BACKGROUND Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration that exhibits a variety of neurologic manifestations. However, only a few reports have studied disturbances outside the central nervous system. We described 2 unrelated patients with DRPLA accompanied by corneal endothelial degeneration. PATIENTS AND METHODS A 52-year-old man presente...

Functional impairment of the human corneal endothelium can lead to corneal blindness. In order to meet the high demand for transplants with an appropriate human corneal endothelial cell density as a prerequisite for corneal function, several tissue engineering techniques have been developed to generate transplantable endothelial cell sheets. These approaches range from the use of natural membra...

Purpose. To elucidate the pattern of donor and recipient endothelial cell populations in transplanted human corneas and determine the degree to which donor endothelial cells survive in the graft. Methods. Thirty-six corneal grafts were collected from recipients of opposite sex to the donor, at the time of retransplantation for various indications. Cells from the endothelial side of the grafts w...

PURPOSE To investigate the effects of loss of osteopontin (OPN) in the development of neovascularization in corneal stroma in mice. Cell culture study was also conducted to clarify the effects of OPN in transforming growth factor (TGF) beta1-driven cell signaling and expression of vascular endothelial growth factor (VEGF). METHODS Ocular fibroblasts from wild-type and OPN-null mice were used ...

A 65-year-old man had diffuse, bilateral corneal oedema after acute intake of alcohol. Three days later the total opacification began to clear from the peripheral area towards the centre of the cornea. One month later both corneas were completely clear, and visual acuity was 20/20 in both eyes. Specular microscopy showed in the right eye greatly enlarged endothelial cells, which subsequently sh...

CASE REPORT A 42 year-old female diagnosed with essential iris atrophy complained of visual decrease in the right eye. Examination revealed moderate corneal oedema, folds in Descemet's membrane, polycoria, corectopia, and iris atrophy. Excimer laser assisted Descemet stripping endothelial keratoplasty was performed, with a good corneal transparency and a significant visual improvement being obt...

Specular microscopy is a very important diagnostic tool to evaluate corneal endothelial function through the evaluation of the morphology changes of this cell layer. Current technology allows the non-invasive, accurate observation and automatic morphological evaluation of this important corneal layer. It is well known that the endothelium changes with age1-3, contact lens wear4 and certain syst...

Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. Selective transmembrane water conductance controls cell size, renal fluid reabsorption and cell division. All known water-channellin...

PURPOSE Corneal endothelial cells are rich in mitochondria, a potential source of reactive oxygen species (ROS). ROS have been implicated in endothelial cell loss during aging or in endothelial dystrophies. In this study we examined the anti-oxidative role of mitochondrial superoxide dismutase (SOD2) in corneal endothelial cells. METHODS SOD2 expression was examined by RT-PCR and western blot...