Paget’s disease of bone: pathogenesis, ocular manifestations, and therapeutic strategies

OBJECTIVE: Paget's disease of bone (PDB) is a chronic, focal metabolic bone disorder characterized by increased bone destruction and disordered bone formation, and is a rare disease in Asian populations. This review aims to systematically summarize the pathogenesis, ocular manifestations, and treatment strategies for PDB, with the goal of enhancing the understanding of its multi-system involvement and exploring more effective clinical management approaches. METHODS: A systematic search of electronic databases, including PubMed, was conducted using Boolean operators to combine keywords such as "Paget's disease of bone", "osteitis deformans", "pathogenesis", "disease mechanism", "ocular", "oculus", "ophthalmic", "eye", "treatment", "pharmacotherapy", "medication", etc. Following an initial screening and the exclusion of duplicate records, relevant articles were selected for comprehensive analysis. The level of evidence was assessed. RESULTS: 68 articles were included. This review elaborates on the roles of genetic and environmental factors in PDB and details its diverse ocular manifestations, including ptosis, cataract, macular disease, angioid streaks, optic neuropathy, and orbital disease. It also summarizes advances in current pharmacotherapy, primarily based on bisphosphonates, and other potential treatment strategies. CONCLUSION: Abnormal bone remodeling, driven by a combination of genetic susceptibility and environmental factors, constitutes the common pathological basis for both systemic skeletal lesions and specific ocular complications in PDB. Management should be based on multidisciplinary collaboration, integrating pharmacological intervention with individualized ocular care to control disease progression and prevent visual impairment.