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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 39

Retinitis pigmentosa 39

Summary

Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al., 2007; Jung et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. [from OMIM]

Available tests

63 tests are in the database for this condition.

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Clinical tests (63 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RP39, US2, USH2, dJ1111A8.1, USH2A
    Summary: usherin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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