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

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

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

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

Neuropatía óptica isquémica Ischemic optic neuropathy

Se realizó una revisión sobre distintos aspectos actualizados relacionados con la neuropatía óptica isquémica. Esta constituye una devastadora entidad que en muchos casos da al traste de manera permanente con la visión de los pacientes. Se divide en dos grandes grupos de acuerdo con el sitio donde ocurre (anterior o posterior) y un tanto así por la relación con su causa (arterítica o no arterítica). La neuropatía óptica isquémica se relaciona con un gran número de factores de riesgo como la hipertensión arterial, cardiopatía isquémica, apnea del sueño entre otras. Al constituir una enfermedad multifactorial su tratamiento se enmarca de una manera individualizada y el ánimo de cubrir todas las posibles causas haciendo principal énfasis en la terapia antioxidante<br>A review was made on the different aspects updated in relation to ischemic optic neuropathy. This is a devastating entity that in many cases causes a permanent damage to the patients' vision. It is divided into 2 large groups, according to the site where it occurs (anterior or posterior) and to the connection with its cause (arteritic or non-arteritic). Ischemic optic neuropathy is related to a great number of risk factors, such as arterial hypertension, ischemic heart disease and sleep apnea, among others. As it is a multifactorial disease, its treatment is individualized aimed at determining all the possible causes, making special emphasis on the antioxidant therap