Achromatopsia 2 (ACHM2)

Achromatopsia 2, also known as rod monochromatism 2, is related to achromatopsia 7 and pathologic nystagmus, and has symptoms including other specified visual disturbances, subjective visual disturbance, unspecified and visual disturbance. An important gene associated with Achromatopsia 2 is CNGA3 (Cyclic Nucleotide Gated Channel Subunit Alpha 3), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Nanog in Mammalian ESC Pluripotency. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and photophobia