NOAH Virtual Conference 2020: Day 2

Day two of the National Organization of Albinism and Hypopigmentation (NOAH) began bright and early at 8:00 am PST and, again, not so bright and early at 10 am CST where I live. Day one really got me excited to learn and interact more.

This post is packed full of information, so it ended up being quite long. Grab a bag of popcorn.

Latest Albinism Research

This was the first session of the day, and I was excited to check out some new albinism research. This panel included presentations by:

• Murray Brilliant, PhD
• David Adams, MD PhD
• Brian Brooks, MD PhD
• Joseph Carroll, PhD
• Donna Appell, R.N.

Dr. Murray Brilliant

Dr. Murray Brilliant led us into this session with a discussion on what we know and what we don’t know about albinism. We generally know the genes responsible for albinism, but it cannot be explained for all persons with albinism. We know so many of the vision issues related to albinism, but we do not know exactly why these issues come about. We don’t know when these issues happen during growth or what tissues are involved. There are drugs that can be used to help improve vision, but we do not know when and how it is safe to intervene safely with these medications.

• Albinism is a congenital abnormality of melanin synthesis.
• It always includes specific vision abnormalities.
• We have oculocutaneous albinism (OCA) and ocular albinism (OA) along with Hermansky Pudlak Syndrome (HPS)
• Albinism is a huge spectrum
• The vision conditions of albinism are also a huge spectrum

Dr. David Adams

Next, Dr. David Adams discussed the aim of his natural history albinism study. This is an NIH study. Its main goal is to understand albinism, how it affects a person, and how that changes over time. The study also investigates how treatments might improve the symptoms of albinism and how we would know if that treatment worked.

This study was open from 2009 – 2019 and saw 139 participants with albinism (210 participants in all including family members). The ages of participants ranged from 1 – 74. Participants traveled to the NIH where they were assessed via interviews, blood tests, skin biopsies, occupational/visual therapy, and some had hearing tests and other studies.

The study is currently in a data analysis mode focusing on reviewing the data, following up on any leads that may arise, working on collaborations for new study directions, and considering a study to ask new questions.

• Is vitamin D lower in people with albinism than people without albinism?
• How do we measure changes in vision and pigmentation in people with albinism?
• WHy can’t we find the causative genetic changes for some individuals with albinism.

Is vitamin D lower in people with albinism? Vitamin D is important for bone health and other body functions. This study asks if avoiding UV lights leads to a vitamin deficiency. A preliminary inspection of the data suggests that people with albinism should monitor vitamin levels and take a supplement if necessary.

How do we measure changes in vision and pigment in people with albinism, and why is it important? Measuring these changes would allow us to track development throughout a person’s lifespan, and determine if a treatment helps to improve a person’s life. Sometimes measuring aspects of albinism is challenging.

Only 68% of those with albinism in the study have known genetic markers for albinism. Understanding these genetics helps guide the development of treatment. His lab, along with others, is working to sequence more genes and discover other genetic abnormalities that may lead to albinism.

Dr. Brian Brooks

Next, Dr. Brian Brooks is a researcher interested in studying the specific eye conditions related to albinism and finding treatments for those eye conditions. He focuses on OCA 1 and OCA 2. OCA 1 is caused by mutations in the Tyrosinase gene, which begins the process of making melanin in our bodies. It is the most common form of albinism in North America. OCA 2 is caused by mutations in the P Gene that affects the compartment where melanin is made and stored in the cells. It is the most common form of albinism in Sub-Saharan Africa and the second most common in North America.

The eye conditions related to albinism are stable and do not generally change over time. They are present at birth. There are likely multiple causes for these eye conditions in albinism.

He discussed in detail the inner aspects of the eye as well. The macula is a component located at the back of the eye, and it is where light from the lens is directed as it enters the eye. The center of the macula is called the fovea, and in people with albinism, the fovea does not develop properly (called foveal hypoplasia). This underdevelopment leads to poor visual acuity because the fovea is responsible for fine central vision. This is thought to be caused by the lack of pigment in people with albinism in that the lack of pigment causes parts of the macula to develop differently.

