Night Blindness, Congenital Stationary, Type 1b; Csnb1b

Clinical Features

Top most frequent phenotypes and symptoms related to Night Blindness, Congenital Stationary, Type 1b; Csnb1b

  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia
  • Confusion
  • Retinal degeneration
  • Visual field defect
  • Congenital blindness
  • Peripheral visual field loss

And another 2 symptoms. If you need more information about this disease we can help you.

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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 1b; Csnb1b Is also known as csnb, complete, autosomal recessive, night blindness, congenital stationary, 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 1b; Csnb1b 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 %
GRM6.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GRM6
Specificity
100 %
Genes
100 %
GRM6 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

GRM6
Specificity
100 %
Genes
100 %
Night blindness, congenital stationary 1B, AR (sequence analysis of GRM6 gene).

By CGC Genetics (Portugal).

GRM6
Specificity
100 %
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 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 %

You can get up to 21 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 Symptoms Checker

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