title: A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.
abstract: 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.
authors: Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors: You Kyung
authors: YK
authors: Lee
authors: Dong-Jin
authors: DJ
authors: Chang
authors: Sung Kun
authors: SK
authors: Chung
mesh_terms: D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D060527:Corneal Keratocytes / Q000648:ultrastructure; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D056910:Republic of Korea; D015238:Sulfotransferases / Q000235:genetics* / Q000378:metabolism; D000097811:Carbohydrate Sulfotransferases
chemical_list: D004247:DNA; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases
keywords: Carbohydrate sulfotransferase; Corneal dystrophies, hereditary; Microscopy, electron; Microscopy, polarized; Mutation, missense