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1.
Int J Mol Sci ; 22(5)2021 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-33806565

RESUMEN

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from heterozygous missense mutations of KIF21A or TUBB3. Although spatiotemporal expression studies have shown KIF21A and TUBB3 expression in developing retinal ganglion cells, it is unclear whether dysinnervation extends beyond the oculomotor system. We aimed to investigate whether dysinnervation extends to the visual system by performing high-resolution optical coherence tomography (OCT) scans characterizing retinal ganglion cells within the optic nerve head and retina. Sixteen patients with CFEOM were screened for mutations in KIF21A, TUBB3, and TUBB2B. Six patients had apparent optic nerve hypoplasia. OCT showed neuro-retinal rim loss. Disc diameter, rim width, rim area, and peripapillary nerve fiber layer thickness were significantly reduced in CFEOM patients compared to controls (p < 0.005). Situs inversus of retinal vessels was seen in five patients. Our study provides evidence of structural optic nerve and retinal changes in CFEOM. We show for the first time that there are widespread retinal changes beyond the retinal ganglion cells in patients with CFEOM. This study shows that the phenotype in CFEOM extends beyond the motor nerves.


Asunto(s)
Fibrosis/patología , Músculos Oculomotores/patología , Oftalmoplejía/patología , Nervio Óptico/patología , Retina/patología , Adulto , Nervios Craneales/patología , Femenino , Fibrosis/genética , Humanos , Masculino , Mutación Missense/genética , Oftalmoplejía/genética , Disco Óptico/patología , Fenotipo , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Adulto Joven
5.
J Neurovirol ; 27(1): 171-177, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33460014

RESUMEN

The complete features of the neurological complications of coronavirus disease 2019 (COVID-19) still need to be elucidated, including associated cranial nerve involvement. In the present study we describe cranial nerve lesions seen in magnetic resonance imaging (MRI) of six cases of confirmed COVID-19, involving the olfactory bulb, optic nerve, abducens nerve, and facial nerve. Cranial nerve involvement was associated with COVID-19, but whether by direct viral invasion or autoimmunity needs to be clarified. The development of neurological symptoms after initial respiratory symptoms and the absence of the virus in the cerebrospinal fluid (CSF) suggest the possibility of autoimmunity.


Asunto(s)
Nervio Abducens/diagnóstico por imagen , Enfermedades de los Nervios Craneales/diagnóstico por imagen , Nervio Facial/diagnóstico por imagen , Bulbo Olfatorio/diagnóstico por imagen , Nervio Óptico/diagnóstico por imagen , Nervio Abducens/inmunología , Nervio Abducens/patología , Nervio Abducens/virología , Adulto , Anciano , Autoinmunidad , /patología , Enfermedades de los Nervios Craneales/inmunología , Enfermedades de los Nervios Craneales/patología , Enfermedades de los Nervios Craneales/virología , Nervio Facial/inmunología , Nervio Facial/patología , Nervio Facial/virología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Bulbo Olfatorio/inmunología , Bulbo Olfatorio/patología , Bulbo Olfatorio/virología , Nervio Óptico/inmunología , Nervio Óptico/patología , Nervio Óptico/virología , /patogenicidad
6.
BMJ Case Rep ; 14(1)2021 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-33472799

RESUMEN

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.


Asunto(s)
Coriorretinopatía Serosa Central/diagnóstico por imagen , Neovascularización Coroidal/diagnóstico por imagen , Coloboma/diagnóstico por imagen , Nervio Óptico/anomalías , Inhibidores de la Angiogénesis , Coriorretinopatía Serosa Central/complicaciones , Coriorretinopatía Serosa Central/tratamiento farmacológico , Coriorretinopatía Serosa Central/patología , Neovascularización Coroidal/complicaciones , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/patología , Coloboma/complicaciones , Coloboma/patología , Femenino , Angiografía con Fluoresceína , Humanos , Inyecciones Intravítreas , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Ranibizumab/uso terapéutico , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Adulto Joven
7.
Radiol Med ; 126(5): 698-706, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33392980

