A Few Facts About Albinism

1. What is albinism?
   Simply put, albinism is a decrease in or absence of melanin, the protein necessary for pigmentation. This typically affects the skin, hair and eyes.


2. Are people with albinism blind?
   No. Their vision may vary from 20/40 to 20/400. People with albinism may be “legally blind” which is defined as vision that is not correctable to better than 20/200. However, this is quite different from total blindness.


3. What can they see?
   It’s difficult to say. You’ll find a great description by Bianca, who describes it as “not blurry as it would be for nearsighted people, but lacking in clarity and detail, like a photograph with low resolution.” Most people with albinism are able to distinguish colors.


4. Will their vision get worse over time?
   No. Albinism is a non-degenerative retinal condition, which means it does not worsen with time (other than the “normal” changes that occur with age and are correctable with glasses). In fact, with some forms of albinism, vision may actually improve slightly throughout childhood.


5. What causes the irregular eye movements?
   This is a condition called nystagmus. The involuntary eye movements may be from side-to-side eye, up and down, or rotary. Nystagmus is present to varying degrees in people with albinism and typically declines with age. It tends to increase when the person is upset, excited or tired.


6. Does nystagmus affect vision?
   Although people with nystagmus cannot tell are not aware that their eyes are moving, it does make it more difficult for them to focus clearly on details. In fact, they often will find a “null point” which is the point where their nystagmus is the least apparent. (See below.)


7. What is the “null point”?
   People with albinism have a poorly developed fovea. In normal-sighted people, the fovea is in the center of the macula and an image will land there when the person is looking straight ahead. Their fovea is where they focus for their best detail vision – such as seeing a freckle on a person’s face. Because a person with albinism has an underdeveloped fovea, they must find their best area of focus, which may be anywhere on their retina. Typically, they will move their head to the position necessary to focus on this spot, consequently slowing their nystagmus, and allowing for their best vision. This is their null point.


8. How does a lack of pigment affect the eyes?
   This is a complex question because it affects the eyes in several ways:
   1. In a normal-sighted eye, the optic nerve (which connects the eyeball to the brain) includes some fibers that stay on one side of the brain and some that cross over to the other. Melanin provides the signal that indicates which fibers should cross over and which should not. In albinism, the lack of melanin results in an improper crossing which leads to poor depth perception.
   
   
   2. The retina (the back of the eyeball) is made up of several cell layers. One of them, known as the retinal pigment epithelium, converts incoming images into a signal which is routed to the brain. People with albinism are missing the melanin that should lie within the retinal pigment epithelium. Without it, this signal is not processed properly and vision is impaired.
   
   
   3. Decreased pigment in the iris (the part of the eye with color) and the retina leads to a diminished ability to absorb light. As light reflects off normal blood vessels in the back of the eye and through the pale iris, the effect is the red color sometimes seen in people with albinism. Insufficient iris pigmentation also causes people with albinism to be more light-sensitive and experience discomfort in bright light.


9. Do all people with albinism have white hair?
   No. OCA1a is the subtype typically associated with white hair, as people with this type have no pigment. Depending on the type of albinism and the race, people with albinism can have white, blond or brown hair. People with ocular albinism (OA), a subtype affecting only the eyes, can have black hair.


10. Do all people with albinism have pink eyes?
    No. Most people with albinism have blue, green, hazel or even brown eyes. The pink appearance is due to the reflection of the back of the eye through a pale iris, as described above.


11. Is any of this correctable?
    Not with the technology that is currently available. An ophthalmologist can help correct “lazy eyes” which are sometimes present in people with albinism. However, changes to the retina and optic nerve are currently not reversible.


12. How does someone get albinism?
    Albinism is a genetic condition. It is typically autosomal recessive, which means each parent contributes one malfunctioning gene – so equally inherited from both parents. Ocular albinism (OA) is an X-linked type of albinism, with the female being the carrier of this abnormal chromosome. Contrary to popular myth, albinism is not contagious
.

13. Are there different types of albinism?
    Yes. Please see the “What is Albinism?” page for more details. There are several types. Ocular albinism (OA) affects only the eyes and is present mainly in boys. Oculocutaneous Albinism (OCA) affects eye, hair and skin and includes different genetic subtypes. Less common forms include Hermansky-Pudlak (HPS), Chediak-Hagashi and Griscelli syndromes.


14. How can two people with normal pigmentation produce a child with albinism?
    That is because these parents — like one out of every 75 people — are carriers for albinism. A carrier is someone who has one functional gene and one abnormal gene. (We all have two copies of all genes, except the sex chromosomes X and Y). Because the functional gene overrides the abnormal gene, these people do not have albinism themselves. However, they are still able to pass the abnormal gene on to their child. If the other parent is also a carrier for the same type of albinism, the offspring has a 25% chance of having albinism, a 50% chance of being a carrier, and a 25% chance of having two “normal” genes.


15. If two people with albinism have a child, will that child have albinism?
    Not necessarily. There are several different types of albinism that affect several different genes. If two people with the same type of albinism reproduce, all of their children will have albinism. If two people with two different types of albinism have children, NONE of their children will have albinism. The genetics are complicated, but that’s how it works.


