Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.

Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. Most studies described the effect of treatment in a single eye and limited evidence is reported in literature about patients treated in both eyes. In this chapter, we present the findings of a young patient treated in both eyes. Efficacy of the treatment was assessed with Best Corrected Visual Acuity, Goldman Visual Field testing, Esterman computerized binocular visual field and Microperimetric testing. Post-treatment results showed improvement of visual function in both eyes, in particular, a strong amelioration was observed after the first injection, by using conventional monocular tests. Moreover, the treatment in the second eye resulted in a further improvement of binocular visual functionality, as easily detected by computerized binocular visual field. In conclusion, our data suggest that gene therapy can inhibit retinal degeneration and can be safe and effective in restoring visual functionality in young subjects treated in both eyes. Finally, new outcome measurements, in particular binocular computerized visual field parameters, can therefore be useful to quantify overall visual gain in patients undergoing gene therapy in both eyes.

Correlación entre el defecto del campo visual y tractografía postoperatoria en casos de cirugía de epilepsia por esclerosis temporomesial. Estudio anátomo-imagenológico del fascículo de Meyer / Correlation between visual field defect and postoperative tractography in cases of epilepsy surgery due to temporomandibular sclerosis. Anatomic-imaging study of Meyer's fascicle

Objetivo: describir la anatomía del fascículo de Meyer (FM) y los resultados del campo visual computarizado (CVC) y tractografía, por tensor de difusión (TTD) en la identificación del compromiso de este fascículo en pacientes tratados quirúrgicamente por epilepsia refractaria. Introducción: Hasta un 80% de los pacientes con epilepsia temporo-mesial asociada a esclerosis hipocampal son refractarios a la medicación. Para estos pacientes la cirugía es un tratamiento bien establecido y efectivo. No obstante son frecuentes los defectos del campo visual por lesión del FM luego de este tipo de procedimientos. Materiales y métodos: Se realizó disección de fibras blancas de tres cerebros humanos, fijados en formaldehído, mediante la técnica de Klingler, con el fin de reconocer los fascículos que conforman la vía visual en la profundidad del lóbulo temporal. A su vez, se estudiaron 8 pacientes sometidos a lobectomía temporal anterior y amigdalohipocampectomía por esclerosis temporomesial, realizándose TTD y CVC, al menos 3 meses después de la cirugía. Los individuos se clasificaron en cuatro grupos según el defecto campimétrico y se realizaron distintas mediciones en tractografía y resonancia magnética. Finalmente se correlacionaron los resultados de las distintas variables y se realizó una extensa revisión bibliográfica...

Objective: to describe the anatomy of the Meyer´s loop (ML) and the results of computerized visual field (CVF) and diffusion tensor tractography (DTT) to identify the damage of this fascicle in patients surgically treated for refractory epilepsy secondary to mesial-temporal sclerosis. Introduction: Up to 80% of patients with temporo-mesial epilepsy associated with hippocampal sclerosis are refractory to medication. For these patients, surgery is a well established and effective treatment. However visual field defects are frequent by optic radiation´s injury after these procedures. Materials and methods: We performed the dissection of white fibers on three human brains, previously fixed in formaldehyde, by Klingler´s technique, to recognize the fascicles that make up the visual pathway in the depth of the temporal lobe. Then, eight patients submitted to anterior temporal lobectomy and amygdalohippocampectomy were studied performing CVF and TTD at least 3 months after surgery. Individuals were classified into four groups according to visual field defects and other measurements in magnetic resonance imaging and tractography. Finally the results of the different variables were correlated and an extensive review of literature was performed...