Night Blindness, Congenital Stationary, Type 1c; Csnb1c

Clinical Features

Phenotypes and symptoms related to Night Blindness, Congenital Stationary, Type 1c; Csnb1c

  • Nystagmus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia
  • Dry skin
  • Eczema
  • Abnormal electroretinogram
  • Congenital stationary night blindness
  • Complete 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 1c; Csnb1c 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 1c; Csnb1c 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 %
TRPM1.

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

TRPM1
Specificity
100 %
Genes
100 %
TRPM1 mutation analysis.

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

TRPM1
Specificity
100 %
Genes
100 %
Night blindness, congenital stationar 1C, AR (sequence analysis of TRPM1 gene).

By CGC Genetics (Portugal).

TRPM1
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 %
Congenital stationary night blindness 1C, AR (deletion/duplication analysis of TRPM1 gene).

By CGC Genetics (Portugal).

TRPM1
Specificity
100 %
Genes
100 %
Congenital stationary night blindness 1C, AR (deletion/duplication analysis of TRPM1 gene).

By CGC Genetics (Portugal).

TRPM1
Specificity
100 %
Genes
100 %

You can get up to 24 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PREIMPLANTATION EMBRYONIC LETHALITY 1; PREMBL1 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 LICHTENSTEIN-KNORR SYNDROME; LIKNS PRIMROSE SYNDROME; PRIMS OPTIC ATROPHY 5; OPA5