The inherited condition known as albinism has been known since antiquity. In fact, the biblical Noah is claimed by some to have been an albino. Multiple types have been described and all are caused by mutations in genes that are involved in the synthesis of pigment.
This type of albinism is characterized by reduced pigmentation in the eyes, hair and skin. There are secondary changes in the retinas (light sensing tissue inside the eye) of the eye that lead to dysfunction of the rods and cones resulting in loss of vision. The condition is is most common in dark-skinned individuals. The skin is often light brown at birth and subject to some tanning. The hair may be light brown but is often copper-red and hence this type of albinism is sometimes called brown or rufous oculocutaneous albinism. The colored part of the eye (iris) may be light brown or gray-blue. The eyes usually have a to-and-fro motion (nystagmus) and are unable to fixate on a target. About half of affected individuals have crossed eyes (strabismus). Vision is stable in the range of 20/50 to 20/200. There is some sensitivity to light (photophobia) but this is not as marked as in other types of albinism.
People with a subtype of this condition may have darkening of the skin, hair, and iris as they grow older but the vision does not improve.
Like most other types of oculocutaneous albinism, the inheritance follows an autosomal recessive pattern. Two mutations are necessary for the disorder to be expressed. Carrier parents with one mutation have normal colored skin and hair but each of the children of two such parents have a 25% risk of inheriting albinism.
The diagnosis is evident at birth from the color of hair and skin. The nystagmus may not be present until about one year of age. No treatment is available for the pigmentation defect but low vision aids may be helpful for visual tasks. There are no associated health problems and patients can look forward to a normal lifespan. Sun exposure should be limited to reduce the risk of skin cancer.