Features include always present findings: Undetectable electroretinogram, Constriction of peripheral visual field, Reduced visual acuity, and Rod-cone dystrophy; and common findings: Retinal dots.

CC2D2A encodes coiled-coil and C2 domain containing 2A (1,620 aa). Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Highest expression in Artery Tibial (16.4 TPM) and Colon Sigmoid (15.6 TPM).

Retinitis pigmentosa 93 is associated with mutations in the CC2D2A gene on chromosome 4.

The CC2D2A protein participates in Anchoring of the basal body to the plasma membrane pathway.

CC2D2A is classified as a druggable target with score 0.0.

Genetic testing for CC2D2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 93 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 common feature.

No clinical trials have been registered for retinitis pigmentosa 93.

24 publications have been identified in PubMed for retinitis pigmentosa 93. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (29%), and Diagnostic / Biomarker (13%).