 Hi, my name is Tara Hahn. I'm a resident here at the Marine Eye Center, and I'm going to be presenting a case of neurofibromatosis type 2. So this is a 12 year old girl who was originally diagnosed with neurofibromatosis type 2 in June of this year. She presented to the Neurophthalmology Clinic for a baseline eye examination. She was referred by ENT. She had no subjective visual complaints. Her imaging was reviewed and revealed a left acoustic neuroma, right facial nerve tumor versus an acoustic neuroma, and bilateral small trigeminal schwannomas as well as a left cervical spinal schwannoma. Her ocular history was significant for a history of myopia, but no strabismus, and it had been noted that in the last two to three years it was difficult to correct her visual acuity to 2020. She has a surgical history of a right cochlear implant and a left craniotomy for excision of the acoustic neuroma. Her family history is negative for neurofibromatosis or for hearing loss, but her father does have keratoconus. Her best corrected visual acuity was 2040 on the right with pinhole and 2025 on the left. There was no APD and either eye and her extracular movements were full. Her right optic nerve showed slight elevation superiorly and nasally and in all quadrants in the left eye. Her vessels were noted to be tortuous in the left eye. There was no red desaturation in either eye and there was full color vision in both. Her hotel measured 22 millimeters in both eyes. She had an isophoria that was worse in right gaze. She was also noted to have a right head tilt on exam, which was not consistent with the photos that were reviewed from two years ago. She had a left beating nystagmus in primary gaze, which was small amplitude and low frequency. And she had an up beating and left beating nystagmus on fundus examination. Because of the abnormal appearance of the optic nerve, ultrasound examination was obtained, which showed calcified drusen in both eyes. And this is axial T1 post contrast with fat sat, which shows bilateral vestibular schwannomas here. This is T1 pre-contrast and you can see the abnormal appearance of the left lateral rectus muscle here. And this is again post-contrast, so you can see enhancement of the left lateral rectus muscle. And then also, as well as enhancement of the soft tissue surrounding the left lateral rectus. This is an example. She has a cranial nerve 3 schwannoma enhancement there, some enhancement back here. This is diffusion, which again shows some enhancement in the area of the left lateral rectus. And ADC. And this is T1 post-contrast. This is a CT coronal. Unfortunately, there were no coronal cuts of the MRI scan, but you can see here that the left lateral rectus is enlarged, especially compared to the other rectus muscles on this side. So our questions are, what's the next step in her case? What's the reason that she isn't seeing 2020? Is it because she has nystagmus? Could she possibly have an optic neuropathy? And is the left lateral rectus mass concerning and should a biopsy be pursued? And then there was originally some concern with the radiologist that maybe she had an optic nerve sheathmen and geoma on the right. Subsequent review, they didn't think that they saw it, but is there any evidence of that? And then I'll just quickly talk about neurofibromatosis. So there's type 1 and type 2. Type 1 is much more common. It's associated with CAFE, LA spots, neurofibromas, axillary freckling, optic pathway gliomas, leash nodules. And then neurofibromatosis type 2 is associated with meningiomas, schwannomas, cataracts, epiretinal membranes, and appendemomas, and astrocytomas. So NF2 was a multiple neoplasia syndrome from mutation of MF2 suppressor gene. Bilateral vestibular nerve schwannomas are patho pneumonic for NF2. But schwannomas of the cranial nerves, spinal nerves, or peripheral nerves are also associated with NF2. Meningiomas, appendemomas, and astrocytomas can occur, but neurofibromas are actually very rare in NF2. Several studies have noted that the first ocular manifestation of NF2 in the younger population is visual loss or diplopia. Posterioria subcapsular cataracts or peripheral cortical cataracts are common, but these may or may not be visually significant. Epiretinal membranes, optic nerve sheath meningiomas, retinal hameratomas can all occur with NF2 as well as optic dyscliomas, which as you saw are associated with NF1 as well. Matility disorders can occur as a result of tumor growth, and then peripheral facial nerve palsy resulting in exposure care topathy can occur, and this can either be from involvement of cranial nerve 7 or enlargement of a vestibular schwannoma or cerebellum pontine angle tumor. And then here you can see this is anterior and posterior subcapsular cataract, retinal hameratoma, combined pigment