Cone-rod Dystrophy 2; Cord2
Description
Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998).
Clinical Features
Top most frequent phenotypes and symptoms related to Cone-rod Dystrophy 2; Cord2
- Blindness
- Visual loss
- Reduced visual acuity
- Photophobia
- Nyctalopia
- Retinal dystrophy
- Progressive visual loss
- Cone/cone-rod dystrophy
- Constriction of peripheral visual field
- Abnormality of color vision
And another 4 symptoms. If you need more information about this disease we can help you.
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 Dystrophy 2; Cord2 Is also known as cord, crd, retinal cone-rod dystrophy, crd2, cone-rod dystrophy, rcrd2, cone-rod retinal dystrophy.
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.Cone-rod Dystrophy 2; Cord2 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 % |
CRX Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRX
Specificity
100 %
Genes
50 % |
CRX Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRX
Specificity
100 %
Genes
50 % |
CRX Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
CRX
Specificity
100 %
Genes
50 % |
CRX Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
CRX
Specificity
100 %
Genes
50 % |
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
50 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
6 %
Genes
100 % |
Leber Congenital Amaurosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, CLUAP1, RD3, RDH12, SPATA7, CRB1, CRX, IQCB1, CEP290, IFT140, LCA5, AIPL1, DTHD1, GDF6, GUCY2D, IMPDH1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
50 % |
You can get up to 116 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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