51 research outputs found
Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy
Multiple system atrophy (MSA) is a rare adult-onset rapidly progressive fatal neurodegenerative disorder characterized by the abnormal aggregation of misfolded α-synuclein primarily in oligodendrocytes.NIH (U54-NS065736-01), Multiple System Atrophy Coalition, Michael J. Fox Foundation, Dysautonomia Foundation, Regional Government of Valencia (Prometeo 2016/158), Spanish Health Research Institute Carlos III (ISCIII RETICS-FEDER RD12/0034/0010), Ministry of Economy of Spain (MINECO-FEDER-BFU2015-67139-R), and Ministry of Education of Spain (FPU14/03166)
Evaluación y pronóstico visual en pacientes con drusen de nervio óptico
A descriptive, prospective and cross-sectional study was carried out with the aim of determining the variables predictive of the visual acuity by means of a follow up of the psychophysical studies and the diagnostic means in patients with papillary drusen, taking into account their location. The universe of study was formed by 20 patients who were treated at the neuro-ophthalmology consulting rooms of the Ramon Pando Ferrer Ophthalmology Hospital in Havana City during the period from November 2006 to November 2007. These patients were selected according to the inclusion and exclusion criteria. The investigation relied on the correlation of variables, which were represented in charts with the previous implementation of a statistical analysis in the program SPSS, version 11. The location of the drusen in the optic nerve was determined according to sectors of the disc with a prevalence of the preliminary temporal ones, with 47.5 percent.Se realizó un estudio descriptivo, prospectivo, de corte transversal, con el objetivo de determinar las variables predictivas de la agudeza visual, mediante el seguimiento de los estudios psicofísicos y medios diagnósticos en pacientes con drusen papilares atendiendo a su localización. El universo estuvo constituido por 20 pacientes que acudieron a las consultas de Neuroftalmología del Hospital Oftalmológico “Ramón Pando Ferrer” de Ciudad de la Habana, en el período comprendido desde noviembre de 2006 hasta noviembre de 2007; los mismos cumplieron con los criterios de inclusión y exclusión. La investigación se apoyó en la correlación de variables, que fueron representadas en un gráfico y tablas con la previa realización de un análisis estadístico en el programa SPSS versión 11. Se determinó localización de los drusen de nervio óptico por sectores del disco; predominaron los prelaminares temporales con un 47.5%
Clinico-Pathological Correlation of the Optic Neuropathy in Familial Dysautonomia
We have demonstrated that Familial Dysautonomia (FD) or Riley Day syndrome is associated with a specific optic neuropathy that resembles other mitochondrial optic neuropathies. In this study we provide histopathologic evidence that mitochondrial dysfunction occurs in the optic nerves of FD patients
Clínica de las lesiones orbitarias y su proceder quirúrgico Clinic of the orbital injuries and its surgical procedure
Se analiza la casuística de 52 pacientes con tumores orbitarios tratados quirúrgicamente en el Instituto de Neurología y Neurocirugía de Cuba durante un período de diez años, con participación directa del autor en los casos atendidos durante los últimos 4 años, en la que se profundiza en los elementos diagnósticos y terapéuticos de estos procesos ocupativos. Los tipos tumorales más frecuentes fueron los meningiomas, los gliomas y los hemangiomas. El estudio clínico y neurooftalmológico orientó en el diagnóstico topográfico en la mayoría de los casos y sugirió en algunos la naturaleza de la lesión. La tomografía axial computadorizada fue el método de estudio complementario más utilizado y que más datos de interés aportó. Se discuten los tipos de lesiones encontradas en estos pacientes y se describen las principales modalidades terapéuticas empleadas, en especial las vías de abordaje quirúrgico a la órbita (56 intervenciones) en dependencia de la localización u otras características de las lesionesThe causistics of 52 patients with orbital tumors surgically treated at the Institute of Neurology and Neurosurgery of Cuba for 10 years, with the direct participation of the author in the cases attended during the last 4 years, is analyzed. The diagnostic and therapeutic elements of these occupying processes were studied in detail. The most common tumors were the meningiomas, the glyomas and the hemangiomas. The clinical and neuroophthalmological study oriented towards the topographic diagnosis in most of the cases and suggested, in some of them, the nature of the injury. The computerized axial tomography was the most used complementary study method, and it also provided the greatest number of data of interest. The types of lesions found in these patients are discussed and the main therapeutic modalities used are described, specially the routes of surgical approach to the orbit (56 operations), depending on the location or other characteristics of the injur
Electrorretinograma estandarizado con respuesta de conos S y onda C en diabéticos sin retinopatía Standardized electroretinogram with response of S-cones and C wave in diabetics without retinopathy
