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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 47

Retinitis pigmentosa 47

Summary

Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RP47, RP96, S-AG, SAG
    Summary: S-antigen visual arrestin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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