Concept

Retinitis pigmentosa

Related publications (116)

Characterization of a Polymer-Based, Fully Organic Prosthesis for Implantation into the Subretinal Space of the Rat

Replacement strategies arise as promising approaches in case of inherited retinal dystrophies leading to blindness. A fully organic retinal prosthesis made of conjugated polymers layered onto a silk fibroin substrate is engineered. First, the biophysical a ...

Wiley-VCH Verlag2016

Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full-field electroretinography, electrooculogram and multifocal electroretinography

PurposeTo determine a relationship between the retinal vessel saturation alterations and the residual retinal function measured by means of full-field electroretinography (full-field ERG), electrooculogram (EOG) and multifocal electroretinography (mfERG) i ...

Wiley-Blackwell2016

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

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

Unified framework to evaluate non-visual spectral effectiveness of light for human health

Marilyne Andersen, María Lovísa Ámundadóttir, Steven W. Lockley

The discovery of a novel non-rod, non-cone photoreceptor in the mammalian eye that mediates a range of ‘non-visual’ responses to light has required reexamination of how lighting needs for human health are characterized and evaluated. Existing literature pr ...

SAGE Publications2016

Retina Color-Opponency Based Pursuit Implemented Through Spiking Neural Networks in the Neurorobotics Platform

Marc-Oliver Gewaltig, Egidio Falotico, Lorenzo Vannucci, Paul Levi, Georg Hinkel, Stefan Ulbrich, Alessandro Ambrosano, Ugo Albanese, Murat Kirtay

The 'red-green' pathway of the retina is classically recognized as one of the retinal mechanisms allowing humans to gather color information from light, by combining information from L-cones and M-cones in an opponent way. The precise retinal circuitry tha ...

Springer Int Publishing Ag2016

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

Elucidating the role of Hmx1 during mouse development

Linda Bapst

This thesis focuses on the study of H6 homeobox 1 (HMX1) gene, a homeobox-containing transcription factor involved in sensory organ and eye development and responsible for the oculo-auricular syndrome of Schorderet-Munier-Franceschetti. The purpose of my s ...

EPFL2015

Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain

Nicolas Jean Philippe Guex, Pascal Escher

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (L ...

Wiley-Blackwell2015

Coating nanocarriers with hyaluronic acid facilitates intravitreal drug delivery for retinal gene therapy

Hendrik Georges Deschout

Retinal gene therapy could potentially affect the lives of millions of people suffering from blinding disorders. Yet, one of the major hurdles remains the delivery of therapeutic nucleic acids to the retinal target cells. Due to the different barriers that ...

Elsevier2015

Graph Chatbot

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.