Clinical Trial for Oculocutaneous Albinism

eyeLast fall at the Vision of Children Foundation Symposium in San Diego I met Dr. Michael Struck from University of Wisconsin, Madison. Dr. Struck is leading a clinical trial for the treatment of several types of Oculocutaneous Albinism.

This trial is looking at the potential benefit of treating patients with dopamine over a four month period. Researchers have found that people with Albinism are deficient in dopamine specifically in their retina. Dr. Struck is proposing that treating them with an oral dose of Levodopa could help with visual acuity and retinal function. Here is a video of Dr. Struck talking about the trial.

In order to be included in this trial, children must be over the age of three and over twenty five pounds. He is including patients of the following types of Albinism — OCA1a, OCA1b, OCA2 and unclassified OCA. The trial is taking place at the University of Wisconsin, Madison and at this time there isn’t funding for travel expenses.

If you are interested in finding out more about this trial, please click on the link and contact Dr. Struck and his team.

I am looking forward to Dr. Struck’s findings.

Understanding 20/20 Vision Update

This is a post originally for about 2 years ago, that I thought it would be good to update.

People ask me what Will sees, while I can’t give an accurate picture of that, I thought that giving some perspective on the distance he can read would be good. As he is approaching Kindergarten in the fall we are really trying to understand at what distance he can accurately read and see the board.

In March he read letters from the 20/80 line, which is the first time he has ever seen anything on a standard eye chart. Below is an illustration of what he could read verses a “normal” 20/20 vision person. He can read at 20 ft., what “normal” 20/20 vision people can read at 80 ft.

vision compairsion

We all hear references to 20/20 vision, but what does that really means? I was talking with a friend and realized even I couldn’t accurately articulate it after all we have been through. So here is an explanation.

Over time, eye doctors established what “normal” people should be able to see at a distance of 20 ft. At the doctor’s office they test us with eye charts containing letters at a simulated distance of 20 feet and if you can see the appropriate line, then you have 20/20 vision. Or you can have your vision corrected to 20/20 using glasses or contacts. Keep in mind, this is considered “normal” vision.

People with 20/40 vision can see at 20 feet what people with “normal” vision can see at 40 feet. A person with 20/100 vision can see at 20feet what people with “normal” vision can see at 100 feet. It is important to remember that 20/20 vision isn’t considered perfect vision, it is considered normal vision.

It is also possible for people to have better than “normal” vision, such as 20/10 or 20/15. That means that those people see at 20 feet what people with “normal” vision would see at 10 or 15 feet.

In the United States, people with vision 20/200 or higher are considered legally blind. I was actually considered legally blind before my LASIK surgery and without my glasses or contacts. Unlike Will’s condition that affects the back of the eye (retina), my vision deficiency was due to a lens defect so it was correctable. Typically you need to have 20/40 vision using eyes together to pass driver’s vision exams around the country.

Hopefully it will help put it in terms that make sense and are easier to visualize. Although I would love a program that could really show me what he really sees.

Sources:

http://health.howstuffworks.com/human-body/systems/eye/question126.htm

Vision of Children Symposium

VOC symposiumLast week I had the pleasure of attending the Vision of Children Eighth World Symposium on Ocular Albinism in San Diego. Researchers from all over the globe attended and presented their research, most of which is in process. It is unique that researchers of varying backgrounds come together like this and share their research before it is published, and as such, an opportunity we couldn’t pass up.

Although much of what was presented was over my head, I appreciated that there was a wide variety of experts in attendance — everyone from microbiologists working within the cells, to scientists working on whole-animal models, to pediatric ophthalmologists running clinical trials. I learned so much more about albinism and ocular albinism (OA) — from genetics to the way that the different types present in the patients.

The Vision of Children Foundation, founded by Sam and Vivian Hardage twenty two years ago, has done so much to further the understanding of albinism and specifically ocular albinism. When it began there was very little research going on and no treatment or cure in sight. Now there are three clinical trials underway for various forms of oculocutaneous albinism and hopefully that will lead to a potential treatment for OA as well.

I was so inspired by all of the amazing work being done and how passionate all of the researchers are. It was so worthwhile for me to attend to make contacts, learn more about the disease and meet other families. In the coming weeks I will be writing more about what I learned and the things we will be doing. Stay tuned.

