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INTRODUCTION: We performed a prospective, single-center, cohort study in order to evaluate the effects of vitrectomy with epiretinal membrane (ERM) peel on optical quality in patients with primary ERM. METHODS: Thirty patients treated for primary ERM by vitrectomy with ERM peel were included from our tertiary university hospital ophthalmology department. The main study outcome was a variation in optical quality parameters measured using the HD Analyzer™ between preoperative and 2-month postoperative evaluations in operated eyes. Optical quality parameters comprised point spread function (PSF) width at 10% and 50%, objective scatter index (OSI), and modulation transfer function (MTF) cutoff. Contralateral non-operated eyes were used as an internal control for measurement reproducibility. RESULTS: Mean PSF width at 10% (42.22 vs. 27.37 arc/min; p = 0.0002) and mean OSI (3.32 vs. 2.32; p = 0.0003) were significantly improved between pre- versus postoperative evaluations. Mean PSF width at 50% and mean MTF cutoff showed no changes. Subgroup analysis according to crystalline lens status gave similar results, demonstrating that improvements in mean PSF width at 10% and OSI were not lens-related. Non-operated eyes showed no changes in any of the parameters analyzed. CONCLUSION: Reduced light scattering measured by OSI indicates improved optical quality following vitrectomy with ERM peel among patients with primary ERM. OSI measurement could thus be a new parameter of interest in the preoperative assessment of primary ERM and other pre-vitrectomy assessments.
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Membrana Epirretinal , Aberrometría/métodos , Estudios de Cohortes , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/etiología , Membrana Epirretinal/cirugía , Humanos , Estudios Prospectivos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Vitrectomía/métodosRESUMEN
Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family. FDXR encodes the mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation. ISC proteins are involved in enzymatic catalysis, gene expression, and DNA replication and repair. We observed deregulated iron homeostasis in FDXR mutant fibroblasts and indirect evidence of mitochondrial iron overload. Functional complementation in a yeast strain in which ARH1, the human FDXR ortholog, was deleted established the pathogenicity of these mutations. These data highlight the wide clinical heterogeneity of mitochondrial disorders related to ISC synthesis.
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Ferredoxina-NADP Reductasa/genética , Pérdida Auditiva Central/genética , Proteínas Hierro-Azufre/metabolismo , Hierro/metabolismo , Enfermedades Mitocondriales/genética , Mutación , Atrofia Óptica/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Preescolar , Femenino , Ferredoxina-NADP Reductasa/química , Ferredoxina-NADP Reductasa/metabolismo , Prueba de Complementación Genética , Pérdida Auditiva Central/enzimología , Pérdida Auditiva Central/patología , Humanos , Proteínas Hierro-Azufre/genética , Masculino , Mitocondrias/enzimología , Mitocondrias/genética , Mitocondrias/patología , Enfermedades Mitocondriales/enzimología , Enfermedades Mitocondriales/patología , Atrofia Óptica/enzimología , Atrofia Óptica/patología , Linaje , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crecimiento & desarrollo , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo , Alineación de Secuencia , Adulto JovenRESUMEN
The spectrum of Myelin Oligodendrocytes Glycoprotein (MOG) antibody disease constitutes a recently described challenging entity, referring to a relatively new spectrum of autoimmune disorders with antibodies against MOG predominantly involving the optic nerve and spinal cord. The purpose of this article is to describe MRI features of MOG-AD involvement in the optic nerves, spinal cord and the brain of adults.
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Enfermedades Desmielinizantes/diagnóstico por imagen , Enfermedades Desmielinizantes/patología , Imagen por Resonancia Magnética , Adolescente , Adulto , Autoanticuerpos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Enfermedades Desmielinizantes/inmunología , Encefalitis/diagnóstico por imagen , Encefalitis/inmunología , Encefalitis/patología , Femenino , Humanos , Masculino , Glicoproteína Mielina-Oligodendrócito/inmunología , Mielitis/diagnóstico por imagen , Mielitis/inmunología , Mielitis/patología , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Neuritis Óptica/diagnóstico por imagen , Neuritis Óptica/inmunología , Neuritis Óptica/patología , Médula Espinal/diagnóstico por imagen , Médula Espinal/patología , Adulto JovenRESUMEN
AIMS: To improve the cytological diagnosis of retinal lymphoma on vitreous fluid using improved cell collection and systematic analyses. METHODS AND RESULTS: Since October 2010, we have developed and optimized in our department a method with which to perform the diagnosis of retinal lymphoma. The vitreous sample was collected in a tube containing RPMI-1640 medium, decomplemented fetal bovine serum, and gentamicin. The transport and technical steps were performed at 4°C. Systematically, cytological examination with May-Grünwald-Giemsa staining and immunocytochemistry (mainly anti-CD3, anti-CD20 and anti-CD68 antibodies) were performed on cytospins. Whenever possible, determination of B-cell clonality, flow cytometry and determination of the interleukin (IL)-10/IL-6 ratio were performed. From October 2010 to June 2013, with this optimized protocol, 38 vitreous cytological samples from 32 patients were analysed, and a final diagnosis was possible, avoiding a biopsy, in all cases except one. CONCLUSION: The preservation of vitreous fluid cells on culture medium led to the diagnosis of retinal lymphoma in 10 of 12 cases, and exclusion of this diagnosis in 26 cases. This protocol may be applied even when the delay in shipping from the surgery to the pathology departments exceeds 1 h.
