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 CHST6 gene, as well as describe light and electron microscopicfeatures of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy inboth eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies includinglight and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornearevealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularlywithin 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 containingelectron-dense fibrillogranular material. These vacuoles were present in the endothelial cells andbetween stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygousmutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novelCHST6 mutation was detected in a Korean macular corneal dystrophy patient
Abstract
To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopicfeatures of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy inboth eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies includinglight and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornearevealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularlywithin 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 containingelectron-dense fibrillogranular material. These vacuoles were present in the endothelial cells andbetween stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygousmutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novelCHST6 mutation was detected in a Korean macular corneal dystrophy patient
참고문헌 (15)
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