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Concept

Leber congenital amaurosis

Related publications (22)

Development of Visual Memory Capacity Following Early-Onset and Extended Blindness

Lukas Vogelsang

It is unknown whether visual memory capacity can develop if onset of pattern vision is delayed for several years following birth. We had an opportunity to address this question through our work with an unusual population of 12 congenitally blind individual ...

2022

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

Daniel Francis Schorderet

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

Genetic spectrum of retinal dystrophies in Tunisia

Daniel Francis Schorderet

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

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

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

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

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

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family fro ...

Georg Thieme Verlag Kg2014

Derivation of Traceable and Transplantable Photoreceptors from Mouse Embryonic Stem Cells

Freddy Radtke, Ute Koch

Retinal degenerative diseases resulting in the loss of photoreceptors are one of the major causes of blindness. Photoreceptor replacement therapy is a promising treatment because the transplantation of retina-derived photoreceptors can be applied now to di ...

Cell Press2014

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZNF469 s ...

Oxford University Press2014

Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/chondroitin sulfate proteoglycan 5

Purpose: To analyze in vivo the function of chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C (gene symbol: Cspg5) during retinal degeneration in the Rpe65(-/-) mouse model of Leber congenital amaurosis. ...

Molecular Vision2013

ERK1/2 pathway is activated in degenerated Rpe65-deficient mice

The MAPK family is composed of three majors kinases, JNK, p38 and ERK1/2, and is implicated in many degenerative processes, including retinal cell death. The purpose of our study was to evaluate the activation of ERK1/2 kinase, and its potential role in Mu ...

Academic Press Ltd- Elsevier Science Ltd2013

Analysis of the Cytoprotective Role of alpha-Crystallins in Cell Survival and Implication of the alpha A-Crystallin C-Terminal Extension Domain in Preventing Bax-Induced Apoptosis

alpha-Crystallins, initially described as the major structural proteins of the lens, belong to the small heat shock protein family. Apart from their function as chaperones, alpha-crystallins are involved in the regulation of intracellular apoptotic signals ...

Public Library of Science2013

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

Purpose: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss ...

Molecular Vision2013

Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes

RPE65-related Leber's congenital amaurosis (LCA) is a rod-cone dystrophy whose clinical outcome is mainly attributed to the loss of rod photoreceptors followed by cone degeneration. Pathogenesis in Rpe65-/- mice is characterized by a slow and progressive d ...

2012

Altered Expression of the Transcription Factor Mef2c during Retinal Degeneration in Rpe65(-/-) Mice

PURPOSE. To investigate the role of the myocyte enhancer factor 2 (Mef2) transcription factor family in retinal diseases, Mef2c expression was assessed during retinal degeneration in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA). Mef2c-d ...

2011

Altered expression of beta-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knockout mouse model of Leber's congenital amaurosis

Purpose: In this study, we investigated the expression of the gene encoding beta-galactosidase (Glb)-1-like protein 3 (Glb1l3), a member of the glycosyl hydrolase 35 family, during retinal degeneration in the retinal pigment epithelium (RPE)-specific 65-kD ...

2011

RBP-Jκ-dependent Notch signaling enhances retinal pigment epithelial cell proliferation in transgenic mice

Freddy Radtke, Friedrich Beermann, Iraz Toprak Aydin

The Notch signaling pathway is an ubiquitous cell-cell interaction mechanism, which is essential in controlling processes like cell proliferation, cell fate decision, differentiation or stem cell maintenance. Recent data have shown that Notch signaling is ...

Nature Publishing Group2011

Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration

Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages. Retinal degeneration in Rpe65(-/-) ...

Public Library of Science2009