Cone-Rod Dystrophy 19

Alternative Names

  • CORD19
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

615860

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q24.3

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... [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615860.1Saudi ArabiaMaleNoYes Visual impairmentNM_015072.4:c.1039T>CHomozygousAutosomal, RecessivePatel et al, 2018
615860.2United Arab EmiratesUnknown Retinal dystrophyNM_015072.5:c.(?_1282)_(2986_?)delHomozygousAutosomal, RecessiveMéjécase et al. 2020 Patient(s) from 'fam...
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