RESUMEN

OBJECTIVE: Retinal nerve fiber layer thickness (RNFL) is a biomarker of neuroaxonal loss and index of visual function in multiple sclerosis (MS). We aimed to assess the correlation between radiomic features and RNFL, visual acuity (VA) at patients' presentation, visual outcome (VO), and clinical diagnosis. METHODS: We reviewed imaging and clinical data of 25 patients with a first episode of optic neuritis (ON) (14 females, 11 males; 5 bilateral ON; 7 left ON; 13 right ON). All patients underwent a complete ophthalmological assessment, including visual acuity and RNFL, neurological evaluation, orbits MRI. Segmentation of the optic nerves was performed through 3D slicer open software to get radiomics analysis. All patients underwent a complete neuro-ophthalmological follow-up at 6 months to assess the VO, classified as: complete recovery, partial recovery, deficit persistence/relapse, or visual worsening and were diagnosed as MS or clinically isolated syndrome. RESULTS: We observed significant correlations between radiomic features and RNFL and between radiomic features and VA. Regression model analysis identified 1 radiomic feature with significant association with VO (Gray Level non-uniformity Normalized, p = 0.004) and 6 radiomic features with significant correlation with diagnosis (High Gray Level Zone Emphasis, p < 0.001; Entropy, p < 0.001, for T1 segmentation; Mean Absolute Deviation, p < 0.001; Coarseness < 0.001; Small Area Low Gray Level Emphasis, p < 0.001; Contrast, p = 0.008, for STIR segmentation). CONCLUSION: Orbits MRI analysis at the first episode of ON has the potential to assess the visual function and VO in ON patients, and predict MS development.


Asunto(s)
Enfermedades Desmielinizantes/diagnóstico , Imagen por Resonancia Magnética/métodos , Neuritis Óptica/diagnóstico por imagen , Enfermedad Aguda , Adulto , Femenino , Humanos , Imagenología Tridimensional , Masculino , Esclerosis Múltiple/diagnóstico , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Neuritis Óptica/patología , Valor Predictivo de las Pruebas , Recuperación de la Función , Agudeza Visual
8.
PLoS One ; 16(1): e0243862, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33406093

RESUMEN

ST266 is the biological secretome of cultured Amnion-derived Multipotent Progenitor cells containing multiple growth factors and cytokines. While intranasally-administered ST266 improves the phenotype in experimental optic neuritis, specific ST266 components mediating these effects are not known. We compared the effects of ST266 with and without removal of large molecular weight proteins both in vitro and in the multiple sclerosis model experimental autoimmune encephalomyelitis (EAE) in C57BL/6J mice. Mice were treated daily with intranasal vehicle, ST266 or lower molecular weight fraction of ST266. Retinal ganglion cells were counted in isolated retinas, and optic nerves were assessed for inflammation and demyelination. ST266 treatment significantly improved retinal ganglion cell survival and reduced optic nerve demyelination in EAE mice. The lower molecular weight ST266 fraction significantly improved optic nerve demyelination, but only showed a trend towards improved retinal ganglion cell survival. ST266 fractions below 50kDa increased Schwann cell proliferation in vitro, but were less effective than non-fractionated ST266. Demyelination attenuation was partially associated with the lower molecular weight ST266 fraction, but removal of higher molecular weight biomolecules from ST266 diminishes its neuroprotective effects, suggesting at least some high molecular weight proteins play a role in ST266-mediated neuroprotection.


Asunto(s)
Amnios/citología , Células Madre Multipotentes/citología , Neuroprotección , Animales , Proliferación Celular , Enfermedades Desmielinizantes/complicaciones , Enfermedades Desmielinizantes/patología , Encefalomielitis Autoinmune Experimental/complicaciones , Encefalomielitis Autoinmune Experimental/patología , Femenino , Ratones Endogámicos C57BL , Peso Molecular , Glicoproteína Mielina-Oligodendrócito , Nervio Óptico/patología , Neuritis Óptica/complicaciones , Neuritis Óptica/patología , Péptidos , Células Ganglionares de la Retina/patología , Células de Schwann/patología
9.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-33431444

