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Åland Islands eye disease

Disease definition

An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ORPHA:178333

Classification level: Disorder
  • Synonym(s):
    • AIED
    • Forsius-Eriksson syndrome
    • Forsius-Eriksson type ocular albinism
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: H35.5
  • OMIM: 300600
  • UMLS: C0268505
  • MeSH: -
  • GARD: 10574
  • MedDRA: -

Detailed information

Professionals

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