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Retinitis pigmentosa 87 with choroidal involvement

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Description

Retinitis pigmentosa-87 with choroidal involvement (RP87) is characterized by a slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia. Disease severity and age of onset are variable, and some carriers are unaffected (Hull et al., 2016; Li et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

5

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Genes

External Links

  • OMIM

    618697

  • Orphanet
  • HPO
  • Medgen

    C5231465

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