RESUMEN

A 71-year-old man, living with metastatic castrate-resistant prostate cancer to the lymph nodes, spine and skull, presented with acute on chronic left eye vision loss. Examination revealed no-light-perception vision, a relative afferent pupillary defect and optic disc cupping. MRI brain revealed optic canal narrowing from metastatic sphenoid bone expansion and extraosseous tumour compressing the intracanalicular optic nerve. The optic disc cupping and excavation without significant pallor of the remaining neuroretinal rim was likely secondary to chronic compression of the optic nerve. The patient was treated with radiation therapy, but did not regain vision and was referred to palliative care as his condition continued to worsen. As patients live longer with advanced cancer, there is a greater risk of metastasis to atypical areas of the body including the optic nerve. This case demonstrates the unique combination of optic disc cupping from optic canal metastasis due to prostate cancer.


Asunto(s)
Ceguera/etiología , Síndromes de Compresión Nerviosa/etiología , Nervio Óptico/patología , Neoplasias Orbitales/diagnóstico , Neoplasias de la Próstata/patología , Anciano , Ceguera/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Síndromes de Compresión Nerviosa/diagnóstico , Nervio Óptico/diagnóstico por imagen , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/radioterapia , Neoplasias Orbitales/secundario , Neoplasias de la Próstata/terapia , Radiocirugia , Agudeza Visual
10.
BMJ Case Rep ; 13(12)2020 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-33334745

RESUMEN

Optic pathway cavernous malformations represent less than 1% of all central nervous system cavernomas. They can lead to visual loss with indeterminate speed, and therefore, the timing of intervention is controversial. We present a patient with an optic nerve cavernoma, which was discovered incidentally 3 years before the onset of visual symptoms. The evolution of her symptoms, visual function and radiographic findings are reported in detail. The cavernoma was eventually removed via a transciliary orbitocranial keyhole approach with the goal to protect the optic chiasm from progressive involvement. The function in the affected optic nerve was not salvageable. This is the second reported case of a cavernoma selectively involving the intracranial portion of the optic nerve. The debate on the timing of intervention is highlighted with reference to the natural history of these rare lesions.


Asunto(s)
Ceguera/etiología , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Procedimientos Neuroquirúrgicos/métodos , Neoplasias del Nervio Óptico/cirugía , Adulto , Femenino , Hemangioma Cavernoso del Sistema Nervioso Central/complicaciones , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Humanos , Hallazgos Incidentales , Imagen por Resonancia Magnética , Nervio Óptico/patología , Nervio Óptico/cirugía , Neoplasias del Nervio Óptico/complicaciones , Neoplasias del Nervio Óptico/diagnóstico , Neoplasias del Nervio Óptico/patología , Factores de Tiempo , Tiempo de Tratamiento/normas , Espera Vigilante/normas
11.
Nat Commun ; 11(1): 5594, 2020 11 05.
Artículo en Inglés | MEDLINE | ID: mdl-33154371

RESUMEN

The underlying pathological mechanisms of glaucomatous trabecular meshwork (TM) damage and elevation of intraocular pressure (IOP) are poorly understood. Here, we report that the chronic endoplasmic reticulum (ER) stress-induced ATF4-CHOP-GADD34 pathway is activated in TM of human and mouse glaucoma. Expression of ATF4 in TM promotes aberrant protein synthesis and ER client protein load, leading to TM dysfunction and cell death. These events lead to IOP elevation and glaucomatous neurodegeneration. ATF4 interacts with CHOP and this interaction is essential for IOP elevation. Notably, genetic depletion or pharmacological inhibition of ATF4-CHOP-GADD34 pathway prevents TM cell death and rescues mouse models of glaucoma by reducing protein synthesis and ER client protein load in TM cells. Importantly, glaucomatous TM cells exhibit significantly increased protein synthesis along with induction of ATF4-CHOP-GADD34 pathway. These studies indicate a pathological role of ATF4-CHOP-GADD34 pathway in glaucoma and provide a possible treatment for glaucoma by targeting this pathway.


