Cone-Rod Dystrophy 2

Alternative Names

  • CORD2
  • Cone-Rod Dystrophy
  • CORD
  • Cone-Rod Retinal Dystrophy
  • CRD
  • CRD2
  • Retinal Cone-Rod Dystrophy
  • RCRD2
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

120970

Gene Map Locus

19q13.33

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 ({10:Moore, 1992}). 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
120970.1.1United Arab EmiratesMaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019
120970.1.2United Arab EmiratesFemaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Daughter of 120970.1...
120970.1.3United Arab EmiratesFemaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Daughter of 120970.1...
120970.1.4United Arab EmiratesFemaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Sibling of 120970.1....
120970.1.5United Arab EmiratesMaleYesNo Peripapillary atrophy; Abnormality of ma... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Sibling of 120970.1....
120970.1.6United Arab EmiratesFemaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Sibling of 120970.1....
120970.1.7United Arab EmiratesFemaleYesNo Reduced visual acuity; Peripapillary atr... NM_000554.4:c.(100+1_101-1)_(c.900+1_?)delHeterozygousAutosomal, DominantKhan et al. 2019 Daughter of 120970.1...
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