Albinism is set of inherited conditions that prevent processes essential for the production of color in organisms such as chlorophyll in plants and the dark pigment melanin that, in people, gives color to the skin, hair, and eyes and provides protection from ultraviolet light. Recessive genes (present in about 1 in 70 people) carried by both parents cause albinism, which occurs approximately once in every 17,000 births. Albinism impedes the enzyme tyrosinase from converting tyrosine, an amino acid, into Dihydroxyphenylalanine (DOPA), a chemical essential for producing melanin.

Alternative Names of Albinism are: Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome.

Complications of Albinism

Complications of albinism include physical risks as well as social and emotional challenges.

Skin disorders

One of the most serious complications associated with albinism is the risk of sunburn and skin cancer. Long-term exposure to the sun may also cause skin to become coarse, rough and thick (pachyderma).

Social and emotional factors

The reactions of other people to those with albinism can often have a negative impact on people with the condition:

• Children with albinism often experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices.
• Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of a condition rather than being thought of as individuals.
• A long history of myths has attributed supernatural powers or deviant personalities to people with albinism.
• People with albinism usually look very different from members of their own families or ethnic groups and, therefore, may either feel like outsiders or be treated like outsiders.

All of these factors may contribute to social isolation, poor self-esteem and stress.

Causes of Albinism

Genetic mutations that affect the production of a pigment called melanin. There is a cell called the melanocyte that is responsible for giving skin, hair, and eyes pigmentation. In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the epidermis, or outer layer of the skin. There are currently five known genetic types of albinism, the most common being oculocutaneous type 1 (OCA1) and type 2 (OCA2). Oculocutaneous means affecting the eyes and skin ("oculo" meaning eye and "cutaneous" meaning skin).

Patients with OCA1 have mutations in a gene called TYR that is responsible for creating the enzyme tyrosinase, used by cells to convert the amino acid tyrosine into pigment molecules that color the skin, hair, and eyes. OCA2, the most common form of albinism in Africa, results from a mutation in the OCA2 gene, which encodes the P protein. We don't know what this P protein does.

Signs & Symptoms of Albinism

A person with albinism will have one of the following symptoms:

• Absence of color in the hair, skin, or iris of the eye
• Lighter-than-normal skin and hair
• Patchy, missing skin color

Many forms of albinism are associated with the following symptoms:

• Crossed eyes (strabismus)
• Light sensitivity (photophobia)
• Rapid eye movements (nystagmus)
• Vision problems, or functional blindness

Diagnosis of Albinism

1. Albinism can be diagnosed by observation of major or total absence of pigmentation of the appearance of the skin, hair, and eyes.
2. An ophthalmologist should perform a complete examination of the eye of an affected individual.
3. An electroretinogram test should be done to determine brain waves which reveals the abnormal wiring of the visual system in ocular forms of albinism.
4. Chemical testing of hair also provides an easy confirmation of the diagnosis of albinism.
5. The Hair bulb pigmentation test, used to identify carriers, is done by incubating a piece of the person's hair in a solution of tyrosine, an amino acid the body uses to make melanin. If the hair turns dark, it means the hair is making melanin. Light hair means there is no melanin synthesis.
6. The tyrosinase test, which is more precise than the Hair bulb pigmentation test, measures the rate at which hair converts tyrosine into another chemical (DOPA), which is then made into pigment.
7. The most accurate way to determine albinism and its specific type is genetic testing. This is helpful in families with albinism and is useful for specific, isolated populations who carry the trait in them.
8. Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism.
9. Amniocentesis and chorionic villus sampling can also diagnose some types of albinism in pregnancy.

Treatments of Albinism

The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.

Treatment involves protecting the skin and eyes from the sun:

• Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
• Sunscreen should have a high sun protection factor (SPF).
• Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

Prevention of Albinism

Because albinism is inherited, genetic counseling is important. People with a family history of albinism or hypopigmentation should consider genetic counseling.

When to seek Medical Advice

• If your child lacks pigment in his or her hair or skin at birth - as is often the case in infants with albinism - your doctor will order an eye examination and closely follow any changes in your child's pigmentation.
• For some infants the first sign of albinism is a rapid back-and-forth shifting (nystagmus) in the eyes, particularly if the type of albinism has little effect on pigmentation or if your family is mostly fair. If you observe nystagmus in your child's eyes, talk to your doctor.
• Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections, as these signs and symptoms may indicate the presence of Hermansky-Pudlak or Chediak-Higashi syndromes.