Albinism - What It Is And What Causes It

A genetic condition that is inherited, albinism is a reduction in melanin pigment in the hair, skin and eyes. This inherited condition can occur in all ethnicities and races, and is found throughout the globe. In America, the rate of albinism is estimated at 1 in 20,000 people, and included in this are the variant forms of albinism. In some places around the world, the rate can be as high as 1 in 3000.

Albinism Genetics

Generally speaking, an albinism trait is inherited from both parents, where the parents are carriers of the trait without the actual disorder. When parents both carry the gene for albinism, each pregnancy has a one in four chance of producing albinism. Even though albinism is known to be an inherited genetic disorder, there is so far no way of testing parents to see if they carry the trait. This is because the changes in the DNA relating to albinism are not always located in the same place. If the parents have had a previous child with albinism, it is possible to predict whether or not a subsequent pregnancy will result in another child with the disorder.

Seven Types of Albinism

There are two main types of albinism, with 5 further classifications. Ocular albinism (referred to as OA) is a lot less common than the other forms, and it only affects the eyes. The hair and skin may appear a bit lighter than others in the family, but it is still pigmented. Oculocutaneous albinism (OCA) is the more common form, with many variations, and this affects the skin, eyes and hair. OCA can be further classified into the following:

OCA1 (tyrosinase-related albinism)

This form of albinism is due to a genetic defect in tyrosinase, an enzyme that assists with changing tyrosine into pigment. These albinos usually have very pale skin and white hair.

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OCA2 (P gene albinism)

OCA2 is a genetic defect in P protein, which assists with the function of the tryosinase enzyme. People with this form of albinism have some color pigmentation in their hair, which can range from light blond through to shades of brown.

OCA3

This form is less common and is due to a genetic defect in TYRP1, which is a protein. This protein relates to tryosinase, and unlike other forms, people with OCA3 can have good pigment and be less recognizable as albino.

OCA4

This is also due to a protein genetic defect. Pigment production is similar to those with OCA2.

OCA5-7

These variations were only discovered in humans from 2012-2013, and are considered to be uncommon.

Physical Manifestations Of Albinism

Signs and Symptoms of Albinism

Although the color and location of the albinism can vary, the following is a list of associated signs and symptoms that may be present:

• Lack or absence of color in the skin, hair or eyes
• Patches of color missing from the skin
• Lighter than usual hair and skin
• Strabismus (crossed eyes)
• Photophobia
• Functional blindness
• Visual impairment
• Rapid eye movements

The Eyes

Many people think that those with albinism have pink or red eyes, but this is purely a myth. This could be due to certain lighting causing the blood vessels behind the eye to show through, giving them a reddish hue. In fact, most people with albinism have blue eyes, and others can have brown or hazel eyes, depending on the type of albinism.

Treatment for some of the visual defects often involves visual rehabilitation. Problems such as strabismus can be surgically corrected, but it won’t fix the nerve connections between the eye and the brain. Crossed eyes and nystagmus can also be corrected by surgery, but this is more to do with fixing the appearance of the eyes rather than the functionality.

Often reading or seeing glasses will be required, and these may range from regular single lens glasses, to bifocals, or even sometimes glasses with small telescopes attached to their lenses. Due to the low pigment of the iris, albinos are also sensitive to light, and most will need to wear eye protection such as sunglasses when they are outside. They will also require lighting inside to be positioned behind them to prevent glare.

The Skin

Just like everyone else, though perhaps more so, those with albinism need to take extra care of their skin when they are exposed to sunlight. This means that the use of a good quality sunscreen is imperative, and in some cases, keeping the skin covered at all times is necessary. They are more likely to suffer from sunburn and the potential for skin cancer is high given the fairness of their skin.

READ Ocular Albinism Symptoms and Treatment

Social Environment

For centuries, people with albinism have often been treated differently in their social environment because they look different. In some cultures, they were considered to be deathly, due to the whiteness of their skin and hair. A lot of this misunderstanding continues today and sometimes people with albinism are shunned by their peers. Being involved with a support group is useful, and schools are encouraged to support their students with albinism to ensure they bond well with the rest of the students.

Long Term Prognosis

A diagnosis of albinism does not result in a shortened life span. In fact, with a few precautions and visual aids, they can live long, normal and happy lives.