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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 49

Retinitis pigmentosa 49

Summary

Retinitis pigmentosa-49 (RP49) is characterized by onset of night blindness in childhood, followed by progressive loss of visual fields and reduced visual acuity. Typical fundus features are present, including pale optic disc, attenuated vasculature, and pigment deposits in the midperiphery (Zhang et al., 2004; Katagiri et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

29 tests are in the database for this condition.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49, CNGA1
    Summary: cyclic nucleotide gated channel subunit alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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