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

No. Their vision may vary from 20/40 to 20/400. Persons 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.

It’s difficult to say. One great description we found was “not blurry as it would be for nearsighted people, but lacking in clarity and detail, like a photograph with low resolution.” Most persons with albinism are able to distinguish colors.

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.

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

This is a complex question because it affects the eyes in several ways:

• 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.
• 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. Persons 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.
• 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 persons with albinism. Insufficient iris pigmentation also causes people with albinism to be more light-sensitive and experience discomfort in bright light.

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. Persons with ocular albinism (OA), a subtype affecting only the eyes, can have black hair.

No. Most persons 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.

Not with the technology that is currently available. An ophthalmologist can help correct “lazy eyes” which are sometimes present in persons with albinism. However, changes to the retina and optic nerve are currently not reversible. There is a surgery, known as the tenotomy procedure, which is believed to improve nystagmus.

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.

Yes. Please see Genetics and Types of Albinism 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 Syndrome (HPS), Chediak-Higashi Syndrome and Griscelli Syndrome.

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.

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.

YES! Children with albinism have low vision and sun-sensitivity but are otherwise “normal” children.

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. If the diagnosis is in question, a VEP can be used to rule out albinism. Genetic testing also can 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.