's dive into it. I have no financial disclosures, unfortunately. So our patient is a 45-year-old male who was referred to UVitis Clinic for two months of vision changes and pain. The patient underwent bilateral posterior chamber faking implantable calmer lenses three months prior to presentation. There are no complications during either surgery. He presented to his one month post-op visit complaining of floaters, blurry vision, redness, and achyocular pain in his right eye. His left eye was asymptomatic. Prior to presenting to UVitis Clinic, he was noted to have prolonged duration of post-operative cell in the anterior chamber for which he was treated with extended topical steroid. He was on pred forte four times a day and actually started on calm again twice a day due to a history of steroid response. His doctorate history was only remarkable for ICL surgeries and steroid responses previously mentioned. Medical history included depression and osteoporosis. Positive review of systems included mild headache and urinary hesitancy. His social exposures are listed here, which include minor travel exposure and living with three cats. On exam, his visual acuity was 20-30 in his right eye without improvement with pinhole, and he's 20-20 in his left eye. Intractor pressures were 16 and 17. His pupil exam was unattainable due to prior dilation, otherwise his ocular vitals were normal. On SlitLamp exam, he had fine KP and 1-plus AC cell in the right eye, and the left eye was unremarkable. His ICL was in good position, but he had white round deposits that could be seen between the ICL and the native ones. Here we have a photo, a SlitLamp photo, showing the white opacities between the ICL and the anterior chamber in this area here. Here's a second photograph that I don't think shows up very well on the projector. This third photograph also shows those white deposits. On this exam, I showed trace vitria cell. It was a little bit limited by a hazy view, but was otherwise normal. A macocet and B-scan were obtained. Here's a segment of the macocet, which was notable for mild vitria cell, but no cystoid macular edema. Similarly, the B-scan showed mild vitrious debris. Leading the differential diagnosis at this point is postoperative endophthalmitus. Other considerations included postoperative inflammation, or sorry, other considerations of postoperative inflammation included postoperative iritis, and less likely, if possible, delayed onset toxic anterior segment syndrome. The presentation was most concerning for chronic postoperative endophthalmitus, so a tappan inject was performed. The vitria sample was sent for aerobic and anaerobic culture. Empiric treatment was initiated with intravitual vancomycin and seftazidine. He's continued on predforte and vermontidine, and cyclopenylate was added to his drop regimen. He presented the clinic one week later. His exam showed decreased ac cell, but the white deposits on the lens actually increased. The gram scene was negative, however, culture results were still pending. Patient was switched from predforte to durazole, and he was added Valtrex to his medications. At the two-week follow-up, his exam was stable. Fortunately, his culture has added a little bit more clarity to the patient's diagnosis. His culture, his anaerobic culture grew C-acnees, which is formerly called P-acnees. He's given intravitual and intracameral vancomycin, as well as intravitual dexamethasone. The patient was counseled that he would likely need removal of the ICL for definitive treatment, however, he was hesitant to undergo any further surgery at this time. Over the following months, the patient continued to have trace ac cell and worsening white deposits despite repeat intravitual and intracameral injections of vancomycin. The team continued to discuss need for removal of the ICL. Here's a slit lamp photo showing the progression of the white deposits along the ICL surface and the anterior capsule. You can see the deposits take up nearly 50% of the ICL surface. Here's a photo from the initial presentation or comparison, so you can see significant progression between the two photos despite the intravitual vancomycin. Throughout this treatment of the intravitual and intracameral injections of vancomycin, his vision remained 20-30 or sometimes even better. Unfortunately, because of the persistent white deposits and recurring AC inflammation, he had to undergo an ICL extraction and AC washout. The extraction took place about six months after the original ICL surgery. Unfortunately, even after that intervention, the tail continued. Despite removal of the ICL, his inflammation recurred and persistence of the plaque now on the anterior capsule or surface of the native ones as seen in this photograph here. The ICL has been removed, but those deposits are on the anterior capsule. Here's retroalumination showing those deposits as well. Finally, we had more definitive surgical intervention with a fake omulsification. An IOL was not placed at this time. He also had a paris point of atrectomy and intravitual injection of vancomycin. Eventually, he did receive a secondary sulcus IOL, which led to uncorrected visual acuity of 2020. Our patient's case has come to a happy ending, but I want to take a few minutes to discuss endophthalminus and ICL. This is the long journey that he went through after his ICL surgery. Exogenous endophthalmitus is much more common than its counterpart endogenous endophthalmitus. Typically, we see postoperative endophthalmitus cases presenting one to two weeks post-op. Presentation more than six weeks post-op or classified as chronic. Chronic postoperative endophthalmitus typically presents with better visual acuity and is less likely to cause hypopion than its acute counterpart. The incidence of postoperative endophthalmitus is between 0.01% and 0.367% of all postoperative patients. Acute endophthalmitus occurs about two to five times as often as chronic endophthalmitus. Acute endophthalmitus is also typically caused by