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Achromatopsia is a chronically debilitating inherited eye disorder that severely limits a person's sight.
The company had earlier initiated a Phase I/II clinical trial of its gene therapy product for the treatment of achromatopsia caused by mutations in the CNGB3 gene.
Restoration of cone vision in a mouse model of achromatopsia.
The report provides a snapshot of the global therapeutic landscape of Achromatopsia
Achromatopsia is caused by a malfunction of the eye's "cone photoreceptors" located in the retina, the light sensitive layer at the back of the eye.
While achromatopsia is quite rare, Komaromy said it's a good model disease for other disorders affecting the photoreceptors, conditions that constitute a major cause of incurable blindness in dogs and humans.
Achromatopsia is an inherited condition that blights cone photo-receptor cells in the retina which enable people to see colour and light.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
She says: "Tyla amazes me every day with how well she copes but she desperately wants to meet other children with achromatopsia and we'd love for her to have someone to talk to about it who understands exactly what she's going through.
In a patient with bilateral lesions of the temporo-occipital cortex, with agnosia, alexia, achromatopsia and prosopagnosia, mental imagery was perfectly preserved for the same entities: object recognition, reading, colour and face processing (Bartolomeo, Bachoud-Levi, de Gelder, Denes, dalla Barba, Brugieres & Degos, 1998).
They were born with a form of Crone Dystrophy called Incomplete Achromatopsia.
Color perception profiles in central achromatopsia.
The other known mutation leading to achromatopsia, this form of color blindness, is on chromosome two.
Total congenital colorblindness, or achromatopsia, is a scary disease in that it not only forecloses all sense of color but also makes its victims painfully sensitive to light.
The inclusion of color-related stimuli is based on the common finding of color anomia (inability to name color hues) and achromatopsia (inability to discriminate hues) in alexic patients (Albert, Goodglass, Helm, Rubens, & Alexander, 1981).
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