Achromatopsia 7; Achm7

Description

Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015).For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Achromatopsia 7; Achm7

  • Nystagmus
  • Blindness
  • Reduced visual acuity
  • Photophobia
  • Astigmatism
  • Macular atrophy
  • Central scotoma
  • Hypoplasia of the fovea
  • Dyschromatopsia
  • Achromatopsia

And another 1 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Achromatopsia 7; Achm7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
3 %
Genes
100 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNGA3, CNGB3, GNAT2, ATF6, PDE6C, PDE6H
Specificity
17 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Achromatopsia Panel.

By CeGaT GmbH (Germany).

CNGA3, CNGB3, GNAT2, ATF6, PDE6C, PDE6H
Specificity
17 %
Genes
100 %
Single gene testing ATF6.

By CeGaT GmbH (Germany).

ATF6
Specificity
100 %
Genes
100 %
Achromatopsia.

By Asper Biogene Asper Biogene LLC (Estonia).

CNGA3, CNGB3, GNAT2, ATF6, PDE6C, PDE6H
Specificity
17 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 265 more genes
Specificity
1 %
Genes
100 %
Cone Rod Dystrophy panel.

By Molecular Vision Laboratory (United States).

RPGR, CNNM4, SEMA4A, CFAP410, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX, C8orf37, POC1B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

You can get up to 6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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