Con la intención de probar la utilidad del electrorretinograma en el estudio funcional de la retina del paciente diabético, se registra el electrorretinograma de 30 sujetos sanos y 20 diabéticos sin retinopatía y visión de la unidad, con diferentes tipos de registros electrorretinográficos, como, electrorretinograma de bastones, mesópico, potenciales oscilatorios, de conos en general, de conos S, onda C y de respuesta macular a la estimulación mantenida. Cuando se compararon con los registros de personas sanas de similar edad, todas las respuestas electrorretinográficas, excepto la de estimulación mantenida, fueron anormales en al menos el 60 % de los casos. Los potenciales oscilatorios y la onda C se vieron afectados en el 100 %<br>In order to prove the usefulness of the electroretinogram in the functional study of the retina of the diabetic patient, it was recorded the electroretinogram of 30 sound subjects and 20 diabetics without retinopathy and unit vision, with different types of electroretinographic recordings, such as vertical bar, oscillatory potential, cones in general, S-cone, and C wave electroretinogram, and that of macular response to the maintained stimulation. On comparing them with the recordings of sound persons with a similar age, all the electroretinographic responses, excepting that of maintained stimulation, were abnormal in at least 60 % of the cases. The oscillatory potentials and the C wave were affected in 100 % of the case
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Clinical Applications of Optical Coherence Tomography in Optic Nerve Disease
Optical coherence tomography (OCT) is a relatively new technology that provides information about the retina, optic nerve, and nerve fiber layer (NFL) differently from other instruments.1 Newer versions of the OCT allow better resolution, which makes it useful for management of optic nerve disease. For neuro-ophthalmology, OCT methods employed for retinal as well as glaucoma analysis are used, because some optic nerve pathologies have macular complications, but also because many retinal conditions may mimic optic nerve disease
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Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report
Purpose:
This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes.
Methods:
The patient underwent complete ophthalmic and retinal evaluations including fluorescein angiography and optical coherence tomography as well as genetic studies. She was treated with intravitreal injection of intravitreal bevacizumab and laser photocoagulation.
Results:
Genetic analysis of the patient identified 2 novel sequence variants in the CEP290 (centrosomal protein 290) gene and another novel sequence variant in the RPGRIP1 (RPGR interacting protein 1) gene.
Conclusions:
The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease
Electrorretinograma: Valores normales con diferentes protocolos de estudio Electroretinogram: Normal values with different study protocols
En 7 investigaciones por separado se llevó a cabo, el registro, la observación y comparación de los valores normales de frecuencia macular, amplitud y latencia de las ondas A y B del electrorretinograma, por cada ojo, obtenidos con diferentes electrodos, equipos y protocolos para registrarlo, usados durante los años 1977 hasta el 2000 en el laboratorio de Electrofisiología de la Visión del Instituto de Neurología y Neurocirugía. Se incluyó la metodología del electrorretinograma más recientemente utilizada, según las normas internacionales sobre el electrorretinograma estandarizado de la Sociedad Internacional para la Electrofisiología de la Visión, que fue el único protocolo de este trabajo en que se incluyó midriasis y preadaptación a la oscuridad o a la luz. Los valores de amplitud, latencia y réplica macular de cada uno de esos protocolos se exponen y se comparan entre sí los de similar protocolo. Ademàs, se presentan las curvas y valores del electrorretinograma estandarizado según las normas de la sociedad antes referidaA study was conducted in 7 separate researches, where the normal values of macular frequency, amplitude and latency of the A and B waves of the electroretinogram were recorded, observed and compared for each eye. These data were obtained with different electrodes, equipment and protocols that were used from 1977 to 2000 at the Laboratory of Vision Electrophysiology of the Institute of Neurology and Neurosurgery. These techniques have allowed to characterize diseases and to suggest the site of the injuries causing the
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Diagnosis and Surgical Treatment of Orbital Tumors
Orbital disorders, especially tumors, are rare and may be dealt with by different specialists, making it difficult for any one group to gain substantial experience with these conditions. However, orbital tumors, like many other rare diseases, are optimally managed by those with the greatest expertise. In this article, we review our diagnostic and therapeutic experience managing 172 patients, 103 who required surgery, over a 17-year period. In particular, we comment on our surgical techniques, which became less invasive during this time
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