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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). Male patients with infertility due to reduced or absent sperm motility have been reported; female fertility appears to be unaffected (Moye et al., 2019). [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: BART, BART1, RP66, RP82, ARL2BP
    Summary: ARF like GTPase 2 binding protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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