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Oculocutaneous albinism type 1A

Disease definition

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

ORPHA:79431

  • Synonym(s):
    • OCA1A
    • Tyrosinase-negative oculocutaneous albinism
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 203100
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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