 Well greetings from Nepal. Sorry I can be here today, but thank you so much for letting me do this via The digital world a big thanks to Ethan for helping me record all this And I think it's also a nice highlight So all these videos are gonna be up on the Moran core website And this is kind of a nice example to show a lot of the work that we've been doing where We now have the slides as long as as well as the presenter, which I think is really fantastic So I'd encourage you guys all to go check that out My presentation today is going to be on retinal manifestations of juvenile dermatomyositis It's a based on a case report that we had of a bilateral diffuse Corioretinopathy and then in additional in addition a review of the literature of retinal manifestations of JDM So my case is a 13 year old patient who was previously completely healthy who presented a primary children's hospital With approximately a one month history of fatigue muscle aches nausea in five days of bilateral diffuse blurry vision She didn't report any double vision She didn't report any pain in her eye movements No flashing lights or floaters and otherwise just was feeling pretty good in terms of her vision But it was just diffusely blurry. She denied any recent sick context or any recent travel Her ocular history was otherwise unremarkable as was her past medical history in terms of her social history She lived with her parents here in Salt Lake City. She does not did not abuse any drugs or alcohol She didn't smoke. She'd have a dog at home occasional cat exposure with family members But otherwise was not sexually active and did not have any other notable risk factors Her family history. There was no autoimmune family medical history or ocular history She was using NSAID's PRN, but otherwise no regular medications and she had no known medical allergies On exam when we saw her in the ER she presented with a visual acuity of 2200 in both eyes her pupils were equal in reactive delight in accommodation. She had full motility No red desaturations in her confrontational fields were full to counting fingers Her bedside anterior exam was relatively completely unremarkable in terms of the anterior segment But her posterior segment was quite notable So this is a color fundus photo of her right eye and what you'll see and that's notable is that she Does not have any vitreous inflammation or haziness. Her optic nerves are exquisitely crisp Her vessels there are some tortuosities particularly to the retinal veins and then you'll notice that there's sort of a diffuse macular edema with sort of blunting of the foveal reflux As well as these sort of percher fleckin like cotton wool spots in the nerve fiber layer That are primarily located around the optic nerve and centered over the macula The left eye has a very similar picture. It is worth noting in the right eye. There are a few scattered intra retinal hemorrhages But these are not the predominant finding She obtained a fluorescing angiogram the following day in dr. Vitale's clinic and this is a early Phase of the f a and what you can see is that there is early retinal vasculature wall staining particularly of the retinal retinal veins or venules And as you progress through This is probably one of the most notable findings on her f a. She has this multifocal pinpoint hyper hyper fluorescent Changes of her rpe and her coreo capillaris There's still the venous vascular wall staining And You know this is sort of a diffuse process that was noted both in the right eye and the left eye at a slightly later phase Almost like a starry night type picture like you could see in sympathetic ophthalmia or vk h or similar syndrome And late you see the still see these pinpoint lesions with continued leakage And again in the left eye So there's just a panel of her color fundus photo as well as her Sort of mid to late f a findings Her oc t from that day what's notable is she obviously has significant macular edema with intra retinal cysts as well as a Subneuro retinal sensory detachment in both the right eye and the left eye Almost like a volcano you might say So in summary we have a 13 year old previously healthy Female who has now has a one month history of fatigue muscle aches nausea in this five day history of bilateral blurred vision and on exam Has a diffuse bilateral macular edema with associated cotton wool spots or perched fleckin like changes in an f a Demonstrating this sort of bilateral diffuse choridopathy with venous leakage So when we initially saw this patient it did somewhat remind us of a perchers like a perchers retinopathy or perchers like retinopathy with this Sort of diffuse cotton wool spot or nerve fiber layer involvement with macular edema That centered around the posterior pole particularly the optic nerve and macula and so our differential diagnosis was very broad initially She didn't have any known trauma, but As you know a number of autoimmune conditions or Blood dyscrasias were certainly in our thought process And so we did a pretty thorough work