Gene Therapy for Achromatopsia.

Abstract excerpt

Achromatopsia is the most common cone dysfunction syndrome, affecting 1 in 30,000 people. It is an autosomal recessive disorder with a heterogeneous genetic background with variants reported in CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6. Up to 90% of achromatopsia patients harbour mutations in CNGA3 or CNB3, which encode for the alpha and beta subunits of the cone cyclic nucleotide-gated (CNG) channel in...

Topics

• Color Vision Defects
• Humans
• Genetic Therapy
• Cyclic Nucleotide-Gated Cation Channels
• Mutation
• Animals
• Clinical Trials as Topic