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Oguchi disease-2

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Description

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). For a general description and a discussion of genetic heterogeneity of Oguchi disease, see CSNBO1 (258100).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

16

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Genes

External Links

  • OMIM

    613411

  • Orphanet
  • HPO
  • Medgen

    C3150678

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