Albinism is a genetic disorder, a congenital skin disease in which the skin, hair and eyes lack pigmentation, and is autosomal recessive, or sex-linked recessive, in nature.
Albinism was one of the first genetic disorders to receive attention, but its molecular mechanisms are not fully understood. It is mostly thought to be a congenital enzyme defect, such as insufficient tyrosine production or reduced or deficient enzyme activity, resulting in the inability of melanin precursors in melanocytes to convert to melanosomes, or the inability of melanosomes to blacken and develop albinism. The skin and hair are pale white or yellowish, and due to the lack of melanin protection, the skin is sensitive to light and prone to sun spots or photosensitive dermatitis after sun exposure.
Albinism is caused by consanguineous marriages, in which both spouses pass on the disease causing gene to their children and the children become sick. Both sexes have an equal chance of developing the disease, and the probability of occurrence is 25%. The type of albinism that is dominated by eye damage is called oculocutaneous albinism.
Treatment for albinism is based on symptomatic treatment and reduction of UV damage to the skin and eyes. In addition, the birth of children with the disease can be prevented through genetic counseling, prohibition of consanguineous marriage, and prenatal genetic diagnosis.