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Retinitis pigmentosa 2

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Description

Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

OMIM

  • Mode of Inheritance

  • X-linked inheritance

VARIANTS

11

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Genes

External Links

  • OMIM

    312600

  • Orphanet
  • HPO
  • Medgen

    C2681923

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