Asunto(s)
Factor de Transcripción Activador 4/metabolismo , Estrés del Retículo Endoplásmico , Glaucoma de Ángulo Abierto/metabolismo , Biosíntesis de Proteínas , Factor de Transcripción Activador 4/antagonistas & inhibidores , Factor de Transcripción Activador 4/genética , Animales , Humor Acuoso/metabolismo , Muerte Celular , Células Cultivadas , Estrés del Retículo Endoplásmico/efectos de los fármacos , Estrés del Retículo Endoplásmico/genética , Glaucoma de Ángulo Abierto/tratamiento farmacológico , Glaucoma de Ángulo Abierto/patología , Humanos , Ratones , Hipertensión Ocular/tratamiento farmacológico , Hipertensión Ocular/metabolismo , Hipertensión Ocular/patología , Nervio Óptico/metabolismo , Nervio Óptico/patología , Biosíntesis de Proteínas/efectos de los fármacos , Proteína Fosfatasa 1/genética , Proteína Fosfatasa 1/metabolismo , Células Ganglionares de la Retina/metabolismo , Células Ganglionares de la Retina/patología , Transducción de Señal , Malla Trabecular/efectos de los fármacos , Malla Trabecular/metabolismo , Malla Trabecular/patología , Factor de Transcripción CHOP/genética , Factor de Transcripción CHOP/metabolismo
12.
PLoS One ; 15(10): e0240109, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33007029

RESUMEN

PURPOSE: To compare the properties of the lamina cribrosa (LC) and the peripapillary vessel density between branch retinal vein occlusion (BRVO) and normal-tension glaucoma (NTG), using swept-source optical coherence tomography and optical coherence tomography angiography. METHODS: This retrospective study included 21 eyes of 21 patients with BRVO and 43 eyes of 43 patients with NTG who were treated from June 2016 to September 2017. The anterior LC depth (ALCD) and LC thickness (LCT) at the mid-superior, central, and mid-inferior levels; the mean difference in ALCD; and the peripapillary vessel density in the superficial and deep capillary plexuses and the choriocapillaris were compared between groups. RESULTS: ALCD at the mid-superior, central, and mid-inferior levels was significantly greater in the NTG group (P < 0.05), while LCT was comparable between the groups. The mean difference in ALCD was significantly greater in the BRVO group (P = 0.03). The peripapillary vessel density in the superotemporal segment of the superficial capillary plexus was significantly lower in the BRVO group, while the density in all segments of the choriocapillaris was significantly lower in the NTG group (P < 0.05 for all). CONCLUSIONS: Our findings demonstrate that BRVO and NTG have different LC structures and peripapillary vessel densities.


Asunto(s)
Glaucoma de Baja Tensión/patología , Oclusión de la Vena Retiniana/patología , Vasos Retinianos/patología , Anciano , Femenino , Fondo de Ojo , Humanos , Glaucoma de Baja Tensión/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/patología , Reproducibilidad de los Resultados , Oclusión de la Vena Retiniana/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica
13.
BMC Neurol ; 20(1): 354, 2020 Sep 22.
Artículo en Inglés | MEDLINE | ID: mdl-32962645

RESUMEN

BACKGROUND: In acute large anterior circulation infarct patients with large core volume, we evaluated the role of optic nerve sheath diameter (ONSD) change rates in prediction of malignant progression. METHODS: We performed a retrospective observational study including patients with anterior circulation acute ischemic stroke with large ischemic cores from January 2010 to October 2017. Primary outcome was defined as undergoing decompressive surgery or death due to severe cerebral edema, and termed malignant progression. Patients were divided into malignant progressors and nonprogressors. Malignant progression was divided into early progression that occurred before D1 CT, and late progression that occurred afterwards. Retrospective analysis of changes in mean ONSD/eyeball transverse diameter (ETD) ratio, and midline shifting (MLS) were evaluated on serial computed tomography (CT). Through analysis of CT at baseline, postprocedure, and at D1, the predictive ability of time based change in ONSD/ETD ratio in predicting malignant progression was evaluated. RESULTS: A total of 58 patients were included. Nineteen (32.8%) were classified as malignant; 12 early, and 7 late progressions. In analysis of CTpostprocedure, A 1 mm/hr. rate of change in MLS during the CTbaseline-CTpostprocedure time phase lead to a 6.7 fold increased odds of early malignant progression (p < 0.05). For ONSD/ETD, 1%/hr. change lead to a 1.6 fold increased odds, but this association was trending (p = 0.249). In the CTD1, 1%/day change of ONSD/ETD in the CTbaseline-CTD1 time phase lead to a 1.4 fold increased odds of late malignant progression (p = 0.021) while 1 mm/day rate of change in MLS lead to a 1.5 fold increased odds (p = 0.014). CONCLUSIONS: The rate of ONSD/ETD changes compared to baseline at D1 CT can be a predictor of late malignant progression along with MLS. ONSD/ETD change rates evaluated at postprocedure did not predict early malignant progression.


