Retinocytoma: understanding pathogenesis, diagnosis, and treatment approaches

Retinocytoma, or retinoma, is a rare benign intraocular tumor primarily affecting the retina. It is often considered a precursor or a differentiated form of retinoblastoma, a malignant retinal tumor predominantly seen in children. Despite its non-aggressive nature and excellent prognosis, retinocytoma remains a significant area of interest due to its implications for genetic counseling, early detection, and management of ocular tumors. The pathogenesis of retinocytoma is closely linked to mutations in the RB1 gene, which plays a vital role in regulating the cell cycle. The detection of RB1 mutations in peripheral blood indicates germline disease, substantially elevating the risk of bilateral retinoblastoma development. Despite its benign nature, retinocytoma necessitates vigilant monitoring due to its potential to transform into retinoblastoma. Current treatment strategies primarily focus on observation and regular follow-up. However, more aggressive treatments are considered if malignant transformation is suspected. The prognosis is generally favorable, with most patients maintaining good visual acuity and a low risk of progression to retinoblastoma. We aim to present an up-to-date review on epidemiology, clinical features, pathogenesis, macroscopic and histopathological features, diagnostic criteria, prognosis, and management strategies.