Understanding Oculocutaneous Albinism

eyeAlbinism comes in two forms, ocular (OA) and oculocutaneous (OCA). In OA, only the eyes or retina are affected by the lack of pigment. With OCA, the eyes, skin and hair all show a lack of melanin pigment.

Typically people with OCA have fair to very fair skin and white or light colored hair. They can have a much greater risk of sun damage to the skin. The iris (the colored part of the eye) may also not have any pigment causing it to be pink or very lightly colored. This can make the eyes very light-sensitive. The vision issues with OCA are the same as OA — reduced visual acuity, nystagmus, strabismus (misalignment of eyes) and decreased stereoscopic vision (depth perception).

There are four types of OCA, with type 1 and 2 being most common. Some types are more common in certain ethnic groups or from geographic regions. All four types of OCA are autosomal recessive, meaning the person must have mutations on both copies of the gene. The most accurate way to tell which type of OCA a person has is to conduct genetic testing. An estimated 1 in 20,000 people worldwide are born with OCA.

  • OCA Type 1 – typically has a complete lack of pigment in the hair, skin and eyes. People will show vision symptoms similar to OA.
  • OCA Type 2 – individuals can have a minimal amount of pigment to a moderate amount, including dark blonde/reddish hair and eyes that are blue. Vision symptoms are similar to OA.
  • OCA Type 3 – is more difficult to diagnose by appearance alone. People show a lack of pigment in skin and hair, but vision symptoms are less severe.
  • OCA Type 4 –symptoms are similar to type 2, but incidence is more common in people of Japanese or Korean decent.

Oculocutaneous Albinism is a condition that affects an individual for their entire life, but can be managed with some care and understanding. The key to proper management is understanding what type you are dealing with and its genetic implications.

 

Sources:

http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism

http://rarediseases.about.com/od/rarediseasesa/a/082704.htm

Child Awareness

Will park

I have recently been thinking about Will’s awareness of his eye condition, Ocular Albinism. Since he was born with it, it is his normal and he probably isn’t aware that his eyes see differently than other people.

There was a discussion about child awareness in a Facebook Group for parents of OA/OCA children about when you “tell” your children about their condition. The responses got me thinking about what we are doing for Will. Some parents believe in telling their child at a young age that they are different and how. Others believe that you should wait until they have the maturity to handle some of the stigma that may come.

Jim and I have worked very hard to help our boys feel as typical as possible; for Jack with his tube and Will with his eyes. We try to treat them similarly to any other child, just being aware when they might need extra help. Jack’s tube went away when he was three, so he doesn’t remember it other than pictures. Up to this point we haven’t directly told Will that he sees differently, because I don’t think he can understand what it means.

The important thing for Will to understand is to tell adults and teachers when he can’t see something or needs help, basically advocating for himself. His personality is such that he is pretty vocal with his needs, so I am confident he will naturally ask for help. I want to make sure he has a balance with his understanding of being different, but knowing that he is still very typical in most other ways.

Over the next year as he gets ready for Kindergarten we will definitely make sure he understands his condition and when he should ask for help. He will need to know the name and how to explain it to people, but for now he is just too young to understand.

When do you think is the right time to make your children aware of conditions they may have?

People Behind the Eyes – Robert

Interview series with patients and families affected by Albinism

RobertRobert is a 22 year old man living in the United Kingdom. He found us through Facebook.

How old were you when you were diagnosed with Albinism?

Young, my early years, around 1 or 2. Although I think they suspected sooner.

What is your most recently measured vision?

I am not sure of the exact prescription however I know I have 6/36 (the equivalent of 20/120 for us non-metric people) which equates to being able to see something at 6 meters away which an able-sighted person can see 36 meters away. Basically 6 times worse. I do know that they do not make contacts with the strength of my prescription.

At what age do you remember being aware that you had Albinism?

I’d say probably during secondary school. The Nystagmus was more noticeable and I knew about this condition sooner. Luckily my Albinism is only ocular and isn’t too noticeable (mostly noticeable through excessive squinting and impressive red-eye in photos!)

How did Albinism affect you in school?