The fovea begins development during the second trimester and continues a few years after birth. This fact is important, because it means that this foveal hypoplasia may be treatable in the future with early intervention. Treatment may include something called Induced Pluripotent Stem Cells, which are different from embryonic stem cells. For more on this topic, check out this website.

Dr. Joseph Carroll

Dr. Joseph Carroll is a researcher at the Medical College of Wisconsin focusing on the retinal structures of albinism. His team works to accomplish three primary goals:

• Characterizing foveal anatomy
• Examining the rod photoreceptor mosaic
• Measuring melanin

They strive to use noninvasive measurement tools in their measurements. Their research compares reprogrammed stem cells (like those mentioned above) of those with albinism to those without albinism.

Even though the fovea is underdeveloped in everyone with albinism, each person with albinism can have a fovea with differing levels of development. He went into great detail about the fovea, its development, and all its parts.

The eye also contains two important types of cells in the back of the eye called photoreceptors: rods and cones. Cones are responsible for vision at higher light levels, color vision, and spatial acuity. Rods are responsible for vision in low light.

Cones are often studied with albinism and are thought to contribute to the decreased visual acuity in albinism while rods are often left out of these studies. Rods may contribute to conditions related to albinism including nystagmus, increased light sensitivity, increased refractive errors, and more.

There are very few studies on rods and their impact on albinism, but animal studies have found that animals with albinism have 30% fewer rods when compared to their non-albino counterparts. In his imaging of people with albinism, Dr. Carroll found that rod numbers are within normal limits.

The amount of melanin in people with albinism varies so widely, and these pigment differences also affect the retina, a part of the eye called the fundus, and more. Using zebrafish, Dr. Carroll and his team are developing new methods of measuring melanin levels in the eye. The ability to measure and quantify the amount of melanin in the eye will allow for more accurate studies and analyses.

Donna Appell, R.N.

At the end of this session, Donna Appell spoke about Hermansky Pudlak Syndrome (HPS) and the importance of getting testing for the disorder.

It was discovered in 1999 by Dr. Hermansky and Dr. Pudlak when they found that a patient with albinism had pulmonary fibrosis. There are eleven genes currently known to be responsible for HPS. They currently know of 45 different countries with people who have HPS, and it is very common among the Puerto Rican population.

In albinism, people generally lack tyrosinase, which is responsible for melanin production, but in HPS, people have plenty of tyrosinase but it does not reach the typical melanin production sites. This is what causes albinism in people with HPS.

HPS has albinism as one of its symptoms, but it also has other symptoms including a bleeding problem, inflammatory bowel disease, and lung disease.

Often, people seek out a diagnosis if they have experienced abnormal bruising, nose bleeds, fatigue caused by anemia, and other similar symptoms. A blood test is used to diagnose HPS, and doctors will look at platelets (clotting cells) to see if they are abnormal or not. The presence of calcium in the cells makes normal cells appear with black spots (chocolate chips), but in HPS they have no black spots (butter cookies). This blood test is fairly easy to get with some stipulations, whereas a genetic test can be expensive. Contact the HPS Network for more information on getting tested.

If you have albinism, it can be important to get tested because a clotting disorder can turn small procedures into big ones. Bleeding can also be exacerbated by NSAID medications like motrin or ibuprofen. If you don’t get tested, just be aware that HPS is a possibility and let your doctor know before any procedures.

People with HPS often have more pigment and can be misdiagnosed as having ocular albinism, but the amount of pigment can still vary widely in those with HPS.

You cannot have a genetic diagnosis of albinism (OCA1, OCA2, OA1, etc.) and also have HPS. If you have one child with HPS and another child with albinism, that child will also have HPS.

To learn more about Hermansky Pudlak Syndrome (HPS) check out the HPS Network.

You can watch this session on Vimeo.

Taking the Angst Out of Literacy Media Decisions

This meeting took place over Zoom, and it was my first official multi-person Zoom meeting. For those of you who don’t know, Zoom is a video meeting platform with both video and audio communication capabilities. It has the ability to host up to 100 people in a meeting, and has been widely used throughout this Covid-19 pandemic.

