Night Blindness, Congenital Stationary, Type 1d; Csnb1d

Description

CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (OMIM ).

Clinical Features

Phenotypes and symptoms related to Night Blindness, Congenital Stationary, Type 1d; Csnb1d

  • Nystagmus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia
  • Retinal degeneration
  • Macular atrophy
  • Congenital stationary night blindness

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Night Blindness, Congenital Stationary, Type 1d; Csnb1d Is also known as csnb, complete, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Night Blindness, Congenital Stationary, Type 1d; Csnb1d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
7 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics (Portugal).

RHO, GRK1, SAG, SLC24A1, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B
Specificity
8 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics (Portugal).

RHO, GRK1, SAG, SLC24A1, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B
Specificity
8 %
Genes
100 %
Congenital Stationary Night Blindness and Retinal Degeneration via SLC24A1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC24A1
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RHO, GRK1, RPE65, SAG, SLC24A1, CABP4, CACNA1F, CHM, CACNA2D4, LRIT3, GPR179, GNAT1, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
6 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Optic Atrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC24A1, SPG7, ACO2, TIMM8A, WFS1, MFN2, CISD2, TMEM126A, MTPAP, C12orf65, NDUFS1, NR2F1, OPA1, OPA3, AUH, POLG
Specificity
7 %
Genes
100 %

You can get up to 15 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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