To date, phenotypic features of RCBTB1-associated retinopathy have been reported in fifteen cases from eleven families, among which eleven cases from nine unrelated families presented with progressive late-onset macular chorioretinal atrophy and peripheral retinal abnormalities in their 40s or 50s [2,3,5], while four cases manifested a typical retinitis pigmentosa phenotype in their 20s [2,4]. Here, RCBTB1 is linked to retinitis pigmentosa.