This session’s focus was on developing literacy among students who are blind and visually impaired via print, braille, and audio mediums. Also discussed were the topics of Learning and Literacy Media Assessments and Assistive Technology.

Kathi Garza, M.Ed. TVI & Chrissy Cowan, M.Ed. TVI

Kathi is an adult with albinism who works as a TVI at the Texas School for the Blind and Visually Impaired. Chrissy Cowan is also a TVI.

Learning and Literacy Media Assessment (LMA) is a required evaluation for enrolling into some programs for the blind and visually impaired and can be done as early as birth.

Typically, visual or tactile media is first and auditory comprehension comes next.

The focus for this session is reading and writing fluently. Skills required for this task are:

• Phonemic awareness is the ability to hear and decipher varying sounds. It can be encouraged through talking to your child, music, reading, finger play, and more.
• Phonics is making the connections between the sounds and letter symbols. These are generally taught in pre-school, kindergarten, and early grades. It involves putting sounds together to build worlds.
• Fluency is the ability to read with speed, accuracy, and inflection. This is where challenges will often be recognized in children who are blind or visually impaired.
• Vocabulary are the words we are familiar with, and it increases as we age, speak, read, and experience the world.
• Comprehension is the ability to understand what we’re reading.

Listening skills

Discriminative Listening is developed early and is the ability to discriminate between what we hear. Comprehensive Listening involves understanding the message that is being communicated. Informative listening is listening to learn, and Critical listening is listening to evaluate and analyze.

Listening skills related to literacy include the ability to listen to audio materials (books, internet, radio, and television), listening to a screen reader while using a computer, and more. They are learned through regular exposure and understanding of print and braille formats.

Listening to auditory materials does not replace print and/or braille literacy skills! This puts people at a primary disadvantage in experiencing their world.

Chrissy Cowan recommends the book Learning to Listen and Listening to Learn, which has an entire curriculum for teaching essential listening skills from an early age.

The Office of Special Education Program’s (OSEP) letter dated June 19, 2013, specifies: Braille instruction must be provided unless the Individualized Education Plan (IEP) determines it is not appropriate for a particular child. The data must be based on a “thorough and rigorous” evaluation. Braille is the default for children who are blind and visually impaired, and children must include a range of multiple learning modalities including auditory, tactile, and visual.

The two presenters continue to cover what goes into many of these assessments, how they decide where to start, the IEP, instruction, and more.

I had to leave this meeting early so that I could make the next one, but I will update this section as soon as the video recording becomes available. Check back soon.

You can watch the full session on Vimeo.

Ask the Doctors: Adults with Albinism

This session also took place over Zoom. A request for questions was made during the previous Latest Albinism Research session. I saw several excellent questions and even submitted one myself, so I looked forward to this meeting.

Panelists include:

• Murray Brilliant, PhD
• David Adams, MD PhD
• Brian Brooks, MD PhD
• Donna Appell, R.N.
• Sasha Strul, MD
• Rick Thompson, O.D., FAAO

The following is a summary of the Q & A that took place.

What are the statistics for skin cancer in albinism?
Dr. Brilliant: We have the information for other countries in Africa. Approximately 60% of people with albinism develop skin cancer typically by age 40 in those populations. In the US and Europe, people tend to cover up and use sunscreen more, so the incidence is reduced there. People with albinism should be screened regularly by a dermatologist for skin cancer.

Are there any genes with albinism that are related to mental health?
Dr. Adams: We have had study participants with autism, but have found no relationship between albinism and autism. An increased incidence of ADHD among children with albinism has been found that suggests a link may be there. That research may need to be followed up on, but it takes some effort to disentangle problems that may be related to vision, visual cues, and things going on in the classroom from a real genetic connection.

Are we trying to fix people with albinism?
Mrs. Appell: None of the researchers are saying or implying that anyone with albinism needs to be “fixed.”

Are there promising studies that might increase melanin in the body?
Dr. Adams: Not currently. Studies at the NIH have really focused on vision and have been too small to demonstrate an effect. There are a few different directions that we’d like to go. There are some promising leads coming from research now.

