Publications related to Cone dystrophy

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

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

PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum

Alessandro Borghesi

PUS3 encodes the pseudouridylate synthase 3, an enzyme catalyzing the formation of tRNA pseudouridine, which plays a critical role in tRNA structure, function, and stability. Biallelic pathogenic variants of PUS3 have been previously associated with severe ...

WILEY2022

MOCCA: Modeling and Optimizing Cone-joints for Complex Assemblies

Mark Pauly, Peng Song

We present a computational framework for modeling and optimizing complex assemblies using cone joints. Cone joints are integral joints that generalize traditional single-direction joints such as mortise and tenon joints to support a general cone of directi ...

2021

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

Virtual reality simulation of epiretinal stimulation highlights the relevance of the visual angle in prosthetic vision

Diego Ghezzi, Enrico Migliorini, Jacob Thomas Thorn

Objective. Retinal prostheses hold the potential to restore artificial vision in blind patients suffering from outer retinal dystrophies. The optimal number, density and coverage of the electrodes that a retinal prosthesis should have to provide adequate a ...

2020

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

Fully automated detection, segmentation, and analysis of in vivo RPE single cells

Christophe Moser, Timothé Laforest, Laura Emmanuelle Kowalczuk, Florentino Luciano Caetano Dos Santos

Objective To develop a fully automated method of retinal pigmented epithelium (RPE) cells detection, segmentation and analysis based on in vivo cellular resolution images obtained with the transscleral optical phase imaging method (TOPI). Methods Fourteen ...

NATURE PUBLISHING GROUP2021

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

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

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

CRX-linked macular dystrophy with intrafamilial variable expressivity

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, 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

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

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

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

Identifying mutations in Tunisian families with retinal dystrophy

Imen Habibi

Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subje ...

Nature Research2016

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