 So we're gonna go ahead and get started Our first presenter is Ligia Onofre. She's from the neurology service. She's joined us on the neural ophthalmology Side of things. She's jumped in been a real asset in clinic So she's gonna talk to us today about the ophthalmic manifestations of neurofibromatosis Good morning Can everybody hear me? great, so My presentations what was inspired by this gentleman who was a 33 year old gentleman who came into clinic because he failed his DMV vision test He had a pale optic nerve that was seen by his optometrist and When he came into clinic his visual exam had a visual acuity that was normal on the right eye a slightly abnormal on the left eye 2025 he had an APD and And the pale optic disc as well as this nodules he came in tell us he has some kind of NF1 But NF, but he didn't know if it was one or two So we made the diagnosis pretty much easily for him So we thought he probably had an optic glioma and we've heard him for an MRI the reports that I just saw last night Is that he has this kind of erosion to the petrus and occipital bones, but no glioma So we will need to get his MRI and look at it further So what are the characteristics of NF1? Well, it's first of all autosomal dominant disorder Locuses on chromosome 17 and it's thought to lead to a loss of transcription of neurofibromin It's very very common 1 in 3,000 live births And he has prominent cutaneous manifestations like cafe au lait spots Skinfold freckles and neurofibromas as well as hematometrist nodules of the iris It is commonly involving the bones in the face and you can see dysplasia of the bones there And there's a tendency to develop certain times of tumors, especially the peripheral and central nervous system There are several Variant syndromes and one of the more common ones is legia syndrome, which has cafe au lait spots Auxiliary freckling macrosephaly, but no peripheral nervous system tumors and there is no specific preventive treatment And so I wanted to go over the diagnosis criteria. You have to have two or more of the following More than six cafe au lait macrose greater than five millimeters in diameter in Puberto individuals and more than 50 millimeters in post pubertal individuals You have to have more than two neurofibromas or one plexiform neurofibroma Freckling in the axillary or inguinal region optic glioma more than two leash nodules Bony lesions and a first or first degree relative with NF1 Just to remind ourselves about NF2, which is often confused with NF2 is an autosomal dominant disorder that Has mutations in the tumor suppressor gene Merlin Schwannmann and chromosome 22 is characteristically presenting with bilateral vestibular Schwannomas and The most prominent optic manifestation on that one is posterior subcapsular cataracts. So a little bit different than NF1 So what are the ocular manifestations of NF1 as I learned there are way more than what we learned on step one For a medical school. There's presumed neurofibromas of the conjunctiva prominent corneal nerves Posterior ampute toxin leash nodules congenital octropial UVA Heterochromia iridus Neurofibroma of ciliary nerves plexiform neurofibromas of the island orbit glaucoma angle abnormalities Coratal hematomas choreo retinal scars congenital hypertrophy of the retinal pigment epithelium Milded nerve fibers Astrocytic hematomas optic nerve head gliomas optic glenus and strabizma So quite a few instead. I actually instead of going through everything. I chose to focus on the more common manifestations and Lish nodules are number one They are hematomas of the iris pigment epithelium and they look like dome shaped Papules that project from the surface of the iris Even though it's the most common manifestation. It's not pathodemonic And it's more prevalent with increasing age about 50% of age 5 up to 95 to 100% in adults over 30 You find them in all races and they're best appreciated by tendership broad beam elimination They vary widely in appearance depending on the background color of the iris in blue and green iris They look pale to medium brown with battery margins in a dark brown. They look cream color dome-shaped and extremely well-defined they are kind of present in a range in a random fashion and Because sometimes be just in the angle they vary in the size of the number So you can have as little as one small papule up to many many Lish nodules These are just some pictures of how the Lish nodules look Just kind of point to them And some more pictures in light color dyes So if you have Lish nodules, you can be affected. You can otherwise have no other manifestations You can find them in variant syndromes and you can find them also in patients with segmental neurofibromytosis Where just one part of the body is affected and the Lish nodules are usually on the affected side Even if they have no other