coag negative staff in about 70% of cases. As you know, coag negative staff is normal skin flora. Most cases of chronic endophthalmitus are caused by C. acnes as seen in this patient. Some studies estimate 41 to 63% of chronic endophthalmitus is caused by C. acnes. Fungal species are the second most common causal pathogen. C. acnes is a gram-positive bacillus that is normal flora for the contactiva and skin and is responsible for active vulgaris. C. acnes is resistant to monocyte and neutrophil mechanisms for killing, which help the organism survive. It can also form biofilm on intraocular implants, which is one of the reasons why exploitation of intraocular implants is so important. C. acnes has been reported in numerous chronic endophthalmitus cases, but this case report is actually only the second report of C. acnes causing an ICL infection. Of note, the first case also required ICL removal and lensectomy. C. acnes and endophthalmitus is often misdiagnosed as iritis. The delayed course and relatively subtle presentation can fool providers. Patients presented with decreased vision and eye pain. They typically have ac cell and white plaques on ocular implants. Diagnosis is made by vitreous culture or PCR. The first case reported actually had a positive PCR in a negative culture, so kind of the opposite of what we had in our case. C. acnes and endophthalmitus is typically treated with vancomycin. Because of the propensity for C. acnes to form a biofilm, the removal of implants is often necessary. And in many reports of post-cataract cases with C. acnes, a capselectomy has been required as well. And we'll just briefly talk about ICLs. Implanable calmer lenses or ICLs can be used to treat refractive error. In the US, they're currently only used for myopia. They're often for patients who cannot tolerate contact lenses or glasses or who have a profession requiring uncorrected 2020 vision. And ICL is often considered alongside other refractive interventions such as LASIK or PRK. The ICL is placed anterior to the capsule without disturbing the crystalline lens. None complications include infection, inflammation, glaucoma, anophilia cell loss, iris abnormalities, and retinal detachment. The rates of ICL and ophthalmitus are fairly comparable to cataract surgery. And I'd like to thank Dr. Law Rochelle, Dr. Monson, and Dr. Etheridge for their work on this case report. We published it in the American Journal of Ophthalmology case reports. Here are my references, and we'll open up for questions. So, the comment is that refractive surgery is not safe, so informed consent is really important. And then another just comment about ICLs, it would be perhaps presenting earlier, but it's important to look at the vault of the ICL. Pigment dispersion rubbing on the back of the iris can create kind of an UGG syndrome. The other thing you would need to think about in a case like this, if it were earlier, is possible bleeding from PI, creating fibrin. So, great workup. It's amazing how strong sea acne is and how resistant it is to killing, but cool case. Congrats. Thank you. Hey, is it too late to make a comment on this case, Sam? Please do. Okay, this is interesting, because as you said, this is only the second case of the PI acne or sea acne's ever reported in an ICL. The thing that makes us so difficult is when you get a nitus of this bacteria growing in there, you just can't get rid of it. And it just requires removal of pretty much everything. And when we get the pseudo-fakic ones where you've got the PI acne's in the capsular bag, we've done capsulatomies, we've done removal of the IOLs, we've done vitrectomies, and these are just incredibly difficult to get rid of. You really have to remove the entire capsular bag and pretty much everything in there, because these will just keep coming back. What's fascinating about this is it wasn't inside the capsular bag, it was actually on top of the capsular bag. So this is, as your case report said, exceedingly unusual. But again, you have to remove everything once this bug takes hold in order to get rid of it. And that's exactly what you guys did here. Unfortunately, the patient did well and you were eventually able to put in an IOL. But this is fascinating. I've never seen one of these before. Thank you, Dr. Manlis. All right. And thank you, Sam. Our next case is presented by Aisha Patil. Excuse me. Entitled A Curious Case of Vision Loss in a 10-Year-Old Girl. Her Patronus is a Kwaku. It's believed to be the happiest animal and the most selfieable, if that is a word. All right. I'm excited today to present a case that I saw as a very early PGY2 on the consult service back in July. This is a case of a 10-year-old girl presenting with vision loss. So initially, she actually presented with a drooping of her right upper eyelid. She presented outpatient to her hematology office, said she was having intermittent drooping of the right upper eyelid for three days, kind of waxing and waning. And she has a complex past medical history, so they were worried about a stroke and sent her to the ER. I saw her while she was inpatient. Very cute girl was having kind of this droopy right eyelid that she was noticing was getting worse when she was tired. And then on further probing, she said, oh, I also see double vision if I look up. And I also see it when I'm looking to the side. And if I'm just looking with my right eye only, the image is kind of smeared off to the side. So a lot of different symptoms, I really only came with asking her a lot more questions. Otherwise, she had had a recent fall. She was playing with her sibling, so hit her head, no loss of consciousness. She wasn't having any eye pain or significant headache as well. And then in looking at her history, she actually was recently diagnosed with lupus, just a week prior, immune thrombocytic perpura, a few months prior, and then chogren syndrome. So she had a pretty strong autoimmune history. She hadn't started any treatments yet for these conditions, but she was