16. How is albinism diagnosed?
    Albinism can typically be diagnosed with a simple eye exam by an experienced ophthalmologist. They look for decreased amount of pigment in the retina, foveal hypoplasia and trans-illumination defects of the iris (see below). If the diagnosis is in question, a VEP can be used to rule out albinism (see below). Genetic testing can also be performed. Although it is not yet perfected, it can sometimes help to identify the type of albinism and the genetic changes present. For more information on genetic testing, contact a qualified genetic counselor.


17. What is foveal hypoplasia?
    The fovea is the part of the retina, in the center of the macula where one would normally focus for the sharpest most detailed vision. In people with albinism, this area is poorly formed or, in some cases, not present. This is known as foveal hypoplasia.


18. What is a trans-illumination defect?
    Basically, this is the abnormal passage of light through a poorly pigmented iris.


19. What is a VEP?
    VEP stands for Visual Evoked Potential. It tests the function of the visual pathway from the retina to the area of the brain responsible for interpreting visual input. It is done by flashing lights of different patterns in front of a person’s eyes and measuring the response in the brain. You can learn more about VEP at www.emedicine.com/NEURO/topic69.htm.


20. How is a VEP useful in diagnosing albinism?
    All people with albinism, regardless of type, have one feature in common. They all have abnormal crossing of their optic nerve at the optic chiasm. With appropriate testing, the visual pathway of someone with albinism will show up as a distinct pattern on a VEP. If this pattern is not seen, one can safely rule out albinism as a diagnosis.


21. Is albinism associated with mental retardation?
    No. Albinism does not cause mental retardation. In fact, some experts consider people with albinism to have higher IQs than their siblings.


22. Is albinism associated with deafness?
    No. There is no known association between albinism and hearing loss.


23. Do people with albinism have to go to special schools?
    No. Most children with albinism function well in a mainstream classroom, with proper accommodations. Please see the Education Tool Box.


24. Are there special services for children with albinism?
    Yes. Please see the Education Tool Box for a more complete explanation of services, including Early Intervention offerings from birth.


25. Can people with albinism read books?
    Yes! Although Braille is typically not necessary for people with albinism, some may learn to use it in order to give their eyes a rest. Depending on the degree of visual impairment, other accommodations may be necessary. These include large print books, a CCTV, magnifiers, and high contrast materials. Please see the Education Tool Box for more information.


26. Do people with albinism spend a lot of time going to doctors?
    In the beginning, it may seem overwhelming. However, once a child reaches about three years of age, typically the only albinism-related doctor appointments necessary (outside of a yearly physical) are with an ophthalmologist every 6 months to 1 year and a dermatologist once a year. For more information, please refer to the Medical Tool Box.


27. How does the sun affect the skin of people with albinism?
    People with albinism lack sufficient amounts of melanin, the protein that provides protection from the harmful rays of the sun. As a result, they are prone to sun burns, as well as skin cancers that are related to chronic sun exposure such as basal cell carcinoma and squamous cell carcinoma. People with albinism are not at any higher risk of developing melanoma than the general population. For more information, please refer to the Medical Tool Box.


28. How does the sun affect the eyes of people with albinism?
    People with albinism have a decrease in the amount of melanin in their eyes. In a “normal” eye, melanin serves to absorb sunlight. Imagine being in the dark, then having a bright light suddenly turned on in your face. The discomfort felt for those few seconds before your eyes have adjusted is what it feels like when people with albinism are in bright light — except that their eyes don’t adjust. In addition, chronic exposure to sunlight increases the risk of cataracts in people with albinism.


29. Can people with albinism go outside?
    Absolutely. With proper sunscreen and sunglasses, they can go anywhere – including the beach.


30. Are there other medical problems associated with albinism?
    Usually not. Besides low vision and sun-sensitive eyes and skin, people with albinism have normal life spans, assuming they use proper sun protection. In underdeveloped areas where sunscreen is not readily available, skin cancer can be a fatal condition. There are, however, certain rare types of albinism that involve other medical problems. Please see the following links for details: Hermansky-Pudlak Syndrome, Griscelli Syndrome and Chediak-Higashi Syndrome.


31. Can people with albinism drive a car?
    Sometimes. The requirements vary by country and by state. Drivers may be required to use bioptics. For details, please see www.biopticdriving.org


32. Why are there so many misconceptions about albinism?
    Unfortunately, albinism is a poorly understood condition. The idea of “the evil albino,” while ridiculous, has been perpetuated by books, movies and the general media. (Please see www.lunaeterna.net/popcult for examples.) The truth is, of course, that people with albinism are regular people with a decreased amount of pigment in their hair, skin and eyes.


33. How can I meet other parents of children with albinism?
    NOAH is a great organization and a good place to start. You can submit contact information on their Web site that will put you in touch with other families. NOAH also conducts conferences, which are attended by hundreds of families and affected individuals. You can also contact the directors of this foundation at susan@visionfortomorrow.org or leslie@visionfortomorrow.org, as we both have children with albinism.