Does albinism have any relationship with diabetes?
Dr. Brooks: It is not primarily connected with albinism. I’m not aware of any specific association between those two.

Could you explain why nystagmus developes? Can it be quantified? Is the rate of the nystagmus reflective of visual acuity?
Dr. Strul: Nystagmus is not due to the fact that you have albinism, it is due to the fact you have reduced visual acuity. A person with reduced visual acuity in the first few months of life can develop nystagmus. It can change over time. We can rate if it is horizontal, vertical, or torsional (rotary). We can talk about whether it is a higher frequency or lower frequency, and we can discuss its speed. We know that the more oscillations there are, the worse vision tends to be, but this is not an exact science. In general, the worse the nystagmus, the worse someone’s vision is expected to be.

Are there any successful surgeries being done to improve nystagmus?
Dr. Brooks: If a person has an anomalous head posture (head tilt or turn), a pediatric ophthalmologist may do a surgery to shift the eye muscles to “trick” the brain into thinking that it is in the null point so that a head tilt or turn is lessened. With that surgery, there is no large effect on visual acuity.
Dr. Strul: I agree.
Dr. Thompson: I agree. Nystagmus can affect the acuity by about 20%, so surgery may have a small improvement.

What would lead a person to suddenly begin “feeling” their nystagmus movements?
Dr. Strul: Most patients with nystagmus do not have any feeling of movement or movement of the image, because the brain has adapted over time. So, I would investigate whether the nystagmus has changed over time, such as swapped from vertical to horizontal or increased in speed. Acquired nystagmus later in life can lead to the feeling of movement, and there are medications that may help in that case, so we would investigate if this is occurring. Changes in the eye such as dry eye can affect the way a person senses the eye.
Dr. Thompson: Hard contact lenses can also add feedback to the eye and allow a person to feel the movements of the eye.

What is astigmatism?
Dr. Brooks: Astigmatism occurs when the light is not focused all in one point but instead is bent in one direction or the other. Think of your eye being shaped a bit more like a football rather than a basketball (which is the normal shape of the eye). It is not uncommon for people with albinism to be born with an astigmatism. It is one of the most common problems I’ve seen. It can be corrected with glasses.

Do the differences in the fovea and rods that occur in albinism lead to people with albinism having better vision in low light?
Dr. Brooks: The fovea specialization that occurs involves specialized cones. If I had to guess why it is easier for people with albinism to see in dim light, I would say that it may be more related to the reduction in glare or stray light that would normally enter into the eye from peripheral vision. Glare can lead to image degradation. In work by Glenn Jeffery with mice, the balance of rods versus cones is off, and that is an active question that is being researched. (As mentioned above, Dr. Joseph Carroll is studying rods in those with albinism and found numbers within normal limits.)

Are there recommended sunscreens for people with albinism?
Dr. Adams: We are working on a study and collection of research to build a list of recommendations and resources for making this decision. The main point for sunscreen is that you need a sunscreen that is not expired, that it is broad spectrum, and you need to apply it frequently, apply enough sunscreen so that it is visible at first, and let it dry for at least five minutes or so.

If you’re wearing clothing that is UPF, do you need to wear sunscreen underneath that clothing?
Dr. Adams: If you’re wearing clothing with UPF, you may not need to also apply sunscreen underneath, but this may change depending on time of day and how much area the clothing covers. Be sure there are no holes or openings in the clothing where sun can reach the skin underneath.

Do you need to wear sunscreen in a car?
Dr. Adams: There is some UV protection on car windows, but if you’re going to be in a car a lot on a sunny day, you need to wear sunscreen inside the car.

Is there ever a problem from wearing sunscreen too much?
Dr. Adams: I have never seen published evidence of sunscreen toxicity. That is not true for all things we put on our skin. Bug spray for instance can be toxic at certain dosages.
Dr. Strul: A lot of concern has come out about certain types of sunscreen. There is not a lot of evidence to choose one over the other, but if you would like to be safe, you can use a physical sunscreen, which does not get absorbed into the skin.

