Phenotypic Variation in Pigmentation of Persons with Albinism in Rejang Lebong, Bengkulu

Abstract

Albinism is a congenital disorder, a group of genetic disorders in which there is a partial or total lack of the pigment melanin in the eyes, skin, and hair. It is caused by one or more enzymes committed to the biosynthesis of melanin, and one of them are a deficiency of the tyrosinase. It is a genetic disorder transmitted by an autosomal recessive gene. The research was conducted from August-November 2019. It was aimed to determine the variety of pigmentation on the skin, hair, and eyes of the human population with albinism disorder in Rejang Lebong, Bengkulu Province, by using the descriptive research method based on qualitative data. Data were collected by interviews with the family of persons with albinism disorder. The results showed that the color of skin, hair, and eyes are varied between individuals, although they are siblings. The skin color is varied from white to reddish or pale brown. Hair color ranges from fawn, brown, reddish-yellow to reddish-brown, while the color of the eyes is more varied, from yellowish-brown, dark-brown, light-grey, greenish-blue, bluish-black. About 57% of the participants had strabismus problems, and 43% had iris transillumination,1 00% had nystagmus. They all come from the family that had phenotypically normal parents. More than 50% of the family members did not have the albinism phenotype until the previous 2-3 generations.