epithelial and retinal hameratoma, and then an optic nerve glioma. And I'll go back to the questions. Well, this is a very unfortunate case, obviously, for this young girl. So in terms of what the next step is, I think that in terms, there's really no urgency about doing anything related to the eyes right now. This patient has multiple lesions and they're large and they're producing issues all of their own. So the nystagmus, of course, is probably cerebellar induced rather than related to diencephalic types of, you know, seesaw or something like that, and probably not due to lack of vision. So I think we're probably looking at nystagmus, and, you know, nystagmus can blur the vision, depending upon how much it is in primary and whether there's a good null point. It can certainly cause blurred vision to 2020, 2030, 2040, and can have a perfectly normal afferent pathway. So it's hard to know what the 2030 means without actually examining her in a little bit more detail. We know that she has optic nerve drusen, and I'm not aware of any relationship between NF2 and optic nerve drusen, but it is curious that they're occurring. The things that I've seen in optic nerve drusen that are, of course, concerning is that here's a patient who could have or may have had or may in the future have increased intracranial pressure, and I think the combination of drusen with increased intracranial pressure does have a high risk for vision loss, more so than either one alone. So I think that's something to keep in mind that early shunting, if the pressures are noted to be high is something you may want to consider. So is the left lateral rectus mass concerning? Well, yes, all the masses she has are concerning, and if you're asking me, well, what do we think the tissue type is, I think that's probably less important because it's probably a neural derived tumor. And we know that meningiomas occur preferentially in NF2, so is this an orbital meningiome? I didn't really see any bone hypostosis or erosion. It looked like it was mostly contiguous with the lateral rectus muscle. You wonder if it may be some sort of a plexiform neurofibroma involving the lateral rectus, and so if you went into biopsia, you'd actually be biopsying the muscle, and that might be reasonable if you were concerned about the diagnosis or whether this could be considered a malignancy, but I think mostly it's a matter of curiosity. That's not her major issues right now. And if you needed to, she stabilized, and then she has no deviation, I believe, in primary gaze. She only has a problem in eccentric gaze, so she'll use a slight head turn. She'll be completely adapted. If she were to develop duplopia or start to, she's too old to think about some sort of amblyopia, but if she were complaining of duplopia that was significant, I think you would do a muscle surgery and just take care of the deviation, or perhaps do a Fodden procedure in the other eye as some way of trying to mitigate the eccentric duplopia. But I personally don't think it's necessary to biopsia at this time, and certainly if you excised it, you'd be excising the lateral rectus, which obviously is not going to do her any good. Is there an optic nerve sheath meningioma? Well, there certainly didn't seem to be an obvious optic nerve sheath meningioma, and optic nerve sheath meningiomas aren't usually associated with optic nerve drusen, and so I don't think that that's the relationship. Sometimes in optic nerve sheath meningiomas, you'll get swelling of the optic nerve, and you'll get these cytoid bodies, which then can calcify, so you sort of have not actual primary drusen, but sort of secondary drusen, and so I don't know what to do. The problem that I've run into in a couple of these patients as they age is that they have de novo tumors. This is not watching an optic nerve sheath astrocytoma that's getting a little bit bigger over time. This is new lesions occurring all over, and of all the lesions that were mentioned, there were several others in the imaging that were there that weren't mentioned. I think there was a problem with cavernosinus. There's a whole bunch of problems, and you're not going to keep up with this as you have nerve growth factors that are still active and haven't been shut down in any from causing the damage that they caused. So it's a very concerning case. It's certainly unique as many of these cases tend to be, they all have unique presentations, but I don't have too much more to offer in terms of management of her disease. Are there questions about? And F2 always shows up on the O-caps and always shows up on the books. Thank you, Dr. Feldman. That discussion was just excellent. Those were two great patients. So we're going to go ahead and get started with our actual... Well, Randy's filling this out. It's my great pleasure.