منابع مشابه
Mutations 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 کاملSimultaneous 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 کامل3312 Macular corneal dystrophy in Iceland: A immunohistochemical and genealogical study of 28 cases
w The human wrnea is a densely innervated struchxe. However, data on nerve fiber (NF) distribution in tbe human cornea are scarce possibly due to fast post mortem degeneration. Therefore, moat descriptions on comeal innervation are based on studies in rats and rabbits. Tbe present study is focussed on the ulaastruaure of NF’s in the central and peripheral human cornea. Methods: Tissue samples o...
متن کاملMacular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
PURPOSE To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined b...
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...
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ژورنال
عنوان ژورنال: Eye
سال: 1989
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1989.66