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Albinism

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Albinism, derived from the Latin albus, is a group of inherited disorders in which melanin biosynthesis is reduced or absent. It involves the skin, hair, and eyes (oculocutaneous albinism) or may be limited primarily to the eyes (ocular albinism). Current classification of albinism is determined by the affected gene, making the previously used terms “partial or complete” and “tyrosinase positive or tyrosinase negative” obsolete (King and Oetting 2007; Summers et al. 1996). The prevalence of all forms of albinism varies considerably worldwide, estimated at approximately 1/17,000 and about 1 in 70 people carry a gene for oculocutaneous albinism (OCA) (Grønskov et al. 2007).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2015). Albinism. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_8-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_8-2

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  • Online ISBN: 978-1-4614-6430-3

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