Apports du bilan éthiologique des occlusions de l'artère centrale de la rétine et de ses branches et conséquences thérapeutiques

Introduction: L'occlusion artérielle rétinienne (OAR) est une pathologie rare et grave pour laquelle il n existe actuellement pas de consensus pour sa prise en charge thérapeutique. Patients et Méthodes: Il s'agit d'une étude rétrospective bicentrique analysant les données du bilan étiologique des patients admis pour une occlusion artérielle rétinienne au CHU de Tours et au CHU d Angers. Résultats: Cent trente et un patients atteints d OAR ont été inclus dans l'étude. L'âge moyen des patients était de 69,5 ans, avec une prépondérance de sujets de sexe masculin (64%). L'acuité visuelle initiale était effondrée chez les patients atteints d'occlusion de l'artère centrale de la rétine (90% inférieure ou égale à compte les doigts ), mais relativement préservée chez les patients atteints d'occlusion de branche de l'artère centrale de la rétine (63 % supérieure ou égale à 5/10). L'hypertension artérielle était le facteur de risque le plus souvent associé. Une sténose carotidienne était retrouvée dans 50% des cas, conduisant une endartériectomie pour 9 patients, alors qu'une cause cardiaque était incriminée dans 14% des cas. Cinq patients avaient une maladie de Horton. Discussion: Le bilan étiologique des OAR a permis la détection de pathologies cardio-vasculaires traitables, dont la prise en charge permet d'éviter la survenue d'une récidive ou d'un accident vasculaire cérébral ischémique. Conclusion: Malgré l'absence de traitement reconnu comme efficace, la réalisation d'un bilan étiologique des OAR permet le diagnostic de pathologies sous-jacentes, potentiellement traitables.Introduction: Retinal artery occlusions are rare and severe conditions threatening vision, and subsequently the mortality of these patients, due to associated vascular risk factors. Patients and methods: We retrospectively reviewed all the files of patients suffering of a retinal artery occlusion in two university hospitals in France (Tours and Angers). Results: A hundred and thirty one patients were included in the study with a mean age of 69,5 years. Most of them were men (64%). Central retinal artery occlusion resulted in a poor initial visual acuity (90% below 20/400), whereas those with branch retinal artery occlusion had better visual outcome (63% better than 20/40). Systemic arterial hypertension was the most common associated risk factor. The work-up allowed diagnosis of carotid stenosis in 50% of cases and an underlying cardiac causes in 14% of cases. Giant cell arteritis was diagnosed in five patients (3.8%). Discussion: Beyond the visual consequences, retinal arterial occlusion can be the presenting sign of underlying serious treatable conditions. Their early detection and treatment may avoid subsequent ophthalmic recurrences or stroke. Conclusion: Occurrence of a retinal vascular occlusion prompts a thorough work-up. In emergency, giant cell arteritis should be suspected, whereas other delayed examinations (carotid-Doppler, ultrasonography, echocardiography, electrocardiogram, blood test), may lead to subsequent effective systemic treatments.ANGERS-BU Médecine-Pharmacie (490072105) / SudocSudocFranceF

Serum vitamin D status is associated with the presence but not the severity of primary open angle glaucoma.

OBJECTIVES: Vitamin D is involved in visual health and function. Our objective was to determine whether age-related vitamin D insufficiency was associated with the presence and the severity of primary open angle glaucoma (POAG) in a case-control study of older adults. STUDY DESIGN: Case-control study. MAIN OUTCOME MEASURES: One hundred fifty cases diagnosed with moderate-to-severe POAG (mean, 75.1±8.5 years; 42.0% female) and 164 healthy controls (mean, 73.0±7.9 years; 59.8% female) were included. POAG diagnosis was based on classical diagnostic criteria of optic nerve cupping and/or RNFL thinning, measured with optical coherence tomography. Severe POAG was defined as Humphrey visual field mean deviation (MD) worse than -12dB. Vitamin D insufficiency was defined as serum 25OHD≤75nmol/L. Age, gender, mean arterial pressure, vitamin D supplementation, visual acuity, and intraocular pressure were used as potential confounders. RESULTS: POAG cases had lower mean serum 25OHD concentration than controls (42.9±25.7nmol/L versus 49.4±29.5nmol/L, P=0.039) and a greater prevalence of vitamin D insufficiency (90.7% versus 82.3%, P=0.032). Increased mean serum 25OHD concentrations were associated with lower POAG frequency, even after adjustment for potential confounders (OR=0.89 per 10nmol/L of 25OHD, P=0.045). Similarly, vitamin D insufficiency was associated with POAG (OR=2.09, P=0.034). Among POAG cases, no 25OHD difference was observed between moderate and severe POAG cases (respectively, 39.2±23.3nmol/L versus 45.1±26.7nmol/L, P=0.188); and no between-group difference regarding the prevalence of vitamin D insufficiency (88.9% versus 94.0%, P=0.313). CONCLUSIONS: Decreased serum 25OHD concentration was associated with POAG. There was no 25OHD difference between moderate and severe POAG

