Neurodegeneración ocular en enfermedades neuromusculares : Relación entre el grado de discapacidad neurológica y la afectación visual en pacientes con Ataxia de Friedreich o Esclerosis Lateral Amiotrófica Ocularrelación entre el grado de discapacidad neurológica y la afectación vusual en pacientes con ataxia de friedreich o esclerosis lateral amiotrófica. Ocular neurodegeneration in neuromuscular diseases: relationship between the degree of neurological disability and visual impairment in patients with friedreichs ataxia or amiotrophic lateral sclerosis

Supervised by:
  1. José Manuel Ramírez Sebastián Director
  2. Ana Isabel Ramírez Sebastián Director
  3. J.L. Urcelay Segura Director

Defence university: Universidad Complutense de Madrid

Fecha de defensa: 16 March 2022

  1. Mª Luz Cuadrado Pérez Chair
  2. Julián García Feijoo Secretary
  3. María Dolores Pinazo Durán Committee member
  4. Nicolás Cuenca Navarro Committee member
  5. Carlo Nucci Committee member

Type: Thesis


Neuromuscular diseases are a group of chronic progressive neurological illnesses. Friedreich's Ataxia (FRDA) and Amyotrophic Lateral Sclerosis (ALS) are two types of these diseases that predominantly affect the spinal cord, and therefore, the neurological involvement is far from the visual pathway. Moreover, ophthalmological symptoms are scarce or absent. Consequently, there are few studies that analyse visual changes in these patients, and they sometimes produce contradictory results.Since the retina is considered a window to the rest of the nervous system, it could serve as a biomarker of neuronal damage that would help diagnose and monitor each patient's progression, and it also assesses the effectiveness of different treatments. Objectives. This study analyses whether changes occur in the anterior visual pathway of patients with FRDA or ALS at both functional and anatomical levels. Furthermore, it examines the evolution of these changes as the pathology progresses in order to determine whether there is a detectable progression of the disease in the anterior visual pathway. In addition, this work also studies whether these retinal changes have a histological correlation using the ALS TG(SOD1G93A) animal model...