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Concept

Rétinite pigmentaire

Publications associées (28)

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

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

Daniel Francis Schorderet

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

Discrete windows of feature integration

Michael Herzog, Adrien Christophe Doerig, Leila Drissi Daoudi - Kleinbauer

A car drives through the night. It is hard to estimate its color from single photoreceptor activity because photoreceptor activation is short and noisy. An efficient way to estimate the color is to average photoreceptor activities along the car’s motion tr ...

SAGE PUBLICATIONS LTD2019

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

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

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

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

Gioele La Manno, Marion Leleu

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

CRX-linked macular dystrophy with intrafamilial variable expressivity

Daniel Francis Schorderet

Background: We present a macular dystrophy of differing severity in a single kindred caused by a heterozygous nonsense mutation in CRX. ...

TAYLOR & FRANCIS INC2018

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

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

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

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