Night Blindness, Congenital Stationary, Type 1E

Alternative Names

  • CSNB1E
  • CSNB, Complete, Autosomal Recessive
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

OMIM Number

614565

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q12

Description

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities. [From Orphanet]

CSNB1E results from recessive mutations in the GPR179 gene. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614565.1.1LebanonMaleYesYes Congenital stationary night blindness; ...NM_001004334.3:c.1807C>THomozygousAutosomal, RecessiveAudo et al. 2012
614565.1.2LebanonFemaleYesYes Congenital stationary night blindnessNM_001004334.3:c.1807C>THomozygousAutosomal, RecessiveAudo et al. 2012 Sibling of 614565.1....
614565.1.3LebanonFemaleYesYes Congenital stationary night blindness; ...NM_001004334.3:c.1807C>THomozygousAutosomal, RecessiveAudo et al. 2012 Sibling of 614565.1....
614565.1.5LebanonMaleYes Electronegative electroretinogramNM_001004334.3:c.1807C>THeterozygousAutosomal, RecessiveAudo et al. 2012 Father of 614565.1.1
614565.2Saudi ArabiaUnknownNo Congenital stationary night blindnessNM_001004334.4:c.864G>AHomozygousAutosomal, RecessivePatel et al. 2016
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