Concept

Cone dystrophy

Publications associées (55)

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 ...

WILEY2021

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 ...

ASSOC COMPUTING MACHINERY2021

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 ...

2020

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 GROUP2020

Grounding Resistance of a Hemispheric Electrode Located on the Top of a Finite-Height, Cone-Shaped Mountain

Marcos Rubinstein, Antonio Sunjerga, Farhad Rachidi-Haeri, Hamidreza Karami

In this letter, we present an analytical solution for the resistance of a hemispheric grounding electrode located on the top of a mountain. The mountain is modeled as a truncated cone with a finite height. Recently, a closed-form solution for the grounding ...

2020

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

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