Genetics Of Retinoblastoma: Basic Research And Clinical Applications

Retinoblastoma is the first genetic cancer of the eye, where the inheritance of the disease is directly demonstrated. This prototype cancer has served as a model for studying multiple other cancers. Retinoblastoma affects the vision, eye, and even life of young children up to the age of 5 years. Developing countries like India harbor the large number of retinoblastoma patients, and most of the patients present at advanced stage of the disease that makes the treatment difficult. It is hence proposed that early detection is necessary for the appropriate treatment and management of the disease. Basic research had largely helped the clinic to identify the patients with genetic predisposition to develop retinoblastoma. Effective use of genetic methods including next-generation sequencing had largely improved the patient care through high-throughput, large gene panel analysis and faster turnaround time. The newly adopted sequential genetic analysis method had considerably reduced the cost and provided an affordable method of genetic screening.