نتایج جستجو برای: corneal dystrophy
تعداد نتایج: 48915 فیلتر نتایج به سال:
BACKGROUND The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis. PURPOSE The purpo...
Dermochondral corneal dystrophy (of François) has been reported rarely in the literature. It consists of a triad of findings characterised by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities. We present two brothers who display previously unreported ocular find...
Thiel-Behnke corneal dystrophy, or honeycomb is an autosomal dominant disorder. Tissue engineering can be a novel approach to regenerate this dystrophy. In study, the geometry of dystrophy mimicked with 3D printing technology, and 40% PMMA, PMMA/(0.1, 0.5, 2, 10)% VAN scaffolds were fabricated geometry. As result biocompatibility test mesenchymal stem cells (MSCs), it said that on showed high v...
BACKGROUND Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bowman layer as a rare phenotypic appearance of ACD and a high intra-familial variability of phenoty...
PURPOSE To screen a cohort of corneal dystrophy patients from North India for mutations in the transforming growth factor beta induced (TGFBI) gene, to correlate genotypes to phenotypes, to describe structural implications of various mutations on protein function, and to discuss the implications for diagnosis. METHODS Eighty affected individuals from 61 unrelated families, who were diagnosed ...
We report a familial case of keratoconus with corneal granular dystrophy. The mother and first son have both keratoconus and corneal granular dystrophy and the second son has keratoconus alone. The keratoconus in this family is thought to be an autosomal dominant or an X-linked inheritance pattern. Granular dystrophy is an autosomal dominant inheritance. This familial case suggests that the gen...
Citation: Zhang W, Ogando DG, Kim ET, et al. Conditionally immortal Slc4a11 / mouse corneal endothelial cell line recapitulates disrupted glutaminolysis seen in Slc4a11 / mouse model. Invest Ophthalmol Vis Sci. 2017;58:3723–3731. DOI:10.1167/ iovs.17-21781 PURPOSE. To establish conditionally immortal mouse corneal endothelial cell lines with genetically matched Slc4a11þ/þ and Slc4a11 / mice as ...
Map-dot-fingerprint dystrophy cause painless blurred vision due to irregular astigmatism. Corneal topography may show asymmetry and irregularity and can resemble keratoconus. Two patients with map-dot dystrophy with unilateral blurring of vision are presented that were misdiagnosed as keratoconus due to asymmetric corneal topography. Medical treatment with hypertonic saline and lubrication in o...
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