 So our next presenter is Eric Weldy. He's a fourth-year medical student at the University of Tennessee And he's presenting on proptosis and insidious vision loss in a pediatric patient if you need them. Sure. Thank you so much Can y'all hear me? Okay So I'm going to jump right to it So the patient was a seven-year-old female initially presenting to an optometrist for annual screening exam And there she was noted to have significant vision loss on further questioning The patient was not aware of this vision loss, but denied any pain Also denied any other systemic symptoms like headache her past medical history was essentially negative and On examination the patient was 2020 counting fingers at four feet Previously she had been 2020 about a year ago at her prior Screening examination. She did have an RAPD and that left eye Pressures were normal. Matility was intact Slip exam was normal and I'll discuss her dilated funnest exam on the next slide here And as you can imagine given that she was counting fingers at four feet She had poor stereo She couldn't perform the color plate very well in that left eye And additionally she was a little bit proptotic with a difference of three between the right and the left eye And so here's the DFE which I want to spend a little bit of time discussing can notice starting with the normal Eye the right eye there's normal color here at the disc normal caliber of vessels Now compare that with the left eye immediately what sticks out is that there's power throughout the disc, you know edema Somewhat normal caliber of vessels and no macular edema as well Given the power which was suggestive of optic atrophy Some more imaging was done and an RFL was obtained which showed diffuse thinning throughout all quadrants of that left eye Additionally a visual field was done initially it was automated at first But there's total depression in the central 24 degrees of vision as a result a Humphreys was performed or Goldmont's was performed And you can see here since the left eye. I don't have the image of the right eye But in the left eye, you notice a paracentral Island of vision remaining temporary temporarily So we're differential diagnosis just to review we have painless vision loss We have proptosis and if you have to patient we have the optic atrophy We have that temporal island of vision So by far and away compressive is the first thing top that differential I listed others here just for the sake of completion But compressive especially with the presence of proptosis is the most likely and what exactly is compressing on the optic nerve? And again most likely would be tumor here We have no other reason to believe based off of the signs and symptoms there'd be any kind of Thyroid disease and a pediatric patient or will cellulitis or hemorrhage So given that there was a suspicion of tumor imaging was obtained And this I could not obtain the image from the large pediatric cancer hospital Memphis But I did get the readout which showed A retro bulb our intraconal mass lesion before I give it away. I just want to show There's a long laundry list of all the intraconal masses that you can see here and for the sake of time I won't go through all those But on MRI You can see an example here, which I included and here are some key buzzwords Fusiform enlargement homogeneous Well circumscribed as if contained by dura and iso intense compared to the gray matter and all of this Is consistent with an optic nerve glioma, which is what the radiologist called it as And so now I want to shift gears a little bit and just give a brief overview of optic nerve gliomas And more generally optic pathway gliomas. So it is a tumor Of glial cells which support the neurons to help form the blood brain barrier as well as assist with metabolic needs And the most commonly involved cell are astrocytes. They get their name because they look kind of like stars They have these long star like processes And one interesting thing as I was as I was reviewing the literature and reading a couple book chapters Is that I noticed there seemed to be kind of a controversy as to whether these are neoplastic in nature or whether they're hematomatous in nature And I myself am not sure which of the two camps they fall into I read one article that said pretty definitively Oh, they're neoplastic no doubt. They're invasive. They're aggressive They grow backwards sometimes. They're definitely neoplastic And then I read this other article by the ophthalmology plastic reconstructive surgery journal Which said they should definitely be called hematomatous because they're quiescent. They don't invade So I'm not sure which of the two camps they fall into. Maybe it could be a spectrum But of course your identification could spill ever into your treatment If you think it's more neoplastic in nature, you might treat it more aggressively And of course there is that strong association with NF1 which is seen in 60% of cases Overall, it's a pretty rare tumor three to four per 100,000 patients and it's diagnosed at a median age of 6.5 years In NF1 patients and sporadic patients. It's a little bit older. It's about eight years old But I thought that this uh graph here was really interesting So this is the age, uh, so this these are all NF1 patients in this study And this is the age at which NF1 patients were diagnosed with an optic pathway glioma And you'll notice that the vast majority are diagnosed before eight years of age There's a couple outliers here diagnosed 10 years and older But the interesting thing is based off of this graph The recommendations fit so patients need to get comprehensive eye exams Eight years and younger if they have NF1 beyond that they can go every other year That is a soft recommendation though and not a hard recommendation Um currently there's no required recommendation to do screening MRIs of all NF1 patients however And the pathophysiology is interesting So there's two camps to mentally organize these into those who develop optic pathway gliomas in NF1 and those with sporadic tumors And both share this common pathway So I like to think of neurofibromin almost like retinoblastoma It's a tumor suppressor gene and you inherit one bad copy So it's autosomal dominant and then every time that other bad copy gets knocked out which releases the brakes on this proliferative process Whereas in the sporadic case you get some kind of alternate RAS activating pathway outside of the neurofibromin tumor suppressor But both use this RAS RAS pathway, which maybe in the future that could be some kind of molecular target that we could use And so our patient she only had one cafe la spot. So she didn't meet the criteria for neurofibromitosis and was deemed a sporadic case So why is it so important to separate these two camps out into NF versus sporadic? Looking for