Albinism epidemiology and demographics: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Prevalence=== | |||
* The [[prevalence]] of [[albinism]] is estimated to be 1:17,000 to 1:20,000 in the general [[population]] <ref name="pmid546241">{{cite journal| author=Witkop CJ| title=Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. | journal=Ala J Med Sci | year= 1979 | volume= 16 | issue= 4 | pages= 327-30 | pmid=546241 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=546241 }} </ref> <ref name="pmid7874125">{{cite journal| author=Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB | display-authors=etal| title=Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). | journal=Hum Mol Genet | year= 1994 | volume= 3 | issue= 11 | pages= 2047-51 | pmid=7874125 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7874125 }} </ref><ref name="pmid10094567">{{cite journal| author=Oetting WS, King RA| title=Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. | journal=Hum Mutat | year= 1999 | volume= 13 | issue= 2 | pages= 99-115 | pmid=10094567 | doi=10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10094567 }} </ref> | * The [[prevalence]] of [[albinism]] is estimated to be 1:17,000 to 1:20,000 in the general [[population]] <ref name="pmid546241">{{cite journal| author=Witkop CJ| title=Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. | journal=Ala J Med Sci | year= 1979 | volume= 16 | issue= 4 | pages= 327-30 | pmid=546241 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=546241 }} </ref> <ref name="pmid7874125">{{cite journal| author=Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB | display-authors=etal| title=Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). | journal=Hum Mol Genet | year= 1994 | volume= 3 | issue= 11 | pages= 2047-51 | pmid=7874125 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7874125 }} </ref><ref name="pmid10094567">{{cite journal| author=Oetting WS, King RA| title=Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. | journal=Hum Mutat | year= 1999 | volume= 13 | issue= 2 | pages= 99-115 | pmid=10094567 | doi=10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10094567 }} </ref> | ||
* In the US, about 18,000 people have [[albinism]] | * In the US, about 18,000 people have [[albinism]] | ||
Revision as of 14:50, 16 September 2021
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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
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
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".