Article
Achromatopsia as a potential candidate for gene therapy.
Advances in experimental medicine and biology - 1 Jan 2010
Pang Ji-Jing, Alexander John, Lei Bo, Deng Wentao, Zhang Keqing, Li Qiuhong, Chang Bo, Hauswirth William W
Abstract excerpt
Achromatopsia is an autosomal recessive retinal disease involving loss of cone function that afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have visual acuities lower than 20/200 because of the central vision loss, photophobia, complete color blindness and reduced cone-mediated electroretinographic (ERG) amplitudes. Mutations in three genes have been found to be the primary...
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