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 identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy ...

PURPOSE Mutations in the gene encoding the tissue inhibitor of metalloproteinases-3 (TIMP3) have been shown previously to cause Sorsby's fundus dystrophy, an autosomal-dominant disorder characterized by extracellular matrix irregularities in Bruch's membrane. To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mut...

BACKGROUND Vitelliform macular dystrophy is an autosomal-dominant disease and has two clinical variants: Best's (VMD2) and adult onset vitelliform macular dystrophy (AOVMD). We report an atypical presentation of VMD2. CASE A 50-year-old male presented with history of blurring of vision in left eye since two year. On fundus examination, left eye revealed a single, circular, yellow-opaque egg y...

Best's vitelliform macular dystrophy complicated with choroidal neovascularization is rare in children. We report three children from a Malay family of five siblings with Best's vitelliform macular dystrophy, in which two of them subsequently developed choroidal neovascularization. The possible pathogenesis of this rare condition is described and highlighted in this report.

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 ...