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Linfoma no Hodgkin/diagnóstico , Neoplasias de la Retina/diagnóstico , Cuerpo Vítreo/patología , Adulto , Anciano , Anciano de 80 o más Años , Linfocitos B/patología , Femenino , Citometría de Flujo , Humanos , Interleucina-10/metabolismo , Interleucina-6/metabolismo , Linfoma no Hodgkin/metabolismo , Masculino , Persona de Mediana Edad , Cultivo Primario de Células , Neoplasias de la Retina/metabolismo , Estudios Retrospectivos , VitrectomíaRESUMEN
PURPOSE: To evaluate safety of medium-chain triglycerides used as a possible intraocular tamponading agent. METHODS: A 20-gauge pars plana vitrectomy was performed in the right eye of 28 rabbits. An ophthalmologic examination was performed every week until rabbits were killed. At days 7, 30, 60, and 90, rabbits were killed and the treated eyes were examined macroscopically and prepared for histologic examination. Principal outcome was retinal toxicity evaluated by light and electron microscopy, and secondary outcomes were the presence of medium-chain triglyceride emulsification, inflammatory reactions, and the development of cataract. RESULTS: Histologic examination did not reveal any retinal toxicity. Two cases of moderate emulsification were observed, but in these cases, emulsification was caused by the perioperative injection of the agent and did not increase during the postoperative period. We noted 13 cases of inflammatory reaction in vitreous cavity and no case of inflammatory reaction in anterior chamber. Two eyes developed cataract as a result of perioperative trauma to the lens with the vitreous cutter and not secondary to the presence of medium-chain triglycerides in the vitreous cavity. CONCLUSION: Medium-chain triglycerides did not induce morphologic evidence of retinal toxicity. The results suggest that medium-chain triglycerides could be a promising alternative intraocular tamponading agent for the treatment of retinal detachments.
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Endotaponamiento , Ácidos Grasos/toxicidad , Modelos Animales , Retina/efectos de los fármacos , Triglicéridos/toxicidad , Vitrectomía , Animales , Caproatos/química , Caproatos/toxicidad , Caprilatos/química , Caprilatos/toxicidad , Catarata/inducido químicamente , Ácidos Decanoicos/química , Ácidos Decanoicos/toxicidad , Combinación de Medicamentos , Emulsiones , Ácidos Grasos/química , Presión Intraocular/efectos de los fármacos , Inyecciones Intravítreas , Ácidos Láuricos/química , Ácidos Láuricos/toxicidad , Conejos , Retina/ultraestructura , Triglicéridos/químicaRESUMEN
Neuro-ophthalmological changes have been reported after prolonged exposure to microgravity; however, the pathophysiology remains unclear. The objectives of the present study were twofold: (1) to assess the neuro-ophthalmological impact of 21 days of head-down bed rest (HDBR) and (2) to determine the effects of resistance vibration exercise (RVE) alone or combined with nutritional supplementation (NeX). In this case, 12 healthy male subjects completed three interventions of a 21-day HDBR: a control condition without countermeasure (CON), a condition with resistance vibration exercise (RVE) comprising of squats, single leg heel and bilateral heel raises and a condition using also RVE associated with nutritional supplementation (NeX). Intraocular pressure (IOP) was assessed by applanation tonometry. Retinal nerve fiber layer thickness (RNFLT) was assessed with spectral-domain optical coherence tomography, before HDBR and between Day 2 and Day 4 after each session of HDBR. In CON condition, IOP was preserved; while in RVE and NeX conditions, IOP was increased. In CON condition, RNFLT was preserved after HDBR. RVE and NeX conditions did not have significant effects on RNFLT. This study showed that a 3-week HDBR did not induce significant ophthalmological changes. However, RVE induced an elevation in IOP after HDBR. Nutritional supplementation did not reduce or exacerbate the side effects of RVE.
