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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa with or without situs inversus

Retinitis pigmentosa with or without situs inversus

Synonyms
Retinitis pigmentosa 82; Retinitis pigmentosa 82 with or without situs inversus

Summary

Retinitis pigmentosa-82 with or without situs inversus (RP82) is an autosomal recessive form of retinal degeneration characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual-field constriction as both rod and cone photoreceptors die. Some affected individuals have situs inversus (Davidson et al., 2013; Audo et al., 2017). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BART, BART1, RP66, ARL2BP
    Summary: ADP ribosylation factor like GTPase 2 binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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