Cone-rod Synaptic Disorder, Congenital Nonprogressive; Crsd

Description

Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Cone-rod Synaptic Disorder, Congenital Nonprogressive; Crsd

  • Nystagmus
  • Strabismus
  • Visual impairment
  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia
  • Abnormality of color vision
  • Congenital nystagmus

And another 3 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

Cone-rod Synaptic Disorder, Congenital Nonprogressive; Crsd Is also known as night blindness, congenital stationary, type 2b, formerly, csnb2b, formerly, night blindness, congenital stationary, incomplete, autosomal recessive, formerly.

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.


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Cone-rod Synaptic Disorder, Congenital Nonprogressive; Crsd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %
CABP4 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CABP4
Specificity
100 %
Genes
100 %
CABP4 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CABP4
Specificity
100 %
Genes
100 %
CABP4 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CABP4
Specificity
100 %
Genes
100 %
CABP4 Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CABP4
Specificity
100 %
Genes
100 %
CABP4 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

CABP4
Specificity
100 %
Genes
100 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, LCA5, AIPL1, GUCY2D, IMPDH1, KCNJ13, LRAT, OTX2
Specificity
6 %
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 %

We have 46 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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