Variants
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Retinitis pigmentosa 38

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Description

Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

37

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Genes

External Links

  • OMIM

    613862

  • Orphanet
  • HPO
  • Medgen

    C3151228

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