Transforming growth factor-beta-induced protein (TGFBIp) is ubiquitously expressed in the extracellular matrix (ECM) of various tissues and cell lines. Progressive accumulation of mutant TGFBIp is directly involved in the pathogenesis of TGFBI-linked corneal dystrophy. Recent studies reported that mutant TGFBIp accumulates in cells; however, the trafficking of TGFBIp is poorly understood. There...

PURPOSE. The purpose of this study was to investigate the effects and molecular mechanisms of lithium on inhibition of TGFBIp expression as a potential therapy for TGFBI-linked corneal dystrophy. METHODS. Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients with granular corneal dystrophy type 2 (GCD2) with a homozygous mutation in TGFBI R124H. Lev...

The dystrophy is of the nodular or granular type (Duke-Elder, 1938; Francheschetti, Klein, Form.i, and Babel, 1951; Franceschetti, 1954). The cases would appear to fall into the classification of heredo-familial degenerations under the heading of parenchymatous degenerations-a dominant form of granular degeneration. The youngest patient reported by Francheschetti was 5 years old, but in the lat...

Bullous Keratopathy is the presence of corneal epithelial bullae, resulting from corneal endothelial disease. Bullous Keratopathy is caused by oedema of the cornea, resulting from failure of the corneal endothelium to maintain the normally dehydrated state of the cornea. Most frequently, it is due to Fuchs corneal endothelial dystrophy or corneal endothelial trauma. Fuchs dystrophy is a genetic...

Maeder and Datiis (1947) described a 40-year-old woman with small white curved filaments occupying a disc in the deepest layers of the corneal stroma. The peripheral 2 mm. of cornea remained unaffected. The corneae of this patient showed keratoconus, clinically manifest in the left eye with a forme fruste in the right. D'Ermo (1950) annotated a similar case in a 19-year-old girl who was also af...

The purpose of this paper is to report the first family from Great Britain with central crystalline corneal dystrophy and to discuss the pathogenesis of this condition, a welldocumented entity (Waardenburg, Franceschetti, and Klein, I96I), the genetical basis of which was first demonstrated in a family of eight by van Went and Wibaut (1924), and confirmed by Schnyder (1927, I929, 1939). The con...

AIMS To evaluate corneal electrolysis as a treatment for recurrent diffuse corneal opacities at the host-graft interface of the stroma or at the subepithelial region in two types of granular corneal dystrophy (GCD). METHODS Recurrence developed at the host-graft interface of the stroma after lamellar keratoplasty in a patient with Avellino corneal dystrophy (ACD). At surgery, the deep aspect ...

To present 2 cases with long-term relapse-free intervals only after limbo-keratoplasty but not after conventional penetrating keratoplasty in granular dystrophy.Retrospective review of the patient charts and photographs taken during long-term follow-up of 2 cases with granular dystrophy, in which 1 eye received penetrating keratoplasty and the fellow eye received penetrating limbo-keratoplasty....

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 ...

The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...