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Albinism

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Atlas of Genetic Diagnosis and Counseling

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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 et al. 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).

Synonyms and Related Disorders

Chediak–Higashi syndrome; Griscelli syndrome; Hermansky–Pudlak syndrome; Oculocutaneous albinism (OCA) type 1 (tyrosinase-negative OCA, tyrosinase-related OCA); OCA type 2 (tyrosinase-positive OCA); OCA type 3 (Brown albinism); OCA, X-linked

Genetics/Basic Defects

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Editors and Affiliations

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

    Harold Chen

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© 2012 Springer Science+Business Media, LLC

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(2012). Albinism. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_8

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