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A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Publications associées (35)

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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

Sight restoration through retinal prostheses was still a mere dream a century ago. Current challenges are even greater: providing a quantitatively and qualitatively useful artificial vision to late blind patients. Existing approaches all face engineering a ...

EPFL2021

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The invention relates to oblique transscleral illumination of an eye fundus with at least one physical point light source around the eye allowing for dark field imaging combined with optical coherence tomography imaging. ...

2021

In vivo evaluation of gene editing and prosthetic strategies to restore vision in small and large animal models of retinal degeneration

Paola Vagni

Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...

EPFL2020

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An ophthalmic illumination and imaging system with transscleral / transpalpebral illumination of the eye fundus comprises a light-delivering device with a plurality of emitting areas; each of the emitting areas being configured to be independently controll ...

2020

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

Diego Ghezzi, Paola Vagni, Naïg Aurelia Ludmilla Chenais, 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

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

Imen Habibi

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

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Aims: Inherited Retinal Disorders represent a difficult target for gene therapy. This study exploits the possibility of using CRISPR/Cas9-based gene editing in photoreceptor progenitors to prevent cell death. We performed all the experiments on Rd10 mice, ...

2018