taking several naturopathic supplements. The list was at least 10 different medications. Most of them I hadn't heard of yet. For her ocular history, she had a high astigmatic refractive error. And then she also had this history of a left droopy eyelid, which was her currently unaffected eye. This was confirmed in photos seen when she was like two or three years old, but they never really made much of it. And her left droopy eye wasn't actually present when I saw her in the hospital. Otherwise, she has a strong family history of autoimmune conditions. She has Crohn's disease in her family as well as lupus, von Willebrands, psoriasis, RA, and Hashimoto's. So just about everything there. And for her social history, she had several siblings. I think it was five or six and was currently homeschooled. On her initial presentation, she was 2100 in that right eye, her affected eye. 2020 in her left, her pressures were normal. She didn't have an APD. Interestingly, on Ishihara plate, she was nine and a half out of 13. She had a lot of difficulty seeing the second letter in that right eye. And she also had some red ball desaturation in her super temporal field, as well as infrared temporal field. Visual field was also a deficit to counting fingers temporarily. Otherwise, her EOMs were full and she was ortho and primary gaze and something that was kind of picked up in her later exams, but she did have abnormal saccades when she was looking to the right. More of her first exam, she had normal optic nerves, a normal dilated fundus exam, a very normal cranial nerve exam, and neurology was also consulting for her. They did a very thorough full neurologic exam that was also normal. So naturally, with her visual field concerns, we ended up doing a bedside visual field. And to my surprise, this was her virtual visual field. It's not the most reliable. She did have quite a bit of false negatives, especially in the left eye, more than the right. But grossly, you can appreciate she does have a right homonymous hemianopia here. So with that, and that virtual visual field and field loss presentation, kind of the working differential for her was something left-sided retrochiasmal potentially, like a structural CNS lesion, ischemia, something thrombotic related to her lupus, potentially complex migraine, functional seizure presentation, a few other more rare things as well that we had considered for her given her history. So she ended up getting a pretty extensive inpatient workup. We did an ultrasound with Dr. Harry, also quite interesting, relatively normal, but she had this little echo density there that you can see with the arrow, which you can see with the CRA, but you can also see as just a calcium deposit, kind of a benign calcium deposit. So she ended up getting more workup. She had MRI brain orbits with, without, that was normal, reviewed with radiology to make sure there wasn't anything there. She had a lumbar puncture done with the neurology service that interestingly showed seven oligoclonal bands. So it was slightly positive there. And she had a normal MG panel and thyroid panel. So after her inpatient visit, there wasn't anything acute that we could really see on her workup. And so she was discharged after starting steroids for her lupus treatment. And we saw her in neurology clinic, or neuro ophthalmology clinic six weeks later, and did a more formal visual field. And again, she has this persistent right-sided haemonomous hemianopia. This also is maybe not the most reliable test. She has high false negatives in the left eye with 36% and 18% in the right, but it's still very much noticeable on this test. She also had a MAC OCT that was done and an OCT RNFL. Both of those were normal. We also did an OCT MAC GCL. This is a normal result. This was kind of interesting while I was learning about this. This is something that if you don't see like an obvious optic neuropathy and looking at the nerve, you can get an OCT MAC GCL scan that could show you some more objective differences and potentially reflect visual field changes. So hers was overall very normal though. She also had a multifocal visual evoked potential test done. And this was also normal in both eyes. This looks at electric potential evoked by visual stimulus. So this is a great test if you're not sure what's going on, but someone is having subjective vision loss. And then more of her outpatient visits with neuro-ophthalmology, we were able to do a Goldman visual field for her. Here you can see she still has a constricted visual field, not seeing the right side as well, does better with a size five stimulus, the black outline and pretty constricted with the red. She also had a normal EEG with neurology during this time, making seizures a little bit less likely for her presentation. So this is kind of the timeline that she underwent as far as this extensive workup. She was seen several times in neuro-optimology following this visual field loss, as well as getting other scans to see what could be correlating with that. And really most notably, I think we kind of went through her tests that were all normal. And by September 28th, this is when she kind of came into clinic. She's still having some cognitive issues that her mom is noticing. She's saying, oh, I can't really write with my right hand anymore. I'm going to switch to my left, kind of random things that are popping up. And at this visit, her mom mentioned, I wonder if she is doing this to get any more attention because she likes being the sick person in the family. So that had kind of come up at that visit. And it wasn't until recently on the November 21st visit when she was seen outpatient did that visual field loss finally resolve on confrontation. It was entirely full. Her mood was getting better. She was seeing occupational therapy. So these were some of the changes. So you can probably tell what the diagnosis is going to be at this point. But she ended up presenting with what seems to be functional vision loss after a very