Orphanet: Oculocutaneous albinism

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Oculocutaneous albinism

Disease definition

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


Classification level: Group of disorders
  • Synonym(s):
    • OCA
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: -
  • UMLS: C0078918
  • MeSH: D016115
  • GARD: 10958
  • MedDRA: -

Detailed information

Article for general public


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