Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the skin, hair and/or eyes. Albinism occurs in all racial and ethnic groups throughout the world. In the Uganda, approximately one in 15,000 to 20,000 people has some type of albinism. In other parts of the world, the occurrence can be as high as one in 3,000.
Due to the fact that many persons with albinism have lighter skin completion than most Africans, the sun affects them. It is important that they wear protective clothing, sunscreen or sun block, wide brimmed hats and sun glasses.
People with albinism have vision problems that are not correctable with eyeglasses, and many have low vision. It’s the abnormal development of the retina and abnormal patterns of nerve connections between
the eye and the brain that cause vision problems. The presence of these eye problems defines the diagnosis of albinism.
The degree of impairment varies with the different types of albinism. Although people with albinism may be considered “legally blind” with a corrected visual acuity of 20/200 or worse, most learn to use their
There are many different types of albinism, but the term typically refers to two: oculocutaneous albinism (OCA) and ocular albinism. There are three types of OCA which are referred to as OCA type 1, OCA type 2, and OCA type 3.
Each type of albinism results from a mutation of a specific gene on a specific chromosome that causes a dysfunction of cells called melanocytes. These cells produce the melanin, or pigment, that imparts color to skin, hair, and eyes. In other words, it’s melanin that determines if someone is a blonde or a redhead, has blue eyes or hazel ones, and so on.
Albinism can occur alone or as a symptom of separate disorders, such as Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Waardenburg syndrome.
All types of albinism cause some lack of pigment, but the amount varies:
⦁ OCA type 1 usually involves a complete absence of pigment in the skin, hair, and eyes, although some people may have a small degree of pigmentation. OCA type 1 also causes photophobia (sensitivity to light), reduced visual acuity, and ⦁ nystagmus (involuntary eye twitching).
⦁ OCA type 2 is characterized by minimal to moderate pigmentation in the skin, hair, and eyes, as well as eye problems similar to those associated with OCA type 1.
⦁ OCA type 3 is sometimes difficult to identify based on appearance alone. It’s most noticeable when a very light-skinned child is born to dark-skinned parents. People with OCA type 3 usually have vision problems, but these tend to be less severe than in folks with OCA type 1 or type 2.1
⦁ Ocular albinism affects only the eyes, causing minimal pigmentation in them. The iris may appear translucent. Reduced visual acuity, nystagmus, and difficulty controlling eye movements may occur.