Concept

Choroideremia

Related publications (22)

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family fro ...

Georg Thieme Verlag Kg2014

A polymer-based interface restores light sensitivity in blind rats

Diego Ghezzi

Progressive degeneration of photoreceptors is one of the major causes of adult blindness in “industrialized” countries; as an example, Retinitis pigmentosa defines a set of monogenic hereditary retinal diseases, with a prevalence of 1:4000 worldwide, cause ...

2014

Arginine-Based Biodegradable Ether–Ester Polymers with Low Cytotoxicity as Potential Gene Carriers

Lucia Baldi Unser, Jutta Christine Wandrey, Sagar Shashidhar Manoli, Nino Zavradashvili, Tamar Memanishvili

The success of gene therapy depends on safe and effective gene carriers. Despite being widely used, synthetic vectors based on poly(ethylenimine) (PEI), poly(l-lysine) (PLL), or poly(l-arginine) (poly-Arg) are not yet fully satisfactory. Thus, both improve ...

Amer Chemical Soc2014

Long-term in vivo impedance changes of subretinal microelectrodes implanted in dystrophic P23H rats

Philippe Renaud, Olof Pontus Linderholm

Retinal prostheses are being developed to restore vision in blind patients with photoreceptor degeneration. Electrodes arrays were subretinally implanted in transgenic P23H rats with their photoreceptors degenerated. Electrical stability of the implants wa ...

Wichtig Editore2013

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Tatiana Favez, Alexandra Iouranova, Pascal Escher

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted ex ...

Hindawi Publishing Corporation2013

Simulations to study spatial extent of stimulation and effect of electrode–tissue gap in subretinal implants

Philippe Renaud, Arnaud Bertsch, Sri Harsha Kasi Raj

We present a finite element based simulation and analysis method to describe the spatial extent of stimulation and the effects of electrode–tissue interactions in subretinal prostheses. In particular, we estimate the threshold stimulation current needed to ...

Elsevier2011

RBP-Jκ-dependent Notch signaling enhances retinal pigment epithelial cell proliferation in transgenic mice

Freddy Radtke, Friedrich Beermann, Iraz Toprak Aydin

The Notch signaling pathway is an ubiquitous cell-cell interaction mechanism, which is essential in controlling processes like cell proliferation, cell fate decision, differentiation or stem cell maintenance. Recent data have shown that Notch signaling is ...

Nature Publishing Group2011

Sutureless ocular surface reconstruction

Basile Salmon

Corneal diseases account for eight million blind people worldwide, making up to 10% of all causes of blindness. As 80% of the information is collected by our senses, blindness is a very invalidating condition which lowers greatly patients’ quality of life. ...

2010

MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells

The retinal pigment epithelium (RPE) is constantly exposed to external injuries which lead to degeneration, dysfunction or loss of RPE cells. The balance between RPE cells death and proliferation may be responsible for several diseases of the underlying re ...

2008

Subretinal electrode implantation in the P23H rat for chronic stimulations

Philippe Renaud, Olof Pontus Linderholm

Background: In age related macular degeneration and inherited dystrophies, preservation of retinal ganglion cells has been demonstrated. This finding has led to the development of various models of subretinal or epiretinal implant in order to restore visio ...

2006

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