Exploring biomarkers for keratoconus: current insights and future directions

Area of Science:

• Ophthalmology and Vision Science
• Biochemistry
• Genetics

Background:

• Keratoconus (KC) is a progressive corneal disorder causing vision distortion and potential blindness, typically manifesting in adolescence and progressing into adulthood.
• Its pathophysiology is complex, influenced by genetic factors, environmental triggers, hormonal changes, and eye rubbing, with higher prevalence in certain populations and associations with conditions like Down syndrome.
• Early diagnosis remains challenging despite advancements in imaging and tear-based assays.

Purpose of the Study:

• To investigate the underlying pathological mechanisms of keratoconus.
• To identify key biomarkers, including Prolactin-Induced Protein (PIP), Matrix Metalloproteinases (MMPs), Interleukins, and genetic markers (LOX, FOXO1), for improved understanding and diagnosis.
• To explore the role of systemic and local inflammatory responses in KC and their potential as therapeutic targets.

Main Methods:

• Review of current literature on keratoconus pathophysiology.
• Analysis of identified biomarkers (PIP, MMPs, Interleukins) and genetic markers (LOX, FOXO1).
• Evaluation of diagnostic advancements, including corneal topography, tomography, tear-based assays, and artificial intelligence.

Main Results:

• Keratoconus involves a complex interplay of factors including oxidative stress, inflammation, and genetic predispositions.
• Specific biomarkers such as PIP, MMPs, and interleukins are implicated in the disease process.
• Tear-based diagnostics and AI show promise for non-invasive monitoring and early detection.

Conclusions:

• Understanding the biochemical and genetic profile of keratoconus is crucial for developing effective diagnostic and therapeutic strategies.
• Targeting inflammatory pathways and leveraging advanced diagnostics may significantly improve patient outcomes.
• Further research into keratoconus pathophysiology can lead to novel treatments and enhanced disease management.