Publications related to Choroideremia

Related publications (10)

In Vivo Retinal Pigment Epithelium Imaging using Transscleral Optical Imaging in Healthy Eyes

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Mathieu Künzi, Rémy Jean Daniel Dornier

Objective: To image healthy retinal pigment epithelial (RPE) cells in vivo using Transscleral OPtical Imaging (TOPI) and to analyze statistics of RPE cell features as a function of age, axial length (AL), and eccentricity. Design: Single-center, explorator ...

ELSEVIER2022

Molecular profiling of stem cell-derived retinal pigment epithelial cell differentiation established for clinical translation

Gioele La Manno, Irina Khven, Alex Russell Lederer

Human embryonic stem cell-derived retinal pigment epithelial cells (hESC-RPE) are a promising cell source to treat age-related macular degeneration (AMD). Despite several ongoing clinical studies, a detailed mapping of transient cellular states during in v ...

CELL PRESS2022

Naturalistic spatiotemporal modulation of epiretinal stimulation increases the response persistence of retinal ganglion cell

Diego Ghezzi, Marta Jole Ildelfonsa Airaghi Leccardi, Naïg Aurelia Ludmilla Chenais

Objective. Retinal stimulation in blind patients evokes the sensation of discrete points of light called phosphenes, which allows them to perform visually guided tasks, such as orientation, navigation, object recognition, object manipulation and reading. H ...

2021

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Daniel Francis Schorderet

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with bial ...

2019

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis

Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...

Georg Thieme Verlag Kg2016

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

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

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

CMOS pixels for subretinal implantable prothesis

Mihai Adrian Ionescu, Philippe Renaud, Marco Mazza

This work reports on the design, fabrication, and characterization of CMOS pixels for subretinal implants, which seems to be an effective way to recover visual capabilities in some types of blindness. Two possible approaches are presented for CMOS pixel im ...

2005