Conclusions: Clinical manifestations of achromatopsia include total colour blindness, low visual acuity (mean of 20/400), horizontal pendular or rotatory nystagmus, and photophobia. Most patients have ...

Achromatopsia is a rare a form of color blindness in which people can't see any colors — they only see shades of gray. Parents or teachers may suspect color blindness if a child seems to have trouble ...

The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. This is the first study that aims to treat Achromatopsia disease by gene therapy. The study ...

Normal vision, protanopia, tritanopia, deuteranopia, achromatopsia. Vector set of icons or symbols of eyes with color blindness or colorblindness isolated on a white background. Normal vision, ...

Overall, our data identify loss-of-function ATF6 disease alleles that cause human foveal disease. Scientific Abstract: Achromatopsia (ACHM) is an autosomal recessive disease that results in severe ...

Achromatopsia is caused by defects in genes that control cone cells, our eyes' color-sensors. The approximately 1 in 30,000 ...

He was born with achromatopsia, or complete color-blindness, but now has the ability to perceive colour through an antenna-like sensor implanted into his skull. The antenna allows him to ...

GREENVILLE, NORTH CAROLINA: Chandler Hallow, a rising star on YouTube, has cemented his position as a prominent figure through his recurring collaborations with the renowned MrBeast channel.

Their ancestors have a high incidence of the autosomal recessive disorder achromatopsia, or total colorblindness, and genetic analysis of the Pingelapese has revealed the mutation responsible.

The patient showed a classical ventral occipito-temporal syndrome with achromatopsia, prosopagnosia, and associative visual agnosia. Of particular significance was the presence of pure alexia.