Uveal Tumors in Ocular Oncology: Epidemiology, Molecular Genetics, Diagnostic Advances and Contemporary Management
Leyla Eryiğit Eroğul
ABSTRACT
Uveal tumors represent the most common primary intraocular neoplasms in adults and constitute a significant component of ocular oncology practice. Among these tumors, uveal melanoma is the most frequent malignant intraocular tumor arising from melanocytes located within the iris, ciliary body, and choroid. Despite advances in diagnostic imaging, molecular classification, and treatment modalities, metastatic disease remains the leading cause of mortality in affected patients. The liver is the predominant site of metastasis and accounts for nearly 90% of metastatic cases [1–3]. Recent advances in molecular oncology have significantly improved understanding of the pathogenesis of uveal melanoma, particularly the identification of driver mutations in GNAQ and GNA11 genes and prognostic biomarkers such as BAP1, SF3B1, and EIF1AX [4–7]. Imaging modalities including ultrasonography, optical coherence tomography (OCT), and optical coherence tomography angiography (OCTA) have improved early detection and monitoring of uveal tumors [8-10]. Current treatment strategies include plaque brachytherapy, proton beam radiotherapy, surgical management, and emerging systemic targeted therapies [11-13]. This review summarizes current knowledge on the epidemiology, molecular genetics, clinical presentation, diagnostic advances, and contemporary management of uveal tumors.
