 Thank you Kyle. So our next presentation while we get it all set up here is by Elizabeth Slett. She's joining us here from the University of New Mexico. Interesting thing to know about Elizabeth is that she is an avid cook. She has a particular interest in Indian food. And her most recent dish that she's perfecting is pulau. So she's going to be making that for us all later. Thank you for the introduction. My name is Elizabeth Slett and today I'm going to be talking about Marr Fan Syndrome. We're dissecting connective tissue disease and the eye. And so although you don't need a connective tissue disease to do this yoga pose, I thought it was, highlights the theme of our talk today of connective tissue disorders. And so this is actually Kapotasa, which means pigeon and Sanskrit. This is a famous yogi, labruga, glacer. Okay, so we're going to start with a case presentation. And this occurred over the last two weeks when I was on service with the retinic clinic. So we have a 26 year old female who presented to clinic and she had woken up with some stringy floaters in her vision. And it was worse infrotemporally. She denied any flashes, sudden vision loss, recent trauma or migraine headaches at the time. For her past ocular history, she does have Marr Fan Syndrome. In 2005, when she was 12 years old, she did have a topiolentus in both eyes that was repaired with an AR 40 lens. And it was iris sutured in the sulcus in both eyes. Then in 2011, that lens dislocated. This is when she was 18 years old. And the lens was replaced with an MA 60 AC 17 diopter lens. And that was in the anterior chamber with haptics in the sulcus and it was sutured to the iris. And that was just in the right eye. And then in 2015, when she was 22, that lens dislocated. And it was replaced with an artisan lens. It was 10 diopters and it was part of a trial. So for her past medical history, she does have aortic root enlargement. She's followed by cardiology for that, as well as mitral valve prolapse without regurgitation. She has had an ablation for an arrhythmia. And she's had a spinal fusion for some kyphosoliosis that she has. Her medications include low certain and her family history is positive for Marfan syndrome in her father. He died of an aortic dissection at 40 years old. And then her brother also has Marfan syndrome. And he has aortic root dilation. So going back to the case presentation, she on exam, her vision was pinholing to 2030 in both eyes. Her pupils were irregular, though, and minimally reactive, although she didn't have any PD. And her pupils maximum her full extent of dilation was about 2.5 millimeters. And you can see that in this photo here. So any view to the back of the eye was pretty difficult. So a retinal tear was found at 12 o'clock and she was treated with laser retinopoxy. But then eight days later, she had some new shadowing in the vision in her left eye. And her vision was now 2050 in the left. A B scan showed an inferior rd. And she was scheduled for surgery. And here you can see an optos photo of the left eye. There's a superior retinal bolus retinal detachment. And the macula is still on at this point. So then five days later, this is the day before her scheduled surgery, she presented to clinic again because she had even worsening vision loss. And now she was count fingers at three feet in the left eye. The view was pretty difficult through her really small iris, but we were able to see a bolus retinal detachment. And we're unsure if the macula was on or off at the time. She had been cleared by cardiology because of her history of cardiac issues. And we discussed doing the surgery that afternoon or the next day. And she decided to proceed with her scheduled surgery the next day. So our surgical plan was to do a scleral buckle with the endo laser and silicone oil, and then removal of the artisan lens and the left eye. So here I have a video intraoperatively of the removal of the artisan lens. Just watch that again. Okay, so after we removed the artisan lens, her iris was pretty hypoplastic. So it required that we placed iris hooks so that we had a better view of the periphery. And actually hypoplasia of the ciliary muscles is very common in Marfan syndrome. And so here we have a screenshot of the intraoperative video showing the bolus 360 retinal detachment. And we knew that she had a tear at 12 o'clock. But we also found that she had a new tear at six o'clock. And in Marfan syndrome, about 80% of patients from the study I found have retinal detachments and about 60% of those are temporal retinal detachments. Occasionally they'll have giant retinal tears about 11% of patients. So here's another video intraoperatively. We had difficulty visualizing the lateral rectus. It