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Oculocutaneous Albinism

  • Constantin E. Orfanos
Chapter

Abstract

Albinism is a group of hereditary diseases with varying clinical phenotypes, characterized by disturbances of melanogenesis and reduced amounts or lack of melanin in the skin, the hair, and the eyes (oculocutaneous). It involves people of all ethnic backgrounds in all continents, equally affecting both sexes, but is more common in populations with pigmented or black skin in African countries and in Americans of African descent. The worldwide prevalence of various types of oculocutaneous albinism (OCA) has been estimated to be approximately 1:30–40,000, at the average 1:17,000, suggesting that around 1 out of 70 individuals carries a gene for OCA [1]. Large differences of prevalence are seen between geographic regions, urban and rural areas, and ethnic groups, the highest in sub-Saharan countries, 1:5000–10,000 at the average. Rates of albinism as high as 1:1000 have been reported in tribes in Zimbabwe (Tonga), 1:1100 in Nigeria (Ibo), and 1:7900 in Cameroon (Bamileke), also related to the inbreeding tendencies [2].

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.The Free University of Berlin, Medical School CharitéBerlinGermany

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