To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy in both eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies including light and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornea revealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularly within the stroma. All samples stained positively with alcian blue, colloidal iron, and periodic acid-Schiff. Electron microscopy showed keratocytes distended by membrane-bound intracytoplasmic vacuoles containing electron-dense fibrillogranular material. These vacuoles were present in the endothelial cells and between stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygous mutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novel CHST6 mutation was detected in a Korean macular corneal dystrophy patient.
Corneal Dystrophies, Hereditary/diagnosis/*genetics/metabolism ; Corneal Keratocytes/ultrastructure ; DNA/*genetics ; DNA Mutational Analysis ; Female ; Humans ; Microscopy, Electron ; Middle Aged ; *Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Republic of Korea ; Sulfotransferases/*genetics/metabolism

An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction, showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-beta-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.
Aged, 80 and over ; Corneal Dystrophies, Hereditary/diagnosis/*genetics/metabolism ; DNA/*genetics ; DNA Mutational Analysis ; Extracellular Matrix Proteins/*genetics/metabolism ; Female ; Humans ; *Mutation ; Pedigree ; Polymerase Chain Reaction ; Transforming Growth Factor beta/*genetics/metabolism

An 87-year-old woman visited our clinic for a scheduled cataract surgery. At the time of preoperative evaluation, slit lamp examination showed lattice-shaped and granular deposits with asymmetrical patterns in the stroma of both corneas. Genomic DNA samples of the patient, amplified by polymerase chain reaction, showed a single nucleotide substitution, c. 1580T>G (p.L527R), in the transforming growth factor-beta-induced TGFBI gene. We also found two additional SNP mutations, c.1620T>C (p.F540F) and c.1678+23G>A, along with the well-known L527R mutation. This is the first report of lattice corneal dystrophy type IV with an L527R mutation outside of Japan, and could challenge the idea that L527R is caused by a mutation from a single Japanese ancestor.
Aged, 80 and over ; Corneal Dystrophies, Hereditary/diagnosis/*genetics/metabolism ; DNA/*genetics ; DNA Mutational Analysis ; Extracellular Matrix Proteins/*genetics/metabolism ; Female ; Humans ; *Mutation ; Pedigree ; Polymerase Chain Reaction ; Transforming Growth Factor beta/*genetics/metabolism