Sequence analysis of the CHST6 coding region revealed compound heterozygous mutations, c.892 C>T and c.1072T >C, co-segregated with the disease in the pedigree, which resulted in a missense mutation (p.Y358H) and an early stop codon (p.Q298X), respectively, and implied MCD as a recessive inherited disorder. The gene discussed is CHST6; the disease is macular corneal dystrophy.