Albinism Definition & Overview

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, but the degree of pigment loss can be quite variable. There are three types of Albinism:

Type 1—persons have complete absence of pigment. Their skin, hair, and eyes lack all pigment from birth, and they do not develop freckles or moles at any time during their lifetimes. This group is divided into several subtypes depending on associated characteristics.

Type 2—persons have decreased pigment, but may still have freckles and moles. This form of albinism is more common among persons of African descent and may be associated with such minimal pigment loss that it is evident only by comparison with other non-affected family members.

Type 3, ocular albinism—is characterized by loss of eye pigment and poor vision without any changes in skin or hair.

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.