optomic manifestations and very very rarely you can actually find them in cases of NF2 So the other really prominent a manifestation of NF1 is orbital facial manifestations So just to remind ourselves kind of why neurofibromas causes you can think of schwannomas and in casing the nerve and Causing localized compression, which is usually benign But cause mass effect versus a neurofibroma, which is composed of schwann cells pair neural cells in fibroblasts that infiltrates the nerve from which it arises Usually you have unilateral involvement as you can see in this picture and this picture However, you can have very rarely bilateral involvement like in the middle picture and nobody actually knows why It's more prominent than one side versus bilateral You can have upper eyelid swelling or fullness, which you can see in all the pictures Toes of the upper eyelid The lateral can't this can be detached You can get bone dysplasia of the scholar orbit proctosis and go dystopia and Then you can get dyplopia because of infiltration of cranial nerves three four and six And as well as cranial nerve five infiltration, which leads to facial numbness You can find strabismus angliopia as well as Condenital glaucoma that can cause an essay or S shaped toast is like the one in this Middle picture. This is the same individual at different stages in his life So when he's a young child kind of middle-earth hood and earlier adulthood and He had pretty aggressive Progression of his neurofibroma requiring many many resections So the most scary complications for a lot of people is optic pathway gliomas They're present in 15 to 20 percent of patients They are low-grade pyrolytic astrocytomas. They can go in the optic nerve optic chiasm optic tract and hypothalamus They are histologically benign usually a symptomatic. They can be non-progressive They can cause visual loss preptosis and endocrine abnormalities associated with precocious puberty Two-thirds of these tumors present by age seven and most of these are symptomatic. They affect pretty much The optic nerve been caused painless visual loss preptosis to bismuths and nystagmus and visual loss can vary from 2020 to no light perception You get visual field deficits with psycho-centroscotomas by temporal hemianopsia homonymous hemianopsia This is a picture of a little girl who had a quite Impressive optic nerve glioma in this eye. This is her MRI And you can see it over here and then this is her Globe after was taken out and you can see how thick This nerve is and this is her with a prosthetic This is another picture of an MRI from a different individual and you can see bilateral optic nerve gliomas what's interesting about gliomas is that you can actually have them bilaterally as opposed to the Displasia of the bones. They usually tends to happen unilaterally So for exam for gliomas look for an afferent pupillary defect You should look for optic dyscadema optic atrophy corridor folds this chromatopsia of tamaplesia Proptosis and nystagmus if you have it in the hypothalamus, you can have precocious puberty hydrocephalus headache nausea vomiting and Diplopia And especially in children these can be hard to detect initially On MRI or CT you can see fusiform enlargement of the optic nerve Kinking of the optic nerve enlargement and enhancement of the optic nerve chiasm or retrochiasm of visual pathways All asymptomatic patients with NF1 who are younger than 8 should undergo screening And then if you're over age, you should still undergo screening every two years until you reach 8 age 18 Our patient had not had any more screening after about age 12 So resection of optic nerve gliomas can be a treatment options if you have no vision if you have severe Proptosis or cosmetic concerns as well as pain in a blind eye Interesting chiasmal or retrochiasmal OPGs are considered not Receptible except for exothermic or cystic components. Some tumors can undergo spontaneous regression Entreatment includes observation surgical excision chemotherapy and radiation and I won't go in the particulars because that would be a whole Grand rounds itself So what are my conclusions and if one is extremely common one in three thousand births The most common manifestations are leash nodules, orbitofacial abnormalities and optic nerve gliomas And I just took out of this that there's such a wide spectrum of leash nodules and that optic nerve Gliomas is actually a screening is a really important part of NF1 care one that we should be more sensitive to as Neurologists when we tell our patients kind of what the spectrum of care should include That's it So next we have Akbar Shakur We've had two years of Akbar and it's been amazing from a resident perspective We're really gonna miss him, but I'm glad to know that he's going into academics So at least he's lucky New Yorkers can enjoy himself