Albinism

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, but the degree of pigment loss can be quite variable. There are four 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 minimal pigment loss that it is evident only by comparison with 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.


X-Linked albinism

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 white blood cells.