CNGA1 encodes the pore-forming alpha subunit of the rod cyclic nucleotide-gated (CNG) channel, a ligand-gated cation channel essential for phototransduction 1. In darkness, elevated cGMP levels maintain channel opening, allowing steady inward Na+ and Ca2+ currents that depolarize the rod photoreceptor membrane and promote neurotransmitter release. Upon light exposure, cGMP levels decline, closing the channel and hyperpolarizing the membrane to signal light detection 2. The channel exhibits cGMP- and cAMP-dependent gating with selective permeability for monovalent and divalent cations, including voltage-dependent Ca2+ blockade mediated by specific selectivity filter residues 2. Autosomal recessive CNGA1 mutations cause retinitis pigmentosa (RP), accounting for 2-8% of autosomal recessive RP cases 3. Pathogenic variants disrupt phototransduction, leading to progressive rod photoreceptor degeneration and vision loss 4. CNGA1 mutations have been identified across diverse populations, including Chinese and Indian cohorts, with variants affecting critical cGMP-binding domains 564. Gene augmentation therapy using AAV8-delivered CNGA1 successfully restores retinal function and preserves photoreceptors in animal models, demonstrating therapeutic potential 3.