Night Blindness, Congenital Stationary, Type 1C

Alternative Names

  • CSNB1C
  • CSNB, Complete, Autosomal Recessive
Back to search Result
WHO-ICD-10 version:2010

Diseases of the eye and adnexa

OMIM Number

613216

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q13.3

Description

Congenital stationary night blindness (CSNB) is a group of non-progressive retinal disorders characterized by an abnormal dark-adaptation curve, poor visual acuity, nystagmus, myopia (ranging from low to high), strabismus, and fundus abnormalities.  There are two forms of CSNB, complete (CSNB1) and incomplete (CSNB2), according to the degree of rod function, measured by dark adaptometry or electroretinogram (ERG).  The b-wave responses in patients with CSNB1C are severely deficient, but the a-waves are normal.

CSNB can be inherited as X linked recessive, autosomal recessive, or autosomal dominant patterns. CSNB1C is inherited as an autosomal recessive trait and caused by mutations in the TRPM1 gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613216.1.1Saudi ArabiaMaleYesYes High myopia; Nystagmus; Optic disc hyp...NM_001252020.1:c.2394delHomozygousAutosomal, RecessiveAl Oreany et al. 2016
613216.1.2Saudi ArabiaMaleYesYes High myopia; Nystagmus; Optic disc h...NM_001252020.1:c.2394delHomozygousAutosomal, RecessiveAl Oreany et al. 2016 Twin brother of 6132...
613216.2United Arab EmiratesFemale Congenital stationary night blindnessNM_002420.6:c.2782C>T, NM_002420.6:c.2999G>AHeterozygousAutosomal, RecessiveKhan. 2020; Alsalamah et al. 2020
613216.3United Arab EmiratesMale Congenital stationary night blindnessNM_002420.6:c.245_250delinsGTGAAAGATHomozygousAutosomal, RecessiveKhan. 2020; Alsalamah et al. 2020
613216.G.1Saudi ArabiaUnknownYesYes Visual impairmentNM_001252020.1:c.1577T>AHomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...
© CAGS 2024. All rights reserved.