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Retinitis pigmentosa 46

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Description

Retinitis pigmentosa-46 (RP46) is characterized by night blindness, loss of peripheral vision, and reduced visual acuity. Funduscopic findings are typical of RP, including pale optic discs, attenuated retinal vessels, and intraretinal pigment deposits. Electroretinography shows substantial loss of rod and cone photoreceptor function (Hartong et al., 2008). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    612572

  • Orphanet
  • HPO
  • Medgen

    C2675496

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