Definition
Albinism is a defect of melanin production. This defect results in the partial or full absence of pigment (color) from the skin, hair, and eyes.
Symptoms
For those with albinism, one of the following will be present:
- Absence of pigment from the hair, skin, or iris of eyes
- Patchy absence of pigment ( skin color, patchy )
- Lighter than normal skin and hair
Many forms of albinism have some of the following possible symptoms:
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Definition
Albinism is a defect of melanin production. This defect results in the partial or full absence of pigment (color) from the skin, hair, and eyes.
Symptoms
For those with albinism, one of the following will be present:
- Absence of pigment from the hair, skin, or iris of eyes
- Patchy absence of pigment ( skin color, patchy )
- Lighter than normal skin and hair
Many forms of albinism have some of the following possible symptoms:
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Causes
Albinism results when the body is unable to produce or distribute pigment, called melanin, because of one of several possible genetic defects. In Type 1 albinism, defects in the metabolism of tyrosine lead to failure in converting this amino acid to melanin. This is due to a genetic defect in tyrosinase -- the enzyme responsible for metabolizing tyrosine.
Type 2 albinism is due to a defect in the "P" gene. Those with this type have slight pigmentation at birth.
In the most severe form of albinism (called oculocutaneous albinism), those affected appear to have hair, skin, and iris color that are white or pink as well as vision defects. This is inherited via an autosomal recessive process.
Albinism of just the eyes also occurs. This is called ocular albinism type 1 (OA1) and can be inherited via ...
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Treatment
Treatment aims to ease symptoms and depends on the extent of the disorder.
The skin and eyes must be protected from the sun. Sunglasses (UV protected) may relieve photophobia. Sunburn risk can be reduced by avoiding the sun, by using sunscreens and covering completely with clothing when exposed to sun. Sunscreens should have a high SPF (sun protection factor).
Other Names
Oculocutaneous albinism; Ocular albinism
Outlook (Prognosis)
Mostly, albinism does not change one's expected lifespan. For those with Hermansky-Pudlak syndrome, however, life expectancy may be shortened due to lung disease or bleeding problems.
Activities for those with albinism may be limited by intolerance to the sun.
Prevention
As this is a large group of inherited conditions genetic counseling is important. Genetic counseling should be considered for individuals with a family history of albinism or hypopigmentation.
Exams and Tests
The most accurate way to determine albinism and the specific type is genetic testing. This is helpful in families with albinism and is useful for specific, isolated populations such as the Hopi Indian tribe of the Southwestern U.S.
There are several ethnic groups in Central and South American who carry this trait. A small blood sample is obtained from the affected individual and the parents and molecular genetic analysis of the DNA code is performed to identify the affected genes.
The disorder may also be diagnosed based on the appearance of the skin, hair, and eyes. It is very helpful for an ophthalmologist to perform a complete examination of anyone with albinism. A electroretinogram test, to determine brain waves produced by light shined in the eye, can reveal "abnormal wiring" of the visual system in ocular forms of albinism.
