PURPOSE To describe a case of keratoconus and Fuchs' corneal endothelial dystrophy in the left eye with no corneal disease in the right eye. METHODS A 64-year-old woman presented with visual impairment in her left eye; computer-assisted topographic analysis and specular microscopy were performed in both eyes and left cornea was histopathologically examined. RESULTS Keratoconus was diagnosed...

PURPOSE To investigate the clinical and genetic features of Korean patients with corneal dystrophies associated with mutations in the human transforming growth factor-β-induced (TGFBI) gene. METHODS In this study, 387 subjects (71 families and 89 individuals - 268 patients having TGFBI corneal dystrophies and 119 normal relatives) were assessed. All subjects underwent a complete ophthalmologi...

PURPOSE To describe a case of severe corneal granular dystrophy with clinicopathologic and molecular genetic findings. METHODS The DNAs of a 53-year-old male patient suffering from corneal granular dystrophy and nonaffected family members were analyzed by molecular genetic methods. Clinical features, and histopathologic and immunohistochemical findings from the penetrating keratoplasty specim...

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...