Albinism

What is Albinism?

Albinism is a condition wherein the skin, eyes, and hair of a person is afflicted by a partial or complete loss of pigmentation. This disorder of melanin production in the skin is inherited and affects people from all races. A person with albinism is often referred to as a an ‘albino’ and while some forms of the condition can be life threatening, most people with albinism can live a normal life. Apart from humans, animals, fish, and birds can also be affected by this condition. 

There are different types of albinism:

Oculocutaneous albinism (OCA) is the most common form of the condition and affects the hair and skin of a person. OCA can be further categorized into Type 1 albinism and Type 2 albinism depending on the type of genetic defect causing the condition. 

The second type of albinism (Type 2) a more severe form of albinism and it affects not only the hair and skin but also a person’s eyes. The iris of the person turns white or pink in such cases. Defects of vision such as short sightedness and myopia also tend to develop.

Other types of albinism include Ocular Albinism type 1, Waardenberg syndrome, Chediak-Higashi syndrome, Tuberous sclerosis and Hermansky-Pudlak Syndrome or HPS.

Alternative Names: Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome, hypopigmentation. 

Causes of Albinism

Albinism is related to genetic defects. These defects prevent the body from producing or distributing melanin and imparting color to hair, skin, and eyes. In type 1 albinism, the genetic defects affect the production of melanin while in type 2 albinism, an inherited defect in the ‘P’ gene gives rise to the condition. Albinism is therefore inherited but in some cases, a person may merely be the carrier of the defective gene and does not suffer from albinism. 

The following people fall in the high-risk category for developing albinism:

• People who have parents with albinism
• People who have family members with albinism
• People with parents who are carriers of the defective gene causing albinism but do not suffer from albinism themselves
• Puerto Rican people are more susceptible to developing Hermansky-Pudlak syndrome

Symptoms of Albinism

Common signs and symptoms of albinism include:

• Lack of pigmentation or coloring of the hair and skin
• Some cases of albinism also affect the color of the iris in the eye
• Paler than normal skin or hair color
• Patches of pale skin
• Vulnerability to skin cancer
• Prone to sunburns
• White hair
• Some forms of albinism are also associated with symptoms such as crossed eyes, sensitivity to light, rapid eye movements, and other problems with vision
• Albinism could also lead to functional blindness
• Tendency to bleed excessively
• Prone to infections / low immunity
• Problems with bowels
• Breathing problems
• Disorders of the nervous system
• Deafness

Diagnosis of Albinism

The most accurate way to diagnose albinism is by genetic testing. If you fall within the high-risk group of people prone to albinism or have a family history of the condition, genetic testing is highly recommended.

Other tests for albinism include a physical check up and an electroretinogram test. A simple look at your physical appearance will give your doctor an idea about the severity of the lack of pigmentation. In cases where albinism also affects the eyes, an electroretinogram should be performed by an ophthalmologist to determine the extent of problems with vision. If the diagnosis regarding albinism and visual problems is still uncertain, an additional visual evoked potentials test is useful. 

Chemical testing of hair also helps confirm the presence of albinism. 

Other tests for the diagnosis of albinism include:

The Hairbulb Pigmentation Test: In this test, a person’s hair is incubated in a tyrosine solution. Tyrosine is a non-essential amino acid that the body uses to make melanin. If the hair turns dark, it indicates normal melanin synthesis whereas if the hair stays light, it means there is no melanin made by the hair. This is a popular test to identify carriers of the condition before the physical symptoms are evident.

The Tyrosinase Test: A more accurate version of the hairbulb pigmentation test, this measures the rate at which tyrosine is converted into DOPA (another chemical) and then into pigment by the hair.

There is a new type of blood test that has recently been developed that can help identify carriers of certain types of genes that may lead to albinism.

During pregnancy, a mother can opt for amniocentesis or chorionic villus sampling to indicate some forms of albinism in the developing fetus.

Prognosis of Albinism

The prognosis of albinism is largely positive. Albinism does not affect the lifespan of the person. However, people suffering from Hermansky-Pudlak syndrome (a type of albinism) are more prone to bleeding problems and diseases of the lungs and therefore tend to have shorter life spans. 

Some of the other complications associated with albinism include:

• Inability to tolerate the sun
• Problems with vision
• Functional blindness
• Vulnerability to skin cancer

If you suffer from albinism and find yourself becoming increasingly sensitive to light or notice any changes in your skin that might indicate the early signs of skin cancer, contact your doctor immediately. People with albinism also tend to develop problems with their vision. This is due to abnormalities in the nerve connections between the brain and the eyes as well as retinal development issues. This leads to visual problems such as far sightedness, astigmatism, near sightedness and nystagmus (a condition where the eyes move back and forth involuntarily). 

Treatment for Albinism

Treatments for albinism will depend on the severity of the symptoms. As of now there is no cure for albinism. The ultimate aim of any treatment for albinism is to relieve any discomfort and reduce symptoms. Treatment generally includes:

• Protecting the skin from the sun by using sunscreen, shielding the skin, wearing sunglasses with UV protection for the eyes or avoiding the sun altogether.
• Special UV-proof clothing and swimwear are now available that are more effective in sun protection than ordinary sunscreen.
• If you suffer from visual problems as a result of albinism, prescription glasses may be recommended.
• In severe cases, eye muscle surgery can correct abnormal movements of the eyes such as nystagmus.
• Young children with albinism may require bifocal glasses.
• People with photophobia need to wear dark glasses to protect the eyes from sunlight and bright light.

Living with Albinism

Living with albinism can take some getting used to especially for children with the condition. Self-care practices such as using sunscreen at all times, avoiding high-risk exposure to the sun, and protecting the eyes should be taught at an early age. Children and adults with albinism may also benefit from the use of low vision aids such as a magnifying glass or a monocular that attaches to the glasses. 

Vision impairment is one of the biggest challenges of albinism and many people with the condition develop their own set of coping skills to make adjustments. For example, tilting the head to one side may reduce the effects of nystagmus.

Schooling can be a difficult time for children with albinism. In addition to the stigma attached to their looks, they may also have problems studying due to visual problems. 

Parents of children with albinism should educate the school authorities and administration about albinism and how it affects the child. Changes such as keeping the child seated at the front of the class and the use of large-print textbooks can help encourage the child to participate in class.

With regard teasing and social isolation, adults and children with albinism can find a support group of peers online or in the community. Organizations such as the National Organization for Albinism and Hyperpigmentation (NOAH) can be contacted for more information. If the situation is too difficult to handle, visiting a counselor or therapist can be beneficial. 

The bottom line is that albinism cannot be cured or prevented. However, if parents suspect that they may be carriers of the gene that causes albinism, it is recommended that they visit a genetic counselor before getting pregnant. If already pregnant, prenatal tests can be carried out to determine if the fetus has inherited the genetic mutations responsible for albinism. A genetic counselor will inform and educate parents about the challenges of having a child with albinism so that both partners can make an informed decision.

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Photo : Cosmopolitan