extensive and normal workup. So this is kind of an unusual presentation for vision loss in the kid because it's kind of difficult to, I guess, fake a right homonymous hemianopia. And she otherwise had a very interesting medical history with several autoimmune conditions. So I think it was warranted the extensive workup that she had for this and overall reassuring that it has since resolved. So I'm going to spend a little bit of time talking about what functional vision loss looks like in children and different tools that we can use to decipher whether it's functional or true organic vision loss. So functional vision loss is now the preferred term over nonorganic and nonphysiologic. It was earliest reported back in 1938 as hysteric blindness. And when that would come up, people would get admitted to psychiatric institutions for this. So it's interesting to see how far it's come at this point. And it does require an exclusion of structural pathology that could explain those symptoms. So typically you'll have ophthalmic testing that will demonstrate inconsistency in the symptoms that they're discussing or that this patient is presenting with. Otherwise, I came across an interesting study that looked at children with functional vision loss from 2007 to 2014 in the UK. They had a total of 85 patients and they were trying to characterize what they're most presenting with. And it seems like children typically present with bilateral visual acuity, decrease in visual acuity bilaterally, or a visual field defect unilaterally, or sometimes a headache. They also saw sudden scotoma, dyschromatopsia, amaurosis, or double vision. I'm just going to go through three quick cases to show different tools that we can also use to decipher functional vision loss. So the first case is a 14-year-old girl, history of a headache, myopia, and her migraine headaches were accompanied by transient visual loss. She lives in Idaho. Initially, she was presenting with left eye vision loss. And a month later in a separate headache, she started having right eye vision loss, which she describes as complete darkness. So she ended up getting admitted to the hospital there where she had several MRI brains with and without done that were normal, an MRI head and neck that was normal as well, and an LP and a neuro ophthalmology person who saw her there who just wasn't sure what was going on. She then presented to us and she was subjectively NLP, couldn't see anything. But what they were able to do in clinic was test her with an OKN drum bilaterally. So there's a picture of an OKN drum. For a classic drum, if you're 2400 or better, you should be able to see it. So you should see a smooth pursuit followed by a reflexive saccades. And so they were able to say, you know, you at least have 2400 vision with that test. You can also use the eye handbook, which I think you have to be like 2200 or better to see that one. So that's a great test. I wish I knew about that when I was a young PGY2 on consult, but I hadn't learned about it yet. But otherwise, she had a normal workup. She is now doing cognitive behavioral therapy and low vision therapy services. Unfortunately, not all patients recover their vision with these services and she is still not able to see. So she's enrolling in a school for the deaf and blind. A second case here, this is another one that I saw while on call. This is a nine year old girl presenting with the history of headaches and decreased vision in her right eye after hitting her right cheekbone on the monkey bars while at school a year ago. So when I saw her in the ER, she was initially counting fingers. She had a normal CT head and a normal dilated fundus exam. We weren't quite sure what was going on, but she was then seen really closely in neurophthalmology and they were able to do what's called a fogging test. And this can be done with a foreopter or trial glasses. And essentially, you tell the patient that you're checking their good eye. And at the same time, while distracting them, you can put a high power lens in front of their good eye, fogging it. And then you're essentially checking their affected or bad eye and having them read the chart. So she ended up actually being 20, 25 for treatment. A big component of her presentation was actually bullying at school and difficult family dynamics. So she was referred to child psychology. And for the last case, this is an interesting one as well. This was an 18 year old male unexplained vision loss in his right eye after being poked twice in the eye while wrestling in high school. It sounds like he was diagnosed as a traumatic optic neuropathy for at least a couple of years before he was referred to our neurophthalmology department. He ended up having normal MRI brain, normal looking optic nerves and a retinal exam. He presented to us initially with hand motion vision in that right eye that then corrected to 20, 20 vision or 20, 30 vision, sorry, after checking with vertical prism test. So this is one example of that kind of test, but essentially you can have a base down prism in front of the unaffected eye while you're occluding the bad eye. And that should induce a vertical double vision for that one eye. And then you remove the occluder and drop the prism. And if they do have binocular vision, they will have binocular depopia is my understanding. So that's one of the tests that they did in clinic. They also check stereocuty, which is a great test to check because you do need good binocular vision for that. And treatment, he was overall reassured that this was not an organic cause of vision loss for him and just in was doing cognitive behavioral therapy as well. So a few other tests for a Goldman visual field or sorry for a Humphrey visual field, maybe a less reliable test, you may see like a clover leaf pattern, but this can also be seen in functional vision loss. You could also do a Goldman visual field at several different distances from the patients. And for physiologic vision, you should have an increase in that