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A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
Korean Journal of Ophthalmology ; : 454-458, 2013.
Artículo en Inglés | WPRIM | ID: wpr-205012
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.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / ADN / Análisis Mutacional de ADN / Microscopía Electrónica / Sulfotransferasas / Distrofias Hereditarias de la Córnea / Reacción en Cadena de la Polimerasa / Mutación Missense / República de Corea / Queratocitos de la Córnea Tipo de estudio: Estudio pronóstico Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Korean Journal of Ophthalmology Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / ADN / Análisis Mutacional de ADN / Microscopía Electrónica / Sulfotransferasas / Distrofias Hereditarias de la Córnea / Reacción en Cadena de la Polimerasa / Mutación Missense / República de Corea / Queratocitos de la Córnea Tipo de estudio: Estudio pronóstico Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Korean Journal of Ophthalmology Año: 2013 Tipo del documento: Artículo