Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, and Peripheral visual field loss and others. 7 total HPO annotations.

CNGA1 encodes cyclic nucleotide gated channel subunit alpha 1 (686 aa). Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. Highest expression in Liver (5.0 TPM) and Skin Not Sun Exposed Suprapubic (4.4 TPM).

Retinitis pigmentosa 49 is associated with mutations in the CNGA1 gene on chromosome 4.

The CNGA1 protein participates in cGMP:CNG transports Na+ and Ca2+ into the rod outer segment pathway.

CNGA1 is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 5.8.

Genetic testing for CNGA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 49 has been reported in the published literature.

Phenotype severity distribution: 6 always present features.

No clinical trials have been registered for retinitis pigmentosa 49.

49 publications have been identified in PubMed for retinitis pigmentosa 49. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (24%), and Review / Meta-Analysis (14%).