The earliest I can remember was being taught to touch-type in primary. During secondary school I was offered many low-vision aids, many of which I refused due to not wanting to be too different to my peers. I tried a portable keyboard with built in screen for a year or two (no iPads then!) which was very bulky, old and cumbersome to use in class. I refused all aids apart from extra time for exams. My friends would help me write any objectives on the board and once I had my text book I could just about read the small print. Basically I made it through school due to having very good friends, a stubborn attitude and some helpful and understanding teachers.

Were special accommodations made for you in the classroom? If so what?

I was always asked to sit at the front, despite the fact that even at the front I couldn’t see the board. After many heated arguments with teachers they soon let me sit next to friends. I did not have a 1-to-1 helper. As mentioned before I was given a portable keyboard due to my writing being slow and this helped. Other than that I generally used the same equipment. However I remember in Math my worksheets and tests were enlarged as decimal points and small fractions were a problem.

Have you found that others treated you different because you have Albinism?

Throughout secondary school I would get occasional comments but I had a good selection of friends and a sharp sense of humor. This helped me to combat any bullying and I didn’t really suffer from it during my schooling. Again during day-to-day life my Albinism isn’t largely noticeable unless you looked directly into my eyes.

Did Albinism affect your career choice?

Definitely. My first career choice was the police which obviously wouldn’t have worked out. I struggled on a career to choose during college. Whilst at college I had two jobs, one at a cafe and one at a cinema. These presented their own set of challenges which I had to overcome. The cafe had a very old till which had small faded labels on. I couldn’t see this so had to memorize the entire layout and prices. When I was doing waiting duties I would be given a food order to deliver to a certain table number, the problem was the table numbers weren’t fixed. Each customer was given a small number card to place on their table. I couldn’t see this. I would have to walk around the tables with the order until I either noticed the card or the customers motioned for me to come over. Sometimes this was embarrassing but I got on with it! The cinema job had similar problems with the till, however this was multiplied with having to use the ticket booking computer, which had small very numerical codes for the screens, dates, times and prices. A lot of squinting and mistakes happened here. Luckily my boss was understanding and would tolerate the occasional mis-booking. After these two jobs, towards the end of my college education I finally settled on teaching, specifically Primary Teaching. This caused me great worry as I wondered how I would see the class, manage behavior and mark work. After 4 years of training and 1 year in work however I can say the impact is minimal, as I control the text size on the board and displays, I can see the children well and I can mark the books as close to my face as I like! The only real drawback is I am unable to drive which limits distance.

Are you able to drive?

I was told I would be unable to drive at 14 from the local optician. This caused great upset to me and, surprisingly, my dad, who had bought a custom license plate for me and I guess was looking forward to teaching me to drive. Not being able to drive really hurt during college when all my friends were learning. I really felt left out and I am occasionally bitter about it today, especially when waiting for a bus in a blizzard. I am provided with a bus pass so during non-peak times I can travel on busses for free, however they don’t seem to understand that if I can’t see well enough to drive, how can I see well enough to read a bus timetable or see the bus number…

Do you wear glasses and does it help?

I have worn glasses since I can remember, starting at a very young age. They correct my vision slightly. Recently I got my first pair of varifocals (similar to no line bifocals, they gradually change power from top to bottom) which scared me, I don’t want my eyesight to deteriorate! They are not the best glasses to wear for day to day use but are necessary now that I can’t focus as well. My glasses are a large magnification and this is very apparent to people. It also makes it even easier to spot my Nystagmus.

What type of doctor do you see? Specialist? GP?

When I was younger I saw a specialist optician, probably up until the age of around 10. However now I see a regular GP and visit a mainstream optician.

Understanding 504 Plans

Some children with learning disabilities, mild special needs or other health conditions that are limiting in a classroom setting may need a 504 plan. These children don’t qualify for special education services or plans called Individualized Education Plans (IEPs), but still have difficulty participating in a normal classroom without some accommodations.

The term 504 Plan refers to Section 504 of the Rehabilitation Act of 1973, which prohibits discrimination against a person based on disability from any program or activity, public or private, that receives federal funding. The law leaves the definition of disability to the Americans with Disabilities Act and Ammendments Act (ADAAA). The ADAAA was expanded in 2008 to incorporate a broader definition of disability.