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OBJECTIVES: To identify prognostic factors associated with poor visual recovery and chronic relapsing diseases, for example, multiple sclerosis (MS), in children with optic neuritis (ON) at onset. METHODS: This multicentre retrospective study included 102 children with a first ON episode between 1990 and 2012. The primary criterion was poor visual recovery determined by visual acuity, and the secondary was relapses following ON. RESULTS: Median age was 11 years, 66% were girls and mean follow-up was 24 months. 58% of children were diagnosed with idiopathic isolated ON, 22% had MS, 5% had Devic's neuromyelitis optica and 6% chronic relapsing inflammatory ON. Complete visual acuity recovery rate was 57% (95% CI=[46%-69%]) at 6 months and 71% (95% CI=[60%-81%]) at 1 and 2 years but was lower in MS (p<0.01), with recovery rate of only 27% (95% CI=[12%-54%]) at 1 year. Age ≥10 years, optic disc pallor at funduscopy and MS were the principal factors associated with poor visual recovery. Age ≥10 years, abnormal brain MRI at onset and oligoclonal banding were significantly associated with MS (p<0.01). CONCLUSION: Age ≥10, optic disc pallor and MS were associated with poor recovery. Better identification of these patients may help to adapt treatment and lead to a prospective treatment study.
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Neuritis Óptica/fisiopatología , Adolescente , Adulto , Niño , Femenino , Humanos , Estimación de Kaplan-Meier , Imagen por Resonancia Magnética , Masculino , Esclerosis Múltiple/complicaciones , Análisis Multivariante , Nervio Óptico/patología , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Agudeza Visual/fisiologíaRESUMEN
Endothelial decompensation is a serious complication of phakic intraocular lens (pIOL) implantation and is a major concern during the postoperative period. We report 3 eyes in which the same foldable angle-supported pIOL was implanted to correct high myopia. Rapid and severe postoperative endothelial cell loss occurred in all 3 eyes. An over-sized pIOL that induced excessive vaulting into the anterior chamber was the main risk factor. In 2 eyes, the pIOL was explanted uneventfully; 1 eye required Descemet's stripping automated endothelial keratoplasty because of total endothelial decompensation. These cases illustrate the importance of accurate sizing of foldable angle-supported anterior chamber pIOLs to avoid excessive vaulting. They also highlight the importance of regular follow-up and preventive pIOL explantation as soon as significant endothelial cell loss is detected.
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Cámara Anterior/cirugía , Enfermedades de la Córnea/etiología , Endotelio Corneal/patología , Implantación de Lentes Intraoculares/efectos adversos , Cristalino/fisiología , Miopía/cirugía , Complicaciones Posoperatorias , Cámara Anterior/diagnóstico por imagen , Femenino , Humanos , Masculino , Microscopía Acústica , Persona de Mediana EdadAsunto(s)
Amaurosis Fugax/etiología , Coito/fisiología , Hemorragia Retiniana/etiología , Maniobra de Valsalva , Hemorragia Vítrea/etiología , Adulto , Amaurosis Fugax/fisiopatología , Membrana Epirretinal/etiología , Femenino , Humanos , Presión , Remisión Espontánea , Hemorragia Retiniana/diagnóstico por imagen , Hemorragia Retiniana/fisiopatología , Tomografía de Coherencia Óptica , Hemorragia Vítrea/diagnóstico por imagen , Hemorragia Vítrea/fisiopatologíaRESUMEN
Foxn4, a member of the N-family forkhead transcription factors, controls fate decision in mouse retina and spinal cord as well as in zebrafish heart. Analysis of Foxn4 amino acid sequence revealed the presence of a region homologous to the activation domain of its close relative Foxn1 in between C-terminal amino acids 402 and 455 of Foxn4 protein. The requirement of Foxn4 putative activation domain remains to be elucidated. Using a gain-of function approach in rat and chick retinal explants, we report that deletion of Foxn4 putative activation domain results in a complete loss of its activity during retinogenesis. Target promoter transcription assay indicates that this domain is critical for Foxn4 transcriptional regulatory properties in vitro. Accordingly, in chick retinal explants, this domain is required for proper regulation of target retinogenic factors expression by Foxn4. Thus, our study demonstrates that the domain between amino acids 402 and 455 is necessary for Foxn4 transcriptional activity both in vitro and in the retina.
