andras komaromy
TRANSCRIPT
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;