Achromatopsia 2

Common Name(s)

Achromatopsia 2

Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by {7:Kohl et al., 1998}). Genetic Heterogeneity of Total Achromatopsia A form of achromatopsia previously designated achromatopsia-1 (ACHM1) was later found to the same as achromatopsia-3 (ACHM3; {262300}), caused by mutation in the CNGB3 gene ({605080}); ACHM4 ({613856}) is caused by mutation in the GNAT2 gene ({139340}); and ACHM5 ({613093}) is caused by mutation in the PDE6C gene ({600827}).
 

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Condition Specific Organizations

Following organizations serve the condition "Achromatopsia 2" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Achromatopsia 2" returned 2 free, full-text research articles on human participants. First 3 results:

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
 

Author(s): Kirti A Patel, Kristen M Bartoli, Richard A Fandino, Anita N Ngatchou, Gustaw Woch, Jannette Carey, Jacqueline C Tanaka

Journal: Invest. Ophthalmol. Vis. Sci.. 2005 Jul;46(7):2282-90.

 

Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of cone function, is caused by mutations in the alpha subunit of the cone cyclic nucleotide-gated (CNG) channel gene CNGA3. Examination of mutations that cluster in the first transmembrane segment of the ...

Last Updated: 27 Jun 2005

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Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
 

Author(s): N C Arbour, J Zlotogora, R G Knowlton, S Merin, A Rosenmann, A B Kanis, T Rokhlina, E M Stone, V C Sheffield

Journal: Hum. Mol. Genet.. 1997 May;6(5):689-94.

 

Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate ...

Last Updated: 21 Jul 1997

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Reviews from the PubMed Database

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The terms "Achromatopsia 2" returned 0 free, full-text review articles on human participants.

 
 
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