A5052603329- Ophthalmology and Visual Impairment Studies
- Mitochondrial Function and Pathology
- Ophthalmology and Eye Disorders
- Visual perception and processing mechanisms
- Glaucoma and retinal disorders
- Vestibular and auditory disorders
- Drug-Induced Ocular Toxicity
- Retinal Development and Disorders
- Spatial Neglect and Hemispheric Dysfunction
- Intraocular Surgery and Lenses
- Cerebral Venous Sinus Thrombosis
- Corneal surgery and disorders
- Connexins and lens biology
- Retinal Diseases and Treatments
- Systemic Lupus Erythematosus Research
- Retinoids in leukemia and cellular processes
- Ocular Disorders and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Retinal and Optic Conditions
- Retinal and Macular Surgery
- Endoplasmic Reticulum Stress and Disease
- Metabolism and Genetic Disorders
- Medical and Biological Sciences
- Botulinum Toxin and Related Neurological Disorders
- Ocular Oncology and Treatments
Assistance Publique – Hôpitaux de Paris
2012-2025
Hôpital Européen Georges-Pompidou
2014-2025
Hôpital Européen
2006-2025
Sorbonne Paris Cité
2024
ERN EYE
2022-2024
Université Paris Cité
1995-2024
Centre Hospitalier Universitaire d'Angers
2022
Hôpital Necker-Enfants Malades
2008-2021
Hôpital Saint-Louis
2020
Anthera Pharmaceuticals (United States)
2018
Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history now fairly well understood. LHON also first for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by European Medicine Agency, under exceptional circumstances because of rarity severity disease. However, what remains unclear includes optimal target population, timing, dose, frequency...
We have used positron emission tomography (PET) to study the functional anatomy of repetition a prelearned sequence horizontal saccadic eye movements. Five subjects had memorize six successive saccades. The were scanned in total darkness under three different conditions: at rest, during execution self-paced saccades, and while repeating saccades sequence. led specific normalized regional cerebral blood flow (NrCBF) increases depth superior frontal sulcus as well rostral part supplementary...
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases due to one three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively MT-ND4, MT-ND1 MT-ND6 genes). However, the spectrum mtDNA causing remaining 10% only partially often poorly defined.
To reevaluate the ophthalmologic manifestations of Fabry disease (FD) following an improvement in management systemic complications.Cohort study.Thirty-two hemizygous FD patients from 26 unrelated pedigrees were studied prior to enzyme replacement therapy with recombinant alpha-galactosidase A.All underwent measurements refractive error and visual acuity, complete slit-lamp examination. Goldmann field was tested 27 cases.The mean age 37.0 +/- 12.8 years. The incidence myopic eyes 40.3%....
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form nerves, with a consistent genetic heterogeneity. As part our diagnostic activity, we retrospectively evaluated combination Leber hereditary neuropathy mutations testing exon sequencing 87 nuclear genes on 2186 patients referred for suspected neuropathies. The positive diagnosis rate in individuals was 18% (199/1126 index cases), 92% (184/199) carrying one three main pathogenic variants...
Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial involved fatty-acid biogenesis, have been reported two siblings from China affected by insidious optic nerve degeneration childhood, leading to blindness first decade of life. After analysing 51 families with negative molecular diagnostic tests, cohort 200 hereditary neuropathy (HON), we identified novel MCAT mutations female patient who presented acute, sudden,...
Optic neuropathies are characterized by the degeneration of optic nerves and represent a considerable individual societal burden. Notably, Leber's hereditary neuropathy (LHON) is devastating vision disease caused mitochondrial gene mutations that hinder oxidative phosphorylation increase stress, leading to loss retinal ganglion neurons axons. Loss rapid severe, predominantly in young adults. Penetrance incomplete, time onset unpredictable. Recent findings revealed incidence genetic LHON...
Introduction Wolfram syndrome ( WFS1- Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression. Sodium valproate, anticonvulsant neuroprotective properties, anticipated mediate its effect via alteration cell cycle kinetics, increases in p21 cip1 expression levels reduction apoptosis increase Wolframin protein expression. To date, have been...
The purpose of this study was to investigate the correlation between defects in automatic perimetry and macular temporal thinning optical coherent tomography (OCT) on patients with sickle cell disease (SCD) define impact its maculopathy visual function. This single site retrospective cross-sectional conducted a referral center for rare from January July 2020. Fifty-eight SCD were referred an ophthalmological examination including OCT. thickness field defect each Early Treatment Diabetic...
