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Andras Komaromy

Date post: 15-Nov-2014
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Gene Therapy for Achromatopsia – the Canine Models András M. Komáromy Many Species. One Many Species. One Medicine. ™ Medicine. ™
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Gene Therapy for Achromatopsia the Canine ModelsAndrs M. KomromyMany Species. One Medicine.

Achromatopsia No cone photoreceptor function Rod monochromacy Clinical signs:

Total color blindness Day-blindness Photophobia Low visual acuity Nystagmus

webvision

Retina

Webvision

Retina

Webvision

Achromatopsia in Man Autosomal recessive; 4 loci + 1 gene

ACHM1: HSA14 ACHM2: HSA2q11 (CNGA3; ~27%) ACHM3: HSA8q21-q22 (CNGB3; ~50%) ACHM4: HSA1p13.3 (GNAT2;


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