Cone-Rod Dystrophy 3

Alternative Names

  • CORD3
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

604116

Gene Map Locus

1p22.1

Description

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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604116.G.1SyriaUnknownYesNo Visual impairment; Cone/cone-rod dystro... NM_000350.3:c.3610G>AHomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...
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