 And as Josh alluded to, Chris Ricks will be giving us a brief overview or a brief review of Oculocutaneous Albinism. He is from UT Medical School in Houston, so welcome him. My name is Christopher Ricks. Glad to be here. I'm a fourth year medical student. I'm going to talk a little bit about Oculocutaneous Albinism. So when we think about Albinism, several images might come to mind. Maybe something like this. Maybe this. Maybe something a little more tragic like this. This is an article from National Geographic about the alarming number of albinos that are killed in places like Tanzania where people don't understand what they are and have false beliefs about magical powers that they might contain. So my goal is to kind of clear up some of these misconceptions and give us a review of what Albinism really is and what we can do about it. So a patient like this comes into your clinic. Several diagnoses are possible, including Oculocutaneous Albinism, Oculocular Albinism, Chediaki Gashi, Hemeniki Pudlak Syndrome, and Vici Syndrome, among others. So there are several important clinical findings that are common in almost every type of Albinism. The first picture here is Fovial Hypoplasia. To visualize this is with an OCT. You can see the top OCT is normal here and on the bottom there's no foveal pit and the neurofibrillator has overgrown, is overlying foveal. Another common finding is found on a retinal angiogram to get an invasion of the vasculature into the foveal and inocular area. This is a translumination technique that Josh talked about where you can see the light, red reflex coming off of the retina and shining right through the iris due to a lack of pigment. This picture you can actually see the outline of the lens which is pretty cool. A really important finding that I think we're all familiar with here because of Dr. Creel is the abnormal decussation of the visual pathway and pigmented individuals get 55-45% crossing and then individuals with Albinism get upwards of 90% they cross. This can cause a lot of problems with stereo vision and a good way to visualize this and to confirm it is with a VEP, normal individual you can see here on the left and on the right you can see what happens with individuals with Albinism. You get this reversal of the pathways. So some other important clinical features are pendulum stagmus which is different from normal and stagmus in the fact that there's no fast and slow phases. It's just a steady kind of pendulum like movement. Strabismus which can lead to amblyopia, photophobia, refractive errors, basically overall poor vision. There are several different types of Albinism that I want to talk about today. First is Oculocotaneous Albinism. There are seven main types. All of these are inherited in an autosomal recessive pattern and Oculocotaneous Albinism which there's two main types and these are all inherited in an excellent recessive pattern. So Oculocotaneous Albinism type one is due to a mutation in the TYR gene. There's over 200 mutations that are known in this gene, codes for tyrosinase which is the enzyme responsible for converting tyrosine to dopa and dopa to dopaquinone which are part of the pathway and inflammation of melanin. So there's two subtypes that we talked about a lot. Tyrosinase positive and tyrosinase negative. Tyrosinase positive individuals have some tyrosinase activity, therefore they have some melanin and overall better prognosis whereas tyrosinase negative individuals have very little to no tyrosinase activity. OCA type one is the most common type. Due to a mutation, the OCA2 gene which is formerly known as the P gene causes dysfunctional molyanosomes, has less visual impairment than individuals with OCA type one. I didn't just want to mention briefly, they're very rare, usually only occurring in certain subpopulations and worth noting, but I'm not going to go into a lot of detail right now. Oculoralbinism type one and two. Type one is also known as Nettleship Falls Oculoralbinism. This is inherited in an excellent recessive pattern so it's mostly a disease of males. An interesting finding is the carrier mothers can have what we describe as a mud splattered fundus. These patients use a very priori poor vision and you can diagnose this by visualizing macromelanosomes on a skin biopsy. OCA type two is a very rare type also inherited in an excellent recessive fashion. The next type I want to talk about is Chediakigashi syndrome. This causes intermediate severity ocular albinism. It's associated with recurrent pyogenic infections, dysfunctional lysosomes, and progressive neurologic abnormalities. Unfortunately, most of these patients don't live past childhood and you can diagnose this by visualizing giant azero-filic granules in the granulocytes. Another type that's important to recognize is Hermanski-Pudlak syndrome. This is most commonly found in individuals of Puerto Rican but also Swiss descent. This is associated with platelet dysfunction, bleeding disorders, interstitial lung disease, and granulomatous colitis. The last type I want to talk about today is called Vici syndrome. This was just recently classified in January of this year. It's the only form of albinism found on chromosome 18. It's very, very rare. Has several ophthalmic findings and overall systemic findings that are important. So you get bilateral cataracts, mild fundus hyperpigmentation, and bilateral optic nerve atrophy. The systemic findings include agenesis of the corpus closum, cardiomyopathy, and immune defects. So you can get characteristic abnormal fundus seen here. You can get an abnormal OCT, and this is kind of a poor OCT, but because of the extremely poor health of these individuals, this had to be done with a hand unit rather than the type we're used to. So you can see the lack of a foveal pit and a little bit of the overlying nerve fiber layer. So these individuals have very, very bad health problems. Vision is one of the least of their concerns, but it does help us with diagnosing what their syndrome is. So management of all types of these individuals. There's not a ton we can do for them, but what we can do is evaluate them regularly. Make sure we treat any misalignment present. Try to minimize any amblyopia that could occur. Maximize their visual potential with glasses and other low vision aids. Obviously recommend they still wear sunscreen, because skin cancer is a very real problem for these individuals, and refer them to a genetic counselor. So their prognosis. They're actually very much the same as the rest of us. They can have normal lifespan, development, intelligence, fertility, as individuals that aren't affected. Really, their biggest problem is poor vision. This is a family that I saw in the clinic yesterday with Dr. Hoffman. I told them I was giving this presentation, and they agreed to let me show their picture. So this guy here on the right or on the left, excuse me, 15 years old just trying to get his driver's license on the basketball team, 4.0 student, and his sister, the member of the volleyball team, and their normal happy individuals that aren't really any different than the rest of us. So, any questions? I want to thank Dr. Creel, who unfortunately couldn't be here today. He helped me with a lot of the photos, diagrams, and a lot of the information, including the Vici syndrome. And here are my references. Thank you.