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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 43

Retinitis pigmentosa 43

Summary

Retinitis pigmentosa-43 (RP43) is characterized by night blindness in the first decade of life, with progressive loss of peripheral visual fields and reduction in visual acuity. Examination reveals typical features of RP, including waxy pallor of optic disc, attenuated retinal vessels, and bone-spicule pigment in midperipheral retina. Macular edema and/or atrophy has been observed in some patients. Electroretinographic responses are markedly reduced or absent (summary by Huang et al., 1995 and Corton et al., 2010). [from OMIM]

Available tests

26 tests are in the database for this condition.

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Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGPR-A, PDEA, RP43, PDE6A
    Summary: phosphodiesterase 6A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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