things like leash nodules and plexiform neurofibroma. Well, it's because NF1 does have a better prognosis compared to sporadic cases It's more interior. It's less aggressive and as high as 50% are asymptomatic And you see here I constructed this kind of silly little chart here based off of The incidence and location of tumors seen at NF1 versus non-NF1 and you'll notice like I said earlier The NF tumors are more anterior and sometimes they kind of spill over from one segment into the next hence doesn't add up to 100 But the non-NF are more posterior and of course as you involve the hypothalamus, you're going to expect poor outcomes overall The clinical features are in line with what you'd expect with an optic neuropathy Decreased color vision rarely painful progressive vision loss And I don't actually know how common this is but I thought it was really cool So the enlarge optic nerve based off the way you turn your eyes Sometimes it can get kinked the blood supply can get kinked and that leaves the poor profusion of the retina temporarily Which can lead to gaze evoked vision loss And the symptoms or the physical exam findings are in line with the location So if it's an ocular location, you get proptosis Intercalicular pale optic disc and as you go further back into cranial, you're going to get raised ICP and precious puberty I just want to point out Of course, you can get atrophy in our PD like our patient But this I thought this finding was really interesting So an enlarge optic nerve can actually press on the back of the eye leading to refractive changes Specifically, hybropia and you can also get retinal stride and obticillator collateral where you get poor venous return Diagnosis thankfully is now made by MRI and you can look for these pathenronic findings like kinking You can look for pseudo CSF sign and luckily with the help of MRI We don't need to take biopsies anymore, which is great because it prevents further vision loss from biopsies And you also have the incidence of false negatives Prognosis so like with most tumors younger patients tend to do more poorly NF1 as I mentioned earlier is a better prognosis But otherwise it's very difficult to predict what these tumors are going to do There's a large variation in the rate that they grow and it's hard to know How these tumors are going to behave other than that general rule of NF1 versus sporadic cases So with that since you don't really know how these tumors are going to behave It's really hard to know when to treat these and Actually in talking with one of my oculoplastic attendings at my home institution He said that about 30 years ago every city had a different protocol for how they would treat these these tumors with optic pathway gliomas But as a recent I believe it was 2007 Fisher did a large retrospective multicenter analysis And he came down to these two basic tenets of when treatment should begin The first is functional loss greater than two snarl lines and the second is radiographic growth So it's of course taking these two principles together That can help you determine when to initiate chemo radiation and surgery And of course like I said so many of these are asymptomatic So it's hard. You definitely want to have a strict criteria of when to begin therapy chemo has a pretty Poor response about 50 percent require further treatment And it might buy you some time which is good because you don't want to irradiate Children given the risk of brain damage Radiation is a little bit better. It does improve vision And it does help with the 5 to 10 year survival, but there's all of these hosted adverse effects Particularly in NF1 patients given their propensity to develop tumors Irradiating them can predispose them to further neurologic malignancies And there's an incidence of moya moya, which is that Japanese retina's puff of smoke And finally there's surgery, which does result in irreversible Permanent vision loss and the three main tenets for this are if patient is already blind If there's severe proptosis causing cosmetic disfigurement or corneal exposure And final lesions threatening the optic chiasm, but again, it's rare for these lesions to grow backwards into the optic chiasm And so let's return back to our patient and see what therapy she received So given the degree of her vision loss, she was started immediately on chemo over at st. Jude and they turned it her with MRIs And unfortunately her vision did worsen And so she met the criteria for that significant decrease in vision as well as radiographic changes And so they started her on radiation therapy And they also trended her with scheduled MRIs frequently and unfortunately this is her actual MRI And I know it's kind of hard to see I apologize for that, but You can see she developed this new lesion right here right at her chiasm that had never been there before And furthermore her proptosis was continuing to worsen And so I actually spoke with the radiologist About this lesion and he said it it might very well be just reactive changes It could just be normal Tissue response to the tumor or it could be some kind of tumorous appendage growing off of the optic nerve glioma But most likely he thought it was reactive changes And so neurosurgery and oculoplastics did come on board And I actually got to see part of the procedure They put a suture under the superior rectus And they pull it laterally to open up this window here between the medial and superior And so you can imagine that the frontal nerve is at risk of damage here And in addition to the trochlear nerves at risk of damage here and all these little ciliary nerves which supply the cornea I didn't really understand as I was attending why medial rather than lateral And he pulled out this picture and he showed that with a medial approach You can avoid these nerves here by pulling this laterally and of course obviously you only want to remove cranial nerve too And so theoretically This medial approach allows better access without risk of damaging trochlear the trochlear nerve So this patient had a pretty rocky post-op course She did develop neurotrophic care topopy and developed numerous Corneal ulcers was given a tarsaur fee But um, they reversed the tarsaur fee per the patient's request and she developed another significant Corneal ulcer with corneal neovascularization And finally they decided to do gunners in black where they pulled the conge up over the cornea And she's going to be given a scleral show As I mentioned earlier, I'll just talk briefly about this One of the hopes is that we can further specify what type of tumors these are based off of the molecular diagnostics And uh, so this is an example of m m tour Lighting up here and hopefully we can also more specifically target these tumors So those are my references And I'll take any questions Uh