Variants
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Retinitis pigmentosa 69

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Description

Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2

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Genes

External Links

  • OMIM

    615780

  • Orphanet
  • HPO
  • Medgen

    C4014312

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