Orphanet: Minimal pigment oculocutaneous albinism type 1
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Minimal pigment oculocutaneous albinism type 1

Disease definition

An extremely rare form of Oculocutaneous albinism type 1 with minimal pigment present, characterized by blond hair (white at birth), variable iris transillumination (blue irides at birth followed by minimal development of pigment during the first decade of life), visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.

ORPHA:352734

Classification level: Subtype of disorder
  • Synonym(s):
    • MP OCA type 1
    • OCA1-MP
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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