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GTR Home > Conditions/Phenotypes > Cone-rod dystrophy and hearing loss 1

Cone-rod dystrophy and hearing loss 1

Summary

Cone-rod dystrophy and hearing loss-1 (CRDHL1) is characterized by relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders (Namburi et al., 2016). Genetic Heterogeneity of Cone-Rod Dystrophy and Hearing Loss CRDHL2 (618358) is caused by mutation in the CEP250 gene (609689) on chromosome 20q11. [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C9orf81, CRDHL, IP63, CEP78
    Summary: centrosomal protein 78

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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