up along with the rheumatology team and the pediatric team to kind of sort things out a little bit This was her initial lab work up and i've sort of highlighted and read some of the important things Of note her protein and albumin were both very low her alfos ALT and sat were elevated indicating some dysfunction of Potentially the billier and liver system Her UA she did have granular cast and some trace protein And then she had an extremely high elevated ck and ldh Indicated of muscle breakdown and also an elevated triglyceride likely in response to her low protein and arena dysfunction You can see all the other laboratory work ups which were unremarkable including The significant work up for infectious Ideologies all of which came back to be unremarkable She had a further work up besides her lab work up that included Evaluation for her elevated muscle enzymes this included in muscle biopsy which demonstrated signs of diffuse myositis an emg Which concurred with those findings of myositis. She had an MRI of her many areas But her MRI of her pelvis was consistent with myositis Jen MRI of the brain and orbits which also demonstrated myositis of the muscles amastication and didn't show any evidence of optic nerve enhancement to suggest some sort of Optic nerve dysfunction in addition to the findings that we saw Her chest x-ray was unremarkable. So her hospital course. She was diagnosed with presumed dermatomyositis and associated rhabdomyelias myelitis She had a very aggressive Anti-inflammatory treatment that was initiated including Pulse of methyl prednisone and then a transition to oral steroids as well as initiation of Immune modulating therapy with methotrexate. She saw about every subspecialty group in the primary care system including rheumatology renal neurology cardiology ID psychiatry PMR PTOT nutrition And she had gradual normalization of her muscle enzymes Actually over about a two to four week period She was admitted either inpatient or in the PM in the physical medicine rehabilitation service Approximately two weeks after her admission. She developed sort of the classic heliotroporache Which is associated with juvenile dermatomyositis Which is of note. She's one of the few cases in the literature Where she had ophthalmic findings or retinal findings prior to manifestations of these skin classic heliotroporaches Post discharge just as evidence to the sort of morbidity of this disease as well as the treatment for the disease She developed HSV stomatitis. She required a g-tube for feeding. She had msa ssa bacteremia and also develops C. diff So obviously a very significant impact on her life From an ophthalmologic standpoint at her follow-up at one month Her visual acuity had improved significantly. She was at 2070 and 2050 Otherwise the rest of her exam anteriorly was unremarkable And at her one year follow-up provision had improved slightly more to 2050 and 2040 again the anterior exam was unremarkable So looking at those time points then at some of the other imaging I think what's important to have the right eye on top the left eye on the bottom and then three color images Both presentation one month and one year What's very noticeable is The dramatic improvement at one month There's still some residual cotton wool spots some residual intra retinal hemorrhages that are notable But they are significantly improved with the course of high IV steroids and oral prednisone that the patient was on initially And then you have near complete resolution of their retinal findings At one year with the exception of maybe some foveal Or some decreased foveal reflex at one year and the same can be seen in the left eye as well In terms of the fluorescein angiogram, this is a Just of her right eye and there's some time points in terms of early mid and late that are missing at the different points But I think again most noticeably if you look at from presentation to one month You see this dramatic improvement in this bilateral diffuse chord Opathy in this sort of pinpoint hyper fluorescent areas, which are basically completely resolved at one month And you also see a decrease in the retinal vascular staining There was some peripherally still at one month, but In general this was dramatically improved and then at one year. She has a completely normal fluorescein angiogram The same can be said with the left eye again very similar findings You do still have some blockage from retinal hemorrhages that were present and residual neurofiber Neurofiber layer infarcts, but otherwise dramatic improvement in the retinal vascular leakage And the same can be seen with her OCT with her neurosensory retinal Detachment subneurosensory as well as her significant intra retinal Edema is nearly completely resolved at one month. You can see she does have a very uh, oops Sorry at one month. She does have a very uh, small neurosensory Detachment in her left eye still And also very interestingly of note worth pointing out and we'll discuss later if you look at her Inner nuclear layer at one month. You'll