Publications related to The PROM1 Mutation p. R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod-Cone, and Macular Dystrophy

Neuroprotection in the Retina: From Preventing Inflammatory Cell Death to Promoting Vascular Stability in the Central Nervous System

Glaucoma is one of the leading causes of irreversible blindness worldwide. Glaucoma is defined clinically as the presence of optic nerve head (ONH) degeneration and progressive loss of retinal ganglion cells (RGCs). Intra-ocular pressure (IOP) has been con ...

EPFL2024

Photovoltaic stimulation of retinal microcircuit for vision restoration

Naïg Aurelia Ludmilla Chenais

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Imen Habibi

Purpose: To report multimodal imaging findings including optical coherence tomography angiography (OCT-A) of a patient presenting with a quiescent choroidal neovascularization (CNV) in one eye and an active CNV in the fellow eye, complicating retinitis pig ...

2021

Photovoltaic retinal prosthesis restores high-resolution responses to single-pixel stimulation in blind retinas

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

Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...

2021

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Paola Vagni

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

EPFL2020

Genetic spectrum of retinal dystrophies in Tunisia

Imen Habibi

We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype-phenotype correlations. A subset of 26 families from a cohort of 73 f ...

Nature Research2020

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

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

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

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

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

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

Design and validation of a foldable and photovoltaic wide-field epiretinal prosthesis

Kevin Sivula, Naïg Aurelia Ludmilla Chenais, Samuel Charles Antoine Gilliéron, Marta Jole Ildelfonsa Airaghi Leccardi, Diego Ghezzi, Michele Bevilacqua, Paola Vagni, Laura Ferlauto

Retinal prostheses have been developed to fight blindness in people affected by outer retinal layer dystrophies. To date, few hundred patients have received a retinal implant. Inspired by intraocular lenses, we have designed a foldable and photovoltaic wid ...

Nature Research2018

Impact of MCT1 Haploinsufficiency on the Mouse Retina

Sylvain Eric Lengacher, Pierre Magistretti, Luc Pellerin

The monocarboxylate transporter 1 (MCT1) is highly expressed in the outer retina, suggesting that it plays a critical role in photoreceptors. We examined MCT1+/- heterozygotes, which express half of the normal complement of MCT1. The MCT1(+/-) retina devel ...

SPRINGER INTERNATIONAL PUBLISHING AG2018

Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness

PurposeTo evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystr ...

Wiley2017

Image reproduction with compensation of luminance adaptation

Mahmut Sami Arpa

We introduce an image reproduction model that retargets colors for printing purposes to ensure similar luminance perception under photopic and scotopic vision. Our model is based on the physiological functioning of the rod and cone cells in the retina in v ...

Springer London Ltd2017

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...

Oxford University Press2016

Overcoming the resolution limit in retinal imaging using the scattering properties of the sclera

Demetri Psaltis, Christophe Moser, Dino Carpentras, Timothé Laforest

In-vivo imaging of the eye's fundus is widely used to study eye's health. State of the art Adaptive Optics devices can resolve features up to a lateral resolution of 1.5 um. This resolution is still above what is needed to observe subcellular structures su ...

Spie-Int Soc Optical Engineering2016