Orphanet: Oculocutaneous albinism
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Oculocutaneous albinism

Disease definition

A group of rare genetic hypopigmentation disorders 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, OCA7 and OCA8.

ORPHA:55

Classification level: Group of disorders
  • Synonym(s):
    • OCA
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: -
  • ICD-11: EC23.20
  • OMIM: -
  • UMLS: C0078918
  • MeSH: D016115
  • GARD: 10958
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2013) Italiano (2013) Greek (2014, pdf) Polski (2013, pdf) Russian (2013, pdf) Suomi (2013, pdf)

Detailed information

General public

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.