Asunto(s)
Edema Encefálico/etiología , Nervio Óptico/patología , Accidente Cerebrovascular/patología , Edema Encefálico/patología , Edema Encefálico/cirugía , Craneotomía , Descompresión Quirúrgica , Progresión de la Enfermedad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nervio Óptico/diagnóstico por imagen , Selección de Paciente , Estudios Retrospectivos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/cirugía , Tomografía Computarizada por Rayos X/métodos
14.
Ocul Immunol Inflamm ; 28(6): 922-925, 2020 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-32870739

RESUMEN

OBJECTIVE: To describe the ocular manifestations in a case of novel coronavirus disease 2019 (COVID-19). MATERIAL AND METHODS: A case of unilateral panuveitis and optic neuritis as initial presentation of COVID-19. RESULTS: As it is published, angiotensin-converting-enzyme-2 receptors can be found in many organs, such as the eyes, nerves, and vessels, so extrapulmonary involvement would be expected. According to current evidence and clinical characteristics of the patient, uveitis and optic neuritis could be produced by the virus. CONCLUSIONS: It is fundamental to consider panuveitis and optic neuritis as an unusual presentation of ocular involvement in COVID-19 so proper care can be given to the patients.


Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/complicaciones , Infecciones Virales del Ojo/etiología , Neuritis Óptica/etiología , Panuveítis/etiología , Neumonía Viral/complicaciones , Infecciones por Coronavirus/epidemiología , Infecciones Virales del Ojo/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Nervio Óptico/patología , Neuritis Óptica/diagnóstico , Pandemias , Panuveítis/diagnóstico , Neumonía Viral/epidemiología , Tomografía de Coherencia Óptica/métodos
15.
PLoS One ; 15(8): e0238104, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32822415

RESUMEN

PURPOSE: To delineate responses of optic nerve head astrocytes to sustained intraocular pressure (IOP) elevation in mice. METHODS: We elevated IOP for 1 day to 6 weeks by intracameral microbead injection in 4 strains of mice. Astrocyte alterations were studied by transmission electron microscopy (TEM) including immunogold molecular localization, and by laser scanning microscopy (LSM) with immunofluorescence for integrin ß1, α-dystroglycan, and glial fibrillary acidic protein (GFAP). Astrocyte proliferation and apoptosis were quantified by Ki67 and TUNEL labeling, respectively. RESULTS: Astrocytes in normal optic nerve head expressed integrin ß1 and α-dystroglycan by LSM and TEM immunogold labeling at electron dense junctional complexes that were found only on cell membrane zones bordering their basement membranes (BM) at the peripapillary sclera (PPS) and optic nerve head capillaries. At 1-3 days after IOP elevation, abnormal extracellular spaces appeared between astrocytes near PPS, and axonal vesical and mitochondrial accumulation indicated axonal transport blockade. By 1 week, abnormal spaces increased, new collagen formation occurred, and astrocytes separated from their BM, leaving cell membrane fragments. Electron dense junctional complexes separated or were absent at the BM. Astrocyte proliferation was modest during the first week, while only occasional apoptotic astrocytes were observed by TEM and TUNEL. CONCLUSIONS: Astrocytes normally exhibit junctions with their BM which are disrupted by extended IOP elevation. Responses include reorientation of cell processes, new collagen formation, and cell proliferation.