visual field degree. So it should go out as more of a tunnel and you should have a larger area that they're able to see. But for maybe some functional patients, it'll continue to be more of a constricted tunnel vision. This could be another test you could try is the proprioception test with both eyes open, checking to see if they can touch their fingers, which you should be able to do regardless of your vision loss. And then including their good eye, and they may demonstrate that they're no longer able to do it. And that's a good way to see that this is actually functional as well. I came across the mirror test as well, which I haven't seen this used in clinic, but if someone is having profound vision loss, LP versus NLP, you could theoretically take a mirror while you're distracting them kind of close by and walking across and seeing if they're following the mirror, because people have a hard time kind of not looking at themselves. And as you bring it in, you may also see some meiosis or accommodation in those eyes as well, suggesting that they're actually seeing that mirror. A manifestation of that. And we need to get to the bottom of those things. We have an obligation to the patient. Most of the time, though, simply telling the child who wants glasses that when we're done, I sit them down and look at them and say, you know, I can't explain why you're not seeing whether that I today, but I think it's going to get better. And if it doesn't, we're going to come back and we're going to do bright light therapy again with the indirect and see if we can help it get better. And I also think it's very important to talk to the parents and say, you want a healthy, happy child. Do not confront your child with this. Don't take them out in the hall and smack them, because you've spent time taking time off work and that that's counterproductive. You have to give them room to get better. But most of the time, they don't need counseling. I could count on one hand, the kids I've sent to counseling in the last 40 years. And almost always with helpful suggestions and parents acting as a team with us, we're able to get to the bottom of things. This is a great presentation. It's an important topic and thanks for bringing it up. Thank you. I said, this was a really interesting case for us on the consult service because this patient had a homonymous hemianopsia. And of course we saw the field and we were like, this kid needs an MRI. So I'm curious if you know if there's ever been any case reports of a homonymous defect in cases of functional vision loss. And I'm curious to see what the neuro-ophthalmology department has to say about the classic visual field defects that we see. Every kind of visual field defect that there can be, it can be non-functional, non-physiologic. And I'll bring to your attention a poster that was at Nanos, actually when it was up at Snowbird, where they had a bunch of students, medical students and pre-med students in quotes fake a visual field and you can do any visual field defect you want. Anything you care to do, you can do. It is a subjective test. So number one, number two, absolutely non-physiologic visual field defects of all types have been described. I'm just going to point out a few things. You can't really test a golden visual field at different distances. You can do that at the tangent screen. The other thing you can do at the tangent screen is have the patient maintain fixation on central fixation, but have them turn their head. And you can do that at the chair side, but you can also do it at the tangent screen. And if the visual field expands where it shouldn't, that can be useful. A hemianopic visual field defect, of course, will not expand along the vertical if it's real. So when you're looking at a constricted visual field, it should expand as you move away from the tangent screen. But a physiologic hemianopia, the vertical meridian will stay right on that vertical. So it doesn't give you information one way or another. Megan and I were conferring, I have never done the base down prism test by occluding the other eye. I think that gives way too much information to the patient that you don't want to share. And so I just hold the prism down over the good eye and just ask them if they see double and if they can read both the lines, because that can give you the acuity. I would never draw attention to the affected eye by covering it and then uncovering it. And that's just giving them too much information. And the final thing, and I think that Dr. Katz really emphasizes this, you have to have a couple of tests in your wheelhouse that you can do quickly and easily. You can't be like reading the instruction book as you're doing it, because otherwise it gives the patient way too much time to kind of ponder the possibilities. I think that functional neurologic disorders writ large have actually really come in a huge move forward in the last couple of years. And non physiologic visual loss definitely fits in that category for children and adults. And our understanding of it is becoming much more sophisticated than in quotes, they're faking it because a lot of times this is a non not a conscious event, especially with children. And I agree with Bob about warning parents about bad stuff that could be happening in this child's life that they may not be aware of. And children are sometimes very overt about the stressors in their lives. And sometimes they are terrified of revealing anything. So it's your job to tell the parents, then it's the parent's job to be the parent and to try and figure out what might be going on. I have had a patient who was in their 30s or 40s. And I always ask, have you ever had anything wrong with your eyes, eye injuries, surgery, cross eye glasses? And like, no, but when I was, you know, 12 years old, I wanted glasses because my friend had them and I fake vision loss and he got me glasses, but I didn't really need them. So, you know, insight can happen with age as well. There were a few comments