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Ocular albinism, type II

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Description

Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001).

OMIM

  • Mode of Inheritance

  • X-linked inheritance

VARIANTS

9

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Genes

External Links

  • OMIM

    300600

  • Orphanet

    178333

  • HPO
  • Medgen

    C0268505

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