CNGB3 mutation

Background. Achromatopsia (rod monochromatism, complete color blindness) is a rare inherited retinal dystrophy with a prevalence of 1/30000-50000. Characteristic clinical symptoms include color blindness, pendular nystagmus, photophobia, severely reduced visual acuity due to the absence or impairment of cone function. To date, six genes have been associated with achromatopsia: CNGB3, CNGA3, GNAT2, PDE6C, PDE6H and ATF6. Diagnosis is established based on clinical symptoms, family history and comprehensive ophthalmological evaluation.