نتایج جستجو برای: macular corneal dystrophy mcd
تعداد نتایج: 72508 فیلتر نتایج به سال:
PURPOSE To report the microstructural features of Meesmann corneal dystrophy (MCD) in two patients. CASE REPORT The first patient was a 10-year-old boy who presented with bilateral visual loss, diffuse corneal epithelial microcystic changes, high myopia and amblyopia. With a clinical impression of MCD, automated lamellar therapeutic keratoplasty was performed in his left eye. Histopathologic ...
PURPOSE To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects from 12 families with macular corneal dystrophy (MCD). METHODS Genomic DNA was extracted from peripheral blood of 20 affected patients and 60 healthy volunteers followed by polymerase chain reaction (PCR) and direct sequencing of the CHST6 coding region. The observed nucleotide sequen...
Macular corneal dystrophy (MCD) is an autosomal recessive disorder mainly caused by gene mutations of carbohydrate sulfotransferase (CHST6) leading to bilateral visual impairment. Because the mechanism underlying this degeneration remains poorly understood, we investigated molecular alterations and pathways that may be involved in MCD in this issue. Different mutation sites were screened by dir...
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...
purpose: to report the clinico-pathological and ultrastructural features of a case of meesmann corneal dystrophy (mcd). case report: a 10-year-old boy presented with decreased vision in both eyes since early childhood. slitlamp biomicroscopy disclosed diffuse intraepithelial microcystic changes in the cornea but other layers appeared unremarkable. high pathologic myopia and amblyopia were other...
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...
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...
purpose: to report the histopathological diagnoses of recipient corneal buttons in patients undergoing penetrating keratoplasty. methods: in this observational case series, all recipient corneal specimens sent to the ophthalmic pathology laboratory of the eye bank of iran between 2004 and 2007 underwent histopathologic examination. results: overall, 315 corneal specimens were evaluated. histopa...
Macular corneal dystrophy is an inherited corneal disease characterized by corneal opacities resulting from intra- and extracellular deposits within the corneal stroma. Several monoclonal antibodies developed against antigens of corneal fibroblasts were screened for their reactivity with these abnormal deposits in corneas with macular dystrophy using an indirect peroxidase-conjugated immunostai...
Macular corneal dystrophy is a human genetic disorder characterized by corneal opacities that arise, in part, from a failure to synthesize mature keratan sulfate proteoglycans. The macromolecules in macular corneas and in keratoconus corneas, an abnormality not involving proteoglycans, were biosynthetically labeled with [3H]mannose and [14C]glucosamine in organ culture, and the keratan sulfate ...
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