Cone-Rod Dystrophy 9

Alternative Names

  • CORD9
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

612775

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8p11.22

Description

Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina. In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found. [From OMIM] 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612775.G.1Saudi ArabiaUnknownNo Cone/cone-rod dystrophyNM_003816.3:c.1130+1G>AHomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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