Albinism epidemiology and demographics
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]
Overview
The prevalence of albinism is estimated to be 1:17,000 to 1:20,000 in the general population.The Prevalence of different types of albinism varies and the most prevalent form is Oculocutaneous albinism 2 (OCA2).
Epidemiology and Demographics
Prevalence
- The prevalence of albinism is estimated to be 1:17,000 to 1:20,000 in the general population [1] [2][3]
- In the US, about 18,000 people have albinism
- The Prevalence of different types of albinism varies
- Oculocutaneous albinism 2 (OCA2) is the most prevalent form
- The prevalence of different subtypes are as follows: [4]
- OCA1 occurs in 1: 40,000 individuals worldwide; 70% of cases occurs in America and China
- OCA2 occurs in 1: 39,000 individuals worldwide; this prevalence is estimated to be 1: 10,000 in African Americans, 1:36,000 in overall Americans, and 1:3,900 in Sub-Saharan Africa
- OCA3 occurs in 1: 8500 individuals in Africa
- OCA4 occurs in 1: 100,000 individuals; accounts for 24% of Japanese albinism
- OCA5, OCA6, and OCA7 cases are very rare
- Hermansky-Pudlak syndrome (HPS) occurs in 1: 500,000 population worldwide; the prevalence of HPS is 1:1800 in Puerto Rico
- Chediak-Higashi syndrome (CHS) is very rare; less than 50 cases were identified in the last 20 years
- Ocular albinism (OA1) occurs in 1:50,000 individuals
Age
- As albinism is a hereditary disease, it can be diagnosed from early ages of life
Race
- There is no racial predilection to albinism
Gender
- Since ocular albinism is considered a X-linked recessive, it affects man more than women
References
- ↑ Witkop CJ (1979). “Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism”. Ala J Med Sci. 16 (4): 327–30. PMID 546241.
- ↑ Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB; et al. (1994). “Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)”. Hum Mol Genet. 3 (11): 2047–51. PMID 7874125.
- ↑ Oetting WS, King RA (1999). “Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism”. Hum Mutat. 13 (2): 99–115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567.
- ↑ “Albinism – StatPearls – NCBI Bookshelf”.
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