According to Section 504 a person is disabled if he or she “(i) has a physical or mental impairment which substantially limits one or more major life activities, (ii) has a record of such an impairment, or (iii) is regarded as having such an impairment.” Major life activities can include reading, concentrating, learning, communicating, seeing and hearing. In order to determine if a child is eligible for a 504 Plan, they will be evaluated by a team of people determined by the school. Unlike an IEP, the child must already be enrolled in school for the 504 evaluation to begin; IEP evaluations and plans can be written prior to the child entering school.

The key difference between 504 Plans and IEPs is that children with 504 Plans have learning accommodations made within their classroom, making the typical learning environment accessible for the student. IEPs are created when a 504 Plan isn’t enough and the child needs additional special education services, pull-out help or other more intensive programs. IEPs require measureable growth documentation and is reviewed and updated annually.

Some potential accommodations that can be included in 504 plans are preferential classroom seating, extra time on tests or assignments, larger print worksheets or books, additional verbal instructions or providing short breaks from classroom activities. There are many more accommodations depending upon the child’s needs and specific area of disability.

The National Center for Learning Disabilities has an introductory video on their website which provides some additional information about 504 Plans.

If you think that your child might qualify for a 504 you should contact your school or your school district’s special education department.

Resources:

http://www.lovejoyschools.com/504_accomodations.htm

http://www.ncld.org/disability-advocacy/learn-ld-laws/adaaa-section-504/section-504-rehabilitation-act-1973

Explaining Astigmatism

At the boys’ most recent vision appointment we discovered that Will has astigmatism; Jack does not. I have astigmatism as well, so I can understand first-hand how it can affect their vision.

With astigmatism, the cornea (outer covering of the eye) is mis-shapen. For people with normal vision their cornea is round like a baseball, where both axes (vertical and horizontal) have the same curvature. For people with astigmatism the cornea is oval like an egg or football, where one axis is more curved than the other. Therefore when the light comes through the lens it isn’t focused into a single point. Instead the light is refracted into two or more points, making the object appear blurry, wavy or distorted. Unlike near or farsightedness, the distance from an object doesn’t make it easier or harder to see.

Diagnosing astigmatism is done during normal eye exams. The doctor performs a retinoscopy by placing different lenses between a retinoscope, a hand-held lighted instrument, and the eye. The retinoscope measures the focusing power of the eye. A keratometer can also be used to measure the shape of the cornea. It focuses light on the corner and measures its reflection. This is mainly used to fit contact lenses.

There are several types of astigmatism.

  • Myopic astigmatism is where both axes are nearsighted, but at differing levels, meaning the light is focused before the retina.
  • Hyperopic astigmatism, both axes are farsighted or the light is focused beyond the retina.
  • Mixed astigmatism happens when one axis is nearsighted and the other is farsighted.

Astigmatism is also determined to be regular or irregular. The most common type is regular.

  • Regular astigmatism, the axes are perpendicular.
    With-the-rule which means the football shaped eye is sitting horizontally.
    Against-the-rule where the eye looks like a football standing vertically or on its end.
  • Irregular, they are not perpendicular.

Astigmatism is a fairly common eye condition and most people have some mild form of it. For those that are a larger astigmatism, it can be corrected with glasses, contact lenses or sometimes corrective surgery.

Vision with astigmatism can look distorted or blurred. Long straight lines can appear curved and reading some letters and numbers can be difficult to distinguish like P and F or B and 8. In with-the-rule vertical lines are the clearest, with a horizontal blur. Most children have with-the-rule astigmatism. Against-the-rule astigmatism occurs most in older eyes and shows a vertical blur, with the horizontal lines are clearest. The illustration below shows the difference.

Astigmatism_text_blur
Photo from http://en.wikipedia.org/wiki/Astigmatism_(eye)

I have with-the-rule astigmatism. I have found that it can be difficult for me to read numbers with several 1’s and 0’s in a row, since the lines blur horizontally for me. I also notice it in words with the letters “l” and “i” together (like Will’s name), the lines blur and I have to look closely to make sure I have the right number of each. I have never been able to draw a straight line, so maybe that is the reason too (or at least that is the excuse I am going to use).