Is there a connection between migraine headaches and albinism/vision?
Dr. Strul: There is a connection between older adults with albinism and migraine-like syndromes, but it seems to be more related to eye strain as a trigger rather than vision itself. It can start off in teenage years though. Light sensitivity and eye strain can trigger migraines or migraine-syndromes. Maximize the visual environment for yourself to lessen eye strain. This is very individualized. Some may need more magnification or more contrast or a change in lighting. Varying lenses can also help with this.

Is there anything people with albinism can do to help while working on the computer?
Dr. Strul: Blue light blocking lenses have been in the media quite a lot lately, but there is no true evidence to support the use of these lenses yet. Using a tinted lens, taking frequent breaks, and other adjustments can help lessen some of that eye strain.

Can the UV lights being used to kill viruses like Covid-19 harm vision?
Dr. Brooks: UV light is not good for the eyes or people with albinism or anyone. Most UV light is blocked by the eye surface (cornea and lense) and cannot harm the back of the eye, but it can still do some significant damage over time to the front of the eye. I recommend protective eye wear and side shields when using those lights if you work with them.
Dr. Thompson: The manufacturers often have recommendations for normally pigmented people’s safety, but people with albinism should exceed those recommendations to be on the safe side.
Dr. Adams: Certain instruments in work settings or even over the counter products that put out UV lights can be harmful, so if you work with any of those tools, contact your employer, the manufacturer, etc. to be sure you comply with any safety standards.

Is there a reason to know what genetic type of albinism you have?
Dr. Brilliant: There are no gene therapies for albinism (excluding some types of HPS), but we are hopeful that we will have therapies that might work with some types of albinism more than other types of albinism. At that point it certainly would be beneficial to know which type of albinism you have to direct therapies for treatment. Other than knowing exactly what kind of albinism you have, there is not a medical need to differentiate between the types. It could be helpful in terms of family planning, though.

If you have been tested for albinism but had no known gene, should you be retested?
Dr. Brilliant: Over recent years, we have discovered new genes for albinism and HPS. Up to 70% of cases can be explained genetically, but as our tests get better and we expand the understanding of the genes or combination of the genes that lead to albinism, testing will improve.
Dr. Adams: It is a different situation when you have a clear-cut diagnosis versus one who has no clear-cut genetic diagnosis. It’s hard to say at what point you should check back, but every year or two we learn more and revisit ambiguous results. You can go back every year or two.

Will the natural history study be revisited?
Dr. Adams: We transitioned the study to analysis mode so that we can go through the huge amount of information shared through the study and make sense of it. There may be a role for it in a new study so we can learn how we know whether or not a therapy worked or not. As far as new studies, if you want to keep your finger on the pulse of new studies visit this website.

How would the lung issues of Covid-19 affect the lungs of those with HPS?
Mrs. Appell: We do not know yet how this will affect those with HPS. We are following many with HPS including some who have gotten Covid-19. Stay safe and take all the precautions you can to protect yourself.

Does the blood test for DNA sequencing have to be ordered by a geneticist?
Dr. Adams: It does not. An ophthalmologist or someone else who can counsel you about the results can order the test. You can ask to talk to genetic counselor or a medical genetic specialist to go over the possible results with you.

Is there any relation between albinism and glaucoma?
Dr. Brooks: Glaucoma is common among the general US population. It does not appear to be related to albinism specifically though.
Dr. Thompson: Through the albinism community, I have seen some who have glaucoma, but it seems to be mostly age related. The incidence is higher in those with albinism.

What causes photophobia in albinism?
Dr. Strul: It is not just related to the iris. It is also related to the lack of pigment within the eye. It can vary quite a bit within the albinism community.

How does hair change as a person with albinism ages?
Dr. Adams: People that can make a small amount of pigment can have hair that darkens over time, but if a person cannot make pigment at all, it is less likely to happen.
Dr. Brilliant: Even in pigmented individuals, children have much lighter hair at birth but it darkens at puberty. Hair color is more than just pigment. It is also related to the thickness of the hair. Thicker hair can appear darker than thinner hair.