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

OBJECTIVE: To improve the genetic diagnosis of dominant optic atrophy (DOA), the most frequently inherited optic nerve disease, and infer genotype-phenotype correlations. METHODS: Exonic sequences of 22 genes were screened by new-generation sequencing in patients with DOA who were investigated for ophthalmology, neurology, and brain MRI. RESULTS: We identified 7 and 8 new heterozygous pathogenic variants in SPG7 and AFG3L2. Both genes encode for mitochondrial matricial AAA (m-AAA) proteases, initially involved in recessive hereditary spastic paraplegia type 7 (HSP7) and dominant spinocerebellar ataxia 28 (SCA28), respectively. Notably, variants in AFG3L2 that result in DOA are located in different domains to those reported in SCA28, which likely explains the lack of clinical overlap between these 2 phenotypic manifestations. In comparison, the SPG7 variants identified in DOA are interspersed among those responsible for HSP7 in which optic neuropathy has previously been reported. CONCLUSIONS: Our results position SPG7 and AFG3L2 as candidate genes to be screened in DOA and indicate that regulation of mitochondrial protein homeostasis and maturation by m-AAA proteases are crucial for the maintenance of optic nerve physiology

Mutations du gène OPA1 associées à une surdité.

ANGERS-BU Médecine-Pharmacie (490072105) / SudocSudocFranceF

What Do Eye Gaze Metrics Tell Us about Motor Imagery?

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Agents Involved and Severity of Acute Ocular Exposure Reported at a Poison Control Center

International audiencePurpose - The aim was to identify severity factors useful in the initial management of patients with acute ocular exposure while considering both categories of products involved and circumstances of exposure. Methods - A retrospective study over a one-year period that included patients who benefited from the poison center services for eye exposure to a chemical substance. Results - Within a year, 1582 patients were identified. The sex ratio (M/F) was 0.8. The mean age was 28.5 ± 20.3 years. Among children, those under 4 years represented the most significant age category (n = 277; 50.1%). Exposure to chemicals were mild (n = 1342, 84.8%). Adults over 65 years appeared to be more likely to have severe ocular damage (OR: 4.75; [2.26; 9.98]). Unintentional exposures were the most frequent (n = 1548; 97.8%). Ocular exposure primarily occurred at home (n = 937; 59.2%), and at the workplace (n = 396; 25%) which was associated with a higher risk of severe injury (OR: 2.93 [2.16; 3.97]). Cleaning products accounted for 31.2% of exposure cases (n = 457). Exposure to disinfectants is a risk factor of more severe injuries (OR: 1.48 [1.002; 2.19] = .0472) whereas pH and severity of injuries were not statistically significant. Conclusions - Our study showed the very wide variety of products involved in ocular exposures. Clinicians should pay attention to factors associated with severe injury, including young and old age, work-related injury, substances such as disinfectants, in addition to previously known factors such as acids and bases

Circulating vitamin D concentration and age-related macular degeneration: Systematic review and meta-analysis

International audienceVitamin D may be involved in ocular function in older adults, but there is no current consensus on a possible association between circulating concentrations of 25-hydroxyvitamin D (25OHD) and the occurrence of age-related macular degeneration (AMD). Our objective was to systematically review and quantitatively assess the association of circulating 25OHD concentration with AMD. A Medline search was conducted in November 2015, with no date limit, using the MeSH terms "Vitamin D" OR "Vitamin D deficiency" OR "Ergocalciferols" OR 'Cholecalciferol' combined with "Age-related macular degeneration" OR "Macular degeneration" OR "Retinal degeneration" OR "Macula lutea" OR "Retina". Fixed and random-effects meta-analyses were performed to compute (i) standard mean difference in 25OHD concentration between AMD and non-AMD patients; (ii) AMD risk according to circulating 25OHD concentration. Of the 243 retrieved studies, 11 observational studies-10 cross-sectional studies and 1 cohort study-met the selection criteria. The number of participants ranged from 65 to 17,045 (52-100% women), and the number with AMD ranged from 31 to 1440. Circulating 25OHD concentration was 15% lower in AMD compared with non-AMD on average. AMD was inversely associated with the highest 25OHD quintile compared with the lowest (summary odds ratio (OR)=0.83 [95%CI:0.71-0.97]), notably late AMD (summary OR=0.47 [95%CI:0.28-0.79]). Circulating 25OHD<50nmol/L was also associated with late-stage AMD (summary OR=2.18 [95%CI:1.34-3.56]), an association that did not persist when all categories of AMD were considered (summary OR=1.26 [95%CI:0.90-1.76]). In conclusion, this meta-analysis provides evidence that high 25OHD concentrations may be protective against AMD, and that 25OHD concentrations below 50nmol/L are associated with late AMD.Copyright © 2016 Elsevier Ireland Ltd. All rights reserved

