Out of these, 15.1% had mutations in genes associated with forms of albinism, 8.2% had mutations in genes associated with CSNB, and 8.2% had mutations in genes associated with achromatopsia as the most prevalent phenotypes, while 15.1% of the pathogenic variants were associated with early stages of macular dystrophies (ABCA4, BEST1, PRPH2, PROM1), and 8.2% were associated with rod–cone dystrophies (RPGR, RPB3, RP2, PDE6A). The gene discussed is POLR2C; the disease is achromatopsia.