see this area of hyper reflective band Both nasally and temporally And as you go to a one-year time point, you'll see that the area that was hyper reflective then has Correlated areas of atrophy at the one-year time point Um consistent with a sort of newly described condition of A maculopathy in this pattern Likely involving the superficial retinal nerve capillary plexus In terms of her initial outpatient medication regimen after she was Discharged you can see for a patient that was on no medications prior to admission and prior to diagnosis. She had a significant Uh medication load to treat both the primary disease, but as well as many of the side effects that then came from them Like to spend a brief amount of time just highlighting juvenile dermatositis Dermato myositis for those of you who may not be aware of it. It's a rare systemic vasculopathy. It usually occurs in young Children usually between five and ten a slight female to male predominance Between two and five depending on what study you look at and the sort of classic findings are the systemic muscular weakness The heliotraup rash you can sometimes have these gutron Papules which you can see in the picture in the lower right And then these associated constitutional symptoms, which were very notable in our patient You can also have a gi vasculopathy of note Which can cause a lot of issues with nutrition and other things In terms of treatment and prognosis Really the best sort of a long-term study looking at this was by this group in saner Which had 60 patients that followed them for an average of approximately 16.8 years Now the treatment for juvenile dermatomyositis has sort of trained changed dramatically over this time course, but looking at that Data you can see there's significant systemic morbidity associated with the disease and the treatment for the disease Fortunately the mortality which was as high as 30 percent in the early 1960s Has now decreased approximately two to three percent with the use of high-dose corticosteroids and immune modulating therapy Also of note Looking sort of epidemiologically approximately a third of these patients have a monocyclic disease Meaning they have one episode that then resolves and usually does not come back But the majority of patients will have either a chronic continuous course Which is more consistent with what our patient has unfortunately experienced or a polycyclic experience where they'll have multiple recurrences of disease In terms of ocular manifestations of juvenile dermatomyositis the largest sort of screening Study looking at this was a case review in toronto of 82 patients who presented with juvenile dermatomyositis and of those patients Approximately 45 to 50 percent of them had lid manifestations classic heliotrope rash 17 percent of them eventually went on to develop corticosteroid induced cataracts One patient had an asymptomatic small retinal hemorrhage much different than what was found in our patient And none of the patients had any evidence of uviatus or inflammation inside the eye In terms of a case review in terms of review of the literature Interestingly, there are very few case reports of retinal involvement in juvenile dermatomyositis This is a list of all the cases that are in the literature. So the first one was initially described by bruce in 1938 There was actually two cases At that point it wasn't called juvenile dermatomyositis, but was a myositis That was in a young patient that sort of had all the classic symptoms of juvenile dermatomyositis and has later been Considered to be juvenile dermatomyositis looking back at it. And what you can see is that you know Sorry for the very small print, but importantly there's a fairly even distribution of females and males and importantly at most A lot of these patients had these notable retinal changes which included cotton wall spots intra retinal hemorrhages macular edema and retinal exudates But a lot of these changes were not noted at presentation The cases that had retinal changes at presentation were bruce's one of bruce's patients our patient and then harrison's patient in 1973 all the other cases had Diagnosed myositis or juvenile dermatomyositis and developed them at a later time point And also of note most patients actually have very good recovery of visual acuity With the exception of a few patients described by munro and harrison who developed optic atrophy or macular scarring Most patients actually returned to 2020 or near 2020 vision our patient at 2040 or 2050 is Even slightly on the worst end compared to most people and that's probably related to her macular changes that were noted on her oct I thought I would just highlight a few of these cases historically Mostly because I think they're fascinating in their description This is the first case that was described by bruce in 1938 And what's remarkable is you know, this is not a photo that he took but a drawing that he did Has a remarkable resemblance to our patient and just unbelievable in terms of their artistic