A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

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To report a novel mutation within the CHST 6 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 .Arg 205 T rp ]) was identified within the whole coding region of CHST 6 . A novel CHST 6 mutation was detected in a Korean macular corneal dystrophy patient .