Orphanet: X linked recessive ocular albinism

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X-linked recessive ocular albinism

Disease definition

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


  • Synonym(s):
    • OA1
    • Ocular albinism type 1
    • Ocular albinism, Nettleship-Falls type
    • XLOA
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 300500
  • UMLS: C0342684
  • MeSH: C537863
  • GARD: 8471
  • MedDRA: -

Detailed information

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Additional information

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