Publication

NR2E3 Mutations in Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), and Retinitis Pigmentosa (RP)

Publications associées (29)

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

The role of LRRK2 in lung adenocarcinoma

Aspasia Gkasti

Lung cancer is the leading cause of cancer-related deaths worldwide and the most common lung cancer subtype is lung adenocarcinoma (LUAD). Frequently mutated genes involve activating mutations in KRAS and loss of function mutations in TP53. LUADs primarily ...

EPFL2024

Clinically compliant cryopreservation of differentiated retinal pigment epithelial cells

Gioele La Manno, Alex Russell Lederer, Cheng Zhao

Background aims: Age-related macular degeneration (AMD) is the most common cause of blindness in elderly patients within developed countries, affecting more than 190 million worldwide. In AMD, the retinal pigment epithelial (RPE) cell layer progressively d ...

Elsevier Sci Ltd2024

Influence of macular pigment on the sensitivity to discomfort glare from daylight

Marilyne Andersen, Jan Wienold, Sneha Jain

Understanding the factors that influence the human perception of glare is necessary to properly address glare risks in buildings and achieve comfortable visual environments, especially in the workplace. Yet large inter-individual variabilities in glare per ...

Nature Research2023

The role of the NF-kappaB pathway in Amyotrophic lateral sclerosis pathogenesis

Emma Charlotta Källstig

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative motor disorder, which results in death within a few years of diagnosis. While the cause of most cases of ALS is unknown, 10% of cases are familial (fALS), and associated with mutations in one of ov ...

EPFL2023

Discomfort glare from daylight: Influence of transmitted color and the eye's macular pigment

Sneha Jain

Designing architectural façades that allow sufficient daylight to create visually comfortable and pleasant environments is a challenging aspect of building design. It requires accounting for visual comfort and discomfort glare risks and understanding the f ...

EPFL2023

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

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

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

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

Dylan Lawless

Zebrafish show an extraordinary potential for regeneration in several organs from fins to central nervous system. Most impressively, the outcome of an injury results in a near perfect regeneration and a full functional recovery. Indeed, among the various i ...

MDPI2022

POLYRETINA restores light responses in vivo in blind Gottingen minipigs

Diego Ghezzi, Marta Jole Ildelfonsa Airaghi Leccardi, Paola Vagni, Elodie Geneviève Zollinger, Golnaz Sherafatipour, Charles-Henri Puncho Jérôme Vila

Retinal prostheses hold potential for artificial vision in blind people. Here, authors show that POLYRETINA, a large and high-density photovoltaic epiretinal device, restores light-evoked cortical responses in blind Gottingen minipigs at safe irradiance le ...

Nature Portfolio2022

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

Gioele La Manno, Alex Russell Lederer, Irina Khven

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