A novel proteotoxic stress-associated mechanism for macular corneal dystrophy
نویسندگان
چکیده
منابع مشابه
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملOutcomes of Penetrating Keratoplasty for Macular Corneal Dystrophy
PURPOSE To report the outcomes of penetrating keratoplasty (PKP) in patients with macular corneal dystrophy (MCD). METHODS This retrospective case series includes consecutive patients with MCD who underwent PKP from 1986 to 2006 with at least 6 months' follow-up. Main outcome measures included best spectacle-corrected visual acuity (BSCVA), postoperative astigmatism and graft survival. RESU...
متن کاملA Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene
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 o...
متن کاملMacular corneal dystrophy in a Chinese family related with novel mutations of CHST6
PURPOSE To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. METHODS A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultrathin sections from the other half button were examined with special stains un...
متن کاملA Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers.
PURPOSE To locate and identify variants associated with macular corneal dystrophy (MCD) in Labrador Retriever (LR) dogs, in the candidate gene carbohydrate sulfotransferase-6 (CHST6). METHODS The single coding exon of canine CHST6 was sequenced in one affected LR with MCD and one control LR clinically clear of ocular disease. A further 71 control LR with unknown clinical status were sequenced...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2014
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2014.s010.x