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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy 3

Cone-rod dystrophy 3

Summary

Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

Available tests

47 tests are in the database for this condition.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, ABCA4
    Summary: ATP binding cassette subfamily A member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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