in the chat too. And I think Dr. Bigunta took care of a lot of them. But there was a question about the ptosis as well. And how can we explain alternating ptosis? This was a little bit less clear. Her ptosis since also resolved, she did have a negative myocenia panel as well. So not totally clear there. Okay. Thanks, everyone. All right. Great presentation. So the next presenter, McKenna Coletti. She's actually a neurology resident here at the University of Utah on her neuro ophthalmology. We're recently completed her neuro ophthalmology component of her training. Her presentation is entitled outcomes of children diagnosed prenatally with midline brain defects. And for her Patronus, I chose an axolotl because it's the most mysterious animal in all of the animal kingdom. And I don't know her very well. So maybe we can get to know each other better. And we'll be so mysterious. You might have to help me get out of here though. Sorry. Okay. Hi. Like he mentioned, my name's McKenna Coletti. I'm one of the PGY4 pediatric neurology residents. And I wanted to present some research that I've been doing that's been really multidisciplinary. So I'm excited to share it. I have no disclosures. Here's an outline of what we're going to talk about. So we'll talk a little bit about midline brain defects in general. And then we're going to talk about one of the cases and then kind of what we've discovered with the cohort that we found. So we have a 20 year old G2P0010 currently estimated to be at 31. Oh no, I think I went too far. Oh no, we're good. Currently at 31 weeks referred to the Utah fetal clinic for an ultrasound at 28 weeks with an absence septum polysidum. Prenatal history is pretty unremarkable. This is her first pregnancy. She has asthma, frequent UTIs. She has albuterol and fovent for her medications, and she has an maternal nephew with autism. So in cases like this, we get a prenatal MRI. So this was her MRI or rather the baby's brain MRI at 31 weeks. Again, we noticed absence septum polysidum. The corpus callosum for this child is a little bit hard to see, but thin, but present, and ocular globes, nares, dental buds, palate are all normal. So other midline features looking pretty good. So the question I mean remains is when we have this information, what can we tell families? Like what are the doctors in the fetal clinic telling families about what they can expect for their children long term? Will they need more subspecialties? Do they need to deliver at a hospital that has pediatric subspecialty care? And then what are the risks associated with these defects? So I'm going to bring you back to maybe a painful part of your past, which is embryology. But the reason why we see these midline brain defects is really a difficulty with the proencephalic maturation after primary neuralation. So this is a seroive inductive elements that result in the formation of the brain and spinal cord. And so these structures really start to form at 10 weeks to 17 weeks. And so the 20 week anatomy scan is a great time to pick up these defects. And really there, the structures are fundamental to the development of the corpus callosum, the chathum septum polysidum, and the optic nerve chiasm. So midline brain defects, they're a common type of prenatally diagnosed central nervous system malformation. And in fact, like for our fetal clinic, they're a third of all our referrals. So when we think about midline brain defects, we really think of them on a spectrum from absence septum polysidum. So just missing that thin membrane to whole prosencephaly. And we see it really like the whole prosencephaly spectrum is more common seen in about two out of 16,000 live births, where kind of the most more mild end is less common about like two to three and 100,000. So back to our case. So during the prenatal consultation, we do have some things to say and have had for a while. So the thing that we worry the most about is septic optic dysplasia. And so this is a condition that's made when children have two of the three triad of optic nerve hypoplasia, pituitary hormone abnormalities and a midline brain defect. These midline brain defects are also associated with the developmental delay epilepsy, and they're increasingly recognized on a prenatal ultrasound. And so we're getting more and more referrals for these folks yearly. But we don't have a lot of data. We have really small patient cohorts, not a lot of places in the country are doing prenatal MRIs. And we have had like struggles in the past with when these kids are born somewhere else, whether they get like quick subspecialty care, often they're presenting really late. Risk factors for these kids genetically for septic optic dysplasia are the HES-X1, SOX2, SOX3, OTC, X2, and then other risk factors like medications, as you would expect. However, most of the time we don't have a good reason why the midline defects are happening. So kind of seeing this need for a more streamlined approach to assessing midline brain defects and subspecialty care. Primary children's now has, we have a algorithm that we've been using for the last couple of years. This was put in place by some of the pediatric endocrinologists as well as some of our ophthalmology colleagues. And then Betsy Ostrander kind of on the pediatric neurology side spearheaded this. And so this is kind of lets us have, we've distributed this across the valley as well. So when a child is born, kind of what are the first steps that should be happening? So very soon after we should get a neurology consult, we need endocrine labs on day three of life as to not be seeing some of mother's effects in the endocrinology labs. And then from an ophthalmology perspective, it's kind of been a mystery to us when we should check these kids for optic nerve hypoplasia. But we started this protocol with saying that like in the first six weeks should be good, should be an appropriate time. So the study objectives are to evaluate how affected our standard approaches at identifying complications