Question: is achromatopsia a genetic mutation?
Answer: Achromatopsia results from changes in one of several genes: CNGA3, CNGB3, GNAT2, PDE6C, or PDE6H. A particular CNGB3 gene mutation underlies the condition in Pingelapese islanders. Achromatopsia is a disorder of the retina, which is the light-sensitive tissue at the back of the eye.