Description

Neoplastic and degenerative diseases, both intraocular and systemic, require ongoing research in diagnostics, prognostics, therapeutic monitoring, and organ damage quantification, following the most innovative concepts of precision medicine. These conditions often necessitate therapeutic interventions that are associated with significant side effects. Therefore, the primary goal of this Research Line is to enhance diagnostic and therapeutic approaches to these diseases by identifying new disease biomarkers and developing more conservative treatment protocols that are as minimally debilitating as possible for the patient’s life.

Premise

The unique anatomical structure of the eye limits diagnostic and therapeutic approaches in ocular oncology, making histological analysis complex and partially restricting treatment options, which increases risks and side effects. As a result, therapeutic decisions in this field are largely based on the clinical evaluation by the ocular oncologist, with relatively limited instrumental support compared to other oncological areas. Furthermore, despite the continuous advancement of precision medicine, ocular and systemic neoplastic diseases still require treatments often associated with significant side effects. Thus, even when achieving good results in terms of local disease control, these treatments frequently result in transient or progressive functional deficits, which are disabling for patients.

Rationale

Currently, diagnostic and therapeutic options in ocular oncology and toxicology are limited by insufficient instrumental support for diagnosis and monitoring of therapy-related side effects. Based on our previous findings and data in the literature, this Research Line prioritizes the identification of new diagnostic and prognostic factors in intraocular tissues and fluids, as well as potential correlations between these factors and biomarkers associated with various diseases. This will be achieved through multimodal diagnostics applied not only during the diagnostic phase and pre-treatment but also in post-treatment to evaluate therapy-related side effects. Special attention will be given to the identification of early biomarkers to prevent the onset of adverse effects following conservative antineoplastic treatments. The identification of more accurate methodologies could lead to reduced socio-healthcare costs related to non-specific diagnostic tests and debilitating therapies. Additionally, adopting a personalized and targeted diagnostic approach could open up new therapeutic opportunities and enable better management of ocular side effects, leading to reduced visual disability and improved quality of life for patients.

Objectives

• Increase overall survival, reduce visual disability, and improve the quality of life in individuals affected by intraocular and systemic neoplastic and degenerative diseases by identifying innovative and targeted diagnostic and prognostic techniques
• Analyze the biochemical composition of intraocular fluids in intraocular neoplastic and degenerative diseases
• Identify new techniques and clinical imaging biomarkers for a more targeted approach to oncological and degenerative ocular diseases, including through screening programs and the use of artificial intelligence systems
• Correlate morphological parameters with various neuroinflammatory profiles and pathology- or patient-specific glial activity identified through qualitative and quantitative studies of the expression of specific protein and biochemical factors in the aqueous humor of patients with intraocular or systemic neoplastic/degenerative diseases compared to healthy controls
• Understand the pathophysiological mechanisms of these diseases in order to identify effective therapeutic approaches with minimal side effects
• Identify disease biomarkers in genetic neurodegenerative disorders (e.g., neurofibromatosis, von Hippel-Lindau disease) and in associated neoplastic conditions (e.g., optic pathway glioma, hemangioblastoma) to integrate and enhance current diagnostic approaches and ensure earlier patient management
• Study ocular surface changes in patients affected not only by anterior and posterior segment neoplastic and degenerative diseases but also by toxicity secondary to oncological treatments or by systemic diseases with predominant neurological involvement, such as amyloidosis

RC 2025 Research

• Liquid biopsy and intraocular biomarkers in intraocular and systemic neoplastic and degenerative diseases
• Characterization of functional and morphological ocular changes secondary to antineoplastic and antidegenerative therapies
• Clinical biomarkers in chorioretinal diseases

Expected Results