Individuals with little or no pigmentation in their hair, skin, or eyes usually have one of several forms of albinism. Multiple types have been described based in part on the color of the skin and hair but gene studies may be necessary for definitive diagnosis. All types are caused by gene mutations.
The white hair color and fair skin is evident from birth. Examination of the eyes also reveals lack of pigmentation. All patients develop nystagmus (to-and-fro motion) and are unable to focus steadily on targets. Vision is reduced lifelong and most individuals are highly sensitive to light. The macular area of the retina (the area used for sharpest vision) is underdeveloped. Many patients also develop crossing of the eyes (strabismus). The hair may acquire a brownish tinge with maturation and the skin may tan slightly.
Like most 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. Genotyping (gene testing) is necessary to confirm the diagnosis.
Dermatologists and pediatricians are most likely to make the diagnosis. An eye examination by an ophthalmologist can help confirm the diagnosis. There are no adverse health effects and longevity is normal.
No treatment is available for the lack of pigmentation. Vision is stable throughout life but visual function can be improved with low vision aids. Excessive exposure to sunlight should be avoided.