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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 87 with choroidal involvement

Retinitis pigmentosa 87 with choroidal involvement

Summary

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. [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65, RPE65
    Summary: retinoid isomerohydrolase RPE65

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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