Abstract The regional cerebral blood flow correlates of the active fixation an imagined target were studied in five healthy humans using positron emission tomography activation paradigm. task was contrasted to a passive control condition, both tasks being performed total darkness. Blood increases observed frontal eye fields and supplementary median cingulate gyrus. We suggest that network these activated regions mediates interactions between ocular fixation, movements directed visual attention.
To report the results of non-penetrating deep sclerectomy (NPDS) in treatment glaucoma associated with Sturge-Weber syndrome (SWS).We carried out a retrospective case series analysis patients who underwent NPDS for SWS between 1998 and 2003. The control after NPDS, surgery on intraocular pressure, need additional medical surgical complications were studied.Twelve eyes nine patients, aged 11 days to 24 years, filtering surgery: procedures performed three had be converted trabeculectomy...
Wilson's disease is an autosomal recessive genetic disorder resulting from abnormality of copper metabolism. The excessive accumulation in the brain induces extrapyramidal syndrome. Oculomotor abnormalities occur most disorders but have rarely been studied disease.To evaluate ocular motility manifestations disease.A prospective study 34 patients affected by who were recruited and their recorded electro-oculography (EOG).Vertical smooth pursuit was abnormal 29 (85%). Vertical optokinetic...
In healthy subjects, the postural stability in orthostatic position is better when fixating at near than far. Increase convergence angle contributes to this effect. Children with strabismus present a deficit vergence. We evaluated control children respect vergence as they fixated different depths, thereby engaging active movements.A TechnoConcept platform was used record of 11 subjects (mean age 11.18 ± 4.02 years) convergent and 13 11.31 3.54 divergent 3 conditions: fixation 40 cm, 2 m,...
We performed video-oculography to evaluate vergence eye movement abnormalities in students diagnosed clinically with disorders. tested the efficiency of a novel rehabilitation method and evaluated its benefits cross-correlated clinical tests symptomatology.A total 19 (20-27 years old) underwent ophthalmologic, orthoptic examination, test coupled video-oculography. Eight patients were disorders high symptomatology score (CISS) 5-week session rehabilitation. Vergence tasks trapezoid surface...
Abstract Leber’s hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It characterized by an acute vision loss, generally in young adults, with a higher penetrance males. How dysfunction induces peculiar LHON clinical presentation remains unanswered question. To gain insight into this question, we carried out non-targeted metabolomic investigation using plasma of 18 patients, during chronic phase disease, comparing them...
Adult-onset Still’s disease (AOSD) is a rare systemic in-flammatory disorder of unknown etiology. It character-ized by daily high spiking fevers associated with an eva-nescent rash, arthritis, and multiorgan involvement (1,2).HerewereportapatientwithAOSD-associatedthromboticmicroangiopathy (TMA) combining central nervous sys-tem renal involvement, 2 severe andunusual complications: Purtscher-like retinopathy ex-tremity gangrene. Interestingly, biopsy showed de-creased expression glomerular...
Many patients show modulation of tinnitus by gaze, jaw or neck movements, reflecting abnormal sensorimotor integration, and interaction between various inputs. Postural control is based on multi-sensory integration (visual, vestibular, somatosensory, oculomotor) indeed there now evidence that posture can also be influenced sound. Perhaps influences similarly to external This study examines the quality postural performance in quiet stance with modulated tinnitus.Twenty-three highly were...
A bstract : This study explored in humans the role of posterior parietal cortex (PPC) saccades, vergence, and combined saccade‐vergence movements by means transcranial magnetic stimulation (TMS). TMS was applied to right PPC at 80 ms, 90 or 100 ms after target onset experiment 1, left 2. Control experiments were also run which over primary motor onset. Relative no‐TMS trials, prolonged significantly latency almost all eye (saccades either direction, convergence, divergence, components...
Background: Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision.Objective: To evaluate the nature and age onset ophthalmologic manifestations in pseudoxanthoma elasticum.Patients Methods: Forty consecutive patients affected with underwent measurements their refractive error visual acuity, together slit-lamp examination.Results: The mean (8 M, 32 F) was 43.35 years. Fifty-seven eyes (33 patients, age: 40.75 years) had...
Vision is important for postural control as shown by the Romberg quotient (RQ): with eyes closed, instability increases relative to open (RQ = 2). Yet while fixating at far distance, stability similar and closed 1). Postural can be better both viewing than one eye, but such effect not consistent among healthy subjects. The first goal of study test RQ a function distance children convergent versus divergent strabismus. second whether vision from two eye provides stability. Thirteen strabismus...