552 results match your criteria: "Centre Hospitalier National D'Ophtalmologie des Quinze Vingts[Affiliation]"
Importance: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON).
Objective: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration.
Design, Setting, And Participants: The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), conducted from 2018 to 2022, is the 5-year follow-up study of the 2 phase 3 clinical studies RESCUE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss Up to 6 Months From Onset in LHON Due to the MT-ND4 Mutation) and REVERSE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss From 7 Months to 1 Year From Onset in LHON Due to the MT-ND4 Mutation).
J Fr Ophtalmol
December 2024
IHU FOReSIGHT, service 3, centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France; Direction de l'hospitalisation et des soins, Inserm, IHU FOReSIGHT, centre d'investigation clinique 1423, centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France; Hôpital Ambroise-Paré, AP-HP, université de Versailles Saint-Quentin en Yvelines, 9, avenue Charles-De-Gaulle, 92100 Boulogne-Billancourt, France; Institut de la vision, IHU FOReSIGHT, Sorbonne université, 17, rue Moreau, 75012 Paris, France.
The anatomy and vasculature of the optic nerve head are complex and subject to numerous variations. The main risk factor for glaucomatous optic neuropathy is elevated intraocular pressure, but many other factors have been identified. A vascular component seems to play an important role in the pathogenesis and/or progression of glaucomatous optic neuropathy, either under the influence of ocular hypertension or as an independent risk factor, particularly as in normal tension glaucoma (NTG).
View Article and Find Full Text PDFJ Fr Ophtalmol
December 2024
Service d'Ophtalmologie III, Centre hospitalier national d'ophtalmologie des Quinze-Vingts, IHU FOReSIGHT, 28, rue de Charenton, 75012 Paris, France; Institut de la vision, Sorbonne université, INSERM, CNRS, IHU FOReSIGHT, 17, rue Moreau, 75012 Paris, France; Hôpital Ambroise-Paré, AP-HP, université de Versailles Saint-Quentin-en-Yvelines, 9, avenue Charles-De-Gaulle, 92100 Boulogne Billancourt, France; Inserm-DGOS, centre d'investigation clinique 1423, Centre hospitalier national d'Ophtalmologie des Quinze-Vingts, IHU FOReSIGHT, 28, rue de Charenton, 75012 Paris, France.
Paracentral acute middle maculopathy is a lesion of the inner nuclear layer and outer plexiform layer of the macula associated with local or systemic vascular diseases that can induce retinal hypoxia. The etiologic mechanism may be related to the increase in intraocular pressure which creates conditions of hypoperfusion in the retinal vasculature. We present a case that shows a possible association between paracentral acute middle maculopathy and glaucoma with the trauma of elevated intraocular pressure as a triggering event.
View Article and Find Full Text PDFMass Spectrom Rev
December 2024
Toxalim (Research Centre in Food Toxicology), INRAE, ENVT, INP-Purpan, UPS, Université de Toulouse, Toulouse, France.
A large part of the Human chemical exposome is now well characterized, and its health effects has been widely documented, although precise causal links remain difficult to establish. In parallel, genetic factors only were shown to contribute less than 30% to various pathologies. Therefore, environmental factors may represent the predominant cause of chronic diseases.
View Article and Find Full Text PDFInt J Stroke
November 2024
Department of Neurology and stroke center, Rothschild Foundation Hospital, 25 rue Manin, Paris, France.
Nat Commun
November 2024
School of Optometry, Indiana University, Bloomington, IN, USA.
Adaptive optics (AO) is a powerful method for correcting dynamic aberrations in numerous applications. When applied to the eye, it enables cellular-resolution retinal imaging and enhanced visual performance and stimulation. Most ophthalmic AO systems correct dynamic aberrations up to 1-2 Hz, the commonly-known cutoff frequency for correcting ocular aberrations.
View Article and Find Full Text PDFNat Commun
November 2024
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Cité University, Paris, France.
NPJ Genom Med
November 2024
Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
Surv Ophthalmol
October 2024
Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Fondation Ophtalmologique A. de Rothschild, Paris, France; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Transl Vis Sci Technol
October 2024
Jaeb Center for Health Research, Tampa, FL, USA.
J Hypertens
December 2024
European Hypertension Excellence Center, Bordeaux University Hospital, Bordeaux.
Background: Malignant hypertension has not disappeared and remains the most severe form of hypertension. More than 100 years after its description, many points remain unanswered. Mechanisms, definitions, and optimal treatment are still controversial.
View Article and Find Full Text PDFBMJ Open Ophthalmol
September 2024
Médecine Interne, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris (APHP), Bobigny, France
Purpose: To better characterise the effects of corticosteroids on the course of pure idiopathic orbital inflammation syndrome (pIOIS).
Methods: This was a national, multicentre, prospective, non-interventional cohort study (). Among the 35 patients with histologically proven orbital inflammation who had previously been studied for their IgG4 immunostaining status, we selected those with a negative IgG4 status (ie, pIOIS) who received corticosteroids as single first-line treatment.
