Albinism

What is Albinism?

Albinism is an inherited condition. People with albinism have little or no melanin, which is a chemical that colors our skin, eyes and hair. Therefore, people with albinism lack pigmentation in the skin, eyes and hair. Albinism affects people of all races and ethnicities and is much more common than you may think. In fact, one out of every 17,000 people worldwide has some form of albinism. In some populations, it occurs in one out of every 200 births.

Most forms of albinism are recessive, which means that a child inherits one abnormal gene from each parent. Most children with albinism are born to parents with normal pigmentation. These parents — like one in every 75 people — are carriers for albinism. A carrier is someone who has one abnormal gene and one that functions normally. Because the functional gene overrides the abnormal one, these people do not have albinism themselves. However, they are still able to pass the abnormal gene on to their child.

Although people with albinism always have problems with vision, the degree varies greatly. Some are legally blind, while others have vision that is good enough to drive a car. Most are able to read without using Braille.

 How is it Diagnosed?

 Albinism can be diagnosed by an experienced ophthalmologist  or optometrist with a simple eye exam. There are confirmatory tests, such as genetic testing, but they are not yet perfected. For more information on genetic testing, contact a qualified genetic counselor. Genetic counselors are generally affiliated with universities and/or children’s hospitals. If a diagnosis is unclear, a special vision test, known as a VEP (Visual Evoked Potential), can sometimes be used to rule out a diagnosis of albinism.

Parts of the Eye Affected in Albinism

Please refer to our eye diagrams as needed. 

  1.  The Retina.

• The retinal pigment epithelium contains the cells that convert visual input into signals to send to the brain. A lack of pigment in these cells leads to a decreased ability to process visual input. It also leads to a decreased ability to absorb stray light, leading to light sensitivity and the red reflex that is sometimes noticeable as a violet hued iris in people with albinism.
• The fovea is the center of the macula – the area of the retina responsible for our central, sharpest vision. In a normal eye, the macula is the area of a person’s best vision that focuses on an image such as a person’s face. The fovea zeros in on detail such as seeing a freckle on someone’s face. In people with albinism, the fovea is underdeveloped and lacking in pigment. This is known as foveal hypoplasia.

  2. The Optic Nerve.

• The optic nerve is the connection from the eye to the brain. Between the eye and the brain, there is an area known as the optic chiasm. This area is where the optic nerve splits into separate fibers which are routed to the brain.
• In normal-sighted people, most of the fibers stay on the same side of the brain while some cross to the opposite side. This helps with “binocular vision” (using both eyes) and, in turn, depth perception.
• In people with albinism, too many fibers cross to the opposite side, giving the brain an abnormal signal. This leads to the difficulty with depth perception that often occurs in albinism.

  3. The Iris.

• This is the colored part of the eye. It helps control the amount of light entering the eye.
• An insufficient amount of pigment in the iris of those with albinism results in a decreased ability to filter light entering the eye. The decreased pigment also leads to trans-illumination defects of the iris, which is light reflecting back through the poorly pigmented iris. The detection of trans-illumination defects during an eye exam by an ophthalmologist is an indication of albinism.
• People with albinism are often sensitive to bright lights and glare, which is usually helped by wearing sunglasses.

Other Eye Problems Associated with Albinism

1. Nystagmus. This disorder is characterized by an irregular, side-to-side involuntary eye movement that may be side-to-side, up and down or rotary. Although people with nystagmus do not sense that their eyes are moving, this disorder does make it more difficult to focus on visual details.
2. Strabismus. This is a muscle imbalance of the eye which leads to crossing of the eyes or a “lazy eye.” In esotropia, the eye turns inward. In exotropia, the eye turns outward. If uncorrected, this can lead to amblyopia.This is correctable with glasses, eye-patches and/or surgery.

Other Associated Medical Concerns

1. Skin: People with albinism lack sufficient amounts of melanin, the chemical which also protects your skin from the sun. As a result, they are prone to sunburn and skin cancer. In areas of the world where proper sunscreen is not available, there is an 80% fatality rate. In the United States, people with OA and OCA albinism have a normal life span. In the developed world, many skin cancers are prevented by using proper sunscreen and protective clothing. People with albinism do not need to stay inside or sit in the dark. With proper protection, they can participate in most activities, including a trip to the beach.
2. There are other medical problems associated with HPS, Chediak-Higashi Syndrome and Griscelli Syndrome as described above.

Treatments

There is currently no treatment for albinism. However, many people with albinism do wear glasses to correct their “standard” eye conditions, which include near-sightedness, far-sightedness and/or astigmatism. Ophthalmologists can help by confirming an albinism diagnosis, prescribing glasses — and by educating the family. There is a procedure, known as a tenotomy, that, although in early stages, has shown some promise in improving nystagmus. For more information on this procedure, click here OR contact Dr. Robert Burnstine of Akron Childrens Hospital, at boomeriu@aol.com.