Achromatopsia
Achromatopsia
About the Disease
Achromatopsia, also known as total color blindness, is related to achromatopsia 3 and achromatopsia 2, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Carbamide peroxide and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cortex, and related phenotypes are photophobia and pendular nystagmus
Common Targets
KCNV2 | CNGA3 | RHO | PDE6C | MFN2 | HMCN1 | OPN1SW | ATF6 | COL2A1 | PDE6H | VCAN | GNAT2 | CNGB3 | THRB | OPN1LW
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