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Achromatopsia 1

Known as: Achromatopsia, Rod monochromacy, Rod monochromatism 
A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of… 
National Institutes of Health

Related topics

Related topics

6 relations
AchromatopsiaAchromatopsia 2Cone monochromatism

Broader (3)

CHROMATOPSIAColor blindnessColor vision defect

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
The CNGA3(-/-)/Nrl(-/-) mouse is a cone-dominant model with Cnga3 channel deficiency, which partially mimics the all cone foveal… 
2013
2013
Clinical utility gene card for: Achromatopsia - update 2013
Update to: European Journal of Human Genetics (2011) 19; doi:10.1038/ejhg.2010.231; published online 26 January 2011 
2012
2012
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia.
The absence of cyclic nucleotide-gated (CNG) channels in cone photoreceptor outer segments leads to achromatopsia, a severely… 
2008
2008
CNGA3 mutations in two United Arab Emirates families with achromatopsia
Purpose Achromatopsia results from mutations in one of three genes: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic… 
2005
2005
Clinical and genetic features of Hungarian achromatopsia patients.
PURPOSE To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients… 
2005
2005
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
PURPOSE Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of cone function, is caused by mutations… 
2002
2002
Clinical features of achromatopsia in Swedish patients with defined genotypes
Purpose: To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal… 
1994
1994
Eye and head movements in patients with achromatopsia
The diagnosis of patients with rod monochromatism (RM) and blue-cone monochromatism (BCM) may be difficult. The relative… 
1972
1972
Genetics of Congenital Colour Deficiencies
Genetically there is a fundamental difference between the types of red-green blindness (protanomaly, protanopia, deuteranomaly… 
1970
1970
Hereditary blindness among Pingelapese people of Eastern Caroline Islands.
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