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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Albinism epidemiology and demographics

Introduction

Overview

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

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

References

References

  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.
  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”.

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