Asunto(s)
Astrocitos/fisiología , Glaucoma/patología , Nervio Óptico/fisiología , Animales , Apoptosis , Astrocitos/citología , Astrocitos/patología , Proliferación Celular , Modelos Animales de Enfermedad , Proteína Ácida Fibrilar de la Glía/metabolismo , Presión Intraocular , Ratones , Ratones Endogámicos C57BL , Microscopía Confocal , Microscopía Electrónica de Transmisión , Nervio Óptico/citología , Nervio Óptico/patología
16.
PLoS One ; 15(7): e0236450, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32706792

RESUMEN

Retinal ganglion cell (RGC) loss and optic neuropathy, both hallmarks of glaucoma, have been shown to involve N-methyl-D-aspartate receptor (NMDAR)-mediated excitotoxicity. This study investigated the neuroprotective effects of Philanthotoxin (PhTX)-343 in NMDA-induced retinal injury to alleviate ensuing visual impairments. Sprague-Dawley rats were divided into three; Group I was intravitreally injected with phosphate buffer saline as the control, Group II was injected with NMDA (160 nM) to induce retinal excitotoxic injury, while Group III was injected with PhTX-343 (160 nM) 24 h prior to excitotoxicity induction with NMDA. Rats were subjected to visual behaviour tests seven days post-treatment and subsequently euthanized. Rat retinas and optic nerves were subjected to H&E and toluidine blue staining, respectively. Histological assessments showed that NMDA exposure resulted in significant loss of retinal cell nuclei and thinning of ganglion cell layer (GCL). PhTX-343 pre-treatment prevented NMDA-induced changes where the RGC layer morphology is similar to the control. The numbers of nuclei in the NMDA group were markedly lower compared to the control (p<0.05). PhTX-343 group had significantly higher numbers of nuclei within 100 µm length and 100 µm2 area of GCL (2.9- and 1.7-fold, respectively) compared to NMDA group (p<0.05). PhTX-343 group also displayed lesser optic nerve fibres degeneration compared to NMDA group which showed vacuolation in all sections. In the visual behaviour test, the NMDA group recorded higher total distance travelled, and lower total immobile time and episodes compared to the control and PhTX-343 groups (p<0.05). Object recognition tests showed that the rats in PhTX-343 group could recognize objects better, whereas the same objects were identified as novel by NMDA rats despite multiple exposures (p<0.05). Visual performances in the PhTX-343 group were all comparable with the control (p>0.05). These findings suggested that PhTX-343 inhibit retinal cell loss, optic nerve damage, and visual impairments in NMDA-induced rats.


Asunto(s)
Fármacos Neuroprotectores , Traumatismos del Nervio Óptico/tratamiento farmacológico , Nervio Óptico/efectos de los fármacos , Fenoles , Poliaminas , Células Ganglionares de la Retina/efectos de los fármacos , Animales , Masculino , N-Metilaspartato/toxicidad , Fármacos Neuroprotectores/farmacología , Fármacos Neuroprotectores/uso terapéutico , Nervio Óptico/patología , Traumatismos del Nervio Óptico/inducido químicamente , Fenoles/farmacología , Fenoles/uso terapéutico , Poliaminas/farmacología , Poliaminas/uso terapéutico , Ratas , Ratas Sprague-Dawley , Células Ganglionares de la Retina/patología , Visión Ocular/efectos de los fármacos
17.
Medicine (Baltimore) ; 99(29): e20670, 2020 Jul 17.
Artículo en Inglés | MEDLINE | ID: mdl-32702816

RESUMEN

RATIONAL: Cavernous hemangiomas are one of the most common benign primary orbital lesions. These tumors are insidious in onset, slowly progressive and present more often in middle aged women. Multiple orbital cavernous hemangiomas are extremely rare, and only a few cases have been reported in the published literature. PATIENT CONCERNS: Here, we report the diagnosis and treatment of multiple cavernous hemangiomas in the right orbit of a female patient with impaired visual acuity and proptosis of the eye for more than 10 years. DIAGNOSIS: Magnetic resonance imaging of the orbit showed a giant and irregular soft mass filling the intraconal and extraconal space of the right orbit, compressing the right optic nerve. After tumor resection, histopathological examination confirmed the diagnosis of cavernous hemangioma. INTERVENTIONS: A lateral orbitotomy was performed and a total of 13 tumors were excised, with the largest tumor measuring approximately 2.5 × 3.0 cm. OUTCOMES: The visual acuity of the patient was preserved, with only a slightly dilated pupil of the right eye. The follow-up period was 6 months with no signs of recurrence. LESSONS: Multiple cavernous hemangiomas in the orbit is rare and should be excised surgically as soon as possible.