of fila-identified MBDs to support multidisciplinary care. We want to identify the clinical outcomes of these patients and then evaluate the timing of diagnosis because that still is kind of a big black box about when we should be checking these labs and when they should be seeing. So we did a retrospective review of neonates that were referred to the Tafino Center with midline brain defects. We have a cohort of 100 patients, which is much larger than any of the cohorts that I've been able to find. And then we use the standardized pathway. Kind of just quickly, this is the like some of the results that we have in terms of demographics, but this is kind of the meat and potatoes of what we found. So when you're kind of looking at this graph, each of the different colors is representing kids on the spectrum of midline brain defects. The purple is isolated CSP or absent septum polysidum. And then dark blue would be complicated absent septum polysidum. So if you have an absent septum polysidum, but you have a cyst or some other malformation that's not associated with the midline. And then the dark green is absent or dysmorphic corpus callosum, which in definition is also an absent septum polysidum. So moving along that pathway, and then we kind of we grouped all of the mild ventricular meglis in this non-complicated group, because it's quite common. And it's also often just called ventricular meglis, because we don't have the septum polysidum. It's difficult to measure the ventricle size. And then dark gray, we're seeing complicated or dysmorphic corpus callosums. And then the light green is holoprosencephaly spectrum. So I mean, broadly looking at this, you can see bad things happen to the light green, which is the holoprosencephaly spectrum at a rate much higher than anything else. And so that's, I mean, I think that is pretty intuitive. But patients with absent corpus callosum with mild ventricular meglis or patients with absent isolated septum polysidum really had the fewest complications and were by far the most likely to be alive without complications at six months. And complications include any of these diagnoses that we're talking about. And, but we, I think what's really important to notice is just the risks of endocrine, ophthalmologic, and neurologic complications are present across this entire spectrum. So I think there's some tendency to want to say, if you just have an absent septum polysidum, maybe they don't need to do all these things. But we certainly are seeing that these kids are at high risk of, yeah, developmental delays. Thank you. Yeah, Dee Dee's still onto delays. Thank you. Okay, so I think this is kind of showing us that we really want to know about these complications really early in the children's lives, so that we can help support them with therapies and treatment. So I zoomed in for you guys. This is the ad problems that these kids are having. But I really just wanted to point out that I think, especially with ophthalmologic abnormalities, it's pretty actually consistent across what we're finding across these brain midline brain defects of their, the problems associated and getting close to 50%. Obviously, it looks like the absent disc or corpus callosums with mild ventricular migraine have a lower rate of ophthalmic diagnosis is. And so 22 of our 100 children in this cohort had at least one diagnosis related to a midline defect. So the three really that we had though were bilateral nerve hypoplasia, unilateral nerve hypoplasia or an ophthalmia. I think another really interesting thing is we've kind of looked at the timing that these diagnoses were made. So excuse this tiny plot, but for the first two, for the isolated septum plucidum and complicated absence septum plucidum, these kids were diagnosed with these complications in the hospital. So we had someone came over saw optic nerve hypoplasia. And it's usually diagnosable very early, but the other types of visual impairment are going to become evident later. And so we had several cases in this cohort of optic nerve hypoplasia diagnose and then maybe retracted later in the clinical course, probably likely related to the size of neonates optic nerves. And then there's this question of MRI versus clinical diagnosis of optic nerve hypoplasia. So the MRI concern for optic nerve hypoplasia is not diagnostic, but is at very high risk of subsequent ophthalo diagnosis is and should be followed closely. So if we go back to our case, this is our the brain MRI of our infant that was born. This is him on day of life 20. So again, he's noted to have an absence septum plucidum. He's got flat roof rentacles and inferiorly pointed frontal horns. This is something that we kind of usually just incidentally when you don't have a septum plucidum. He has a partially empty cell in pituitary infendibulum. And then he has hypoplastic optic nerves. So the question here is at this point, does he meet criteria for septic optic dysplasia? And I'm going to answer it for you that we still don't know the answer because this is a clinical diagnosis. So we know that he has midline brain defects, so he's meeting one. And we cannot say about his ophthalmologic status without an exam. And then we don't know we although we know he has that risk for having endocrine abnormalities giving his empty cell. We don't know that yet. So we get a lot of reads on the MRIs, like especially prenatally that people have septic optic dysplasia, but it's not something that you can diagnose radiographically unless they have no optic nerves, I suppose. So he was evaluated by ophthalmology at three months of life, found to have hypoplastic nerves. He doesn't fix but function unsure. He's a young guy at eight months of life. He was seen again. He has hypoplastic nerves. He fixes briefly and then he responds to some lights and bright colors. And then at 15 months he has hypoplastic nerves. He's reacting to light and he's briefly fixating. And then at three years of age, he had exam under sedation, were we able