Description

Neuro-ophthalmological diseases cause significant deficits in visual function as a result of dysfunctions in neural circuitry or neurodegenerative processes involving the Visual Nervous System (VNS). These processes can be assessed through the combined use of new electrophysiological and imaging techniques for “in vivo” evaluation of morpho-functional anomalies in the VNS. The priority of this Research Line is to reduce visual disability in patients with neuro-ophthalmological conditions through a better understanding of neural circuitry dysfunction and neurodegenerative processes, along with related innovative therapeutic approaches.

Premise

Several diseases involving the VNS (retinal inherited dystrophies, glaucoma, amblyopia, optic neuritis of demyelinating, ischemic, toxic, infectious, or hereditary origin, Alzheimer’s disease, hypo/hyperthyroidism, pituitary disorders, inherited degenerative ataxias, cerebral vascular or neoplastic pathologies, migraine) can cause severe impairment of visual function. This impairment may manifest as reduced visual acuity, concentric or superior/inferior/central visual field loss, or deficits in binocular vision (diplopia). In such neuro-ophthalmological conditions, the exact pathophysiological mechanisms underlying both neural circuitry dysfunction and neurodegenerative processes are not yet clearly identified. A significant contribution to this identification comes from Vision Neurophysiology, which studies the neurophysiological mechanisms underlying visual perception, through both specific electrophysiological techniques (Electroretinogram, Visual Evoked Potentials) and imaging methods that allow “in vivo” assessment of structural anomalies in the complex retinal and optic nerve architecture.

Rationale

Currently, a key challenge in neuro-ophthalmology is the identification of the most accurate diagnostic methods for detecting both neural circuitry abnormalities and neurodegenerative processes that impair visual function. Based on our previous work and existing literature, the Research Line prioritizes the identification of innovative diagnostic procedures capable of specifically detecting neural circuitry dysfunctions and neurodegenerative processes. The clinical use of more accurate, sensitive, and specific methods could reduce socio-healthcare costs associated with performing diagnostic tests that may not be fully appropriate for individual diseases. Moreover, a deeper understanding of the pathophysiological mechanisms could point toward new therapeutic opportunities which, once proven effective, aim to reduce visual function impairment and the associated disability, ultimately improving the quality of life for patients with neuro-ophthalmological diseases.

Objectives

• Identification of innovative diagnostic procedures to better understand neural circuitry dysfunctions and neurodegenerative processes, enabling correct differential diagnosis between retinopathies and diseases of the visual nervous system and their therapeutic implications
• Understanding neural circuitry dysfunction and neurodegenerative processes of the visual nervous system in animal models of human diseases
• Understanding neural circuitry dysfunction and structural anomalies of the visual nervous system that induce visual deficits in patients with migraine, with consequent improvements in diagnostic accuracy and therapeutic innovation

RC 2025 Research

• Identification of the pathophysiological mechanisms of visual system involvement in neurodegenerative diseases
• Pathophysiological mechanisms of neurodegeneration in rare genetic and immunological diseases of the visual system
• Morpho-functional study of visual pathways in patients with migraine subtypes

Expected Results