A case of macular corneal dystrophy diagnosed by molecular genetic analysis

A 55-year-old woman presented with photophobia and foreign body sensation. Her corrected visual acuity was 0.5 right and 0.7 left. Both eyes showed numerous opaque patches simulating mutton-fat deposits. They were mainly located in the peripheral cornea. The corneal stroma showed diffuse opacity. The findings and clinical course were suggestive of corneal dystrophy rather than inflammatory or secondary degenerations. Analysis of CHST6 gene in her circulating blood showed homozygous mutation at codon 217 in the CHST6 gene, which is alanine-to-threonine substitution, A 217T. These molecular genetic findings led to the diagnosis of macular corneal dystrophy.