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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 38

Retinitis pigmentosa 38

Synonyms
ROD-CONE DYSTROPHY, CHILDHOOD-ONSET

Summary

Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by Mackay et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MER, RP38, Tyro12, c-Eyk, c-mer, MERTK
    Summary: MER proto-oncogene, tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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