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ABCMD Clinic definition of Albinism: 

Albinism is a congenital absence of any pigmentation (coloration) which results in pink eyes or white hair.

What is Albinism?

Albinism is an inherited disorder which is present at birth. It is characterized by lack of a pigment that gives color to hair, eyes and skin called Melanin. There are many types of albinism. All of these types involve lack of pigment in varying degrees. This disorder may be accompanied by eye problems and may lead to skin cancer.

Albinism is not a common condition. In the US and Europe only 1 person in every 20,000 is affected by this disorder. It is more common in Nigeria where around 4 of every 20,000 people are affected by this condition.

What causes Albinism?

Each and every cell of the human body contains two genes, one inherited from each parent. These genes guide the development and determine the features of human body. A flaw in one or more genes, which are responsible for directing the eyes and hair to produce Melanin, causes albinism. As a result of this flaw, little or no pigment is produced, and the child’s eyes, skin and hair remain colorless.

What are symptoms of Albinism?

Symptoms of albinism depend on the specific type of albinism.

For eyes, the signs or symptoms may include:

·         Irregular and rapid eye movements

·         Sensitivity to bright lights

·         Wandering eyes

·         Decrease in sharpness of eyes

For skin, the signs or symptoms may include:

·         White skin

·         High sensitivity to sunburns

·         Patchy or pale areas in the skin

For the hair, the signs or symptoms may include:

·         Portion of the hair near forehead may turn white

·         All of the hair may be white due to complete absence of pigment

Other symptoms of albinism may include increased susceptibility to infections, bleeding tendency, disorders of the nervous system and breathing problems.

How Albinism is diagnosed?

An examination of the patient along with a good family history is required to diagnose Albinism. 

The following tests may be performed to diagnose albinism:

·         Tyrosinase test: Tyrosinase is a substance which helps the hair to make pigment. This test measures the rate at which the hair converts this substance to make pigment.  In Albinism, this will be much lower then normal or absent altogether. 

·         Hairbulb pigmentation test: In this test a piece of hair is incubated in a solution of tyrosine, a substance which makes pigment. If the hair turns dark it means that the hair is making pigment, but if the hair remains light, it means there is no melanin.

·         Chorionic villus sampling test: This test is used during the fifth week of pregnancy to identify albinism.

How is albinism treated?

No treatment has been found so far which can replace the lack of pigment for people with Albinism. The problems related to skin can be prevented or treated, but not cured. To ease pain from excessive sunlight, glasses can be used. There is no cure for involuntary eye movements. Surgery or contact lenses are sometimes used to treat focusing problems, but they are not always helpful.

Patients with this condition should try to avoid excessive sunlight because this can lead to skin cancer.

Talk to your doctor about other measures they may recommend such as wearing opaque clothes and using sunscreen rated SPF 20 or greater.