Albinism epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  Shadan Mehraban, M.D.[2]

## Overview[edit | edit source]

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[edit | edit source]

### Prevalence[edit | edit source]

* 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[edit | edit source]

* As albinism is a hereditary disease, it can be diagnosed from early ages of life

### Race[edit | edit source]

* There is no racial predilection to albinism

### Gender[edit | edit source]

* Since ocular albinism is considered a X-linked recessive, it affects man more than women

## References[edit | edit source]

1. ↑ 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.
2. ↑ 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.CS1 maint: Multiple names: authors list (link)
3. ↑ 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.
4. ↑ "Albinism - StatPearls - NCBI Bookshelf".

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