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].
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
Aquaron R. Oculocutaneous albinism in Cameroun. A 15-year follow-up. Ophthalmic Paediatr Genet. 1990;11:255–63.
Wei AH, Zang DJ, Zhang Z, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133:1834–40.
Wei AH, Zang DJ, Zhang Z, et al. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. J Genet Genomics. 2015;42:279–86.
DR S, Wang X, Wang C, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat. 2013;34:827–35.
Mauri L, Barone L, Al Oum M, et al. SLC45A2 mutation frequency in oculocutaneous albinism Italian patients doesn’t differ from other European studies. Gene. 2014;533:398–402.
Manga P, Kromberg JGR, Turner A, et al. In Southern Africa, brown oculocutaneous Albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Am J Hum Genet. 2001;68:782–7.
Lekalakala PT, Khammissa RA, Kramer B, et al. Oculocutaneous albinism and squamous cell carcinoma of the skin of the head and neck in Sub-Saharan Africa. J Skin Cancer. 2015;2015:167847. https://doi.org/10.1155/2015/167847; Epub 2015 Aug 12.
Ajose FOA, Parker RA, Merra LL, et al. Quantification and comparison of psychiatric distress in African patients with albinism and vitiligo: a 5-year prospective study. J Eur Acad Dermatol Venereol. 2014;28:925–32.
Renugadevi K, Sil AK, Perumalsamy V, et al. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Mol Vis. 2010;16:1514–24.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG, part of Springer Nature
About this chapter
Cite this chapter
Orfanos, C.E. (2018). Oculocutaneous Albinism. In: Orfanos, C., Zouboulis, C., Assaf, C. (eds) Pigmented Ethnic Skin and Imported Dermatoses. Springer, Cham. https://doi.org/10.1007/978-3-319-69422-1_41
Download citation
DOI: https://doi.org/10.1007/978-3-319-69422-1_41
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-69421-4
Online ISBN: 978-3-319-69422-1
eBook Packages: MedicineMedicine (R0)