wasn't in its native position. She had had a history of strabismus surgery. And so the we were trying to locate the tenons versus the lateral rectus because both were very flimsy. And we ended up finding the lateral rectus about 10 millimeters posterior to the limbus and the superior rectus was about 10 millimeters posterior to the limbus as well. And so in Marfan syndrome, strabismus is a little bit less common. It happens in about 9 to 10% of patients. So you can see how flimsy the lateral rectus is there. Some other interesting findings intraoperatively were that her axial length in her left eye was just over 30 millimeters. And even in a Marfan's patient the average axial length is 25.25 millimeters. So this just shows how large really her eye was. So for the summary of her operative procedure, she had a large 7 millimeter tire placed PPV was performed with air fluid exchange and a laser of the retinal tears. And then she had nine milliliters of silicone oil filled. And that just shows again how large the eye really was once the ridge is about seven milliliters. Okay, so we're going to review Marfan syndrome a little bit. And here are some famous people who were alleged to have Marfan syndrome and do have Marfan syndrome. This is Egyptian pharaoh to in common. And he actually died at 19 years old after he took over the throne for two years. He died of a dissecting aortic aneurysm. And then this is Vincent Chiavelli. He's a famous actor who starred in many films, but one of them was fast times at Richmond High. Okay, so Marfan syndrome. It is caused by a mutation in the FB one gene and FB one encodes for fibrillin, which is a glycoprotein. And the glycoprotein makes up components or fibers of the extracellular matrix. So you can see here, the extras, the fibers are sort of like arms that help the cells connect with each other. They help the cells with movement. And in Marfan syndrome, there are high concentrations. Well, in anyone, there are high concentrations of fibrillin in the cardiovascular system in the ion and joints. And this is where Marfan syndrome patients are most affected. And it's inherited autosomal dominantly, which we can see in our case, because her father and brother have Marfan syndrome. So some clinical features of Marfan syndrome, you can see the dissecting aortic aneurysm pectus excavatum where there's a concave shape of the chest. They have very long limbs, very long arms, fingers. And kyphoscoleosis is also common. So in the eye, they tend to have low keratometry readings. In the average Marfan patient, it's about 40.8. And in our case, it was 40.2 diopters, controls were about 43.4. Although in this study that I found keratometry readings of greater than 41.5 diopters in patients who do have Marfans, they didn't end up getting ectopiolentus. So it seems to be the thicker the cornea, the more protective it is from ectopiolentus. So ectopiolentus is another common finding about 80% of patients do end up getting ectopiolentus who have Marfan syndrome. It's a beautiful photo that James took. And so just a little bit of information about the differential for ectopiolentus. The number one causes trauma. And then some other inherited or connected tissue disorders, Marfan syndrome, homosistineria, Ehlers-Delma's, Serge Weber and Conradie. And with Marfan syndrome, you can distinguish that from homosistineria because the subluxation is infronasal and homosistineria and suprotemporal and Marfan syndrome. So you can see my little diagram of the face to remind you of how the lens changes position. And so just a quick highlight of other connected tissue disorders is another famous yoga person. And she's doing a pose called parzvedondasana, which means side staff pose. Just to highlight the hyper flexibility of joints that's seen. So in osteogenesis imperfective, that's caused by a mutation in type one collagen the WNT gene, blue sclera is common in thin corneas and the blue sclera is present because the core it is peaking through. Ehlers-Delma's is caused by deficiency in many different enzymes in the collagen synthesis pathway, but spontaneous corneal rupture is very common from minimal trauma or just spontaneously. And then splarocornia is also seen you can see the tissue fragility here, hyper flexibility, the skin. And then with Alport syndrome that's caused by a mutation in type four collagen. It's excellent to associate with hearing loss and nephritis, which usually leads to kidney failure. And then anterior leptochonus is pretty path mnemonic for Alport syndrome, as well as crystalline deposits around the macula. So thank you to the Moran imaging department for helping me create all these wonderful videos and photos. And here are my references.