Asunto(s)
Hemangioma Cavernoso/cirugía , Síndromes de Compresión Nerviosa/etiología , Nervio Óptico/patología , Neoplasias Orbitales/patología , Adulto , Cuidados Posteriores , Niño , Exoftalmia/etiología , Femenino , Hemangioma Cavernoso/complicaciones , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neoplasias Orbitales/diagnóstico por imagen , Resultado del Tratamiento , Trastornos de la Visión/etiología
18.
Neurology ; 94(23): e2468-e2478, 2020 06 09.
Artículo en Inglés | MEDLINE | ID: mdl-32434868

RESUMEN

OBJECTIVE: To evaluate the frequency of asymptomatic optic nerve lesions and their role in the asymptomatic retinal neuroaxonal loss observed in multiple sclerosis (MS). METHODS: We included patients with remitting-relapsing MS in the VWIMS study (Analysis of Neurodegenerative Process Within Visual Ways In Multiple Sclerosis) (ClinicalTrials.gov Identifier: 03656055). Included patients underwent optical coherence tomography (OCT), optic nerve and brain MRI, and low-contrast visual acuity measurement. In eyes of patients with MS without optic neuritis (MS-NON), an optic nerve lesion on MRI (3D double inversion recovery [DIR] sequence) was considered as an asymptomatic lesion. We considered the following OCT/MRI measures: peripapillary retinal nerve fiber layer thickness, macular ganglion cell + inner plexiform layer (mGCIPL) volumes, optic nerve lesion length, T2 lesion burden, and fractional anisotropy within optic radiations. RESULTS: An optic nerve lesion was detected in half of MS-NON eyes. Compared to optic nerves without any lesion and independently of the optic radiation lesions, the asymptomatic lesions were associated with thinner inner retinal layers (p < 0.0001) and a lower contrast visual acuity (p ≤ 0.003). Within eyes with asymptomatic optic nerve lesions, optic nerve lesion length was the only MRI measure significantly associated with retinal neuroaxonal loss (p < 0.03). Intereye mGCIPL thickness difference (IETD) was lower in patients with bilateral optic nerve DIR hypersignal compared to patients with unilateral hypersignal (p = 0.0317). For the diagnosis of history of optic neuritis, sensitivity of 3D DIR and of mGCIPL IETD were 84.9% and 63.5%, respectively. CONCLUSIONS: Asymptomatic optic nerve lesions are an underestimated and preponderant cause of retinal neuroaxonal loss in MS. 3D DIR sequence may be more sensitive than IETD measured by OCT for the detection of optic nerve lesions.


Asunto(s)
Esclerosis Múltiple/patología , Nervio Óptico/patología , Retina/patología , Adolescente , Adulto , Anciano , Anisotropía , Enfermedades Asintomáticas , Atrofia , Sensibilidad de Contraste , Estudios Transversales , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/tratamiento farmacológico , Natalizumab/uso terapéutico , Fibras Nerviosas/patología , Neuroimagen , Nervio Óptico/diagnóstico por imagen , Tamaño de los Órganos , Proyectos Piloto , Retina/diagnóstico por imagen , Degeneración Retiniana/etiología , Degeneración Retiniana/patología , Sensibilidad y Especificidad , Tomografía de Coherencia Óptica , Corteza Visual/diagnóstico por imagen , Corteza Visual/patología , Adulto Joven
19.
Invest Ophthalmol Vis Sci ; 61(4): 46, 2020 04 09.
Artículo en Inglés | MEDLINE | ID: mdl-32343784

