Macular corneal dystrophy and associated corneal thinning
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 کامل[Corneal macular dystrophy: clinical, histopathologic and ultrastructural features].
OBJECTIVE To assess the main clinical, genetic, histopathological and ultrastructural features of Mexican patients with macular corneal dystrophy, and to compare the results with those previously reported. METHOD We analyzed six cases where a histopathologic diagnosis of macular corneal dystrophy had been made between 1957 and 2004. RESULTS Clinically, all corneas showed focal grayish-white...
متن کاملMutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.
PURPOSE Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. METHODS Genomic DNA was extracted from leukocytes in the peripheral blood and the cod...
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 کاملAlterations in stromal glycoconjugates in macular corneal dystrophy.
Nine biotinylated lectins were used as histochemical probes to localize the carbohydrates residues of glycoconjugates in normal corneas and in corneas with macular and granular dystrophy. The lectin binding patterns of normal corneas and of corneas with granular dystrophy were indistinguishable from one another, but were distinctly different from those found in corneas with macular dystrophy. C...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Eye
سال: 2014
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2014.164