Night Blindness, Congenital Stationary, Type 1h; Csnb1h

Description

Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016).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 1h; Csnb1h

  • Nystagmus
  • Myopia
  • Blindness
  • Photophobia
  • Nyctalopia
  • Hypermetropia
  • High myopia
  • Congenital stationary night blindness
  • Mild myopia

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.

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 1h; Csnb1h Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Obesity genetic testing.

By CGC Genetics (Portugal).

APOA5, INSIG2, FTO, GNB3, MC4R
Specificity
20 %
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 %
GNB3.

By Fulgent Genetics Fulgent Genetics (United States).

GNB3
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA (Portugal).

SCNN1A, SCNN1B, SLC12A3, CALCA, WNK1, STK39, CLCNKA, CLCNKB, ADD1, ADRA1A, ECE1, AGTR1, AGTR2, GNB3, GRK4, HSD11B2, NEDD4L, NOS2, NPPA, NR3C2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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