A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE

International audiencePURPOSE: To investigate the prevalence and location of optic nerve head drusen and their potential association with other PXE-related ophthalmic abnormalities.MATERIALS AND METHODS: Thirty-eight of the 155 patients (57 male and 98 female aged 49±17 years) included in this retrospective study had optic nerve head drusen. All of the patients underwent a comprehensive ophthalmic examination, including color images using red-free, blue and red filters, autofluorescence imaging and late-phase ICG frames. Comparative analysis of both groups (optic nerve head drusen or not) was conducted using R statistical software.RESULTS: The prevalence of optic nerve head drusen in our cohort was 24.5%. In this study, no evidence of a significant link between optic nerve head drusen and other fundus abnormalities was detected. They were more commonly located in the nasal sector than in the temporal sector of the optic disc (P&lt;0.001). They were more frequently situated superonasally than inferonasally (P&lt;0.004), superotemporally (P&lt;0.001) or inferotemporally (P&lt;0.03). No central visual field defect was observed in OND+ patients who were unaffected by macular disorders.DISCUSSION: We hypothesized this predominantly nasal primary location may result from greater sensitivity in the nasal optic nerve fibers which follow a much more angular path once they arrive in the scleral canal, accounting for accumulation of axoplasmic debris.CONCLUSION: In PXE, optic nerve head drusen are mostly located in the superonasal quadrant, causing progressive optic nerve invasion but probably no central visual field defects.ObjectifÉtudier la prévalence, la localisation et l’association éventuelle des drusen de la tête du nerf optique (DNO) aux autres anomalies ophtalmologiques dans le pseudoxanthome élastique.Matériels et méthodesTrente-huit des 155 patients (57 hommes et 98 femmes âgés de 49&nbsp;±&nbsp;17 ans) inclus dans une étude rétrospective avaient des DNO. Tous les patients ont fait l’objet d’un examen ophtalmologique complet avec prise de clichés couleurs, en anérythre, en bleu, en rouge, en autofluorescence et en ICG avec clichés tardifs. Une analyse de comparaison des 2 groupes DNO+ et DNO- a été exécutée sur le logiciel de statistique R.RésultatsLa prévalence des DNO dans notre cohorte est de 24,5&nbsp;%, Notre étude n’a pas mis en évidence d’association significative entre les DNO et les autresatteintes du fond d’œil. Les DNO étaient plus fréquemment localisés dans le secteur nasal que dans le secteur temporal de la papille (p&nbsp;&lt;&nbsp;0,001). Ils étaient plusfréquemment localisés dans le quadrant nasal supérieur que dans le quadrant nasalinférieur (p&nbsp;&lt;&nbsp;0,004), temporal supérieur (p&nbsp;&lt;&nbsp;0,001) ou temporal inférieur (p&nbsp;&lt;&nbsp;0,03). Aucun déficit central n’a été retrouvé sur le champ visuel des patients DNO&nbsp;+&nbsp;indemne de maculopathie.DiscussionCette localisation nasale débutante préférentielle pourrait être due à une sensibilité plus importante des fibres optiques nasales qui ont un trajet beaucoup plus coudé lors de leur arrivée dans le canal scléral, responsable d’une accumulation de déchets axoplasmiques.ConclusionDans le PXE, les DNO sont localisés de façon préférentielle dans le cadran nasal supérieur, avec un envahissement progressif du nerf optique mais probablement sans répercussion sur le champ visuel central.&nbsp;</p

What Do Eye Gaze Metrics Tell Us about Motor Imagery? - Fig 1

<p>A. Photograph of the Box and Block Test (BBT) used for MC, Fix, KI, and VI conditions, with 15 blocks in the right hand compartment; B. Illustration of the placement of the two Regions of Interest (ROIs) used for counting the number midline crossings.</p