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

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Related publications (28)

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

Marion Leleu, Gioele La Manno, Pierre Raymond Fabre

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

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

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

Diego Ghezzi, Naïg Aurelia Ludmilla Chenais, 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

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

Impact of MCT1 Haploinsufficiency on the Mouse Retina

Pierre Magistretti, Sylvain Eric Lengacher, 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

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

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

2019

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

Wiley2017

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

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

2019

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

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

Spie-Int Soc Optical Engineering2016