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Ocular albinism with late-onset sensorineural deafness

Disease definition

Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.


Classification level: Disorder
  • Synonym(s):
    • Ocular albinism with late-onset sensorineural hearing loss
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adult
  • ICD-10: E70.3
  • OMIM: 300650
  • UMLS: C1845069
  • MeSH: C537043
  • GARD: 592
  • MedDRA: -

Detailed information

Article for general public


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