J Fr Ophtalmol
September 2024
Service d'ophtalmologie, hôpital Ambroise-Paré, université de Versailles Saint-Quentin-en-Yvelines, AP-HP, 9, avenue Charles-de-Gaulle, 92100 Boulogne-Billancourt, France; Service d'ophtalmologie, centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France; Inserm, U968, 75012 Paris, France; UMR S 968, institut de la vision, université UPMC Paris VI, 75012 Paris, France; CNRS, UMR 7210, 75012 Paris, France.
Stem Cell Res
December 2024
Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France. Electronic address:
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derived from this affected subject line were created using CRISPR/Cas9 engineering.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
September 2024
Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Purpose: To determine whether the Lrit3-/- mouse model of complete congenital stationary night blindness with an ON-pathway defect harbors myopic features and whether the genetic defect influences the recovery from lens-induced myopia.
Methods: Retinal levels of dopamine (DA) and 3,4 dihydroxyphenylacetic acid (DOPAC) from adult isolated Lrit3-/- retinas were quantified using ultra performance liquid chromatography after light adaptation. Natural refractive development of Lrit3-/- mice was measured from three weeks to nine weeks of age using an infrared photorefractometer.
Clin Genet
January 2025
Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.
Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod-cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes.
View Article and Find Full Text PDFRetina
September 2024
Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Purpose: To investigate changes to the vitreoretinal interface in uveitis with multimodal imaging including adaptive optics.
Methods: Four eyes (four patients) affected by fovea-attached (subtype 1A) or fovea-sparing epiretinal membranes (ERMs) on spectral-domain optical coherence tomography or visible internal limiting membrane (ILM) on infrared scanning laser ophthalmoscope (SLO) fundus imaging were recruited in this pilot study. The microstructure of the vitreoretinal interface was imaged using flood-illumination adaptive optics (FIAO), and the images were compared with the cross-sectional spectral-domain optical coherence tomography data.
Neurology
September 2024
From the Sorbonne Université (G.C., C.D.-F., E.P., S.S., L.D., P.C., R.K., R.H., H.H., J.-C.L., M.-L.W., P.P., A.B., S.T.d.M., A.D.), Paris Brain Institute, Inserm, CNRS, INRIA, APHP; CATI (C.F., M.C., J.-F.M.), US52-UAR2031, CEA, Paris Brain Institute, Sorbonne Université, CNRS, INSERM, APHP; Sorbonne Université (M.N., I.A.), Inserm, CNRS, Institut de la Vision; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (M.N., I.A.), National Rare Disease Center REFERET and INSERM-DGOS CIC 1423; Sorbonne Université (P.G.), Inserm, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; Sorbonne Université (K.D.), Inserm, Centre d'Immunologie et des Maladies Infectieuses-Paris (CIMI-Paris), France; P3lab (P.D.), Louvain-la-Neuve, Belgique; Clinical Metabolomic Department (A.L.), Assistance Publique-Hôpitaux de Paris, Saint Antoine Hospital, Saint-Antoine Research Center, Sorbonne University, France; Ionis Pharmaceuticals (R.L.), Carlsbad, CA; and Service de Neurophysiologie (B.G.), University Hospital Pitié-Salpêtrière, Paris, France.
Ocul Surf
October 2024
Paris-Saclay, Versailles Saint Quentin University, Paris, Île-de-France, France; Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, IHU ForeSight, Paris, Île-de-France, France.
Ophthalmic Res
August 2024
Department of Ophthalmology, University of Basel, Basel, Switzerland.
Front Cell Neurosci
July 2024
Sorbonne Université, INSERM, CNRS, IHU FOReSIGHT, Institut de la Vision, Paris, France.
Introduction: Damage to the corneal nerves can result in discomfort and chronic pain, profoundly impacting the quality of life of patients. Development of novel method is crucial to better understand corneal nerve regeneration and to find new treatments for the patients. Existing models often overlook the physiology of primary sensory neurons, for which the soma is separated from the nerve endings.
View Article and Find Full Text PDFGeriatr Psychol Neuropsychiatr Vieil
June 2024
Université Paris Cité, CNRS, CiTCoM, Paris, France, Département de biochimie, Centre hospitalier national d'ophtalmologie des Quinze-Vingts, Paris, France.
Hum Gene Ther
August 2024
Biogen Inc., Cambridge, Massachusetts, USA.
Choroideremia, an incurable, progressive retinal degeneration primarily affecting young men, leads to sight loss. GEMINI was a multicenter, open-label, prospective, two-period, interventional Phase II study assessing the safety of bilateral sequential administration of timrepigene emparvovec, a gene therapy, in adult males with genetically confirmed choroideremia (NCT03507686, ClinicalTrials.gov).
View Article and Find Full Text PDFAm J Ophthalmol
November 2024
From the Sorbonne Université, INSERM, CNRS, Institut de la Vision (Bianco, Antropoli, Condroyer, Antonio, Antonio, Navarro, Sahel, Zeitz, and Audo), Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC (Benadji, Sahel, and Audo), Paris, France. Electronic address:
Purpose: To investigate the clinical, functional, and imaging characteristics in patients affected by inherited retinal diseases associated with RDH5 and RLBP1 gene variants, and to report novel genotype-phenotype correlations.
Design: Retrospective single-center cohort study.
Methods: Twenty-two patients with molecularly confirmed RLBP1-associated retinopathy and 5 with RDH5-associated retinopathy.