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Oculocutaneous albinism type 1B

Disease definition

A form of oculocutaneous albinism type 1 (OCA1) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


Classification level: Subtype of disorder
  • Synonym(s):
    • OCA1B
    • Oculocutaneous albinism, Amish type
    • Platinum oculocutaneous albinism
    • Yellow oculocutaneous albinism
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • ICD-11: EC23.20
  • OMIM: 606952
  • UMLS: C1847024
  • MeSH: C537729
  • GARD: 594
  • MedDRA: -

Detailed information

General public


  • Clinical practice guidelines
  • English (2021) - J Eur Acad Dermatol Venereol

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.