Publication

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Publications associées (30)

Single particle cryo‐EM of the complex between interphotoreceptor retinoid‐binding protein and a monoclonal antibody

Henning Paul-Julius Stahlberg, Andreas Engel

Interphotoreceptor retinoid‐binding protein (IRBP) is a highly expressed protein secreted by rod and cone photoreceptors that has major roles in photoreceptor homeostasis as well as retinoid and polyunsaturated fatty acid transport between the neural retin ...

2020

Virtual reality simulation of epiretinal stimulation highlights the relevance of the visual angle in prosthetic vision

Diego Ghezzi, Enrico Migliorini, Jacob Thomas Thorn

Objective. Retinal prostheses hold the potential to restore artificial vision in blind patients suffering from outer retinal dystrophies. The optimal number, density and coverage of the electrodes that a retinal prosthesis should have to provide adequate a ...

2020

Optical phase contrast imaging of human retinal cells by changing the tissue refractive index

Christophe Moser, Mathieu Künzi, Timothé Laforest, Laura Emmanuelle Kowalczuk

Purpose : Based on oblique partially coherent illumination of transparent samples, we developed a simple custom Optical Phase Imaging (OPI) microscope providing a label-free, semi-quantitative phase contrast imaging. The aim of this study was to explore th ...

ASSOC RESEARCH VISION OPHTHALMOLOGY INC2020

Development of a new visual prosthesis for preclinical studies on artificial vision

Marta Jole Ildelfonsa Airaghi Leccardi

The technological evolution in materials science and microengineering favored the production of advanced visual prostheses useful for fighting blindness and to improve patients quality of life. Visual prostheses aim at replacing lost visual functions by ar ...

EPFL2020

Metabolic rescue of muscle and muscle stem cells in muscle disease

Peiling Luan

Duchenne muscular dystrophy (DMD), caused by the mutation of dystrophin gene, is an X-linked disorder that affects 1 in 3500 males, leading to progressive muscle degeneration and eventually resulting in premature death. Increasing evidence indicates that D ...

EPFL2020

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

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

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

Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration

Naïg Aurelia Ludmilla Chenais, Diego Ghezzi, Paola Vagni, Tommaso Marchetti

Inherited retinal dystrophies (IRDs) are a large and heterogeneous group of degenerative diseases caused by mutations in various genes. Given the favorable anatomical and immunological characteristics of the eye, gene therapy holds great potential for thei ...

2019

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients

Imen Habibi

Background Retinitis pigmentosa (RP) affects 2.5 million people worldwide. Increased identification of causative gene defects and the increasing possibility of treatment necessitates better knowledge of phenotype-genotype correlations to help identify pati ...

2019

Single-cell transcriptional logic of cell-fate specification and axon guidance in early-born retinal neurons

Marion Leleu, Pierre Raymond Fabre, Gioele La Manno

Retinal ganglion cells (RGCs), cone photoreceptors (cones), horizontal cells and amacrine cells are the first classes of neurons produced in the retina. However, an important question is how this diversity of cell states is transcriptionally produced. Here ...

2019

Capacitive-like photovoltaic epiretinal stimulation enhances and narrows the network-mediated activity of retinal ganglion cells by recruiting the lateral inhibitory network

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

Photovoltaic retinal prostheses theoretically offer the possibility of a standalone high-resolution electrical stimulation of the retina. However, achieving focused epiretinal stimulation is particularly challenging, because of axonal activation and electr ...

2019