Epidemiology, Genetics, Pathology and Clinical Features in Retinoblastoma

Abstract

Retinoblastoma is the most common intraocular tumor in childhood. 95% of retinoblastoma patients are younger than 5 years old. The RB1 gene mutation is mainly responsible for the genetics of the disease. However, in recent years, it has been shown that other genes are also effective and may cause different presentations. Although the International Retinoblastoma Classification is guiding in the treatment of retinoblastoma, it has recently been suggested that the TNM classification may be more useful for the disease. Many imaging methods are used in the diagnosis of retinoblastoma. Treatment of retinoblastoma is complex and needs to be tailored to the patient. Collaboration with an experienced ophthalmologist, pediatric oncologist, interventional radiologist, and radiation oncology is important. Despite this, there are many issues that cannot be clarified in retinoblastoma due to the genetics that are still not clearly revealed, different ideas in the classification, and the changes that may occur in its management.