For the patients with the previously reported TSPAN12 mutations, clinical phenotypes include the following: retinal folds, temporal dragging of the optic disc and/or macula, traction of the posterior retinal vessels, increased vascular ramifications in the equatorial area, a peripheral retinal avascular zone, retinal pigmentary disturbances that mimic retinitis pigmentosa, exudates, and retinal detachments. This evidence concerns the gene TSPAN12 and retinitis pigmentosa.