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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy 24

Cone-rod dystrophy 24

Summary

Cone-rod dystrophy-24 (CORD24) is characterized by night blindness, defective color vision, and reduced visual acuity. Macular atrophy, macular pigmentation deposits, and drusen-like deposits in the macula have been observed. Age at onset varies widely, from the first to the sixth decades of live (Kobayashi et al., 2000; Huang et al., 2013; Zenteno et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of CORD, see CORD2 (120970). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CORD24, HRG4, IMD13, POC7, POC7A, UNC119
    Summary: unc-119 lipid binding chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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