Advances in CNGA1-related autosomal recessive retinitis pigmentosa

The CNGA1 gene encodes the alpha subunits of the rod cyclic nucleotide-gated channel, which binds to intracellular cyclic guanosine monophosphate and constitutes the last step of converting light stimulation into an electrical signal in photoreceptor rod cells. The CNG channel plays an essential role in the signal transduction of the visual system. Biallelic variants in the CNGA1 gene are a cause of autosomal recessive retinitis pigmentosa. Its clinical manifestations include night blindness, progressive visual field constriction, and central vision loss in the advanced stage. The clinical features, pathogenesis, disease models, and treatment of CNGA1-associated retinitis pigmentosa are summarized in this review.