RESUMEN

Purpose: This study aimed to explore the morphological characteristics of Bruch's membrane opening distance (BMOD), border length (BL), border tissue angle (BTA), vertical tilt angle, and peripapillary atrophy (PPA), as well as their associations with choroidal thickness (ChT) in young healthy highly myopic eyes. Methods: A total of 167 patients with high myopia and 172 individuals without high myopia were enrolled. All of the subjects were divided by axial length. The PPA area was measured on fundus photographs. BMOD, BL, BTA, vertical tilt angle, macular ChT (mChT), and peripapillary ChT (pChT) were measured on swept-source optical coherence tomography scans. Results: The PPA area (P < 0.0001) and vertical tilt angle (P < 0.0001) were larger, BMOD (P < 0.0001) and BL (P < 0.0001) were longer, and BTA (P < 0.0001) was smaller in the high-myopia group compared with the group without high myopia. Every 1-µm increase in BMOD was associated with a 35.80-µm decrease in mChT; every 1° decrease in BTA was correlated with a 0.32-µm decrease in mChT and a 0.26-µm decrease in pChT; and no association was found between PPA area and ChT in the multivariate linear regression model. Conclusions: PPA area, BL, BMOD, and vertical tilt angle increased, but BTA decreased with axial elongation of the globe in young, healthy patients with myopia. Longer BMOD was positively correlated with lower mChT, and smaller BTA was positively correlated with lower mChT and pChT in this population.


Asunto(s)
Lámina Basal de la Coroides/patología , Progresión de la Enfermedad , Miopía/patología , Nervio Óptico/patología , Tomografía de Coherencia Óptica , Adulto , Lámina Basal de la Coroides/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Miopía/diagnóstico por imagen , Atrofia Óptica/patología , Atrofia Óptica/fisiopatología , Nervio Óptico/diagnóstico por imagen , Análisis de Regresión , Medición de Riesgo , Índice de Severidad de la Enfermedad , Agudeza Visual , Adulto Joven
20.
J Neurosci ; 40(20): 3896-3914, 2020 05 13.
Artículo en Inglés | MEDLINE | ID: mdl-32300046

RESUMEN

Optic neuropathies are a group of optic nerve (ON) diseases caused by various insults including glaucoma, inflammation, ischemia, trauma, and genetic deficits, which are characterized by retinal ganglion cell (RGC) death and ON degeneration. An increasing number of genes involved in RGC intrinsic signaling have been found to be promising neural repair targets that can potentially be modulated directly by gene therapy, if we can achieve RGC specific gene targeting. To address this challenge, we first used adeno-associated virus (AAV)-mediated gene transfer to perform a low-throughput in vivo screening in both male and female mouse eyes and identified the mouse γ-synuclein (mSncg) promoter, which specifically and potently sustained transgene expression in mouse RGCs and also works in human RGCs. We further demonstrated that gene therapy that combines AAV-mSncg promoter with clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing can knock down pro-degenerative genes in RGCs and provide effective neuroprotection in optic neuropathies.SIGNIFICANCE STATEMENT Here, we present an RGC-specific promoter, mouse γ-synuclein (mSncg) promoter, and perform extensive characterization and proof-of-concept studies of mSncg promoter-mediated gene expression and clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing in RGCs in vivo To our knowledge, this is the first report demonstrating in vivo neuroprotection of injured RGCs and optic nerve (ON) by AAV-mediated CRISPR/Cas9 inhibition of genes that are critical for neurodegeneration. It represents a powerful tool to achieve RGC-specific gene modulation, and also opens up a promising gene therapy strategy for optic neuropathies, the most common form of eye diseases that cause irreversible blindness.


Asunto(s)
Regulación de la Expresión Génica/genética , Edición de ARN/genética , Células Ganglionares de la Retina/metabolismo , gamma-Sinucleína/genética , Animales , Sistemas CRISPR-Cas , Dependovirus/genética , Femenino , Eliminación de Gen , Terapia Genética , Humanos , Células Madre Pluripotentes Inducidas , Masculino , Ratones , Ratones Endogámicos C57BL , Nervio Óptico/patología , Enfermedades del Nervio Óptico/genética , Enfermedades del Nervio Óptico/terapia , Células Ganglionares de la Retina/patología , Transgenes/genética
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