Albinism

(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)

Definition

Albinism refers to a group of rare inherited disorders that are present from birth. Albinism affects the amount of pigment found in the skin, hair, and eyes. People with albinism usually have little to no pigment in their eyes, skin, and hair. The degree of pigment loss can be quite variable. There are different types of albinism:
  • Oculocutaneous albinism
    • Type 1—complete absence of pigment. Skin, hair, and eyes lack all pigment from birth. Freckles or moles will not appear at any time during their lifetimes. This group is divided into several subtypes depending on associated characteristics.
    • Type 2—decreased pigment, but may still have freckles and moles. This form of albinism is more common among persons of African descent. This form may be associated with such minor pigment loss that it is noticed only by looking at differences among other non-affected family members.
    • Both Type 1 and Type 2 albinism are usually associated with visual problems including nystagmus (abnormal jumping movements of the eyes) and decreased visual acuity, which is frequently not fully improved with glasses or contact lenses.
    • Type 3—reddish brown skin, reddish hair, and hazel or brown eyes, generally black South Africans
    • Type 4––similar to type 2, predominantly in Japanese persons
  • Ocular albinism––an X-linked albinism where there are vision problems without changes in skin or hair
  • Hermansky-Pudlak––in addition to albinism, persons also have lung, bowel, and bleeding problems
  • Chediak-Higashi––in addition to albinism, persons also have immune problems with defects in the immune system

Causes

Albinism is caused by altered genes. The affected genes control the body's ability to make a pigment called melanin.Altered genes are most often inherited from parents. Both parents will need to have the altered genes in order for the child to develop most types of albinism.People can carry one set of altered genes and not have signs of albinism. They are called carriers. The second, healthy set of genes prevents the disease from developing.

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