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Proteínas del Ojo/fisiología , Factores de Transcripción Forkhead/fisiología , Regulación del Desarrollo de la Expresión Génica , Retina/embriología , Transcripción Genética , Secuencia de Aminoácidos , Animales , Diferenciación Celular , Células Cultivadas , Embrión de Pollo , Proteínas del Ojo/química , Proteínas del Ojo/genética , Factores de Transcripción Forkhead/química , Factores de Transcripción Forkhead/genética , Genes Reporteros , Ratones , Datos de Secuencia Molecular , Neuronas/metabolismo , Técnicas de Cultivo de Órganos , Estructura Terciaria de Proteína , ARN Mensajero/biosíntesis , ARN Mensajero/genética , Ratas , Ratas Sprague-Dawley , Proteínas Recombinantes de Fusión/fisiología , Retina/crecimiento & desarrollo , Retina/metabolismo , Alineación de Secuencia , Homología de Secuencia de AminoácidoAsunto(s)
Autoanticuerpos/sangre , Imagen por Resonancia Magnética , Glicoproteína Mielina-Oligodendrócito/inmunología , Neuritis Óptica/diagnóstico por imagen , Adulto , Estudios de Cohortes , Femenino , Francia , Hemorragia/diagnóstico por imagen , Hemorragia/etiología , Humanos , Masculino , Persona de Mediana Edad , Neuritis Óptica/tratamiento farmacológico , Neuritis Óptica/inmunología , Esteroides/uso terapéuticoRESUMEN
PURPOSE: To determine risk factors of choroidal detachment after scleral buckling procedure for treatment of retinal detachment. DESIGN: Retrospective chart review. METHODS: The authors performed a retrospective study of 69 consecutive cases of retinal detachment from January 2007 to January 2008 treated by scleral buckling surgery. Two groups of patients were defined according to the absence or apparition of choroidal detachment, and a comparison of several parameters between these 2 groups was performed. RESULTS: Fifteen patients developed a choroidal detachment. The study found an average higher level of systolic blood pressure during surgery in the group with choroidal detachment than in the absence group (127.3 vs 119.1 mm Hg; P = .008). The authors also observed a statistically significant difference between the 2 groups when comparing the intraoperative peak value of systolic blood pressure (149.3 vs 138.5 mm Hg; P = .019). Finally, in the group that developed choroidal detachment, there were statistically more patients with high myopia (P = .02). CONCLUSION: This study highlights that the 2 main risk factors for development of choroidal detachment during scleral buckling surgery are high blood pressure during the intervention and the existence of high myopia.
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Enfermedades de la Coroides/etiología , Complicaciones Posoperatorias , Desprendimiento de Retina/cirugía , Curvatura de la Esclerótica/efectos adversos , Adolescente , Adulto , Anciano , Presión Sanguínea , Enfermedades de la Coroides/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Miopía Degenerativa/complicaciones , Estudios Retrospectivos , Factores de Riesgo , Rotura Espontánea , Adulto JovenRESUMEN
PURPOSE: To assess the efficacy and safety of a heavy silicone oil (Densiron 68 a mixture of perfluorohexyloctane (F(6)H(8)) with silicone oil as temporary internal tamponade in selected retinal detachments treated with large inferior retinectomy. METHODS: Complicated retinal detachments with severe posterior and anterior proliferative vitreoretinopathy (PVR) were included in this study. In all cases, a large inferior retinectomy involving the inferior quadrants was performed. Densiron 68 was injected at the end of surgery after perfluorocarbon injection. A minimum follow-up of 6 months was required in order to be included in this retrospective study. RESULTS: Twenty-seven patients were operated on with a mean follow-up of 57.5 weeks. Twenty-three patients presented a posterior PVR > CP6 and 26 patients an anterior PVR > CA5. Heavy silicone oil was removed in 19 patients after a mean follow-up of 14 weeks. At the 4-week follow-up visit, only one retinectomy was reopened by a recurrent inferior retinal detachment with PVR CP3. Finally, anatomical success was achieved in 25 of the 27 patients (92.5%) after Densiron 68 removal at the last follow-up. The main adverse effect was inflammatory reaction with fibrin accumulation in the anterior chamber (40.7%). CONCLUSION: Densiron 68 appeared to be an efficient endotamponade agent in selected retinal detachments treated with large inferior retinectomy. It avoids fluid accumulation under the inferior retina and seems to limit the rate of inferior retinectomy reopening.