The present study elucidated a high proportion of autosomal dominant variants PROM1 p.R373C in Korean PROM1-associated retinal degeneration, in Korean cases of PROM1-associated retinal degeneration, along with a substantial degree of interfamilial and intrafamilial phenotypic variability in PROM1 p.R373C-associated retinal degeneration. This evidence concerns the gene PROM1 and retinal degeneration.