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… (More)
National Institutes of Health

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2012
2012
Achromatopsia is a rare autosomal recessive disorder which shows color blindness, severely impaired visual acuity, and extreme… (More)
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2011
2011
PURPOSE To characterize the retinal changes in patients with achromatopsia using an ultrahigh-resolution (UHR) spectral-domain… (More)
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2009
2009
OBJECTIVE To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between… (More)
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Highly Cited
2007
Highly Cited
2007
Loss of cone function in the central retina is a pivotal event in the development of severe vision impairment for many prevalent… (More)
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Highly Cited
2006
Highly Cited
2006
PURPOSE To report a novel mouse model of achromatopsia with a cpfl3 mutation found in the ALS/LtJ strain. METHODS The effects… (More)
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Highly Cited
2005
Highly Cited
2005
Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low… (More)
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Highly Cited
2004
Highly Cited
2004
C omplete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an incidence of ,1 in 30 000, in which… (More)
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Highly Cited
2002
Highly Cited
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of… (More)
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Highly Cited
2002
Highly Cited
2002
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German… (More)
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Highly Cited
2000
Highly Cited
2000
Achromatopsia is an autosomal recessive disorder featuring total colour blindness, photophobia, reduced visual acuity and… (More)
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