For Will, his vision isn’t good enough to be affected by the blur from his astigmatism, so at this time it doesn’t do any good to fit him with glasses it. If his vision gets better then we will consider them at that time.

 

Sources for this post:

http://www.allaboutvision.com/conditions/astigmatism.htm

http://www.aoa.org/Astigmatism.xml

http://en.wikipedia.org/wiki/Astigmatism_(eye)

Eye 2 Eye

Two weeks ago the boys had their annual eye exam with Dr. Weiss at Seattle Children’s Hospital. We go each year to see Dr. Weiss as he is one of the nation’s leading authorities on nystagmus and Ocular Albinism (OA). During our visits we make sure no other issues are cropping up and track the kids’ progress. This visit was the first time Will’s vision was actually measured using the big boy eye chart.

childrensEyeChart_POPFor Will they used the beginning eye chart of black and white pictures. The tech showed him a sheet before it started and asked him to name each one to determine a base line of what he knew or what he called each one. He measure 20/70 with both eyes together. As a wiggly three year old he started to get antsy at the end and may have done better, but it is a good baseline to start with. Dr. Weiss said that typically the first time kids are measured on the big eye chart their vision measurement is usually lower than normal. Will is measuring right in the typical range for kids with OA. His visual acuity can continue to get better, so our fingers are crossed that he will.

Will continues to have his left head turn of 15-20 degrees from his nystagmus. He also has an astigmatism, which contributes to blurred vision, but can usually be corrected with glasses or contacts (I actually have an astigmatism). Right now his astigmatism blur is less than the visual blur from his OA, so we don’t need to do anything to correct it. Eventually he might use glasses in the future to help with this if his vision continues to improve and the astigmatism starts to contribute to his lower visual acuity.

Jack continues to be a very mild case of OA. So much so that Dr. Weiss has only seen a few other kids like him. He is 1% of the OA patients that has almost normal vision and good stereoscopic vision (depth perception). However his left eye does continue to have worse vision than his right. This visit he measured 20/20 in his right eye and 20/30 in his left; better than last year. Since we tried patching before and it didn’t help, Dr. Weiss wants him to do a 3-6 month trial in a pair of glasses to try to get his left eye to improve. Vision is set around the age of eight, so we have 6-9 months to make one last big try. We haven’t gotten his glasses yet, with all of our travels, but I will post a photo of him once we do. Jack doesn’t have an astigmatism, so theoretically he will not need to wear glasses in the future.

The bottom line is the boys are doing great. Will’s eyes need to continue to mature and hopefully his vision improve in the next few years. It will be interesting to see if Jack’s left eye will improve more with the glasses. And All of Us Will See.

What does 20/20 vision mean?

We all hear references to 20/20 vision, but what does that really means? I was talking with a friend and realized even I couldn’t accurately articulate it after all we have been through. So here is an explanation.

Over time, eye doctors established what “normal” people should be able to see at a distance of 20 ft. At the doctor’s office they test us with eye charts containing letters at a simulated distance of 20 feet and if you can see the appropriate line, then you have 20/20 vision. Or you can have your vision corrected to 20/20 using glasses or contacts. Keep in mind, this is considered “normal” vision.

People with 20/40 vision can see at 20 feet what people with “normal” vision can see at 40 feet. A person with 20/100 vision can see at 20feet what people with “normal” vision can see at 100 feet. It is important to remember that 20/20 vision isn’t considered perfect vision, it is considered normal vision.

It is also possible for people to have better than “normal” vision, such as 20/10 or 20/15. That means that those people see at 20 feet what people with“normal” vision would see at 10 or 15 feet.
In the United States, people with vision 20/200 or higher are considered legally blind. I was actually considered legally blind before my LASIK surgery and without my glasses or contacts. Unlike Will’s condition that affects the back of the eye (retina), my vision deficiency was due to a lens defect so it was correctable. Typically you need to have 20/40 vision using eyes together to pass driver’s vision exams around the country.

Jack’s vision is 20/25 in his right eye and 20/40 in his left eye, due to his ocular albinism. We don’t know what Will’s vision is yet, but have been told it will most likely be between 20/80 and 20/50. It is our hope that it will be good enough for him to pass a driver’s test.

Sources:
http://health.howstuffworks.com/human-body/systems/eye/question126.htm

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