Consistently, in the present study, many of the MCD cases were related to homozygous or compound heterozygous mutations in CHST6 (60.9%, 14/23), while heterozygous mutations including four missense mutations at positions 55, 133, 205, and 211 as well as two nonsense mutations at positions 165 and 254 were also observed. The gene discussed is CHST6; the disease is macular corneal dystrophy.