to get this image? And so he had bilateral, moderate optic nerve, hypoplasia. And this is the first picture of his optic nerves in continuum, because he finally went for sedation. He wasn't a very cooperative guy earlier than that. So for our case, he was evaluated by endocrinology at day three of life. He had a little bit of a low random cortisol, but everything else looked okay. But then at one month of life, he represented to the hospital with failure to thrive and hyponatremia and was diagnosed with diabetes and sepidus. And in terms of his neurologic outcomes, he was diagnosed with infotaspasms at four months. He needs globally developmentally delayed, but he needs to make progress. So if we're looking, thinking about our patient on this graph, he kind of fits really, his prenatal diagnosis was isolated septum plucidum. So he's a purple fellow, but he did have a diagnosis of developmental delay, septic doctor's dysplasia at this point, optic nerve hypoplasia and endocrine abnormalities. So given that 60% of patients with similar prenatal imaging did not have this diagnosis, he's probably more on the more severe end for kids that were had isolated absent septum plucidum in utero. So some of the things to think about is optic nerve hypoplasia is diagnosed early, but other types of visual impairment may become later. And then kind of the things that we've talked about a little bit before MRI is helpful to know if we should continue to screen, but it's not a clinical diagnosis. Some of the future, I'm sorry, the conclusions, all again, things that we kind of mentioned before, but the farther you are on the midline brain defect spectrum, the worst things are going to be for you. And then multidisciplinary coordination of care is essential for these patients to have the most robust outcomes. Things we'd like to look for tons of them, but some specifically up to the ophthalmology related things is what's the visual function in these patients. So we have like diagnosis of optic nerve hypoplasia, but our cohort is quite young, most being under a year of age. So it's kind of, it's difficult to know at this time. And then what's the rate of optic nerve hypoplasia seen pre and postnatal MRIs and the coordination with the clinical exam? And then should we be considering other ophthalmologic diagnosis in our study? And what if we just took babies that had optic nerve hypoplasia on their prenatal MRI and then worked backwards to see like, did they have other endocrinoptermalities? We haven't done that. Special thanks to these folks that helped to write this paper. We're working to write this paper. And then Dr. Vodugunta for her feedback. Regarding timing of diagnosis of general hypoplasia, I find that it can be variable and I feel confident in saying patients sometimes I come in premature babies and sometimes they're not kind of, they're six months or older. Yeah. So it's, she says she feels sometimes she feels confident and less confident in premature babies and sometimes not confident until they're about six months of age of older. And curious to see what other peds ophthalmologists think about that as well. And I think that that was, I saw this in some of the cases and I really appreciated folks just following and tell me we kind of have a good idea of how that's going to shake out. But does anyone else have a comment on that? One place you could look at those optic nerves in neonates, we take photos on all the kids we do retinopathy prematurity screening exams. It is very common for neonates, healthy normal neonates with healthy nerves, no bad IVH or none at all to have what looks like a double ring sign. And that is what gives many folks the sense that a lot of these neonates have optic nerve hypoplasia where they clearly do not. In terms of the vision outcomes with optic nerve hypoplasia, having followed many, many kids and most of them here primary that vary in terms of the holopros and cephalos spectrum, I've been really unimpressed with my ability to prognosticate when we're seeing an infant with optic nerve hypoplasia. I mean, the kids who have basically a little nubbin of a nerve, you know, they're going to be visually impaired, but I give parents hope that things may be better than we think. And we start all of them on, you know, intensive vision support services early on, because early intervention has been shown to make the biggest difference in vision impairments when you do it early. So those kids need to be in there, but I'm not sure we have the answer yet to prognosticate in terms of vision outcome. This is a good thing you're doing. Thanks for the presentation. Looking at it from the complete other end of things, when we see adults who are incidentally found to have big visual field defects, they had no knowledge of. Obviously, many of them have, you know, gone completely through their childhood and young adulthood and they're bearing children. And the question for us is always, well, how much do you have to do as far as trying to look at their pituitary access? Because they seem to be okay. They survived their childhood. And so we have some suggested testing that we also do for them. It's obviously, as you go along, the chances that they've survived their childhood is a good indicator that they're okay. If you're interested in looking at more from that side, there's a huge cohort of kids with optic nerve hypoplasia being followed by Mark Bortchart in LA. Enormous numbers of children and most of them don't have any of the other issues. So it's kind of looking at the same ophthalmic outcome from totally different sides. And many of them are very visually impaired, but their pituitary is fine. The rest of their brain is okay, nothing major. He's got an enormous cohort there that they're studying, trying to figure out what it is that's causing it, not just diabetic mothers. Yeah. And Dr. Hoffman, you follow a lot of the patients that I've been looking at, so I appreciate you for that. Yeah. Thank you. Thank you. Appreciate it.