ability to demonstrate it He actually described three cases one of them was in an older patient. That was 26 years old, but two in juvenile patients And again a number of these other patients have similar finding stars Not exactly the same and a lot of them didn't have fluorescein angiograms or if they did they didn't have Similar findings to our fluorescein angiogram But had nice improvement in their vision with response to corticosteroids And resolution of this sort of perchers like retinopathy or these changes in the nerve fiber layer Again another case described by beta and this one there was an oct Did demonstrate improvement Over time and also interesting this this was the first one that had an fa And they demonstrated that there was some pre capillary occlusion on their fluorescein angiogram Which we didn't necessarily see on our fluorescein angiogram But this patient retained very good vision post-op or afterwards In terms of a few other cases, this is brusco. This is one of the patients that Again notable vision improvement going from 2060 and count fingers up to 2020 and 2030 And these two patients a 19 year or excuse me a 13 year old and nine year old patient And again, you can see sort of similar macular findings. You don't see the retinal tortuosity that we saw in our patients, though I also wanted to just highlight this is a actually really interesting and new description That's been kind of recently come out, which is this description of paracentral acute middle maculopathy This was actually first described by suraf in 2013. So it's a newly described Finding based on oct findings and it's this is actually the pictures of our patient Which is exactly what he has described and that is Again, you have this hyper reflectivity of the inner nuclear layer and he's actually described two types There's a type one which is hyper reflectivity of the inner nuclear layer supposedly correlating with the Inner retinal nuclear cap or retinal capillary plexus and a type two Which is a deeper in the sort of deeper retinal capillary plexus But again, you see this hyper reflectivity that then leads to atrophy, which has classically been described This is the first description of it in a patient with obviously juvenile dermatomyositis There's not been very many cases described So in conclusion, uh, I think important things to know juvenile dermatomyositis is a very rare systemic vasculopathy So it's not a very common presentation and presentation of it with ophthalmic retinal findings that is even a more rare occurrence There are a few cases of this sort of perchers like Retinopathy presenting in the setting of juvenile dermatomyositis This is the first case of the sort of bilateral diffuse choridopathy ever described in the literature in a patient with juvenile dermatomyositis And interestingly, it's also one of the few cases Where the retinal findings preceded classic heliotroporash and other findings It is not net not yet known interestingly whether the severity of ocular disease may have any impact in terms of the prognostic Any prognostic value in JDM and patients risk for a sort of chronic course or a polycyclic course There's just not enough presentations of patients with ophthalmic findings to really power a study to demonstrate this And one of the questions that's raised from this is you know, should all patients with Diagnosed with juvenile dermatomyositis have an ophthalmic Exam and you know, my thought personally is that that's probably unnecessary given that most patients Um Who have juvenile dermatomyositis based on the toronto study are not going to have ophthalmic findings And if they are they're going to be asymptomatic And those patients who do have significant retinal findings were all symptomatic And so I think you know those patients you're not by screening patients You're not going to be identifying additional pathology or uh patients and preventing morbidity Now the question may be if patients are symptomatic They shirt and certainly should be seen by ophthalmology and it may be advisable then to escalate treatment based on severe ophthalmic findings or retinal findings These are a list of my references And then also my acknowledgments here like to particularly thank dr. Vitale for his very kind guidance and helping me put together this case and review all the photography pictures Like to thank renai choy who's helping in addition with the write up for this patient and cj inman Who's one of the pediatric rheumatologists who's Participating the care of this patient over many years or over the last two years I'd also like to thank our moran photography department for their excellent work in terms of collecting just amazing pictures That really make a huge difference. So at this point i'll take We'll have an open discussion for any questions Dr. Vitale's here who can provide some guidance as well as renai for any questions that patients might have And if i'm able to skype or facetime with dr. Petty right now, I may be there in person. So thank you so much