As you age, do you absorb vitamin D less?
Dr. Adams: Vitamin D deficiency can happen at any age, but it does seem to decrease around age 60, so that may be a good time to start supplementing vitamin D.

Is there treatment for photophobia?
Dr. Strul: As far as medications or surgery, there is nothing that really changes the level of pigment within the eye. Some of the most effective treatments include optics such as wraparound sunglasses, transition and tinted lenses, ball caps, and tinted lenses to use indoors that can protect your eyes from lights inside. Contact lenses can be used to protect the iris, but they will not be as effective as sunglasses. There is no gene therapy that can help with photophobia.

Would cataract surgery improve vision in albinism?
Dr. Brooks: If someone has developed a visually significant cataract, that can lead to further scattering of light and decreased vision. If a person with albinism develops that, then this surgery can help improve vision. The intraoperative lens can also help with narrow angle glaucoma, because it is thinner and prevents the lens from pushing against the back of the eye.

How do xrays and CT scans harm the eyes?
Dr. Adams: There is probably not a difference in how you monitor radiation exposure for someone with albinism versus someone without. It is important to monitor radiation exposure if you have a chronic illness, but there is no reason to be worried about this if you are a person with albinism without a chronic disorder.

Is LASIK surgery something that would help in albinism?
Dr. Strul: LASIK surgery only corrects the vision loss that can be improved by glasses or contacts, but it will not affect the other aspects of albinism. I would not normally recommend it for someone with albinism, because LASIK can introduce more glare and aberrations to vision.
Dr. Thompson: LASIK tends to help with astigmatism and for those who are nearsighted, but it does not appear to be very effective in those who are farsighted.

PWA Hobbies Breakout

For those of you who aren’t familiar with the acronym, PWA stands for person or persons with albinism. There were four separate hobby sessions:

• Sports & Fitness
• Music & Performing Arts
• VIsual Arts/Arts & Crafts
• Photography

I did not catch any of these sessions due to my schedule, but they appeared to go very well!

PWA Cocktail Hour

Matt Bailey and Hunter Rouillard were our cocktail hosts and began the session with a basic history of cocktails. After a bit of fun chat, they began with the drink chosen for tonight.

The Fairest of Them All

Ingredients:

• A chilled glass
• 1 oz Lemon Juice
• 1 oz triple sec or Cointreau
• 2 oz Gin
• 1 egg white
• Lemon to garnish

Directions:

Be sure to place your glass in the fridge to chill for a while. Place 1 oz of lemon juice in a shaker. Add 1 oz of triple sec, Cointreau, or orange liqueur. Add 2 oz of gin. Separate your egg white and yolk. Add one egg white. Place the lid on the shaker and shake without any ice (a dry shake). Then, add ice and shake vigorously. Pour a bit of simple syrup into the glass and swirl to coat the inside of the glass. Pour mixture into chilled glass being sure to strain out the ice. Garnish with thin lemon slice. Enjoy.
Optional: You can choose to leave out the egg white.

Mocktail Version

Ingredients:

• A chilled glass
• 1 oz Lemon Juice
• 1 oz orange juice
• 2 oz ginger ale or club soda
• 1 egg white
• Lemon to garnish

Directions:

Be sure to place your glass in the fridge to chill for a while. Place 1 oz of lemon juice in a shaker. Add 1 oz of orange juice. Add 2 oz of ginger ale or club soda. Separate your egg white and yolk. Add one egg white. Place the lid on the shaker and shake without any ice (a dry shake). Then, add ice and shake vigorously. Pour mixture into the chilled glass being sure to strain out the ice. Pour a bit of simple syrup into the glass and swirl to coat the inside of the glass. Garnish with thin lemon slice. Enjoy.
Optional: You can choose to leave out the egg white.

They finished off the meeting with chats about other cocktails, drink mixing tips, and fun banter.

Conclusion

I know this article has been an incredibly long read, but thank you guys for sticking with me. If you missed Day one, be sure to check the links below for the other days of the conference. I will be updating them as the posts go live.

• Day 1
• Day 3 & 4