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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy 5

Cone-rod dystrophy 5

Summary

Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life (Kohn et al., 2007; Reinis et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACKR6, CORD5, NIR1, RDGBA3, PITPNM3
    Summary: PITPNM family member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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